From 4f36f931b1ab2a8964b7da163ca56424c9540fa2 Mon Sep 17 00:00:00 2001 From: droazen Date: Thu, 15 Nov 2018 15:13:45 -0500 Subject: [PATCH] Funcotator: add 5'/3' flank support, with tests (#5403) * Added support for annotating 5'/3' flanks via new FIVE_PRIME_FLANK and THREE_PRIME_FLANK funcotations. * Added --five-prime-flank-size and --three-prime-flank-size arguments to control the size of each flanking region. * Refactored datasource classes to allow for padded/custom queries to make this feature possible. * We now emit IGR funcotations in more cases (in particular, when a gene has no basic transcripts, and when the basic transcripts do not fully span a gene and the flank size is small). * Added comprehensive unit tests, and updated integration test data. Resolves #4771 --- .../DataSourceFuncotationFactory.java | 17 +- .../tools/funcotator/FlankSettings.java | 16 + .../tools/funcotator/Funcotator.java | 3 +- .../FuncotatorArgumentCollection.java | 14 + .../FuncotatorArgumentDefinitions.java | 5 + .../dataSources/DataSourceUtils.java | 91 +-- .../gencode/GencodeFuncotation.java | 6 +- .../gencode/GencodeFuncotationFactory.java | 314 ++++++--- .../funcotator/FuncotatorEngineUnitTest.java | 5 +- .../funcotator/FuncotatorTestConstants.java | 37 +- .../CosmicFuncotationFactoryUnitTest.java | 10 +- .../GencodeFuncotationFactoryUnitTest.java | 655 +++++++++++++++++- .../mafOutput/MafOutputRendererUnitTest.java | 5 +- .../utils/test/FuncotatorTestUtils.java | 41 ++ .../regressionTestHg19Large_expected.maf | 594 ++++++++-------- .../regressionTestHg19Large_expected.vcf | 592 ++++++++-------- .../regressionTestVariantSet1_expected.maf | 102 +-- .../regressionTestVariantSet1_expected.vcf | 100 +-- .../regressionTestVariantSet2_expected.maf | 66 +- .../regressionTestVariantSet2_expected.vcf | 64 +- .../regressionTestVariantSetHG38_expected.maf | 4 +- .../regressionTestVariantSetHG38_expected.vcf | 2 +- 22 files changed, 1799 insertions(+), 944 deletions(-) create mode 100644 src/main/java/org/broadinstitute/hellbender/tools/funcotator/FlankSettings.java diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/DataSourceFuncotationFactory.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/DataSourceFuncotationFactory.java index ea3abe44152..bc41497a922 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/DataSourceFuncotationFactory.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/DataSourceFuncotationFactory.java @@ -160,8 +160,7 @@ public List createFuncotations(final VariantContext variant, final Utils.nonNull(featureContext); // Query this funcotation factory to get the list of overlapping features. - @SuppressWarnings("unchecked") - final List featureList = (List) featureContext.getValues(mainSourceFileAsFeatureInput); + final List featureList = queryFeaturesFromFeatureContext(featureContext); final List outputFuncotations; @@ -210,6 +209,20 @@ private boolean isFeatureListCompatible(final List featureList) { return foundCompatibleFeature; } + /** + * Queries the provided FeatureContext for Features from our FeatureInput {@link #mainSourceFileAsFeatureInput}. + * The default implementation returns all Features from our FeatureInput that overlap the FeatureContext's + * interval, but subclasses may override (for example, to pad the query). + * + * @param featureContext the FeatureContext to query + * @return Features from our FeatureInput {@link #mainSourceFileAsFeatureInput} queried from the FeatureContext + */ + protected List queryFeaturesFromFeatureContext(final FeatureContext featureContext) { + @SuppressWarnings("unchecked") + final List features = (List)featureContext.getValues(mainSourceFileAsFeatureInput); + return features; + } + /** * Creates a {@link List} of {@link Funcotation} for the given {@code variant} and {@code referenceContext}. * These will be default funcotations that essentially have empty values. diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FlankSettings.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FlankSettings.java new file mode 100644 index 00000000000..0ea02b369d2 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FlankSettings.java @@ -0,0 +1,16 @@ +package org.broadinstitute.hellbender.tools.funcotator; + +/** + * Simple struct container class for the 5'/3' flank settings. Helps prevent the two values from + * getting swapped accidentally when passing them around. + */ +public final class FlankSettings { + + public final int fivePrimeFlankSize; + public final int threePrimeFlankSize; + + public FlankSettings(final int fivePrimeFlankSize, final int threePrimeFlankSize) { + this.fivePrimeFlankSize = fivePrimeFlankSize; + this.threePrimeFlankSize = threePrimeFlankSize; + } +} diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java index 1bab97daeaf..9a1f7e07ef4 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/Funcotator.java @@ -256,7 +256,8 @@ public void onTraversalStart() { funcotatorArgs.transcriptSelectionMode, finalUserTranscriptIdSet, this, - funcotatorArgs.lookaheadFeatureCachingInBp + funcotatorArgs.lookaheadFeatureCachingInBp, + new FlankSettings(funcotatorArgs.fivePrimeFlankSize, funcotatorArgs.threePrimeFlankSize) ); // Create our engine to do our work and drive this Funcotation train! diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentCollection.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentCollection.java index f4bba99e271..96332ea2b9c 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentCollection.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentCollection.java @@ -85,6 +85,20 @@ public class FuncotatorArgumentCollection implements Serializable { ) public List annotationOverrides = new ArrayList<>(); + @Argument( + fullName = FuncotatorArgumentDefinitions.FIVE_PRIME_FLANK_SIZE_NAME, + optional = true, + doc = "Variants within this many bases of the 5' end of a transcript (and not overlapping any part of the transcript itself) will be annotated as being in the 5' flanking region of that transcript" + ) + public int fivePrimeFlankSize = FuncotatorArgumentDefinitions.FIVE_PRIME_FLANK_SIZE_DEFAULT_VALUE; + + @Argument( + fullName = FuncotatorArgumentDefinitions.THREE_PRIME_FLANK_SIZE_NAME, + optional = true, + doc = "Variants within this many bases of the 3' end of a transcript (and not overlapping any part of the transcript itself) will be annotated as being in the 3' flanking region of that transcript" + ) + public int threePrimeFlankSize = FuncotatorArgumentDefinitions.THREE_PRIME_FLANK_SIZE_DEFAULT_VALUE; + @Argument( fullName = FuncotatorArgumentDefinitions.LOOKAHEAD_CACHE_IN_BP_NAME, optional = true, diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentDefinitions.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentDefinitions.java index 3bf8c016508..88396b508ba 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentDefinitions.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorArgumentDefinitions.java @@ -56,6 +56,11 @@ public class FuncotatorArgumentDefinitions { public static final String HG19_REFERENCE_VERSION_STRING = "hg19"; public static final String HG38_REFERENCE_VERSION_STRING = "hg38"; + public static final String FIVE_PRIME_FLANK_SIZE_NAME = "five-prime-flank-size"; + public static final String THREE_PRIME_FLANK_SIZE_NAME = "three-prime-flank-size"; + public static final int FIVE_PRIME_FLANK_SIZE_DEFAULT_VALUE = 5000; + public static final int THREE_PRIME_FLANK_SIZE_DEFAULT_VALUE = 0; + public static final String LOOKAHEAD_CACHE_IN_BP_NAME = "lookahead-cache-bp"; public static final int LOOKAHEAD_CACHE_IN_BP_DEFAULT_VALUE = VariantWalkerBase.FEATURE_CACHE_LOOKAHEAD; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java index 23030e9a17c..76494bdce7b 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/DataSourceUtils.java @@ -8,10 +8,7 @@ import org.broadinstitute.hellbender.engine.*; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.exceptions.UserException; -import org.broadinstitute.hellbender.tools.funcotator.DataSourceFuncotationFactory; -import org.broadinstitute.hellbender.tools.funcotator.Funcotator; -import org.broadinstitute.hellbender.tools.funcotator.FuncotatorArgumentDefinitions; -import org.broadinstitute.hellbender.tools.funcotator.TranscriptSelectionMode; +import org.broadinstitute.hellbender.tools.funcotator.*; import org.broadinstitute.hellbender.tools.funcotator.dataSources.cosmic.CosmicFuncotationFactory; import org.broadinstitute.hellbender.tools.funcotator.dataSources.gencode.GencodeFuncotationFactory; import org.broadinstitute.hellbender.tools.funcotator.dataSources.vcf.VcfFuncotationFactory; @@ -231,6 +228,7 @@ public static boolean isValidDirectory(final Path p) { * @param userTranscriptIdSet {@link Set} of {@link String}s containing transcript IDs of interest to be selected for first. Must not be {@code null}. * @param gatkToolInstance Instance of the {@link GATKTool} into which to add {@link FeatureInput}s. Must not be {@code null}. * @param lookaheadFeatureCachingInBp Number of base-pairs to cache when querying variants. + * @param flankSettings Settings object containing our 5'/3' flank sizes * @return A {@link List} of {@link DataSourceFuncotationFactory} given the data source metadata, overrides, and transcript reporting priority information. */ public static List createDataSourceFuncotationFactoriesForDataSources(final Map dataSourceMetaData, @@ -238,12 +236,14 @@ public static List createDataSourceFuncotationFact final TranscriptSelectionMode transcriptSelectionMode, final Set userTranscriptIdSet, final GATKTool gatkToolInstance, - final int lookaheadFeatureCachingInBp) { + final int lookaheadFeatureCachingInBp, + final FlankSettings flankSettings) { Utils.nonNull(dataSourceMetaData); Utils.nonNull(annotationOverridesMap); Utils.nonNull(transcriptSelectionMode); Utils.nonNull(userTranscriptIdSet); Utils.nonNull(gatkToolInstance); + Utils.nonNull(flankSettings); final List dataSourceFactories = new ArrayList<>(dataSourceMetaData.size()); @@ -275,82 +275,15 @@ public static List createDataSourceFuncotationFact break; case GENCODE: featureInput = createAndRegisterFeatureInputs(path, properties, gatkToolInstance, lookaheadFeatureCachingInBp, GencodeGtfFeature.class); - funcotationFactory = DataSourceUtils.createGencodeDataSource(path, properties, annotationOverridesMap, transcriptSelectionMode, userTranscriptIdSet, featureInput); + funcotationFactory = DataSourceUtils.createGencodeDataSource(path, properties, annotationOverridesMap, transcriptSelectionMode, + userTranscriptIdSet, featureInput, flankSettings); break; case VCF: featureInput = createAndRegisterFeatureInputs(path, properties, gatkToolInstance, lookaheadFeatureCachingInBp, VariantContext.class); funcotationFactory = DataSourceUtils.createVcfDataSource(path, properties, annotationOverridesMap, featureInput); break; default: - throw new GATKException("Unknown type of DataSourceFuncotationFactory encountered: " + stringType ); - } - - // Add in our factory: - dataSourceFactories.add(funcotationFactory); - } - - logger.debug("All Data Sources have been created."); - return dataSourceFactories; - } - - /** - * Create a {@link List} of {@link DataSourceFuncotationFactory} based on meta data on the data sources, overrides, and transcript reporting priority information. - * THIS METHOD IS FOR TESTING ONLY! - * @param dataSourceMetaData {@link Map} of {@link Path}->{@link Properties} containing metadata about each data source. Must not be {@code null}. - * @param annotationOverridesMap {@link LinkedHashMap} of {@link String}->{@link String} containing any annotation overrides to include in data sources. Must not be {@code null}. - * @param transcriptSelectionMode {@link TranscriptSelectionMode} to use when choosing the transcript for detailed reporting. Must not be {@code null}. - * @param userTranscriptIdSet {@link Set} of {@link String}s containing transcript IDs of interest to be selected for first. Must not be {@code null}. - * @return A {@link List} of {@link DataSourceFuncotationFactory} given the data source metadata, overrides, and transcript reporting priority information. - */ - @VisibleForTesting - public static List createDataSourceFuncotationFactoriesForDataSourcesForTesting( - final Map dataSourceMetaData, - final LinkedHashMap annotationOverridesMap, - final TranscriptSelectionMode transcriptSelectionMode, - final Set userTranscriptIdSet) { - Utils.nonNull(dataSourceMetaData); - Utils.nonNull(annotationOverridesMap); - Utils.nonNull(transcriptSelectionMode); - Utils.nonNull(userTranscriptIdSet); - - final List dataSourceFactories = new ArrayList<>(dataSourceMetaData.size()); - - // Now we know we have unique and valid data. - // Now we must instantiate our data sources: - for ( final Map.Entry entry : dataSourceMetaData.entrySet() ) { - - final String funcotationFactoryName = entry.getValue().getProperty(CONFIG_FILE_FIELD_NAME_NAME); - logger.debug("Creating Funcotation Factory for " + funcotationFactoryName + " ..."); - - final Path path = entry.getKey(); - final Properties properties = entry.getValue(); - - final DataSourceFuncotationFactory funcotationFactory; - - // Note: we need no default case since we know these are valid: - final String stringType = properties.getProperty("type"); - final FeatureInput featureInput; - switch ( FuncotatorArgumentDefinitions.DataSourceType.getEnum(stringType) ) { - case LOCATABLE_XSV: - featureInput = createFeatureInputsForTesting(path, properties); - funcotationFactory = DataSourceUtils.createLocatableXsvDataSource(path, properties, annotationOverridesMap, featureInput); - break; - case SIMPLE_XSV: - funcotationFactory = DataSourceUtils.createSimpleXsvDataSource(path, properties, annotationOverridesMap); - break; - case COSMIC: - funcotationFactory = DataSourceUtils.createCosmicDataSource(path, properties, annotationOverridesMap); - break; - case GENCODE: - featureInput = createFeatureInputsForTesting(path, properties); - funcotationFactory = DataSourceUtils.createGencodeDataSource(path, properties, annotationOverridesMap, transcriptSelectionMode, userTranscriptIdSet, featureInput); - break; - case VCF: - featureInput = createFeatureInputsForTesting(path, properties); - funcotationFactory = DataSourceUtils.createVcfDataSource(path, properties, annotationOverridesMap, featureInput); - break; - default: - throw new GATKException("Unknown type of DataSourceFuncotationFactory encountered: " + stringType ); + throw new GATKException("Unknown type of DataSourceFuncotationFactory encountered: " + stringType); } // Add in our factory: @@ -498,6 +431,7 @@ private static CosmicFuncotationFactory createCosmicDataSource(final Path dataSo * @param transcriptSelectionMode {@link TranscriptSelectionMode} to use when choosing the transcript for detailed reporting. Must not be {@code null}. * @param userTranscriptIdSet {@link Set} of {@link String}s containing transcript IDs of interest to be selected for first. Must not be {@code null}. * @param featureInput The {@link FeatureInput} object for the Gencode data source we are creating. + * @param flankSettings Settings object containing our 5'/3' flank sizes * @return A new {@link GencodeFuncotationFactory} based on the given data source file information, field overrides map, and transcript information. */ private static GencodeFuncotationFactory createGencodeDataSource(final Path dataSourceFile, @@ -505,13 +439,15 @@ private static GencodeFuncotationFactory createGencodeDataSource(final Path data final LinkedHashMap annotationOverridesMap, final TranscriptSelectionMode transcriptSelectionMode, final Set userTranscriptIdSet, - final FeatureInput featureInput) { + final FeatureInput featureInput, + final FlankSettings flankSettings) { Utils.nonNull(dataSourceFile); Utils.nonNull(dataSourceProperties); Utils.nonNull(annotationOverridesMap); Utils.nonNull(transcriptSelectionMode); Utils.nonNull(userTranscriptIdSet); + Utils.nonNull(flankSettings); // Get some metadata: final String fastaPath = dataSourceProperties.getProperty(CONFIG_FILE_FIELD_NAME_GENCODE_FASTA_PATH); @@ -526,7 +462,8 @@ private static GencodeFuncotationFactory createGencodeDataSource(final Path data transcriptSelectionMode, userTranscriptIdSet, annotationOverridesMap, - featureInput + featureInput, + flankSettings ); } diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotation.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotation.java index 1a03b91878d..399f1d00f27 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotation.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotation.java @@ -767,9 +767,11 @@ public enum VariantClassification { // Only for IGRs: /** Intergenic region. Does not overlap any transcript. */ IGR("IGR", 20), - /** The variant is upstream of the chosen transcript (within 3kb) */ + /** The variant is upstream of the chosen transcript */ FIVE_PRIME_FLANK("FIVE_PRIME_FLANK", 15), - + /** The variant is downstream of the chosen transcript */ + THREE_PRIME_FLANK("THREE_PRIME_FLANK", 16), + // These can be in Coding regions or Introns (only SPLICE_SITE): /** The point mutation alters the protein structure by one amino acid. */ MISSENSE("MISSENSE", 1), diff --git a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactory.java b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactory.java index 2d9d8d3595e..86187bfff84 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactory.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactory.java @@ -11,6 +11,7 @@ import htsjdk.variant.variantcontext.VariantContext; import org.apache.logging.log4j.LogManager; import org.apache.logging.log4j.Logger; +import org.broadinstitute.hellbender.engine.FeatureContext; import org.broadinstitute.hellbender.engine.FeatureInput; import org.broadinstitute.hellbender.engine.ReferenceContext; import org.broadinstitute.hellbender.engine.ReferenceDataSource; @@ -182,12 +183,18 @@ public class GencodeFuncotationFactory extends DataSourceFuncotationFactory { */ private final Comparator gencodeFuncotationComparator; + /** + * Settings object containing our 5'/3' flank sizes + */ + private final FlankSettings flankSettings; + //================================================================================================================== // Constructors: /** - * Create a {@link GencodeFuncotationFactory}. - * @param gencodeTranscriptFastaFile {@link Path} to the FASTA file contianing the sequences of all transcripts in the Gencode data source. + * Creates a {@link GencodeFuncotationFactory} with the 5'/3' flank sizes both set to 0. + * + * @param gencodeTranscriptFastaFile {@link Path} to the FASTA file containing the sequences of all transcripts in the Gencode data source. * @param version The version {@link String} of Gencode from which {@link Funcotation}s will be made. * @param name A {@link String} containing the name of this {@link GencodeFuncotationFactory}. * @param transcriptSelectionMode The {@link TranscriptSelectionMode} by which representative/verbose transcripts will be chosen for overlapping variants. @@ -202,9 +209,34 @@ public GencodeFuncotationFactory(final Path gencodeTranscriptFastaFile, final Set userRequestedTranscripts, final LinkedHashMap annotationOverrides, final FeatureInput mainFeatureInput) { + this(gencodeTranscriptFastaFile, version, name, transcriptSelectionMode, userRequestedTranscripts, annotationOverrides, mainFeatureInput, new FlankSettings(0, 0)); + } + + /** + * Create a {@link GencodeFuncotationFactory}. + * + * @param gencodeTranscriptFastaFile {@link Path} to the FASTA file containing the sequences of all transcripts in the Gencode data source. + * @param version The version {@link String} of Gencode from which {@link Funcotation}s will be made. + * @param name A {@link String} containing the name of this {@link GencodeFuncotationFactory}. + * @param transcriptSelectionMode The {@link TranscriptSelectionMode} by which representative/verbose transcripts will be chosen for overlapping variants. + * @param userRequestedTranscripts A {@link Set} containing Gencode TranscriptIDs that the user requests to be annotated with priority over all other transcripts for overlapping variants. + * @param annotationOverrides A {@link LinkedHashMap} containing user-specified overrides for specific {@link Funcotation}s. + * @param mainFeatureInput The backing {@link FeatureInput} for this {@link GencodeFuncotationFactory}, from which all {@link Funcotation}s will be created. + * @param flankSettings Settings object containing our 5'/3' flank sizes + */ + public GencodeFuncotationFactory(final Path gencodeTranscriptFastaFile, + final String version, + final String name, + final TranscriptSelectionMode transcriptSelectionMode, + final Set userRequestedTranscripts, + final LinkedHashMap annotationOverrides, + final FeatureInput mainFeatureInput, + final FlankSettings flankSettings) { super(mainFeatureInput); + this.flankSettings = flankSettings; + this.gencodeTranscriptFastaFile = gencodeTranscriptFastaFile; transcriptFastaReferenceDataSource = ReferenceDataSource.of(gencodeTranscriptFastaFile); @@ -288,15 +320,20 @@ protected List createDefaultFuncotationsOnVariant( final VariantCon return funcotationList; } - private List createAndFilterGencodeFuncotationsByTranscripts(final VariantContext variant, final ReferenceContext referenceContext, final Allele altAllele, final List gencodeGtfGeneFeatures) { + private List createGencodeFuncotationsByAllTranscripts( final VariantContext variant, final ReferenceContext referenceContext, final Allele altAllele, final List gencodeGtfGeneFeatures) { // If the variant overlaps more than one gene, we need to create a flat list of the transcripts in all genes. final List gencodeFuncotationList = gencodeGtfGeneFeatures.stream() .map(f -> createFuncotationsHelper(variant, altAllele, f, referenceContext)) .flatMap(List::stream).collect(Collectors.toList()); - // Sort and filter the transcript list - sortAndFilterInPlace(gencodeFuncotationList); + // Sort the funcotations, and populate other transcripts. Note that we're guaranteed not to have any + // IGR funcotations at this point due to the contract of createFuncotationsHelper(). + if (gencodeFuncotationList.size() > 0) { + // Get our "Best Transcript" from our list. + sortFuncotationsByTranscriptForOutput(gencodeFuncotationList); + populateOtherTranscriptsMapForFuncotation(gencodeFuncotationList); + } // Grab the best choice in the case of transcript selection modes other than ALL. The selection will be the first // transcript in the list. @@ -307,19 +344,6 @@ private List createAndFilterGencodeFuncotationsByTranscripts return gencodeFuncotationList; } - private void sortAndFilterInPlace(final List gencodeFuncotationList) { - if (gencodeFuncotationList.size() > 0) { - // Get our "Best Transcript" from our list. - sortFuncotationsByTranscriptForOutput(gencodeFuncotationList); - - // Since the initial query was done on the entire gene footprint, we need to get rid of every transcript that does not overlap the variant at all (not even in flank) - // i.e. IGR. - filterAnnotationsByIGR(gencodeFuncotationList); - - populateOtherTranscriptsMapForFuncotation(gencodeFuncotationList); - } - } - private void populateOtherTranscriptsMapForFuncotation(final List gencodeFuncotations) { // This method assumes unique transcript names in each GencodeFuncotation. Do not use Function.identity() as // the key or error will result. @@ -329,9 +353,9 @@ private void populateOtherTranscriptsMapForFuncotation(final List otherTranscriptStrings = funcotationToCondensedString.keySet().stream() - .filter(f -> !f.equals(g.getAnnotationTranscript())) - .map(f -> funcotationToCondensedString.get(f)) - .collect(Collectors.toList()); + .filter(f -> !f.equals(g.getAnnotationTranscript())) + .map(f -> funcotationToCondensedString.get(f)) + .collect(Collectors.toList()); g.setOtherTranscripts(otherTranscriptStrings); } } @@ -359,14 +383,19 @@ protected List createFuncotationsOnVariant(final VariantContext var .collect(Collectors.toList()); // By this point we know the feature type is correct, so we cast it: - final List gencodeFuncotationList = createAndFilterGencodeFuncotationsByTranscripts(variant, referenceContext, altAllele, gencodeGtfGeneFeatures); - - // Add the filtered funcotations here: - outputFuncotations.addAll(gencodeFuncotationList); + final List gencodeFuncotationList = createGencodeFuncotationsByAllTranscripts(variant, referenceContext, altAllele, gencodeGtfGeneFeatures); + + // Add the returned funcotations here: + if ( ! gencodeFuncotationList.isEmpty() ) { + outputFuncotations.addAll(gencodeFuncotationList); + } else { + // If the funcotation List is empty, it means that this variant was IGR for all transcripts, + // or that there were no basic transcripts: + outputFuncotations.add(createIgrFuncotation(variant, altAllele, referenceContext)); + } } - } - else { - // This is an IGR. We have to have an annotation on all variants, so we must annotate it. + } else { + // This is an IGR. We have to have an annotation on all variants, so we must annotate it. outputFuncotations.addAll(createIgrFuncotations(variant, referenceContext)); } @@ -387,6 +416,24 @@ public FuncotatorArgumentDefinitions.DataSourceType getType() { return FuncotatorArgumentDefinitions.DataSourceType.GENCODE; } + /** + * We override this method to request extra padding around queries on our FeatureContext to take into account + * the 5' and 3' flank sizes in our {@link #flankSettings}. We use the max of these two values as our + * query padding. + * + * @param featureContext the FeatureContext to query + * @return Features from our FeatureInput {@link #mainSourceFileAsFeatureInput} queried from the FeatureContext + */ + @Override + protected List queryFeaturesFromFeatureContext( FeatureContext featureContext ) { + final int queryPadding = Math.max(flankSettings.fivePrimeFlankSize, flankSettings.threePrimeFlankSize); + + @SuppressWarnings("unchecked") + final List queryResults = (List)featureContext.getValues(mainSourceFileAsFeatureInput, queryPadding, queryPadding); + + return queryResults; + } + //================================================================================================================== // Static Methods: @@ -404,14 +451,6 @@ static void filterAnnotationsByUserTranscripts( final List f } } - /** - * Filter the given list of {@link GencodeFuncotation} to only contain those funcotations that are NOT IGR. - * @param funcotations The {@link List} of {@link GencodeFuncotation} to filter. - */ - static void filterAnnotationsByIGR(final List funcotations) { - funcotations.removeIf( f -> f.getVariantClassification().equals(GencodeFuncotation.VariantClassification.IGR)); - } - /** * Creates a map of Transcript IDs for use in looking up transcripts from the FASTA dictionary for the GENCODE Transcripts. * We include the start and stop codons in the transcripts so we can handle start/stop codon variants. @@ -584,10 +623,13 @@ static boolean isVariantInCodingRegion(final GencodeFuncotation.VariantClassific /** * Creates a {@link List} of {@link GencodeFuncotation}s based on the given {@link VariantContext}, {@link Allele}, and {@link GencodeGtfGeneFeature}. + * Will return an empty List if the variant was in the IGR for all transcripts. + * * @param variant The variant to annotate. * @param altAllele The allele of the given variant to annotate. * @param gtfFeature The GTF feature on which to base annotations. * @return A {@link List} of {@link GencodeFuncotation}s for the given variant, allele and gtf feature. + * Will be an empty List if the variant was in the IGR for all transcripts. */ private List createFuncotationsHelper(final VariantContext variant, final Allele altAllele, final GencodeGtfGeneFeature gtfFeature, final ReferenceContext reference) { // For each applicable transcript, create an annotation. @@ -607,10 +649,12 @@ private List createFuncotationsHelper(final VariantContext v // Try to create the annotation: try { - final GencodeFuncotation gencodeFuncotation = createGencodeFuncotationOnTranscript(variant, altAllele, gtfFeature, reference, transcript); + final GencodeFuncotation gencodeFuncotation = createGencodeFuncotationOnSingleTranscript(variant, altAllele, gtfFeature, reference, transcript); - // Add it into our transcript: - outputFuncotations.add(gencodeFuncotation); + // Add the functotation for this transcript into our output funcotations. It will be null if this was an IGR. + if ( gencodeFuncotation != null ) { + outputFuncotations.add(gencodeFuncotation); + } } catch ( final FuncotatorUtils.TranscriptCodingSequenceException ex ) { logger.error("Problem creating a GencodeFuncotation on transcript " + transcript.getTranscriptId() + " for variant: " + @@ -681,19 +725,20 @@ private static boolean isBasic(final GencodeGtfTranscriptFeature transcript) { } /** - * Create a {@link GencodeFuncotation} for a given variant and transcript. + * Create a {@link GencodeFuncotation} for a given variant and transcript. Returns null for IGR variants. + * * @param variant The {@link VariantContext} to annotate. * @param altAllele The alternate {@link Allele} to annotate. * @param gtfFeature The corresponding {@link GencodeGtfFeature} from which to create annotations. * @param reference The {@link ReferenceContext} for the given {@link VariantContext}. * @param transcript The {@link GencodeGtfTranscriptFeature} in which the given {@code variant} occurs. - * @return A {@link GencodeFuncotation} + * @return A {@link GencodeFuncotation}, or null if the variant was IGR. */ - private GencodeFuncotation createGencodeFuncotationOnTranscript(final VariantContext variant, - final Allele altAllele, - final GencodeGtfGeneFeature gtfFeature, - final ReferenceContext reference, - final GencodeGtfTranscriptFeature transcript) { + private GencodeFuncotation createGencodeFuncotationOnSingleTranscript(final VariantContext variant, + final Allele altAllele, + final GencodeGtfGeneFeature gtfFeature, + final ReferenceContext reference, + final GencodeGtfTranscriptFeature transcript) { final GencodeFuncotation gencodeFuncotation; // If the alt allele is a spanning deletion or a symbolic allele, create an unknown funcotation: @@ -708,21 +753,40 @@ private GencodeFuncotation createGencodeFuncotationOnTranscript(final VariantCon // TODO: check for complex INDEL and warn and skip (https://github.com/broadinstitute/gatk/issues/5411). - final VariantContext variantToUse = variant; - // Find the sub-feature of transcript that contains our variant: - final GencodeGtfFeature containingSubfeature = getContainingGtfSubfeature(variantToUse, transcript); + final GencodeGtfFeature containingSubfeature = getContainingGtfSubfeature(variant, transcript); + + // First handle flanking and IGR variants + if ( containingSubfeature == null ) { + + // TODO: If the transcript overlaps the variant, but getContainingGtfSubfeature() returned null, it means + // TODO: that the variant spans across a transcript boundary, such as the boundary between the UTR and the + // TODO: flank region. We cannot currently handle this case, so we throw an exception to cause us to annotate + // TODO: with VariantClassification.COULD_NOT_DETERMINE. See https://github.com/broadinstitute/gatk/issues/4307 + if ( transcript.overlaps(variant) ) { + throw new FuncotatorUtils.TranscriptCodingSequenceException(String.format( + "Variant overlaps transcript but is not completely contained within it. " + + "Funcotator cannot currently handle this case. Transcript: %s Variant: %s", + transcript.getTranscriptId(), variant)); + } + else if ( isFivePrimeFlank(variant, transcript, flankSettings.fivePrimeFlankSize) ) { + return createFlankFuncotation(variant, altAllele, transcript, gtfFeature, reference, GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK); + } + else if ( isThreePrimeFlank(variant, transcript, flankSettings.threePrimeFlankSize) ) { + return createFlankFuncotation(variant, altAllele, transcript, gtfFeature, reference, GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK); + } + else { + // This is an IGR, so we return nothing here. If we end up with only IGRs at the end of annotation, + // we'll create the actual IGR funcotations at a higher level. + return null; + } + } // Make sure the sub-regions in the transcript actually contain the variant: // TODO: this is slow, and repeats work that is done later in the process (we call getSortedCdsAndStartStopPositions when creating the sequence comparison) - final int startPosInTranscript = FuncotatorUtils.getStartPositionInTranscript(variantToUse, getSortedCdsAndStartStopPositions(transcript), transcript.getGenomicStrand() ); + final int startPosInTranscript = FuncotatorUtils.getStartPositionInTranscript(variant, getSortedCdsAndStartStopPositions(transcript), transcript.getGenomicStrand() ); - // Determine what kind of region we're in and handle it in it's own way: - if ( containingSubfeature == null ) { - // We have an IGR variant - gencodeFuncotation = createIgrFuncotation(variantToUse, altAllele, reference); - } - else if ( GencodeGtfExonFeature.class.isAssignableFrom(containingSubfeature.getClass()) ) { + if ( GencodeGtfExonFeature.class.isAssignableFrom(containingSubfeature.getClass()) ) { if ( startPosInTranscript == -1 ) { // we overlap an exon but we don't start in one. Right now this case cannot be handled. @@ -732,16 +796,16 @@ else if ( GencodeGtfExonFeature.class.isAssignableFrom(containingSubfeature.getC } else { // We have a coding region variant - gencodeFuncotation = createExonFuncotation(variantToUse, altAllele, gtfFeature, reference, transcript, (GencodeGtfExonFeature) containingSubfeature); + gencodeFuncotation = createExonFuncotation(variant, altAllele, gtfFeature, reference, transcript, (GencodeGtfExonFeature) containingSubfeature); } } else if ( GencodeGtfUTRFeature.class.isAssignableFrom(containingSubfeature.getClass()) ) { // We have a UTR variant - gencodeFuncotation = createUtrFuncotation(variantToUse, altAllele, reference, gtfFeature, transcript, (GencodeGtfUTRFeature) containingSubfeature); + gencodeFuncotation = createUtrFuncotation(variant, altAllele, reference, gtfFeature, transcript, (GencodeGtfUTRFeature) containingSubfeature); } else if ( GencodeGtfTranscriptFeature.class.isAssignableFrom(containingSubfeature.getClass()) ) { // We have an intron variant - gencodeFuncotation = createIntronFuncotation(variantToUse, altAllele, reference, gtfFeature, transcript); + gencodeFuncotation = createIntronFuncotation(variant, altAllele, reference, gtfFeature, transcript); } else { // Uh-oh! Problemz. @@ -815,13 +879,8 @@ private GencodeFuncotation createCodingRegionFuncotationForNonProteinCodingFeatu final StrandCorrectedReferenceBases referenceBases = FuncotatorUtils.createReferenceSnippet(variant.getReference(), altAllele, reference, exon.getGenomicStrand(), referenceWindow); // Set the reference context with the bases from the sequence comparison - // NOTE: The reference context is ALWAYS from the + strand, so we need to reverse our bases back in the - case: - if ( exon.getGenomicStrand() == Strand.POSITIVE ) { - gencodeFuncotationBuilder.setReferenceContext(referenceBases.getBaseString()); - } - else { - gencodeFuncotationBuilder.setReferenceContext(ReadUtils.getBasesReverseComplement(referenceBases.getBases())); - } + // NOTE: The reference context is ALWAYS from the + strand + gencodeFuncotationBuilder.setReferenceContext(referenceBases.getBaseString(Strand.POSITIVE)); // Get our exon positions: final SimpleInterval exonOverlapInterval = FuncotatorUtils.getOverlappingExonPositions(variant.getReference(), altAllele, variant.getContig(), variant.getStart(), variant.getEnd(), transcript.getGenomicStrand(), exonPositionList); @@ -1289,13 +1348,8 @@ private GencodeFuncotation createUtrFuncotation(final VariantContext variant, final StrandCorrectedReferenceBases referenceBases = FuncotatorUtils.createReferenceSnippet(variant.getReference(), altAllele, reference, strand, referenceWindow); // Set our reference sequence in the Gencode Funcotation Builder: - // NOTE: The reference context is ALWAYS from the + strand, so we need to reverse our bases back in the - case: - if ( strand == Strand.POSITIVE ) { - gencodeFuncotationBuilder.setReferenceContext(referenceBases.getBaseString()); - } - else { - gencodeFuncotationBuilder.setReferenceContext(ReadUtils.getBasesReverseComplement(referenceBases.getBases())); - } + // NOTE: The reference context is ALWAYS from the + strand + gencodeFuncotationBuilder.setReferenceContext(referenceBases.getBaseString(Strand.POSITIVE)); // Set whether it's the 5' or 3' UTR: if ( is5PrimeUtr(utr, transcript) ) { @@ -1396,13 +1450,8 @@ private GencodeFuncotation createIntronFuncotation(final VariantContext variant, final StrandCorrectedReferenceBases referenceBases = FuncotatorUtils.createReferenceSnippet(variant.getReference(), altAllele, reference, transcript.getGenomicStrand(), referenceWindow); - // NOTE: The reference context is ALWAYS from the + strand, so we need to reverse our bases back in the - case: - if ( transcript.getGenomicStrand() == Strand.POSITIVE ) { - gencodeFuncotationBuilder.setReferenceContext(referenceBases.getBaseString()); - } - else { - gencodeFuncotationBuilder.setReferenceContext(ReadUtils.getBasesReverseComplement(referenceBases.getBases())); - } + // NOTE: The reference context is ALWAYS from the + strand: + gencodeFuncotationBuilder.setReferenceContext(referenceBases.getBaseString(Strand.POSITIVE)); // Set the VariantClassification: if ( gtfFeature.getGeneType() == GencodeGtfFeature.GeneTranscriptType.PROTEIN_CODING ) { @@ -1966,6 +2015,52 @@ static boolean is5PrimeUtr(final GencodeGtfUTRFeature utr, final GencodeGtfTrans return isBefore; } + /** + * Determines whether the provided variant is in the 5' flanking region of the provided transcript. A variant + * is in the 5' flanking region if it overlaps any of the fivePrimeFlankSize bases before the 5' end of the + * transcript, but does not overlap any part of the transcript itself. + * + * @param variant variant to check + * @param transcript transcript whose flanking regions to consider + * @param fivePrimeFlankSize size in bases of the 5' flanking region + * @return true if the variant overlaps the 5' flanking region and does not overlap the transcript itself, + * otherwise false + */ + @VisibleForTesting + static boolean isFivePrimeFlank(final VariantContext variant, final GencodeGtfTranscriptFeature transcript, final int fivePrimeFlankSize) { + return (transcript.getGenomicStrand() == Strand.POSITIVE && isInTranscriptLeftFlank(variant, transcript, fivePrimeFlankSize)) || + (transcript.getGenomicStrand() == Strand.NEGATIVE && isInTranscriptRightFlank(variant, transcript, fivePrimeFlankSize)); + } + + /** + * Determines whether the provided variant is in the 3' flanking region of the provided transcript. A variant + * is in the 3' flanking region if it overlaps any of the threePrimeFlankSize bases after the 3' end of the + * transcript, but does not overlap any part of the transcript itself. + * + * @param variant variant to check + * @param transcript transcript whose flanking regions to consider + * @param threePrimeFlankSize size in bases of the 3' flanking region + * @return true if the variant overlaps the 3' flanking region and does not overlap the transcript itself, + * otherwise false + */ + @VisibleForTesting + static boolean isThreePrimeFlank(final VariantContext variant, final GencodeGtfTranscriptFeature transcript, final int threePrimeFlankSize) { + return (transcript.getGenomicStrand() == Strand.POSITIVE && isInTranscriptRightFlank(variant, transcript, threePrimeFlankSize)) || + (transcript.getGenomicStrand() == Strand.NEGATIVE && isInTranscriptLeftFlank(variant, transcript, threePrimeFlankSize)); + } + + private static boolean isInTranscriptLeftFlank(final VariantContext variant, final GencodeGtfTranscriptFeature transcript, final int flankSize) { + return variant.getContig().equals(transcript.getContig()) && + variant.getEnd() < transcript.getStart() && + transcript.getStart() - variant.getEnd() <= flankSize; + } + + private static boolean isInTranscriptRightFlank(final VariantContext variant, final GencodeGtfTranscriptFeature transcript, final int flankSize) { + return variant.getContig().equals(transcript.getContig()) && + variant.getStart() > transcript.getEnd() && + variant.getStart() - transcript.getEnd() <= flankSize; + } + /** * Creates a string representing the genome change given the variant, allele, and gene feature for this variant. * NOTE: The genome change will only reflect positions and bases within an exon. @@ -2121,7 +2216,62 @@ private GencodeFuncotation createIgrFuncotation(final VariantContext variant, } // Set our reference context in the the FuncotatonBuilder: - funcotationBuilder.setReferenceContext( FuncotatorUtils.createReferenceSnippet(variant.getReference(), altAllele, reference, Strand.POSITIVE, referenceWindow).getBaseString() ); + funcotationBuilder.setReferenceContext(FuncotatorUtils.createReferenceSnippet(variant.getReference(), altAllele, reference, Strand.POSITIVE, referenceWindow).getBaseString()); + + // Set our version: + funcotationBuilder.setVersion(version); + + // Set our data source name: + funcotationBuilder.setDataSourceName(getName()); + + return funcotationBuilder.build(); + } + + /** + * Creates a {@link GencodeFuncotation}s based on the given {@link Allele} with type + * {@link GencodeFuncotation.VariantClassification#FIVE_PRIME_FLANK} or + * {@link GencodeFuncotation.VariantClassification#THREE_PRIME_FLANK} + * + * @param variant The {@link VariantContext} associated with this annotation. + * @param altAllele The alternate {@link Allele} to use for this {@link GencodeFuncotation}. + * @param transcript {@link GencodeGtfTranscriptFeature} associated with this flank funcotation. + * @param gtfFeature {@link GencodeGtfGeneFeature} associated with this flank funcotation. + * @param reference The {@link ReferenceContext} in which the given {@link Allele}s appear. + * @param flankType {@link GencodeFuncotation.VariantClassification#FIVE_PRIME_FLANK} or + * {@link GencodeFuncotation.VariantClassification#THREE_PRIME_FLANK} + * @return A flank funcotation for the given allele + */ + private GencodeFuncotation createFlankFuncotation(final VariantContext variant, final Allele altAllele, final GencodeGtfTranscriptFeature transcript, final GencodeGtfGeneFeature gtfFeature, final ReferenceContext reference, final GencodeFuncotation.VariantClassification flankType) { + final GencodeFuncotationBuilder funcotationBuilder = new GencodeFuncotationBuilder(); + + // NOTE: The reference context is ALWAYS from the + strand + final StrandCorrectedReferenceBases referenceBases = FuncotatorUtils.createReferenceSnippet(variant.getReference(), altAllele, reference, Strand.POSITIVE, referenceWindow); + final String referenceBasesString = referenceBases.getBaseString(Strand.POSITIVE); + + final double gcContent = calculateGcContent(variant.getReference(), altAllele, reference, gcContentWindowSizeBases); + + funcotationBuilder.setHugoSymbol(gtfFeature.getGeneName()) + .setChromosome(variant.getContig()) + .setStart(variant.getStart()) + .setEnd(variant.getEnd()) + .setStrand(transcript.getGenomicStrand()) + .setVariantClassification(flankType) + .setVariantType(getVariantType(variant.getReference(), altAllele)) + .setRefAllele(variant.getReference()) + .setTumorSeqAllele2(altAllele.getBaseString()) + .setGenomeChange(getGenomeChangeString(variant, altAllele)) + .setAnnotationTranscript(transcript.getTranscriptId()) + .setReferenceContext(referenceBasesString) + .setGcContent(gcContent) + .setNcbiBuild(gtfFeature.getUcscGenomeVersion()) + .setGeneTranscriptType(gtfFeature.getTranscriptType()); + + // If we have a cached value for the ncbiBuildVersion, we should add it: + // NOTE: This will only be true if we have previously annotated a non-IGR variant. + // TODO: This is issue #4404 + if ( ncbiBuildVersion != null ) { + funcotationBuilder.setNcbiBuild( ncbiBuildVersion ); + } // Set our version: funcotationBuilder.setVersion(version); @@ -2246,7 +2396,7 @@ private GencodeFuncotation createFuncotationForMaskedBases(final VariantContext final StrandCorrectedReferenceBases referenceBases = FuncotatorUtils.getBasesInWindowAroundReferenceAllele(variant.getReference(), reference, Strand.POSITIVE, referenceWindow); // Set our reference context in the the FuncotatonBuilder: - funcotationBuilder.setReferenceContext( referenceBases.getBaseString() ); + funcotationBuilder.setReferenceContext(referenceBases.getBaseString(Strand.POSITIVE)); // Set our version: funcotationBuilder.setVersion(version); diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngineUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngineUnitTest.java index 881d985f456..60ed3d4cf80 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngineUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorEngineUnitTest.java @@ -46,6 +46,8 @@ public void testGetFuncotationFactoriesAndCreateFuncotationMapForVariant(final F // Set up our arguments: final FuncotatorArgumentCollection funcotatorArguments = new FuncotatorArgumentCollection(); funcotatorArguments.referenceVersion = FuncotatorArgumentDefinitions.HG19_REFERENCE_VERSION_STRING; + funcotatorArguments.transcriptSelectionMode = TranscriptSelectionMode.CANONICAL; + funcotatorArguments.lookaheadFeatureCachingInBp = FuncotatorArgumentDefinitions.LOOKAHEAD_CACHE_IN_BP_DEFAULT_VALUE; // Create the metadata directly from the input. final FuncotatorEngine funcotatorEngine = @@ -59,7 +61,8 @@ public void testGetFuncotationFactoriesAndCreateFuncotationMapForVariant(final F TranscriptSelectionMode.CANONICAL, new HashSet<>(), new DummyPlaceholderGatkTool(), - FuncotatorArgumentDefinitions.LOOKAHEAD_CACHE_IN_BP_DEFAULT_VALUE) + FuncotatorArgumentDefinitions.LOOKAHEAD_CACHE_IN_BP_DEFAULT_VALUE, + new FlankSettings(0, 0)) ); for (int i = 0; i < entireVcf.getRight().size(); i++) { diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java index d23c7af7032..1bd753567da 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/FuncotatorTestConstants.java @@ -73,15 +73,44 @@ public class FuncotatorTestConstants { public static final String HG38_3_REFERENCE_FILE_NAME = FUNCOTATOR_LARGE_FILES_DIR + "hg38.3.tar.gz"; public static final String HG19_2_REFERENCE_FILE_NAME = FUNCOTATOR_LARGE_FILES_DIR + "b37.2.tar.gz"; - // MUC16 info: - public static final SimpleInterval MUC16_POSITION = new SimpleInterval("chr19", 8959520, 9092018); + // A MUC16-only datasource that contains all transcripts: + public static final String MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME = FUNCOTATOR_LARGE_FILES_DIR + "pik3ca_muc16_all_transcripts_ds" + File.separator + "gencode_muc16" + File.separator + "hg19" + File.separator + "gencode.v19.MUC16.gtf"; + public static final String MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE = FUNCOTATOR_LARGE_FILES_DIR + "pik3ca_muc16_all_transcripts_ds" + File.separator + "gencode_muc16" + File.separator + "hg19" + File.separator + "gencode.v19.MUC16_transcript.fasta"; + + // A PIK3CA-only datasource that contains all transcripts: + public static final String PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME = FUNCOTATOR_LARGE_FILES_DIR + "pik3ca_muc16_all_transcripts_ds" + File.separator + "gencode_pik3ca" + File.separator + "hg19" + File.separator + "gencode.v19.PIK3CA.gtf"; + public static final String PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE = FUNCOTATOR_LARGE_FILES_DIR + "pik3ca_muc16_all_transcripts_ds" + File.separator + "gencode_pik3ca" + File.separator + "hg19" + File.separator + "gencode.v19.PIK3CA_transcript.fasta"; + + /* + * MUC16 info: + */ + + // The full span of the MUC16 gene on HG19 (including non-basic transcripts): + public static final SimpleInterval MUC16_HG19_GENE_POSITION = new SimpleInterval("chr19", 8959520, 9092018); + + // The union of the spans of just the *basic* transcripts for the MUC16 gene on HG19: + // (MUC16 basic transcripts: chr19:8959520-9092018, chr19:8959522-9003586, chr19:8973992-8977690) + public static final SimpleInterval MUC16_HG19_BASIC_TRANSCRIPTS_SPAN = new SimpleInterval("chr19", 8959520, 9092018); + public static final String MUC16_TRANSCRIPT = "ENST00000397910.4"; public static final String MUC16_PATHOLOGICAL_TRANSCRIPT = "ENST00000599436.1"; public static final String MUC16_GENCODE_NON_BASIC_ANNOTATIONS_FILE_NAME = FUNCOTATOR_TEST_DIR + "gencode.v19.MUC16.non-basic.gtf"; - // PIK3CA info: - public static final SimpleInterval PIK3CA_POSITION = new SimpleInterval("chr3", 178866311, 178957881); + /* + * PIK3CA info: + */ + + // The full span of the PIK3CA gene on HG19 (including non-basic transcripts): + public static final SimpleInterval PIK3CA_HG19_GENE_POSITION = new SimpleInterval("chr3", 178865902, 178957881); + + // The union of the spans of just the *basic* transcripts for the PIK3CA gene on HG19: + // (PIK3CA basic transcripts: chr3: 178866311-178957881) + public static final SimpleInterval PIK3CA_HG19_BASIC_TRANSCRIPTS_SPAN = new SimpleInterval("chr3", 178866311, 178957881); + public static final String PIK3CA_TRANSCRIPT = "ENST00000263967.3"; + // Position on HG19 of the PIK3CA_TRANSCRIPT + public static final SimpleInterval PIK3CA_TRANSCRIPT_POSITION = new SimpleInterval("chr3", 178866311, 178957881); + public static final String GTF_CHR3_FILE_NAME = FUNCOTATOR_LARGE_FILES_DIR + "gencode.v19.chr_patch_hapl_scaff.chr3.gtf"; diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/cosmic/CosmicFuncotationFactoryUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/cosmic/CosmicFuncotationFactoryUnitTest.java index 25f04013429..a0732b713aa 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/cosmic/CosmicFuncotationFactoryUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/cosmic/CosmicFuncotationFactoryUnitTest.java @@ -27,7 +27,7 @@ import java.util.regex.Pattern; import static org.broadinstitute.hellbender.tools.funcotator.FuncotatorTestConstants.COSMIC_TEST_DB; -import static org.broadinstitute.hellbender.tools.funcotator.FuncotatorTestConstants.PIK3CA_POSITION; +import static org.broadinstitute.hellbender.tools.funcotator.FuncotatorTestConstants.PIK3CA_TRANSCRIPT_POSITION; /** * Class for running unit tests on {@link CosmicFuncotationFactory}. @@ -51,16 +51,16 @@ public class CosmicFuncotationFactoryUnitTest extends GATKBaseTest { static { final VariantContextBuilder variantContextBuilder = new VariantContextBuilder( FuncotatorReferenceTestUtils.retrieveHg19Chr3Ref(), - PIK3CA_POSITION.getContig(), - PIK3CA_POSITION.getStart(), - PIK3CA_POSITION.getStart(), + PIK3CA_TRANSCRIPT_POSITION.getContig(), + PIK3CA_TRANSCRIPT_POSITION.getStart(), + PIK3CA_TRANSCRIPT_POSITION.getStart(), Arrays.asList(Allele.create("T", true), Allele.create("G")) ); defaultVariantContext = variantContextBuilder.make(); defaultReferenceContext = new ReferenceContext( PIK3CA_REF_DATA_SOURCE, - PIK3CA_POSITION + PIK3CA_TRANSCRIPT_POSITION ); } diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactoryUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactoryUnitTest.java index 9861caa4acd..2e214d87afe 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactoryUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/dataSources/gencode/GencodeFuncotationFactoryUnitTest.java @@ -12,9 +12,7 @@ import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.variantcontext.VariantContextBuilder; import org.broadinstitute.hellbender.GATKBaseTest; -import org.broadinstitute.hellbender.engine.FeatureInput; -import org.broadinstitute.hellbender.engine.ReferenceContext; -import org.broadinstitute.hellbender.engine.ReferenceDataSource; +import org.broadinstitute.hellbender.engine.*; import org.broadinstitute.hellbender.exceptions.GATKException; import org.broadinstitute.hellbender.testutils.FuncotatorReferenceTestUtils; import org.broadinstitute.hellbender.tools.funcotator.*; @@ -22,6 +20,7 @@ import org.broadinstitute.hellbender.utils.codecs.gencode.*; import org.broadinstitute.hellbender.utils.io.IOUtils; import org.broadinstitute.hellbender.utils.test.FuncotatorTestUtils; +import org.broadinstitute.hellbender.utils.test.FuncotatorTestUtils; import org.testng.Assert; import org.testng.annotations.AfterClass; import org.testng.annotations.BeforeClass; @@ -495,6 +494,12 @@ Object[][] provideForCreateNonBasicFuncotations() { { 8962355, 8962355 }, { 8961953, 8961953 }, { 8959612, 8959612 }, + + // Include some test cases outside the bounds of the MUC16 gene: + { 9092019, 9092019 }, + { 9092050, 9092050 }, + { 8959519, 8959519 }, + { 8959510, 8959510 }, }; } @@ -1370,6 +1375,9 @@ void testMuc16SnpCreateFuncotations(final int chromosomeNumber, } } + /* + * Test the case where we have no basic transcripts at all. In these cases, we should get a single IGR annotation + */ @Test(dataProvider = "provideForCreateNonBasicFuncotations") void createNonBasicFuncotations(final int start, final int end) { @@ -1418,8 +1426,13 @@ void createNonBasicFuncotations(final int start, final int end) { featureList.add( gene ); final List funcotations = funcotationFactory.createFuncotationsOnVariant(variantContext, referenceContext, featureList); - // Make sure we get what we expected: - Assert.assertEquals(funcotations.size(), 0); + // Make sure we get what we expected (a single IGR funcotation): + Assert.assertEquals(funcotations.size(), 1); + Assert.assertTrue(funcotations.get(0) instanceof GencodeFuncotation); + + final GencodeFuncotation gencodeFuncotation = (GencodeFuncotation)funcotations.get(0); + Assert.assertEquals(gencodeFuncotation.getVariantClassification(), GencodeFuncotation.VariantClassification.IGR); + Assert.assertNull(gencodeFuncotation.getHugoSymbol()); } } @@ -1474,6 +1487,11 @@ public void testCreateFuncotations(final String expectedGeneName, // TODO: Make this an input argument: final Set requestedTranscriptIds = getValidTranscriptsForGene(expectedGeneName); + // Run this test with flanking turned on for both ends, to make sure that we don't get + // any false positive flank calls. The flanks feature is tested independently below in + // testCreateFuncotationsWithFlanks(). + final FlankSettings flankSettingsForTesting = new FlankSettings(5000, 5000); + // Create a factory for our funcotations: try (final GencodeFuncotationFactory funcotationFactory = new GencodeFuncotationFactory( IOUtils.getPath(transcriptFastaFile), @@ -1482,7 +1500,8 @@ public void testCreateFuncotations(final String expectedGeneName, FuncotatorArgumentDefinitions.TRANSCRIPT_SELECTION_MODE_DEFAULT_VALUE, requestedTranscriptIds, new LinkedHashMap<>(), - new FeatureInput<>(transcriptGtfFile, GencodeFuncotationFactory.DEFAULT_NAME, Collections.emptyMap()))) { + new FeatureInput<>(transcriptGtfFile, GencodeFuncotationFactory.DEFAULT_NAME, Collections.emptyMap()), + flankSettingsForTesting)) { final List featureList = new ArrayList<>(); featureList.add( gene ); @@ -1845,4 +1864,628 @@ private static FeatureInput createFeatureInputForMuc16Ds(fina private static FeatureInput createFeatureInputForCntn4Ds(final String dsName) { return new FeatureInput<>(CNTN4_GENCODE_ANNOTATIONS_FILE_NAME, dsName, Collections.emptyMap()); } + + @DataProvider + public Object[][] provideForTestIsFivePrimeFlankAndIsThreePrimeFlank() { + final GencodeGtfTranscriptFeature positiveStrandTranscript = + FuncotatorTestUtils.createArtificialGencodeGtfTranscriptFeatureForTesting("chr1", 1000, 2000, Strand.POSITIVE); + + final GencodeGtfTranscriptFeature negativeStrandTranscript = + FuncotatorTestUtils.createArtificialGencodeGtfTranscriptFeatureForTesting("chr1", 1000, 2000, Strand.NEGATIVE); + + return new Object[][] { + // Variant, transcript, 5' flank size, 3' flank size, expected isFivePrimeFlank, expected isThreePrimeFlank + + // SNP, + strand, in/around the 5' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 988, 988, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 989, 989, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 990, 990, "A", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 995, 995, "A", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1000, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1001, 1001, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + + // SNP, + strand, in/around the 3' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1999, 1999, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2000, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2005, 2005, "A", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2010, 2010, "A", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2011, 2011, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2012, 2012, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + + // SNP, - strand, in/around the 3' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 988, 988, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 989, 989, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 990, 990, "A", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 995, 995, "A", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1000, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1001, 1001, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + + // SNP, - strand, in/around the 5' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1999, 1999, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2000, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2005, 2005, "A", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2010, 2010, "A", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2011, 2011, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2012, 2012, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + + // Insertion, + strand, in/around the 5' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 988, 988, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 989, 989, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 990, 990, "A", "GT"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 995, 995, "A", "GT"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "GT"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1000, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1001, 1001, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + + // Insertion, + strand, in/around the 3' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1999, 1999, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2000, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "GT"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2005, 2005, "A", "GT"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2010, 2010, "A", "GT"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2011, 2011, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2012, 2012, "A", "GT"), + positiveStrandTranscript, 10, 10, false, false }, + + // Insertion, - strand, in/around the 3' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 988, 988, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 989, 989, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 990, 990, "A", "GT"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 995, 995, "A", "GT"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "GT"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1000, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1001, 1001, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + + // Insertion, - strand, in/around the 5' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1999, 1999, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2000, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "GT"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2005, 2005, "A", "GT"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2010, 2010, "A", "GT"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2011, 2011, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2012, 2012, "A", "GT"), + negativeStrandTranscript, 10, 10, false, false }, + + // Deletion, + strand, in/around the 5' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 986, 988, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 987, 989, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 988, 990, "ACT", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 989, 991, "ACT", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 990, 992, "ACT", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 994, 996, "ACT", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 997, 999, "ACT", "G"), + positiveStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 998, 1000, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 1001, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1002, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1001, 1003, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + + // Deletion, + strand, in/around the 3' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1997, 1999, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1998, 2000, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1999, 2001, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2002, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2003, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2004, 2006, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2008, 2010, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2009, 2011, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2010, 2012, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2011, 2013, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2012, 2014, "ACT", "G"), + positiveStrandTranscript, 10, 10, false, false }, + + // Deletion, - strand, in/around the 3' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 986, 988, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 987, 989, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 988, 990, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 989, 991, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 990, 992, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 994, 996, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 997, 999, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 998, 1000, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 1001, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1002, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1001, 1003, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + + // Deletion, - strand, in/around the 5' flank: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1997, 1999, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1998, 2000, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1999, 2001, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2002, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2003, "ACT", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2004, 2006, "ACT", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2008, 2010, "ACT", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2009, 2011, "ACT", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2010, 2012, "ACT", "G"), + negativeStrandTranscript, 10, 10, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2011, 2013, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2012, 2014, "ACT", "G"), + negativeStrandTranscript, 10, 10, false, false }, + + // With flank size == 0, we should never see a true return value: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + positiveStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + negativeStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1000, "A", "G"), + positiveStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 1000, 1000, "A", "G"), + negativeStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + positiveStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + negativeStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2000, "A", "G"), + positiveStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2000, 2000, "A", "G"), + negativeStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 997, 999, "ACT", "G"), + positiveStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 997, 999, "ACT", "G"), + negativeStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2003, "ACT", "G"), + positiveStrandTranscript, 0, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2003, "ACT", "G"), + negativeStrandTranscript, 0, 0, false, false }, + + // Test cases to ensure that the 5' flank size affects only 5' flank detection, and + // the 3' flank size affects only 3' flank detection: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + positiveStrandTranscript, 1, 0, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + negativeStrandTranscript, 1, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + positiveStrandTranscript, 0, 1, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 999, 999, "A", "G"), + negativeStrandTranscript, 0, 1, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + positiveStrandTranscript, 1, 0, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + negativeStrandTranscript, 1, 0, true, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + positiveStrandTranscript, 0, 1, false, true }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr1", 2001, 2001, "A", "G"), + negativeStrandTranscript, 0, 1, false, false }, + + // Variants on a different contig from the transcript should never produce a true return value: + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr2", 999, 999, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr2", 2001, 2001, "A", "G"), + positiveStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr2", 999, 999, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + { FuncotatorTestUtils.createSimpleVariantContext(null, "chr2", 2001, 2001, "A", "G"), + negativeStrandTranscript, 10, 10, false, false }, + }; + } + + @Test(dataProvider = "provideForTestIsFivePrimeFlankAndIsThreePrimeFlank") + public void testIsFivePrimeFlankAndIsThreePrimeFlank(final VariantContext variant, + final GencodeGtfTranscriptFeature transcript, + final int fivePrimeFlankSize, + final int threePrimeFlankSize, + final boolean expectedIsFivePrimeFlank, + final boolean expectedIsThreePrimeFlank) { + + Assert.assertEquals(GencodeFuncotationFactory.isFivePrimeFlank(variant, transcript, fivePrimeFlankSize), expectedIsFivePrimeFlank, "isFivePrimeFlank() returned the wrong value"); + Assert.assertEquals(GencodeFuncotationFactory.isThreePrimeFlank(variant, transcript, threePrimeFlankSize), expectedIsThreePrimeFlank, "isThreePrimeFlank() returned the wrong value"); + } + + @DataProvider + public Object[][] provideDataForCreateFuncotationsWithFlanks() { + // MUC16 basic transcripts span: chr19:8959520-9092018 + // MUC16 basic transcripts: chr19:8959520-9092018, chr19:8959522-9003586, chr19:8973992-8977690 + + // PIK3CA basic transcripts span: chr3:178866311-178957881 + // PIK3CA basic transcripts: chr3: 178866311-178957881 + + final String MUC16_CONTIG = FuncotatorTestConstants.MUC16_HG19_BASIC_TRANSCRIPTS_SPAN.getContig(); + final int MUC16_START = FuncotatorTestConstants.MUC16_HG19_BASIC_TRANSCRIPTS_SPAN.getStart(); + final int MUC16_END = FuncotatorTestConstants.MUC16_HG19_BASIC_TRANSCRIPTS_SPAN.getEnd(); + + final String PIK3CA_CONTIG = FuncotatorTestConstants.PIK3CA_HG19_BASIC_TRANSCRIPTS_SPAN.getContig(); + final int PIK3CA_START = FuncotatorTestConstants.PIK3CA_HG19_BASIC_TRANSCRIPTS_SPAN.getStart(); + final int PIK3CA_END = FuncotatorTestConstants.PIK3CA_HG19_BASIC_TRANSCRIPTS_SPAN.getEnd(); + + return new Object[][] { + /* *********************************** + * MUC16 Test Cases (reverse strand): + *************************************/ + + /* + * SNP 5' reverse strand POSITIVE test cases: + */ + + // SNP 1 base past the 5' end, 5' flank size = 3000 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 1, MUC16_END + 1, "C", "A", 3000, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 10 bases past the 5' end, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 10, MUC16_END + 10, "A", "T", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 10 bases past the 5' end, 5' flank size = 10 and 3' flank size = 9 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 10, MUC16_END + 10, "A", "T", 10, 9, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 5 bases past the 5' end, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 5, MUC16_END + 5, "T", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * SNP 5' reverse strand NEGATIVE test cases: + */ + + // SNP 1 base past the 5' end, 5' flank size = 0 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_END + 1, MUC16_END + 1, "C", "A", 0, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 1 base past the 5' end, 5' flank size = 0 and 3' flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_END + 1, MUC16_END + 1, "C", "A", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 10 bases past the 5' end, 5' flank size = 9 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_END + 10, MUC16_END + 10, "A", "T", 9, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP on first base of the 5' end, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_UTR, MUC16_CONTIG, MUC16_END, MUC16_END, "T", "A", 10, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * SNP 3' reverse strand POSITIVE test cases: + */ + + // SNP 1 base past the 3' end, 3' flank size = 100 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 1, MUC16_START - 1, "G", "A", 0, 100, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 10 bases past the 3' end, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 10, MUC16_START - 10, "A", "T", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 10 bases past the 3' end, 3' flank size = 10 and 5' flank size = 9 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 10, MUC16_START - 10, "A", "T", 9, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 5 bases past the 3' end, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 5, MUC16_START - 5, "C", "T", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * SNP 3' reverse strand NEGATIVE test cases: + */ + + // SNP 1 base past the 3' end, 3' flank size = 0 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_START - 1, MUC16_START - 1, "G", "A", 0, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 1 base past the 3' end, 3' flank size = 0 and 5' flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_START - 1, MUC16_START - 1, "G", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP 10 bases past the 3' end, 3' flank size = 9 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_START - 10, MUC16_START - 10, "A", "T", 0, 9, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // SNP on last base of the 3' end, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_UTR, MUC16_CONTIG, MUC16_START, MUC16_START, "T", "A", 10, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * Multi-base Deletion 5' reverse strand POSITIVE test cases: + */ + + // 3-base deletion in the first 3 bases of the 5' flank region, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 1, MUC16_END + 3, "CTA", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion in the middle of the 5' flank region, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 4, MUC16_END + 6, "ATT", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion in the last 3 bases of the 5' flank region, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 8, MUC16_END + 10, "AGA", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion, 2 bases in the 5' flank and 1 base outside of it, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 9, MUC16_END + 11, "GAA", "G", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion, 1 base in the 5' flank and 2 bases outside of it, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, MUC16_CONTIG, MUC16_END + 10, MUC16_END + 12, "AAG", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * Multi-base Deletion 5' reverse strand NEGATIVE test cases: + */ + + // 3-base deletion entirely in the 5' UTR, 5' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_UTR, MUC16_CONTIG, MUC16_END - 3, MUC16_END - 1, "GCT", "T", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion at the very end of the 5' UTR, flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.FIVE_PRIME_UTR, MUC16_CONTIG, MUC16_END - 2, MUC16_END, "CTT", "C", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion with 2 bases in the 5' UTR and 1 base in the 5' flank, flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, MUC16_CONTIG, MUC16_END - 1, MUC16_END + 1, "TTC", "T", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion with 1 base in the 5' UTR and 2 bases in the 5' flank, flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, MUC16_CONTIG, MUC16_END, MUC16_END + 2, "TCT", "T", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion 1 base past the end of the 5' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_END + 11, MUC16_END + 13, "AGA", "A", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion 2 bases past the end of the 5' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_END + 12, MUC16_END + 14, "GAC", "G", 10, 0, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * Multi-base Deletion 3' reverse strand POSITIVE test cases: + */ + + // 3-base deletion in the first 3 bases of the 3' flank region, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 3, MUC16_START - 1, "GTG", "G", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion in the middle of the 3' flank region, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 6, MUC16_START - 4, "ACT", "A", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion in the last 3 bases of the 3' flank region, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 10, MUC16_START - 8, "AGA", "A", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion, 2 bases in the 3' flank and 1 base outside of it, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 11, MUC16_START - 9, "CAG", "C", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion, 1 base in the 3' flank and 2 bases outside of it, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, MUC16_CONTIG, MUC16_START - 12, MUC16_START - 10, "TCA", "T", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* + * Multi-base Deletion 3' reverse strand NEGATIVE test cases: + */ + + // 3-base deletion entirely in the 3' UTR, 3' flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_UTR, MUC16_CONTIG, MUC16_START + 1, MUC16_START + 3, "CCG", "C", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion at the very end of the 3' UTR, flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.THREE_PRIME_UTR, MUC16_CONTIG, MUC16_START, MUC16_START + 2, "TCC", "T", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion with 2 bases in the 3' UTR and 1 base in the 3' flank, flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, MUC16_CONTIG, MUC16_START - 1, MUC16_START + 1, "GTC", "G", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion with 1 base in the 3' UTR and 2 bases in the 5' flank, flank size = 10 + { "MUC16", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, MUC16_CONTIG, MUC16_START - 2, MUC16_START, "TGT", "T", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion 1 base past the end of the 3' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_START - 13, MUC16_START - 11, "CTC", "C", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + // 3-base deletion 2 bases past the end of the 3' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, MUC16_CONTIG, MUC16_START - 14, MUC16_START - 12, "GCT", "G", 0, 10, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.MUC16_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch19 }, + + /* *********************************** + * PIK3CA Test Cases (forward strand): + *************************************/ + + /* + * SNP 5' forward strand POSITIVE test cases: + */ + + // SNP 1 base past the 5' end, 5' flank size = 3000 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 1, PIK3CA_START - 1, "C", "A", 3000, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 10 bases past the 5' end, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 10, PIK3CA_START - 10, "C", "A", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 10 bases past the 5' end, 5' flank size = 10 and 3' flank size = 9 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 10, PIK3CA_START - 10, "C", "A", 10, 9, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 5 bases past the 5' end, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 5, PIK3CA_START - 5, "T", "A", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * SNP 5' forward strand NEGATIVE test cases: + */ + + // SNP 1 base past the 5' end, 5' flank size = 0 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_START - 1, PIK3CA_START - 1, "C", "A", 0, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 1 base past the 5' end, 5' flank size = 0 and 3' flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_START - 1, PIK3CA_START - 1, "C", "A", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 10 bases past the 5' end, 5' flank size = 9 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_START - 10, PIK3CA_START - 10, "C", "A", 9, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP on first base of the 5' end, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_UTR, PIK3CA_CONTIG, PIK3CA_START, PIK3CA_START, "T", "A", 10, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * SNP 3' forward strand POSITIVE test cases: + */ + + // SNP 1 base past the 3' end, 3' flank size = 100 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 1, PIK3CA_END + 1, "C", "A", 0, 100, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 10 bases past the 3' end, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 10, PIK3CA_END + 10, "T", "A", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 10 bases past the 3' end, 3' flank size = 10 and 5' flank size = 9 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 10, PIK3CA_END + 10, "T", "A", 9, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 5 bases past the 3' end, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 5, PIK3CA_END + 5, "T", "A", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * SNP 3' forward strand NEGATIVE test cases: + */ + + // SNP 1 base past the 3' end, 3' flank size = 0 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_END + 1, PIK3CA_END + 1, "C", "A", 0, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 1 base past the 3' end, 3' flank size = 0 and 5' flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_END + 1, PIK3CA_END + 1, "C", "A", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP 10 bases past the 3' end, 3' flank size = 9 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_END + 10, PIK3CA_END + 10, "T", "A", 0, 9, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // SNP on last base of the 3' end, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_UTR, PIK3CA_CONTIG, PIK3CA_END, PIK3CA_END, "A", "C", 10, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * Multi-base Deletion 5' forward strand POSITIVE test cases: + */ + + // 3-base deletion in the last 3 bases of the 5' flank region, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 3, PIK3CA_START - 1, "TCC", "T", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion in the middle of the 5' flank region, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 6, PIK3CA_START - 4, "CTC", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion in the first 3 bases of the 5' flank region, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 10, PIK3CA_START - 8, "CCC", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion, 2 bases in the 5' flank and 1 base outside of it, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 11, PIK3CA_START - 9, "GCC", "G", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion, 1 base in the 5' flank and 2 bases outside of it, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_START - 12, PIK3CA_START - 10, "CGC", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * Multi-base Deletion 5' forward strand NEGATIVE test cases: + */ + + // 3-base deletion entirely in the 5' UTR, 5' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_UTR, PIK3CA_CONTIG, PIK3CA_START + 1, PIK3CA_START + 3, "CTC", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion at the very start of the 5' UTR, flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.FIVE_PRIME_UTR, PIK3CA_CONTIG, PIK3CA_START, PIK3CA_START + 2, "TCT", "T", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion with 2 bases in the 5' UTR and 1 base in the 5' flank, flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, PIK3CA_CONTIG, PIK3CA_START - 1, PIK3CA_START + 1, "CTC", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion with 1 base in the 5' UTR and 2 bases in the 5' flank, flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, PIK3CA_CONTIG, PIK3CA_START - 2, PIK3CA_START, "CCT", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion 1 base past the end of the 5' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_START - 13, PIK3CA_START - 11, "CCG", "C", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion 2 bases past the end of the 5' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_START - 14, PIK3CA_START - 12, "GCC", "G", 10, 0, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * Multi-base Deletion 3' forward strand POSITIVE test cases: + */ + + // 3-base deletion in the first 3 bases of the 3' flank region, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 1, PIK3CA_END + 3, "CTT", "C", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion in the middle of the 3' flank region, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 4, PIK3CA_END + 6, "TTT", "T", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion in the last 3 bases of the 3' flank region, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 8, PIK3CA_END + 10, "TGT", "T", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion, 2 bases in the 3' flank and 1 base outside of it, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 9, PIK3CA_END + 11, "GTC", "G", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion, 1 base in the 3' flank and 2 bases outside of it, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_FLANK, PIK3CA_CONTIG, PIK3CA_END + 10, PIK3CA_END + 12, "TCC", "T", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + /* + * Multi-base Deletion 3' forward strand NEGATIVE test cases: + */ + + // 3-base deletion entirely in the 3' UTR, 3' flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_UTR, PIK3CA_CONTIG, PIK3CA_END - 3, PIK3CA_END - 1, "ATT", "A", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion at the very end of the 3' UTR, flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.THREE_PRIME_UTR, PIK3CA_CONTIG, PIK3CA_END - 2, PIK3CA_END, "TTA", "T", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion with 2 bases in the 3' UTR and 1 base in the 3' flank, flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, PIK3CA_CONTIG, PIK3CA_END - 1, PIK3CA_END + 1, "TAC", "T", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion with 1 base in the 3' UTR and 2 bases in the 3' flank, flank size = 10 + { "PIK3CA", GencodeFuncotation.VariantClassification.COULD_NOT_DETERMINE, PIK3CA_CONTIG, PIK3CA_END, PIK3CA_END + 2, "ACT", "A", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion 1 base past the end of the 3' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_END + 11, PIK3CA_END + 13, "CCA", "C", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + // 3-base deletion 2 bases past the end of the 3' flank, flank size = 10 + { null, GencodeFuncotation.VariantClassification.IGR, PIK3CA_CONTIG, PIK3CA_END + 12, PIK3CA_END + 14, "CAA", "C", 0, 10, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_ANNOTATIONS_FILE_NAME, FuncotatorTestConstants.PIK3CA_ALL_TRANSCRIPTS_GENCODE_TRANSCRIPT_FASTA_FILE, refDataSourceHg19Ch3 }, + + }; + } + + @Test(dataProvider = "provideDataForCreateFuncotationsWithFlanks") + public void testCreateFuncotationsWithFlanks(final String expectedGeneName, + final GencodeFuncotation.VariantClassification expectedVariantClassification, + final String contig, + final int start, + final int end, + final String ref, + final String alt, + final int fivePrimeFlankSize, + final int threePrimeFlankSize, + final String transcriptGtfFile, + final String transcriptFastaFile, + final ReferenceDataSource referenceDataSource) { + + final Allele refAllele = Allele.create(ref, true); + final Allele altAllele = Allele.create(alt); + + final VariantContextBuilder variantContextBuilder = new VariantContextBuilder( + "", + contig, + start, + end, + Arrays.asList(refAllele, altAllele) + ); + final VariantContext variantContext = variantContextBuilder.make(); + final SimpleInterval variantInterval = new SimpleInterval(contig, start, end); + + final ReferenceContext referenceContext = new ReferenceContext(referenceDataSource, variantInterval); + + final FeatureInput gencodeFeatureInput = new FeatureInput<>(transcriptGtfFile, GencodeFuncotationFactory.DEFAULT_NAME, Collections.emptyMap()); + final Map, Class> featureInputMap = new HashMap<>(); + featureInputMap.put(gencodeFeatureInput, GencodeGtfFeature.class); + final FeatureContext featureContext = FeatureContext.createFeatureContextForTesting(featureInputMap, "dummyName", variantInterval, VariantWalker.FEATURE_CACHE_LOOKAHEAD, 0, 0, null); + + // Create a factory for our funcotations: + try (final GencodeFuncotationFactory funcotationFactory = new GencodeFuncotationFactory( + IOUtils.getPath(transcriptFastaFile), + "VERSION", + GencodeFuncotationFactory.DEFAULT_NAME, + FuncotatorArgumentDefinitions.TRANSCRIPT_SELECTION_MODE_DEFAULT_VALUE, + Collections.emptySet(), + new LinkedHashMap<>(), + gencodeFeatureInput, + new FlankSettings(fivePrimeFlankSize,threePrimeFlankSize))) { + + // We test against createFuncotations() rather than createFuncotationsOnVariant() here because + // the flanking feature relies on the query done in createFuncotations(), and we need to test + // that the query is padded appropriately. + final List funcotations = funcotationFactory.createFuncotations(variantContext, referenceContext, featureContext); + + // Make sure we get what we expected: + Assert.assertEquals(funcotations.size(), 1); + + final GencodeFuncotation funcotation = (GencodeFuncotation)funcotations.get(0); + + Assert.assertEquals(funcotation.getVariantClassification(), expectedVariantClassification, "Variant classification not correct"); + Assert.assertEquals(funcotation.getHugoSymbol(), expectedGeneName, "Gene name not correct"); + } + } } diff --git a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java index dde675ca8e2..9f31360ec0e 100644 --- a/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java +++ b/src/test/java/org/broadinstitute/hellbender/tools/funcotator/mafOutput/MafOutputRendererUnitTest.java @@ -112,14 +112,15 @@ private MafOutputRenderer createMafOutputRenderer(final File outputFile, final S FuncotatorTestConstants.REFERENCE_VERSION_HG19, Collections.singletonList(FuncotatorTestConstants.FUNCOTATOR_DATA_SOURCES_MAIN_FOLDER) ); - + final List dataSourceFuncotationFactories = DataSourceUtils.createDataSourceFuncotationFactoriesForDataSources( configData, new LinkedHashMap<>(), TranscriptSelectionMode.BEST_EFFECT, new HashSet<>(), new DummyPlaceholderGatkTool(), - FuncotatorArgumentDefinitions.LOOKAHEAD_CACHE_IN_BP_DEFAULT_VALUE + FuncotatorArgumentDefinitions.LOOKAHEAD_CACHE_IN_BP_DEFAULT_VALUE, + new FlankSettings(0, 0) ); // Sort the datasources to ensure the same order every time: diff --git a/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java b/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java index 93b3069987c..dc5e910a9b7 100644 --- a/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java +++ b/src/test/java/org/broadinstitute/hellbender/utils/test/FuncotatorTestUtils.java @@ -17,6 +17,9 @@ import org.broadinstitute.hellbender.tools.funcotator.dataSources.gencode.GencodeFuncotationFactory; import org.broadinstitute.hellbender.utils.SimpleInterval; import org.broadinstitute.hellbender.utils.Utils; +import org.broadinstitute.hellbender.utils.codecs.gencode.GencodeGtfFeature; +import org.broadinstitute.hellbender.utils.codecs.gencode.GencodeGtfFeatureBaseData; +import org.broadinstitute.hellbender.utils.codecs.gencode.GencodeGtfTranscriptFeature; import org.broadinstitute.hellbender.utils.param.ParamUtils; import org.broadinstitute.hellbender.utils.reference.ReferenceBases; @@ -221,4 +224,42 @@ public static ReferenceContext createReferenceContextFromBasesAndLocation(final new SimpleInterval( contigName, refStartPos, refEndPos ) ); } + + /** + * Creates an artifical GencodeGtfTranscriptFeature for testing with dummy values for all fields except + * for the contig, start, stop, and strand. + * + * @param contig Contig that should be assigned to the new GencodeGtfTranscriptFeature + * @param start Start position that should be assigned to the new GencodeGtfTranscriptFeature + * @param stop Stop position that should be assigned to the new GencodeGtfTranscriptFeature + * @param strand Strand that should be assigned to the new GencodeGtfTranscriptFeature + * @return A new GencodeGtfTranscriptFeature with the specified contig, start, stop, and strand, and dummy + * values for all other fields + */ + public static GencodeGtfTranscriptFeature createArtificialGencodeGtfTranscriptFeatureForTesting( final String contig, final int start, final int stop, final Strand strand) { + return (GencodeGtfTranscriptFeature)GencodeGtfTranscriptFeature.create( + new GencodeGtfFeatureBaseData( + 2, + contig, + GencodeGtfFeature.AnnotationSource.ENSEMBL, + GencodeGtfFeature.FeatureType.TRANSCRIPT, + start, + stop, + strand, + GencodeGtfFeature.GenomicPhase.DOT, + "FakeGeneID", + "FakeTranscriptID", + GencodeGtfFeature.GeneTranscriptType.PROTEIN_CODING, + null, + "FakeGeneName", + GencodeGtfFeature.GeneTranscriptType.PROTEIN_CODING, + null, + "FakeTranscriptName", + -1, + null, + GencodeGtfFeature.LocusLevel.AUTOMATICALLY_ANNOTATED, + Collections.emptyList(), + null) + ); + } } diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf index d03af63fffe..2f872838323 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.maf @@ -198,15 +198,15 @@ ## contig= ## contig= ## contig= -## GATKCommandLine= +## GATKCommandLine= ## source=Funcotator -## Funcotator 0.0.5 | Date 20183513T123526 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 +## Funcotator 0.0.5 | Date 20184515T014504 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Activity_linked_to_OMIM FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values tumor_f t_alt_count t_ref_count n_alt_count n_ref_count Gencode_19_secondaryVariantClassification Achilles_Top_Genes CGC_Name CGC_GeneID CGC_Chr CGC_Chr_Band CGC_Cancer_Somatic_Mut CGC_Cancer_Germline_Mut CGC_Cancer_Syndrome CGC_Tissue_Type CGC_Cancer_Molecular_Genetics CGC_Other_Germline_Mut ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_ASSEMBLY ClinVar_rs CosmicFusion_fusion_id DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView DNARepairGenes_Accession_number_linked_to_NCBI_Entrez Familial_Cancer_Genes_Synonym Familial_Cancer_Genes_Reference Gencode_XHGNC_hgnc_id HGNC_HGNC_ID HGNC_Status HGNC_Locus_Type HGNC_Locus_Group HGNC_Previous_Symbols HGNC_Previous_Name HGNC_Synonyms HGNC_Name_Synonyms HGNC_Chromosome HGNC_Date_Modified HGNC_Date_Symbol_Changed HGNC_Date_Name_Changed HGNC_Accession_Numbers HGNC_Enzyme_IDs HGNC_Ensembl_Gene_ID HGNC_Pubmed_IDs HGNC_RefSeq_IDs HGNC_Gene_Family_ID HGNC_Gene_Family_Name HGNC_CCDS_IDs HGNC_Vega_ID HGNC_OMIM_ID(supplied_by_OMIM) HGNC_RefSeq(supplied_by_NCBI) HGNC_UniProt_ID(supplied_by_UniProt) HGNC_Ensembl_ID(supplied_by_Ensembl) HGNC_UCSC_ID(supplied_by_UCSC) Simple_Uniprot_alt_uniprot_accessions dbSNP_AC dbSNP_AF dbSNP_AN dbSNP_ASP dbSNP_ASS dbSNP_CAF dbSNP_CDA dbSNP_CFL dbSNP_COMMON dbSNP_DP dbSNP_DSS dbSNP_G5 dbSNP_G5A dbSNP_GENEINFO dbSNP_GNO dbSNP_HD dbSNP_INT dbSNP_KGPhase1 dbSNP_KGPhase3 dbSNP_LSD dbSNP_MTP dbSNP_MUT dbSNP_NOC dbSNP_NOV dbSNP_NSF dbSNP_NSM dbSNP_NSN dbSNP_OM dbSNP_OTH dbSNP_PM dbSNP_PMC dbSNP_R3 dbSNP_R5 dbSNP_REF dbSNP_RV dbSNP_S3D dbSNP_SAO dbSNP_SLO dbSNP_SSR dbSNP_SYN dbSNP_TOPMED dbSNP_TPA dbSNP_U3 dbSNP_U5 dbSNP_VC dbSNP_VP dbSNP_WGT dbSNP_WTD dbSNP_dbSNPBuildID dbSNP_ID HGNC_Entrez_Gene_ID(supplied_by_NCBI) dbSNP_RSPOS dbSNP_VLD AC AF ALLELE_A ALLELE_B AN BEADSET_ID FUNCOTATION GC_SCORE ILLUMINA_BUILD ILLUMINA_CHR ILLUMINA_POS ILLUMINA_STRAND N_AA N_AB N_BB PROBE_A PROBE_B SOURCE devR_AA devR_AB devR_BB devTHETA_AA devTHETA_AB devTHETA_BB devX_AA devX_AB devX_BB devY_AA devY_AB devY_BB meanR_AA meanR_AB meanR_BB meanTHETA_AA meanTHETA_AB meanTHETA_BB meanX_AA meanX_AB meanX_BB meanY_AA meanY_AB meanY_BB refSNP zthresh_X zthresh_Y RP11-206L10.10 __UNKNOWN__ hg19 1 752566 752566 + RNA SNP G G A 3094315 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:752566G>A ENST00000435300.1 - c.e1-187C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAGAAACGTTTGACAGAG 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2817,0.7183 false false 1 false true false FAM87B:400728 true true false true true false false false false false false false false false false true true false true false true false 0 true 0 false 0.351947,0.648053 false false false SNV 0x05012802000515053f000101 1 false 103 rs3094315 752566 true RP11-206L10.10 __UNKNOWN__ hg19 1 752721 752721 + RNA SNP A A G 3131972 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:752721A>G ENST00000435300.1 - c.e1-32T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGGAAAAGGGAAGAATG 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3466,0.6534 false false 1 false true true FAM87B:400728 true true false true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.393296,0.606704 false false false SNV 0x05010002000517053f000100 1 false 103 rs3131972 752721 true LINC00115 __UNKNOWN__ hg19 1 762320 762320 + RNA SNP C C T 75333668 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:762320C>T ENST00000473798.1 - c.e1-582G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCAACAGTCACCGCTAGTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9305,0.06949 false false 1 false true false LINC01128:643837|LINC00115:79854 false true false true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x050100020005150436000100 1 false 131 rs75333668 762320 true Unknown __UNKNOWN__ hg19 1 798959 798959 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:798959G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGCTTTAAGGTATGACTAG 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 838555 838555 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:838555C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCCATTTCACCTTAATCG 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP11-54O7.16 __UNKNOWN__ hg19 1 838555 838555 + 5'Flank SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:838555C>A ENST00000607769.1 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCCATTTCACCTTAATCG 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-54O7.16 __UNKNOWN__ hg19 1 846808 846808 + RNA SNP C C T 4475691 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:846808C>T ENST00000607769.1 + c.e2-4322C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGAGCTGCGCCTTTGTGC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7452,0.2548 false false 1 false true true LOC284600:284600 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.725634,0.274366 false false false SNV 0x05010002000517053e000100 1 false 111 rs4475691 846808 true SAMD11 __UNKNOWN__ hg19 1 861349 861349 + Missense_Mutation SNP C C T 200686669 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:861349C>T ENST00000342066.3 + 2 111 c.28C>T c.(28-30)Cct>Tct p.P10S AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGTGCATCCTCCGATCTG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs200686669 861349 true SAMD11 __UNKNOWN__ hg19 1 861808 861808 + Intron SNP A A G 13302982 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:861808A>G ENST00000342066.3 + c.e2+415A>G AL645608.1_ENST00000598827.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGACGACAGCATTTTGGGGAG 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3177,0.6823 false false 1 false true false SAMD11:148398 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.289649,0.710351 false false false SNV 0x05010008000515053f000100 1 false 121 rs13302982 861808 true @@ -220,16 +220,16 @@ SAMD11 __UNKNOWN__ hg19 1 865694 865694 + Missense_Mutation SNP C C T 9988179 b SAMD11 __UNKNOWN__ hg19 1 865700 865700 + Missense_Mutation SNP C C T 116730894 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865700C>T ENST00000342066.3 + 3 321 c.238C>T c.(238-240)Cgt>Tgt p.R80C AL645608.1_ENST00000598827.1_Missense_Mutation_p.R16Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGCACATCCGTATCATGAA 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.997802,0.00219795 false false false SNV 0x050100000a05040436000100 1 false 132 rs116730894 865700 true SAMD11 __UNKNOWN__ hg19 1 866429 866429 + Missense_Mutation SNP C C T 144317111 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:866429C>T ENST00000342066.3 + 4 348 c.265C>T c.(265-267)Cac>Tac p.H89Y AL645608.1_ENST00000598827.1_Nonsense_Mutation_p.W6* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCCACACCCACTGGGACGT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309108 false false false SNV 0x050000000a05040402000100 1 false 134 rs144317111 866429 true SAMD11 __UNKNOWN__ hg19 1 866438 866438 + Missense_Mutation SNP G G A 144010167 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:866438G>A ENST00000342066.3 + 4 357 c.274G>A c.(274-276)Gtg>Atg p.V92M AL645608.1_ENST00000598827.1_Missense_Mutation_p.T3M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTGGGACGTGAACATCTC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false SAMD11:148398 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240418 false false false SNV 0x050000000a05040426000100 1 false 134 rs144010167 866438 true -SAMD11 __UNKNOWN__ hg19 1 871159 871159 + Missense_Mutation SNP G G A 143282473 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871159G>A ENST00000342066.3 + 5 396 c.313G>A c.(313-315)Ggc>Agc p.G105S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAGGACGGCAACCTTCC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false SAMD11:148398 false false false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000000a05040036000100 1 false 134 rs143282473 871159 true -SAMD11 __UNKNOWN__ hg19 1 871213 871213 + Missense_Mutation SNP C C G 144490434 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871213C>G ENST00000342066.3 + 5 450 c.367C>G c.(367-369)Ccc>Gcc p.P123A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCGTTATGCCCGAGCATCA 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs144490434 871213 true -SAMD11 __UNKNOWN__ hg19 1 871228 871228 + Missense_Mutation SNP C C T 142210309 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871228C>T ENST00000342066.3 + 5 465 c.382C>T c.(382-384)Cgc>Tgc p.R128C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATCAGAGCCGCTGTGAATT 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs142210309 871228 true -SAMD11 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 871276 true -SAMD11 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 871276 true -SAMD11 __UNKNOWN__ hg19 1 874456 874456 + Missense_Mutation SNP G G A 149677938 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874456G>A ENST00000342066.3 + 6 550 c.467G>A c.(466-468)cGt>cAt p.R156H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCCCCCCGTATCAGCAGC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984,.,. false false 0 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998626,0.00127069,0.000103029,. false false false SNV 0x050000000a05040436000100 1 false 134 rs149677938 874456 true -SAMD11 __UNKNOWN__ hg19 1 874501 874501 + Missense_Mutation SNP C C T 199625867 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874501C>T ENST00000342066.3 + 6 595 c.512C>T c.(511-513)tCg>tTg p.S171L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAAGCGAATCGCCTCAAGGT 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999725,0.000274744 false false false SNV 0x050000000a05040402000100 1 false 137 rs199625867 874501 true -SAMD11 __UNKNOWN__ hg19 1 874673 874673 + Missense_Mutation SNP G G A 112419559 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874673G>A ENST00000342066.3 + 7 622 c.539G>A c.(538-540)cGg>cAg p.R180Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTGCCGCGGGAGCTGGGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 true true false false false false false false false false false true false false false false false false false true false false 0 true 0 false 0.999554,0.000446459 false false false SNV 0x050100000a05040502000100 1 false 132 rs112419559 874673 true -SAMD11 __UNKNOWN__ hg19 1 874714 874714 + Missense_Mutation SNP C C T 201596485 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874714C>T ENST00000342066.3 + 7 663 c.580C>T c.(580-582)Cgg>Tgg p.R194W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATTACCGCCGGCTTGTGTC 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 0 false false false SAMD11:148398 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040426000100 1 false 137 rs201596485 874714 true -SAMD11 __UNKNOWN__ hg19 1 874762 874762 + Missense_Mutation SNP C C T 139437968 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874762C>T ENST00000342066.3 + 7 711 c.628C>T c.(628-630)Cgc>Tgc p.R210C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGACCCTCAGCGCCTCTACCA 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9984,0.001597 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040436000100 1 false 134 rs139437968 874762 true +SAMD11 __UNKNOWN__ hg19 1 871159 871159 + Missense_Mutation SNP G G A 143282473 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871159G>A ENST00000342066.3 + 5 396 c.313G>A c.(313-315)Ggc>Agc p.G105S SAMD11_ENST00000478729.1_5'Flank|AL645608.1_ENST00000598827.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAGGACGGCAACCTTCC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false SAMD11:148398 false false false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000000a05040036000100 1 false 134 rs143282473 871159 true +SAMD11 __UNKNOWN__ hg19 1 871213 871213 + Missense_Mutation SNP C C G 144490434 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871213C>G ENST00000342066.3 + 5 450 c.367C>G c.(367-369)Ccc>Gcc p.P123A SAMD11_ENST00000478729.1_5'Flank|AL645608.1_ENST00000598827.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCGTTATGCCCGAGCATCA 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs144490434 871213 true +SAMD11 __UNKNOWN__ hg19 1 871228 871228 + Missense_Mutation SNP C C T 142210309 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871228C>T ENST00000342066.3 + 5 465 c.382C>T c.(382-384)Cgc>Tgc p.R128C SAMD11_ENST00000478729.1_5'Flank|AL645608.1_ENST00000598827.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATCAGAGCCGCTGTGAATT 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs142210309 871228 true +SAMD11 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S SAMD11_ENST00000478729.1_5'Flank|AL645608.1_ENST00000598827.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 871276 true +SAMD11 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S SAMD11_ENST00000478729.1_5'Flank|AL645608.1_ENST00000598827.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 871276 true +SAMD11 __UNKNOWN__ hg19 1 874456 874456 + Missense_Mutation SNP G G A 149677938 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874456G>A ENST00000342066.3 + 6 550 c.467G>A c.(466-468)cGt>cAt p.R156H SAMD11_ENST00000478729.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCCCCCCGTATCAGCAGC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984,.,. false false 0 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998626,0.00127069,0.000103029,. false false false SNV 0x050000000a05040436000100 1 false 134 rs149677938 874456 true +SAMD11 __UNKNOWN__ hg19 1 874501 874501 + Missense_Mutation SNP C C T 199625867 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874501C>T ENST00000342066.3 + 6 595 c.512C>T c.(511-513)tCg>tTg p.S171L SAMD11_ENST00000478729.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAAGCGAATCGCCTCAAGGT 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999725,0.000274744 false false false SNV 0x050000000a05040402000100 1 false 137 rs199625867 874501 true +SAMD11 __UNKNOWN__ hg19 1 874673 874673 + Missense_Mutation SNP G G A 112419559 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874673G>A ENST00000342066.3 + 7 622 c.539G>A c.(538-540)cGg>cAg p.R180Q SAMD11_ENST00000478729.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTGCCGCGGGAGCTGGGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 true true false false false false false false false false false true false false false false false false false true false false 0 true 0 false 0.999554,0.000446459 false false false SNV 0x050100000a05040502000100 1 false 132 rs112419559 874673 true +SAMD11 __UNKNOWN__ hg19 1 874714 874714 + Missense_Mutation SNP C C T 201596485 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874714C>T ENST00000342066.3 + 7 663 c.580C>T c.(580-582)Cgg>Tgg p.R194W SAMD11_ENST00000478729.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATTACCGCCGGCTTGTGTC 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 0 false false false SAMD11:148398 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040426000100 1 false 137 rs201596485 874714 true +SAMD11 __UNKNOWN__ hg19 1 874762 874762 + Missense_Mutation SNP C C T 139437968 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874762C>T ENST00000342066.3 + 7 711 c.628C>T c.(628-630)Cgc>Tgc p.R210C SAMD11_ENST00000478729.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGACCCTCAGCGCCTCTACCA 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9984,0.001597 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040436000100 1 false 134 rs139437968 874762 true SAMD11 __UNKNOWN__ hg19 1 877556 877556 + Missense_Mutation SNP G G A 201313326 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:877556G>A ENST00000342066.3 + 9 993 c.910G>A c.(910-912)Gcc>Acc p.A304T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGCAGAATGCCCCTCACGT 0.7605985037406484 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true true false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000080a05040402000100 1 false 137 rs201313326 877556 true SAMD11 __UNKNOWN__ hg19 1 878250 878250 + Missense_Mutation SNP A A G 552457744 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878250A>G ENST00000342066.3 + 11 1459 c.1376A>G c.(1375-1377)gAt>gGt p.D459G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGCACAAGATGGCTCGGAA 0.7406483790523691 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,.,0.0001997 false false 0 false false false SAMD11:148398 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,.,6.8686e-005 false false false SNV 0x050000080a05040426000100 1 false 142 rs552457744 878250 true SAMD11 __UNKNOWN__ hg19 1 878423 878423 + Missense_Mutation SNP C C T 201075481 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878423C>T ENST00000342066.3 + 11 1632 c.1549C>T c.(1549-1551)Ccc>Tcc p.P517S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGTCAGCCCCTACTTCCA 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false SAMD11:148398 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999588,0.000412116 false false false SNV 0x050000080a05040426000100 1 false 137 rs201075481 878423 true @@ -267,38 +267,38 @@ NOC2L __UNKNOWN__ hg19 1 888659 888659 + Missense_Mutation SNP T T C 3748597 by NOC2L __UNKNOWN__ hg19 1 889238 889238 + Missense_Mutation SNP G G A 3828049 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:889238G>A ENST00000327044.6 - 8 862 c.812C>T c.(811-813)gCg>gTg p.A271V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCACGGCCGCCAACACCGT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9435,0.05651,. false false 1 false true false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.963081,0.0369187,. false false false SNV 0x050100000a05150536000100 1 false 107 rs3828049 889238 true NOC2L __UNKNOWN__ hg19 1 889387 889387 + Missense_Mutation SNP T T C 200405190 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:889387T>C ENST00000327044.6 - 7 824 c.774A>G c.(772-774)atA>atG p.I258M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAGCACCTGTATGGCCGAGC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs200405190 889387 true NOC2L __UNKNOWN__ hg19 1 889403 889403 + Missense_Mutation SNP T T A 62639963 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:889403T>A ENST00000327044.6 - 7 808 c.758A>T c.(757-759)tAc>tTc p.Y253F __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGCCCAGGTAAGCCTTGAT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9942,0.005791 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.993269,0.00673123 false false false SNV 0x050000000a05040536000100 1 false 129 rs62639963 889403 true -NOC2L __UNKNOWN__ hg19 1 891309 891309 + Missense_Mutation SNP C C T 148852075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891309C>T ENST00000327044.6 - 6 742 c.692G>A c.(691-693)aGc>aAc p.S231N NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACCTGCTGCTATCCTTTGC 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984 false false 1 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs148852075 891309 true -NOC2L __UNKNOWN__ hg19 1 891358 891358 + Missense_Mutation SNP G G T 147225789 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891358G>T ENST00000327044.6 - 6 693 c.643C>A c.(643-645)Ctc>Atc p.L215I NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAATGAGGTCTCTGATG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,.,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999107,6.8686e-005,0.000824232 false false false SNV 0x050100000a05040436000100 1 false 134 rs147225789 891358 true -NOC2L __UNKNOWN__ hg19 1 891384 891384 + Missense_Mutation SNP G G A 139726958 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891384G>A ENST00000327044.6 - 6 667 c.617C>T c.(616-618)gCt>gTt p.A206V NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAACCAGAGCATTGAATGC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040402000100 1 false 134 rs139726958 891384 true -NOC2L __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V NOC2L_ENST00000487214.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 891393 true -NOC2L __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V NOC2L_ENST00000487214.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 891393 true -NOC2L __UNKNOWN__ hg19 1 891591 891591 + Missense_Mutation SNP C C T 138672231 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892380G>A ENST00000327044.6 - 4 430 c.380C>T c.(379-381)gCg>gTg p.A127V NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTTCCTCCGCTCCATCCTC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997424,0.00257573 false false false SNV 0x050000000a05040436000100 1 false 134 rs150615968 892380 true -NOC2L __UNKNOWN__ hg19 1 892388 892388 + Missense_Mutation SNP C C G 149856680 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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c.185G>A c.(184-186)cGt>cAt p.R62H NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGCCTTTACGCCGGCTGAG 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040436000100 1 false 135 rs185378741 892648 true -NOC2L __UNKNOWN__ hg19 1 894315 894315 + Missense_Mutation SNP G G A 201512962 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894315G>A ENST00000327044.6 - 2 223 c.173C>T c.(172-174)tCg>tTg p.S58L NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCTGGCCGAGGGGCTCCC 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451|NOC2L:26155 false true false false true false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040426000100 1 false 137 rs201512962 894315 true -NOC2L __UNKNOWN__ hg19 1 894330 894330 + Missense_Mutation SNP G G A 144217019 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894330G>A ENST00000327044.6 - 2 208 c.158C>T c.(157-159)cCg>cTg p.P53L NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCCGCCCGGCTTATCCGG 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451|NOC2L:26155 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999382,0.000618174 false false false SNV 0x050000020a05040402000100 1 false 134 rs144217019 894330 true -NOC2L __UNKNOWN__ hg19 1 894573 894573 + Intron SNP G G A 13303010 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894573G>A ENST00000327044.6 - c.e1-22C>T NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCAAATCGGCCCTCGGAC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3656,0.6344 false false 1 false true true KLHL17:339451|NOC2L:26155 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.400467,0.599533 false false false SNV 0x0501000a000517053f000100 1 false 121 rs13303010 894573 true -NOC2L __UNKNOWN__ hg19 1 894610 894610 + Missense_Mutation SNP G G A 140357200 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894610G>A ENST00000327044.6 - 1 61 c.11C>T c.(10-12)gCg>gTg p.A4V NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGCTCCCCGCAGCTGCCAT 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false KLHL17:339451|NOC2L:26155 false true false false true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000020a05040426000100 1 false 134 rs140357200 894610 true -KLHL17 __UNKNOWN__ hg19 1 897009 897009 + Splice_Site SNP A A G 138690517 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897009A>G ENST00000338591.3 + 3 475 c.368A>G c.(367-369)aAt>aGt p.N123S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCCGCAGATGAGATGAGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9992,0.0007987 false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000020a05040436000100 1 false 134 rs138690517 897009 true -KLHL17 __UNKNOWN__ hg19 1 897009 897009 + Splice_Site SNP A A G 138690517 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897009A>G ENST00000338591.3 + 3 475 c.368A>G c.(367-369)aAt>aGt p.N123S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCCGCAGATGAGATGAGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9992,0.0007987 false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000020a05040436000100 1 false 134 rs138690517 897009 true -KLHL17 __UNKNOWN__ hg19 1 897285 897285 + Missense_Mutation SNP A A G 149866042 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897285A>G ENST00000338591.3 + 4 676 c.569A>G c.(568-570)gAc>gGc p.D190G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCAGCTCGACCCCTCCAAC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040402000100 1 false 137 rs149866042 897285 true -KLHL17 __UNKNOWN__ hg19 1 897849 897849 + Missense_Mutation SNP C C T 146903778 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897849C>T ENST00000338591.3 + 5 933 c.826C>T c.(826-828)Cgg>Tgg p.R276W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATGTCCCACGGGTGAGGCG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false false 0 true 0 true 0.999622,0.000377773 false false false SNV 0x050100000b05040402000100 1 false 134 rs146903778 897849 true -KLHL17 __UNKNOWN__ hg19 1 898153 898153 + Missense_Mutation SNP C C A 147703918 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898153C>A ENST00000338591.3 + 6 1005 c.898C>A c.(898-900)Ctg>Atg p.L300M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGAGAGCCTGGTGAGGCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398,. false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998695,0.00130503,. false false false SNV 0x050000000a05040436000100 1 false 134 rs147703918 898153 true -KLHL17 __UNKNOWN__ hg19 1 898247 898247 + Missense_Mutation SNP G G A 146171900 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898247G>A ENST00000338591.3 + 6 1099 c.992G>A c.(991-993)cGc>cAc p.R331H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCACCAGCCGCACACGTCCC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 134 rs146171900 898247 true -KLHL17 __UNKNOWN__ hg19 1 898542 898542 + Missense_Mutation SNP A A G 186429850 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898542A>G ENST00000338591.3 + 7 1203 c.1096A>G c.(1096-1098)Acc>Gcc p.T366A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGACACGCGCACCGACCGCTG 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false false SNV 0x050200000a05040436000100 1 false 135 rs186429850 898542 true -KLHL17 __UNKNOWN__ hg19 1 898782 898782 + Missense_Mutation SNP C C T 200489647 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898782C>T ENST00000338591.3 + 8 1360 c.1253C>T c.(1252-1254)cCg>cTg p.P418L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTGGCAGCCGGAGGTGTCC 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 true 0 false 0.99976,.,0.000240401 false false false SNV 0x050300000a05040402000100 1 false 137 rs200489647 898782 true -KLHL17 __UNKNOWN__ hg19 1 898787 898787 + Missense_Mutation SNP G G T 143920987 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898787G>T ENST00000338591.3 + 8 1365 c.1258G>T c.(1258-1260)Gtg>Ttg p.V420L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGCCGGAGGTGTCCATGGG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999485,0.000515145 false false false SNV 0x050200000a05040436000100 1 false 134 rs143920987 898787 true -KLHL17 __UNKNOWN__ hg19 1 898869 898869 + Missense_Mutation SNP C C T 138106672 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898869C>T ENST00000338591.3 + 8 1447 c.1340C>T c.(1339-1341)gCc>gTc p.A447V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGACGGGGCCTCCTGCCTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999897,0.000103036 false false false SNV 0x050200000a05040402000100 1 false 134 rs138106672 898869 true -KLHL17 __UNKNOWN__ hg19 1 899489 899489 + Missense_Mutation SNP G G A 200468119 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899489G>A ENST00000338591.3 + 10 1554 c.1447G>A c.(1447-1449)Ggg>Agg p.G483R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGGCAGATGGGAACCTGTA 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 137 rs200468119 899489 true -KLHL17 __UNKNOWN__ hg19 1 899537 899537 + Missense_Mutation SNP A A G 192525640 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899537A>G ENST00000338591.3 + 10 1602 c.1495A>G c.(1495-1497)Act>Gct p.T499A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCTGGCCACTGTGGAGAA 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040436000100 1 false 135 rs192525640 899537 true -KLHL17 __UNKNOWN__ hg19 1 899789 899789 + Missense_Mutation SNP G G A 199893924 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899789G>A ENST00000338591.3 + 11 1686 c.1579G>A c.(1579-1581)Gtg>Atg p.V527M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCGTGGCCGTGCTGGAGGG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999485,0.000515145 false false false SNV 0x050200000a05040436000100 1 false 137 rs199893924 899789 true -KLHL17 __UNKNOWN__ hg19 1 900383 900383 + Missense_Mutation SNP G G A 749868050 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900383G>A ENST00000338591.3 + 12 1848 c.1741G>A c.(1741-1743)Gcc>Acc p.A581T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGGTTGTACGCCGTGGGGGG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLEKHN1:84069|KLHL17:339451 false false false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040002000100 1 false 144 rs749868050 900383 true -KLHL17 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 900427 true -KLHL17 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 900427 true -KLHL17 __UNKNOWN__ hg19 1 900519 900519 + Missense_Mutation SNP A A G 140019196 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900519A>G ENST00000338591.3 + 12 1984 c.1877A>G c.(1876-1878)aAt>aGt p.N626S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGCTCAATTTCCCGCCG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLEKHN1:84069|KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999657,0.000343454 false false false SNV 0x050000020a05040402000100 1 false 134 rs140019196 900519 true -KLHL17 __UNKNOWN__ hg19 1 900560 900560 + Missense_Mutation SNP A A C 188543688 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900560A>C ENST00000338591.3 + 12 2025 c.1918A>C c.(1918-1920)Acc>Ccc p.T640P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGTCCTCCACCAGCCTCTG 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLEKHN1:84069|KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040402000100 1 false 135 rs188543688 900560 true +NOC2L __UNKNOWN__ hg19 1 891309 891309 + Missense_Mutation SNP C C T 148852075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891309C>T ENST00000327044.6 - 6 742 c.692G>A c.(691-693)aGc>aAc p.S231N KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACCTGCTGCTATCCTTTGC 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984 false false 1 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs148852075 891309 true +NOC2L __UNKNOWN__ hg19 1 891358 891358 + Missense_Mutation SNP G G T 147225789 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891358G>T ENST00000327044.6 - 6 693 c.643C>A c.(643-645)Ctc>Atc p.L215I KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAATGAGGTCTCTGATG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,.,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999107,6.8686e-005,0.000824232 false false false SNV 0x050100000a05040436000100 1 false 134 rs147225789 891358 true +NOC2L __UNKNOWN__ hg19 1 891384 891384 + Missense_Mutation SNP G G A 139726958 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891384G>A ENST00000327044.6 - 6 667 c.617C>T c.(616-618)gCt>gTt p.A206V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAACCAGAGCATTGAATGC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040402000100 1 false 134 rs139726958 891384 true +NOC2L __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 891393 true +NOC2L __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 891393 true +NOC2L __UNKNOWN__ hg19 1 891591 891591 + Missense_Mutation SNP C C T 138672231 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891591C>T ENST00000327044.6 - 5 541 c.491G>A c.(490-492)cGc>cAc p.R164H KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAGTGAGGCGTTGCTGAAG 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999244,0.000755546 false false false SNV 0x050000000a05040436000100 1 false 134 rs138672231 891591 true +NOC2L __UNKNOWN__ hg19 1 891592 891592 + Missense_Mutation SNP G G A 200815419 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891592G>A ENST00000327044.6 - 5 540 c.490C>T c.(490-492)Cgc>Tgc p.R164C KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGTGAGGCGTTGCTGAAGG 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999588,0.000412116 false false false SNV 0x050000000a05040426000100 1 false 137 rs200815419 891592 true +NOC2L __UNKNOWN__ hg19 1 892380 892380 + Missense_Mutation SNP G G A 150615968 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892380G>A ENST00000327044.6 - 4 430 c.380C>T c.(379-381)gCg>gTg p.A127V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTTCCTCCGCTCCATCCTC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997424,0.00257573 false false false SNV 0x050000000a05040436000100 1 false 134 rs150615968 892380 true +NOC2L __UNKNOWN__ hg19 1 892388 892388 + Missense_Mutation SNP C C G 149856680 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892388C>G ENST00000327044.6 - 4 422 c.372G>C c.(370-372)gaG>gaC p.E124D KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGCTCCATCCTCCTCCTCAC 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs149856680 892388 true +NOC2L __UNKNOWN__ hg19 1 892648 892648 + Missense_Mutation SNP C C T 185378741 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892648C>T ENST00000327044.6 - 3 235 c.185G>A c.(184-186)cGt>cAt p.R62H KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGCCTTTACGCCGGCTGAG 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040436000100 1 false 135 rs185378741 892648 true +NOC2L __UNKNOWN__ hg19 1 894315 894315 + Missense_Mutation SNP G G A 201512962 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894315G>A ENST00000327044.6 - 2 223 c.173C>T c.(172-174)tCg>tTg p.S58L KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCTGGCCGAGGGGCTCCC 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451|NOC2L:26155 false true false false true false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040426000100 1 false 137 rs201512962 894315 true +NOC2L __UNKNOWN__ hg19 1 894330 894330 + Missense_Mutation SNP G G A 144217019 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894330G>A ENST00000327044.6 - 2 208 c.158C>T c.(157-159)cCg>cTg p.P53L KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCCGCCCGGCTTATCCGG 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451|NOC2L:26155 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999382,0.000618174 false false false SNV 0x050000020a05040402000100 1 false 134 rs144217019 894330 true +NOC2L __UNKNOWN__ hg19 1 894573 894573 + Intron SNP G G A 13303010 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894573G>A ENST00000327044.6 - c.e1-22C>T KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCAAATCGGCCCTCGGAC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3656,0.6344 false false 1 false true true KLHL17:339451|NOC2L:26155 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.400467,0.599533 false false false SNV 0x0501000a000517053f000100 1 false 121 rs13303010 894573 true +NOC2L __UNKNOWN__ hg19 1 894610 894610 + Missense_Mutation SNP G G A 140357200 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894610G>A ENST00000327044.6 - 1 61 c.11C>T c.(10-12)gCg>gTg p.A4V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGCTCCCCGCAGCTGCCAT 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false KLHL17:339451|NOC2L:26155 false true false false true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000020a05040426000100 1 false 134 rs140357200 894610 true +KLHL17 __UNKNOWN__ hg19 1 897009 897009 + Splice_Site SNP A A G 138690517 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897009A>G ENST00000338591.3 + 3 475 c.368A>G c.(367-369)aAt>aGt p.N123S NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCCGCAGATGAGATGAGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9992,0.0007987 false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000020a05040436000100 1 false 134 rs138690517 897009 true +KLHL17 __UNKNOWN__ hg19 1 897009 897009 + Splice_Site SNP A A G 138690517 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897009A>G ENST00000338591.3 + 3 475 c.368A>G c.(367-369)aAt>aGt p.N123S NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCCGCAGATGAGATGAGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9992,0.0007987 false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000020a05040436000100 1 false 134 rs138690517 897009 true +KLHL17 __UNKNOWN__ hg19 1 897285 897285 + Missense_Mutation SNP A A G 149866042 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897285A>G ENST00000338591.3 + 4 676 c.569A>G c.(568-570)gAc>gGc p.D190G NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCAGCTCGACCCCTCCAAC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040402000100 1 false 137 rs149866042 897285 true +KLHL17 __UNKNOWN__ hg19 1 897849 897849 + Missense_Mutation SNP C C T 146903778 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897849C>T ENST00000338591.3 + 5 933 c.826C>T c.(826-828)Cgg>Tgg p.R276W NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATGTCCCACGGGTGAGGCG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false false 0 true 0 true 0.999622,0.000377773 false false false SNV 0x050100000b05040402000100 1 false 134 rs146903778 897849 true +KLHL17 __UNKNOWN__ hg19 1 898153 898153 + Missense_Mutation SNP C C A 147703918 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898153C>A ENST00000338591.3 + 6 1005 c.898C>A c.(898-900)Ctg>Atg p.L300M NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGAGAGCCTGGTGAGGCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398,. false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998695,0.00130503,. false false false SNV 0x050000000a05040436000100 1 false 134 rs147703918 898153 true +KLHL17 __UNKNOWN__ hg19 1 898247 898247 + Missense_Mutation SNP G G A 146171900 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898247G>A ENST00000338591.3 + 6 1099 c.992G>A c.(991-993)cGc>cAc p.R331H NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCACCAGCCGCACACGTCCC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 134 rs146171900 898247 true +KLHL17 __UNKNOWN__ hg19 1 898542 898542 + Missense_Mutation SNP A A G 186429850 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898542A>G ENST00000338591.3 + 7 1203 c.1096A>G c.(1096-1098)Acc>Gcc p.T366A NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGACACGCGCACCGACCGCTG 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false false SNV 0x050200000a05040436000100 1 false 135 rs186429850 898542 true +KLHL17 __UNKNOWN__ hg19 1 898782 898782 + Missense_Mutation SNP C C T 200489647 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898782C>T ENST00000338591.3 + 8 1360 c.1253C>T c.(1252-1254)cCg>cTg p.P418L NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTGGCAGCCGGAGGTGTCC 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 true 0 false 0.99976,.,0.000240401 false false false SNV 0x050300000a05040402000100 1 false 137 rs200489647 898782 true +KLHL17 __UNKNOWN__ hg19 1 898787 898787 + Missense_Mutation SNP G G T 143920987 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898787G>T ENST00000338591.3 + 8 1365 c.1258G>T c.(1258-1260)Gtg>Ttg p.V420L NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGCCGGAGGTGTCCATGGG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999485,0.000515145 false false false SNV 0x050200000a05040436000100 1 false 134 rs143920987 898787 true +KLHL17 __UNKNOWN__ hg19 1 898869 898869 + Missense_Mutation SNP C C T 138106672 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898869C>T ENST00000338591.3 + 8 1447 c.1340C>T c.(1339-1341)gCc>gTc p.A447V NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGACGGGGCCTCCTGCCTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999897,0.000103036 false false false SNV 0x050200000a05040402000100 1 false 134 rs138106672 898869 true +KLHL17 __UNKNOWN__ hg19 1 899489 899489 + Missense_Mutation SNP G G A 200468119 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899489G>A ENST00000338591.3 + 10 1554 c.1447G>A c.(1447-1449)Ggg>Agg p.G483R NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGGCAGATGGGAACCTGTA 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 137 rs200468119 899489 true +KLHL17 __UNKNOWN__ hg19 1 899537 899537 + Missense_Mutation SNP A A G 192525640 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899537A>G ENST00000338591.3 + 10 1602 c.1495A>G c.(1495-1497)Act>Gct p.T499A NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCTGGCCACTGTGGAGAA 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040436000100 1 false 135 rs192525640 899537 true +KLHL17 __UNKNOWN__ hg19 1 899789 899789 + Missense_Mutation SNP G G A 199893924 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899789G>A ENST00000338591.3 + 11 1686 c.1579G>A c.(1579-1581)Gtg>Atg p.V527M PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCGTGGCCGTGCTGGAGGG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999485,0.000515145 false false false SNV 0x050200000a05040436000100 1 false 137 rs199893924 899789 true +KLHL17 __UNKNOWN__ hg19 1 900383 900383 + Missense_Mutation SNP G G A 749868050 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900383G>A ENST00000338591.3 + 12 1848 c.1741G>A c.(1741-1743)Gcc>Acc p.A581T PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGGTTGTACGCCGTGGGGGG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLEKHN1:84069|KLHL17:339451 false false false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040002000100 1 false 144 rs749868050 900383 true +KLHL17 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 900427 true +KLHL17 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 900427 true +KLHL17 __UNKNOWN__ hg19 1 900519 900519 + Missense_Mutation SNP A A G 140019196 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900519A>G ENST00000338591.3 + 12 1984 c.1877A>G c.(1876-1878)aAt>aGt p.N626S PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGCTCAATTTCCCGCCG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLEKHN1:84069|KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999657,0.000343454 false false false SNV 0x050000020a05040402000100 1 false 134 rs140019196 900519 true +KLHL17 __UNKNOWN__ hg19 1 900560 900560 + Missense_Mutation SNP A A C 188543688 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900560A>C ENST00000338591.3 + 12 2025 c.1918A>C c.(1918-1920)Acc>Ccc p.T640P PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGTCCTCCACCAGCCTCTG 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLEKHN1:84069|KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040402000100 1 false 135 rs188543688 900560 true PLEKHN1 __UNKNOWN__ hg19 1 901922 901922 + Missense_Mutation SNP G G A 62639980 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:901922G>A ENST00000379410.3 + 1 46 c.11G>A c.(10-12)aGc>aAc p.S4N PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S4N|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.S4N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGGGGAACAGCCACTGTGTC 0.7231920199501247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9882,0.01058,0.001198 false false 1 false false false PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.98221,0.0158321,0.00195755 false false false SNV 0x050100000a05140536000100 1 false 129 rs62639980 901922 true PLEKHN1 __UNKNOWN__ hg19 1 901923 901923 + Missense_Mutation SNP C C A 149741186 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:901923C>A ENST00000379410.3 + 1 47 c.12C>A c.(10-12)agC>agA p.S4R PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S4R|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.S4R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGAACAGCCACTGTGTCC 0.7256857855361596 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9894,0.01058 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.984168,0.0158321 false false false SNV 0x050100000a05140436000100 1 false 134 rs149741186 901923 true PLEKHN1 __UNKNOWN__ hg19 1 902088 902088 + Missense_Mutation SNP G G A 201730138 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:902088G>A ENST00000379410.3 + 2 123 c.88G>A c.(88-90)Gac>Aac p.D30N PLEKHN1_ENST00000379407.3_Missense_Mutation_p.D30N|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.D30N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCAGAGAGGACAGCGCGCG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999622,0.000377773 false false false SNV 0x050000000a05040436000100 1 false 137 rs201730138 902088 true @@ -331,31 +331,31 @@ PLEKHN1 __UNKNOWN__ hg19 1 908389 908389 + Splice_Site SNP C C T 75748725 byFre PLEKHN1 __UNKNOWN__ hg19 1 908390 908390 + Splice_Site SNP G G A 148169601 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908390G>A ENST00000379410.3 + 11 1187 c.1152G>A c.(1150-1152)ccG>ccA p.P384P PLEKHN1_ENST00000379407.3_Splice_Site_p.P396P|PLEKHN1_ENST00000379409.2_Splice_Site_p.P436P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCACACACCGGTGAGCGCTT 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9968,0.003195 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999897,0.000103029 false false false SNV 0x050000000305040436000100 1 false 134 rs148169601 908390 true PLEKHN1 __UNKNOWN__ hg19 1 908390 908390 + Splice_Site SNP G G A 148169601 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908390G>A ENST00000379410.3 + 11 1187 c.1152G>A c.(1150-1152)ccG>ccA p.P384P PLEKHN1_ENST00000379407.3_Splice_Site_p.P396P|PLEKHN1_ENST00000379409.2_Splice_Site_p.P436P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCACACACCGGTGAGCGCTT 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9968,0.003195 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999897,0.000103029 false false false SNV 0x050000000305040436000100 1 false 134 rs148169601 908390 true PLEKHN1 __UNKNOWN__ hg19 1 909320 909320 + Silent SNP C C T 144710974 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:909320C>T ENST00000379410.3 + 14 1577 c.1542C>T c.(1540-1542)ccC>ccT p.P514P PLEKHN1_ENST00000379407.3_Silent_p.P479P|PLEKHN1_ENST00000379409.2_Silent_p.P566P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCCGGCCCCGCTGGCCCCT 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.998077,0.00192334 false false false SNV 0x050000000305040436000100 1 false 134 rs144710974 909320 true -Unknown __UNKNOWN__ hg19 1 918573 918573 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:918573A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAACCTCTCACATTTCCAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C1orf170 __UNKNOWN__ hg19 1 918573 918573 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:918573A>G ENST00000341290.2 - C1orf170_ENST00000433179.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAACCTCTCACATTTCCAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 928836 928836 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:928836C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTAAAGCCGAACTGGAAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-54O7.17 __UNKNOWN__ hg19 1 932457 932457 + RNA SNP G G A 1891910 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:932457G>A ENST00000606034.1 - c.e1-974C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTCAAAGGGATGGATTAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8684,0.1316,. false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.840569,0.159397,3.43454e-005 false false false SNV 0x05010000000515053f000100 1 false 92 rs1891910 932457 true -Unknown __UNKNOWN__ hg19 1 944564 944564 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:944564T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATACATTTCTGTGGTGTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +ISG15 __UNKNOWN__ hg19 1 944564 944564 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:944564T>C ENST00000379389.4 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATACATTTCTGTGGTGTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AGRN __UNKNOWN__ hg19 1 962210 962210 + Intron SNP A A G 3128126 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:962210A>G ENST00000379370.2 + c.e2+4368A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATATCACCCCATGGACAGTCG 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6945,0.3055 false false 1 false true true AGRN:375790 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.661481,0.338519 false false false SNV 0x05010008000517053f000100 1 false 103 rs3128126 962210 true AGRN __UNKNOWN__ hg19 1 980903 980903 + Splice_Site SNP C C T 138248828 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:980903C>T ENST00000379370.2 + 14 2586 c.2536C>T c.(2536-2538)Ccc>Tcc p.P846S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTACACGTGAGTGACA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false AGRN:375790 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs138248828 980903 true AGRN __UNKNOWN__ hg19 1 981345 981345 + Splice_Site SNP C C T 118105080 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:981345C>T ENST00000379370.2 + 16 2732 c.2682C>T c.(2680-2682)gaC>gaT p.D894D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAGACGCTTCTGCGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.998,0.001997 false false 1 false false false AGRN:375790 false true false true true false false false false false false false false false false true true false false true false false 0 true 0 true 0.99976,0.000240401 false false false SNV 0x050128000305040436000100 1 false 132 rs118105080 981345 true AGRN __UNKNOWN__ hg19 1 981345 981345 + Splice_Site SNP C C T 118105080 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:981345C>T ENST00000379370.2 + 16 2732 c.2682C>T c.(2680-2682)gaC>gaT p.D894D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAGACGCTTCTGCGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.998,0.001997 false false 1 false false false AGRN:375790 false true false true true false false false false false false false false false false true true false false true false false 0 true 0 true 0.99976,0.000240401 false false false SNV 0x050128000305040436000100 1 false 132 rs118105080 981345 true AGRN __UNKNOWN__ hg19 1 984947 984947 + Splice_Site SNP G G A 200182409 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:984947G>A ENST00000379370.2 + 26 4566 c.4516G>A c.(4516-4518)Gcg>Acg p.A1506T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGGCAGGGCGCTGGAGCG 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.999,0.0009984 false false 1 false false false AGRN:375790 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040436000100 1 false 137 rs200182409 984947 true -AGRN __UNKNOWN__ hg19 1 985614 985614 + Splice_Site SNP C C T 144586153 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:985614C>T ENST00000379370.2 + 28 4931 c.4881C>T c.(4879-4881)gcC>gcT p.A1627A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTACAGCCTCGGGGCAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9998,0.0001997 false false 0 false false false AGRN:375790 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999691,0.000309087 false false false SNV 0x050000000305040436000100 1 false 134 rs144586153 985614 true -AGRN __UNKNOWN__ hg19 1 985614 985614 + Splice_Site SNP C C T 144586153 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:985614C>T ENST00000379370.2 + 28 4931 c.4881C>T c.(4879-4881)gcC>gcT p.A1627A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTACAGCCTCGGGGCAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9998,0.0001997 false false 0 false false false AGRN:375790 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999691,0.000309087 false false false SNV 0x050000000305040436000100 1 false 134 rs144586153 985614 true -AGRN __UNKNOWN__ hg19 1 990417 990417 + 3'UTR SNP T T C 2465136 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:990417T>C ENST00000379370.2 + 36 RP11-54O7.14_ENST00000418300.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAAACTTGTTGCTTTTTGAT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.616,0.384 false false 1 false true true AGRN:375790 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.565114,0.434886 false true false SNV 0x05010080000517053f000100 1 false 100 rs2465136 990417 true +AGRN __UNKNOWN__ hg19 1 985614 985614 + Splice_Site SNP C C T 144586153 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:985614C>T ENST00000379370.2 + 28 4931 c.4881C>T c.(4879-4881)gcC>gcT p.A1627A RP11-54O7.14_ENST00000418300.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTACAGCCTCGGGGCAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9998,0.0001997 false false 0 false false false AGRN:375790 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999691,0.000309087 false false false SNV 0x050000000305040436000100 1 false 134 rs144586153 985614 true +AGRN __UNKNOWN__ hg19 1 985614 985614 + Splice_Site SNP C C T 144586153 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:985614C>T ENST00000379370.2 + 28 4931 c.4881C>T c.(4879-4881)gcC>gcT p.A1627A RP11-54O7.14_ENST00000418300.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTACAGCCTCGGGGCAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9998,0.0001997 false false 0 false false false AGRN:375790 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999691,0.000309087 false false false SNV 0x050000000305040436000100 1 false 134 rs144586153 985614 true +AGRN __UNKNOWN__ hg19 1 990417 990417 + 3'UTR SNP T T C 2465136 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:990417T>C ENST00000379370.2 + 36 RP11-54O7.14_ENST00000418300.1_RNA|RP11-465B22.3_ENST00000427998.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAAACTTGTTGCTTTTTGAT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.616,0.384 false false 1 false true true AGRN:375790 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.565114,0.434886 false true false SNV 0x05010080000517053f000100 1 false 100 rs2465136 990417 true RP11-465B22.3 __UNKNOWN__ hg19 1 998395 998395 + RNA SNP A A G 7526076 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:998395A>G ENST00000427998.1 + c.e3-64A>G RP11-54O7.18_ENST00000442292.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGGAAACAATGAGGGAGGT 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1777,0.8223 false false 1 false true true LOC100288175:100288175 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.225771,0.774229 false false false SNV 0x05010008000517053f000100 1 false 116 rs7526076 998395 true C1orf159 __UNKNOWN__ hg19 1 1018704 1018704 + Intron SNP A A G 9442372 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1018704A>G ENST00000379339.1 - c.e12+337T>C C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGTAGTCCCAAGACCTCGAA 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.389,0.611 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.413524,0.586476 false false false SNV 0x05010008000517053f000101 1 false 119 rs9442372 1018704 true C1orf159 __UNKNOWN__ hg19 1 1021583 1021583 + Intron SNP A A C 10907178 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1021583A>C ENST00000379339.1 - c.e9+191T>G C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCCTGGGCATCTGGCCGCG 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8263,0.1737 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.814754,0.185246 false false false SNV 0x05010008000517053f000100 1 false 120 rs10907178 1021583 true -C1orf159 __UNKNOWN__ hg19 1 1030565 1030565 + Intron SNP C C T 6687776 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1030565C>T ENST00000379339.1 - c.e3+3082G>A C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATTAATTGCTTTGGCAATT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6933,0.3067 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.686242,0.313758 false false false SNV 0x05012808000517053f000101 1 false 116 rs6687776 1030565 true +C1orf159 __UNKNOWN__ hg19 1 1030565 1030565 + Intron SNP C C T 6687776 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1030565C>T ENST00000379339.1 - c.e3+3082G>A C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000379320.1_5'Flank|C1orf159_ENST00000482816.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATTAATTGCTTTGGCAATT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6933,0.3067 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.686242,0.313758 false false false SNV 0x05012808000517053f000101 1 false 116 rs6687776 1030565 true C1orf159 __UNKNOWN__ hg19 1 1040026 1040026 + Intron SNP T T C 6671356 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1040026T>C ENST00000379339.1 - c.e2-10376A>G C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCCTGCATGGTCTGGACA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7171,0.2829 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.710488,0.289512 false false false SNV 0x05010008000517053f000100 1 false 116 rs6671356 1040026 true Unknown __UNKNOWN__ hg19 1 1062638 1062638 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1062638C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCCCGCCGCAGCTTTAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1062638 1062638 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1062638C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCCCGCCGCAGCTTTAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1066403 1066403 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1066403T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCCGGCAATGGCATCCCAA 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1097335 1097335 + IGR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1097335T>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCTCTTCCTCTGGGAGATG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 1106784 1106784 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1106784T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGGCCAGTTCTGGAGAGG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TTLL10 __UNKNOWN__ hg19 1 1106784 1106784 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1106784T>C ENST00000379289.1 + TTLL10_ENST00000379290.1_5'Flank|TTLL10_ENST00000506177.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGGCCAGTTCTGGAGAGG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TTLL10 __UNKNOWN__ hg19 1 1110019 1110019 + Intron SNP A A G 11260542 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1110019A>G ENST00000379290.1 + c.e3+150A>G TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000506177.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACACGTCAGTCAGCATCT 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8554,0.1446 false false 1 false true false TTLL10:254173|TTLL10-AS1:100506376 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.84422,0.15578 false false false SNV 0x050100080005150537000100 1 false 120 rs11260542 1110019 true -TTLL10 __UNKNOWN__ hg19 1 1113121 1113121 + Intron SNP G G A 12092254 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1113121G>A ENST00000379290.1 + c.e4-1448G>A TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGCTGAGGGCCCATGAGAA 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8786,0.1214 false false 1 false true false TTLL10:254173|TTLL10-AS1:100506376 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.881997,0.118003 false false false SNV 0x0501000a0005150537000100 1 false 120 rs12092254 1113121 true -TTLL10 __UNKNOWN__ hg19 1 1115954 1115954 + Nonsense_Mutation SNP C C T 191284590 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1115954C>T ENST00000379290.1 + 7 771 c.598C>T c.(598-600)Cga>Tga p.R200* TTLL10_ENST00000379289.1_Nonsense_Mutation_p.R200*|TTLL10_ENST00000379288.3_Nonsense_Mutation_p.R127* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAAGAGCCGAGACAGCTA 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false TTLL10:254173 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000605040436000100 1 false 135 rs191284590 1115954 true +TTLL10 __UNKNOWN__ hg19 1 1113121 1113121 + Intron SNP G G A 12092254 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1113121G>A ENST00000379290.1 + c.e4-1448G>A TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379288.3_5'Flank|TTLL10-AS1_ENST00000379317.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGCTGAGGGCCCATGAGAA 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8786,0.1214 false false 1 false true false TTLL10:254173|TTLL10-AS1:100506376 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.881997,0.118003 false false false SNV 0x0501000a0005150537000100 1 false 120 rs12092254 1113121 true +TTLL10 __UNKNOWN__ hg19 1 1115954 1115954 + Nonsense_Mutation SNP C C T 191284590 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1115954C>T ENST00000379290.1 + 7 771 c.598C>T c.(598-600)Cga>Tga p.R200* TTLL10_ENST00000379289.1_Nonsense_Mutation_p.R200*|TTLL10_ENST00000379288.3_Nonsense_Mutation_p.R127*|TTLL10-AS1_ENST00000379317.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAAGAGCCGAGACAGCTA 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false TTLL10:254173 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000605040436000100 1 false 135 rs191284590 1115954 true TTLL10 __UNKNOWN__ hg19 1 1120488 1120488 + Splice_Site SNP A A C 74475385 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120488A>C ENST00000379290.1 + 13 1573 c.1400A>C c.(1399-1401)aAg>aCg p.K467T TTLL10_ENST00000379289.1_Splice_Site_p.K467T|TTLL10_ENST00000379288.3_Missense_Mutation_p.K394T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACCCTCAAGGTGCGTCCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9782,0.02177 false false 1 false true false TTLL10:254173 false true false true true false false false false false false true false false false false false false false true false true 0 true 0 false 0.971564,0.028436 false false false SNV 0x050300000a0515043e000100 1 false 131 rs74475385 1120488 true TTLL10 __UNKNOWN__ hg19 1 1120489 1120489 + Splice_Site SNP G G A 142263062 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120489G>A ENST00000379290.1 + 13 1574 c.1401G>A c.(1399-1401)aaG>aaA p.K467K TTLL10_ENST00000379289.1_Splice_Site_p.K467K|TTLL10_ENST00000379288.3_Silent_p.K394K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCCTCAAGGTGCGTCCAC 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9998,0.0001997 false false 0 false false false TTLL10:254173 false true false true true false false false false false false false false false false false false false false true false true 0 false 0 true false false false SNV 0x050200000305040436000100 1 false 134 rs142263062 1120489 true TTLL10 __UNKNOWN__ hg19 1 1120489 1120489 + Splice_Site SNP G G A 142263062 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120489G>A ENST00000379290.1 + 13 1574 c.1401G>A c.(1399-1401)aaG>aaA p.K467K TTLL10_ENST00000379289.1_Splice_Site_p.K467K|TTLL10_ENST00000379288.3_Silent_p.K394K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCCTCAAGGTGCGTCCAC 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9998,0.0001997 false false 0 false false false TTLL10:254173 false true false true true false false false false false false false false false false false false false false true false true 0 false 0 true false false false SNV 0x050200000305040436000100 1 false 134 rs142263062 1120489 true @@ -370,7 +370,7 @@ TNFRSF18 __UNKNOWN__ hg19 1 1139268 1139268 + Nonsense_Mutation SNP G G A 14258 TNFRSF18 __UNKNOWN__ hg19 1 1139287 1139287 + Silent SNP G G A 199916456 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139287G>A ENST00000379268.2 - 5 783 c.663C>T c.(661-663)ccC>ccT p.P221P TNFRSF18_ENST00000379265.5_Silent_p.P214P|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.P151L|TNFRSF18_ENST00000486728.1_Silent_p.P149P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCTTCCTCGGGGAACTGGC 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398,.,. false false 1 false false false TNFRSF18:8784 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 true 0.999863,0.000103029,3.4343e-005,. false false false SNV 0x050000000b05040436000100 1 false 137 rs199916456 1139287 true TNFRSF18 __UNKNOWN__ hg19 1 1139308 1139308 + Silent SNP G G A 201894449 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139308G>A ENST00000379268.2 - 5 762 c.642C>T c.(640-642)gaC>gaT p.D214D TNFRSF18_ENST00000379265.5_Silent_p.D207D|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.T144M|TNFRSF18_ENST00000486728.1_Silent_p.D142D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTTCTGGCGTCTTCGGTCG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987,. false false 0 false false false TNFRSF18:8784 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 true 0.999863,0.000137372,. false false false SNV 0x050000000b05040426000100 1 false 137 rs201894449 1139308 true TNFRSF18 __UNKNOWN__ hg19 1 1139320 1139320 + Silent SNP C C T 200096730 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139320C>T ENST00000379268.2 - 5 750 c.630G>A c.(628-630)ccG>ccA p.P210P TNFRSF18_ENST00000379265.5_Silent_p.P203P|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.R140H|TNFRSF18_ENST00000486728.1_Silent_p.P138P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCGGTCGACGGCGGCACCT 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false TNFRSF18:8784 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 true 0.999966,3.4343e-005 false false false SNV 0x050000000b05040426000100 1 false 137 rs200096730 1139320 true -TNFRSF18 __UNKNOWN__ hg19 1 1141765 1141765 + Splice_Site SNP C C T 72894038 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1141765C>T ENST00000379268.2 - 1 307 c.187G>A c.(187-189)Ggc>Agc p.G63S TNFRSF18_ENST00000379265.5_Splice_Site_p.G63S|TNFRSF18_ENST00000328596.6_Splice_Site_p.G63S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTACTTACCCGGGTAATCG 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9976,0.002396 false false 1 false false false TNFRSF18:8784 true true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99684,0.00315956 false false false SNV 0x050000000a0504053e000100 1 false 130 rs72894038 1141765 true +TNFRSF18 __UNKNOWN__ hg19 1 1141765 1141765 + Splice_Site SNP C C T 72894038 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1141765C>T ENST00000379268.2 - 1 307 c.187G>A c.(187-189)Ggc>Agc p.G63S TNFRSF18_ENST00000379265.5_Splice_Site_p.G63S|TNFRSF18_ENST00000328596.6_Splice_Site_p.G63S|TNFRSF18_ENST00000486728.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTACTTACCCGGGTAATCG 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9976,0.002396 false false 1 false false false TNFRSF18:8784 true true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99684,0.00315956 false false false SNV 0x050000000a0504053e000100 1 false 130 rs72894038 1141765 true SDF4 __UNKNOWN__ hg19 1 1153073 1153073 + Intron SNP G G A 199825378 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153073G>A ENST00000360001.6 - c.e7+5C>T SDF4_ENST00000263741.7_Missense_Mutation_p.R342C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAGCTCTGCGGGCGAGCGGG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false SDF4:51150 false true true true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999966,3.4343e-005 false false false SNV 0x050100080a05040436000100 1 false 137 rs199825378 1153073 true SDF4 __UNKNOWN__ hg19 1 1153099 1153099 + Intron SNP G G A 139298872 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153099G>A ENST00000360001.6 - c.e7+31C>T SDF4_ENST00000263741.7_Missense_Mutation_p.A333V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAGCGTCGCCTTTCCCCC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false SDF4:51150 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999073,0.000927261 false false false SNV 0x050000080a05040426000100 1 false 134 rs139298872 1153099 true SDF4 __UNKNOWN__ hg19 1 1153129 1153129 + Intron SNP C C T 72894044 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153129C>T ENST00000360001.6 - c.e7+61G>A SDF4_ENST00000263741.7_Missense_Mutation_p.R323Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGGCCAGCCGCACGAAGTG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9946,0.005391 false false 1 false false false SDF4:51150 true true true true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.993028,0.00697163 false false false SNV 0x050100080a0504053e000100 1 false 130 rs72894044 1153129 true @@ -382,9 +382,9 @@ FAM132A __UNKNOWN__ hg19 1 1178442 1178442 + Splice_Site SNP G G A 149401953 _ FAM132A __UNKNOWN__ hg19 1 1178848 1178848 + Nonsense_Mutation SNP G G A 115005664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1178848G>A ENST00000330388.2 - 5 648 c.616C>T c.(616-618)Cag>Tag p.Q206* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGAGAACTGGAAGATGCCG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9968,0.003195 false false 1 false false false FAM132A:388581 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.993474,0.00652562 false false false SNV 0x050000000605040436000100 1 false 132 rs115005664 1178848 true FAM132A __UNKNOWN__ hg19 1 1179619 1179619 + Nonsense_Mutation SNP C C A 201741650 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1179619C>A ENST00000330388.2 - 3 363 c.331G>T c.(331-333)Gaa>Taa p.E111* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGTCACTTCTGCACCTGGA 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false FAM132A:388581 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.43454e-005 false false false SNV 0x050000000605040402000100 1 false 137 rs201741650 1179619 true FAM132A __UNKNOWN__ hg19 1 1179762 1179762 + Splice_Site SNP G G A 149663992 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1179762G>A ENST00000330388.2 - 2 325 c.293C>T c.(292-294)cCg>cTg p.P98L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGCTCACCGGCTTCTTGTC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false FAM132A:388581 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.43454e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs149663992 1179762 true -UBE2J2 __UNKNOWN__ hg19 1 1203938 1203938 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1203938T>C ENST00000400930.4 - c.e2+566A>G UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000347370.2_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000491779.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCACTCACTGGGCAGAGCA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP5-902P8.10 __UNKNOWN__ hg19 1 1211292 1211292 + RNA SNP C C T 6685064 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1211292C>T ENST00000453732.1 + c.e1+613C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTATAGGCAGATTCAAAA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5695,0.4305 false false 1 false true false LOC101928895:101928895 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.693592,0.306408 false false false SNV 0x05010008000515053f000100 1 false 116 rs6685064 1211292 true -SCNN1D __UNKNOWN__ hg19 1 1216848 1216848 + Silent SNP G G A 34385715 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1216848G>A ENST00000379116.5 + 3 361 c.135G>A c.(133-135)tcG>tcA p.S45S SCNN1D_ENST00000338555.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGGGTTCGCCCCACCCCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9928,0.007188 false false 1 false false false SCNN1D:6339 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.9932,0.00679992 false false false SNV 0x050100000305040536000100 1 false 126 rs34385715 1216848 true +UBE2J2 __UNKNOWN__ hg19 1 1203938 1203938 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1203938T>C ENST00000400930.4 - c.e2+566A>G UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000347370.2_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCACTCACTGGGCAGAGCA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SCNN1D __UNKNOWN__ hg19 1 1211292 1211292 + 5'Flank SNP C C T 6685064 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1211292C>T ENST00000338555.2 + UBE2J2_ENST00000347370.2_5'Flank|UBE2J2_ENST00000348298.7_5'Flank|UBE2J2_ENST00000349431.6_5'Flank|UBE2J2_ENST00000360466.2_5'Flank|SCNN1D_ENST00000379116.5_5'Flank|UBE2J2_ENST00000400929.2_5'Flank|UBE2J2_ENST00000400930.4_5'Flank|UBE2J2_ENST00000491779.1_5'Flank|RP5-902P8.10_ENST00000453732.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTATAGGCAGATTCAAAA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5695,0.4305 false false 1 false true false LOC101928895:101928895 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.693592,0.306408 false false false SNV 0x05010008000515053f000100 1 false 116 rs6685064 1211292 true +SCNN1D __UNKNOWN__ hg19 1 1216848 1216848 + Silent SNP G G A 34385715 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1216848G>A ENST00000379116.5 + 3 361 c.135G>A c.(133-135)tcG>tcA p.S45S SCNN1D_ENST00000338555.2_5'UTR|SCNN1D_ENST00000325425.8_5'Flank|SCNN1D_ENST00000400928.3_5'Flank|SCNN1D_ENST00000467651.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGGGTTCGCCCCACCCCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9928,0.007188 false false 1 false false false SCNN1D:6339 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.9932,0.00679992 false false false SNV 0x050100000305040536000100 1 false 126 rs34385715 1216848 true SCNN1D __UNKNOWN__ hg19 1 1219456 1219456 + Silent SNP G G C 199854533 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1219456G>C ENST00000379116.5 + 5 676 c.450G>C c.(448-450)ggG>ggC p.G150G SCNN1D_ENST00000338555.2_Missense_Mutation_p.G18R|SCNN1D_ENST00000325425.8_Silent_p.G52G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G18R|SCNN1D_ENST00000467651.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACACGGGGGGGCTCTCACCT 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false SCNN1D:6339 false true false false true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999347,0.000653101 false false false SNV 0x050000000305040426000100 1 false 137 rs199854533 1219456 true SCNN1D __UNKNOWN__ hg19 1 1220954 1220954 + Silent SNP G G A 12751100 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1220954G>A ENST00000379116.5 + 6 694 c.468G>A c.(466-468)tcG>tcA p.S156S SCNN1D_ENST00000325425.8_Silent_p.S58S|SCNN1D_ENST00000338555.2_Intron|SCNN1D_ENST00000400928.3_Intron|SCNN1D_ENST00000467651.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTAGATCGCCTGGGCCTG 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5573,0.4427 false false 1 false true false SCNN1D:6339 true true true true true false false false false false false false false false false false false false false true false false 0 true 0 true 0.668315,0.331685 false false false SNV 0x05010008030515053e000100 1 false 121 rs12751100 1220954 true SCNN1D __UNKNOWN__ hg19 1 1221530 1221530 + Silent SNP C C T 146792102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1221530C>T ENST00000379116.5 + 7 1009 c.783C>T c.(781-783)gtC>gtT p.V261V SCNN1D_ENST00000338555.2_Silent_p.V97V|SCNN1D_ENST00000325425.8_Silent_p.V163V|SCNN1D_ENST00000400928.3_Silent_p.V97V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCCCTGGTCGCGCTCTGCT 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,.,0.0009984 false false 0 false false false SCNN1D:6339 false true false true true false false false false false false false false false false false false false false true false true 0 false 0 true 0.998798,.,0.00120209 false false false SNV 0x050200000305040436000100 1 false 134 rs146792102 1221530 true @@ -395,56 +395,56 @@ SCNN1D __UNKNOWN__ hg19 1 1222596 1222596 + Silent SNP C C T 146976973 byFreque SCNN1D __UNKNOWN__ hg19 1 1226777 1226777 + Silent SNP G G A 201221572 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1226777G>A ENST00000379116.5 + 18 2422 c.2196G>A c.(2194-2196)gcG>gcA p.A732A SCNN1D_ENST00000338555.2_Silent_p.A568A|SCNN1D_ENST00000325425.8_Silent_p.A634A|SCNN1D_ENST00000400928.3_Silent_p.A568A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGCAGGGCGTGGTTCTCCT 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SCNN1D:6339 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.99976,0.000240418 false false false SNV 0x050000000305040402000100 1 false 137 rs201221572 1226777 true SCNN1D __UNKNOWN__ hg19 1 1226867 1226867 + Silent SNP G G A 200302126 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1226867G>A ENST00000379116.5 + 18 2512 c.2286G>A c.(2284-2286)acG>acA p.T762T SCNN1D_ENST00000338555.2_Silent_p.T598T|SCNN1D_ENST00000325425.8_Silent_p.T664T|SCNN1D_ENST00000400928.3_Silent_p.T598T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGCGGCACGTCAGATGACC 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false SCNN1D:6339 false true false false true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999622,0.000377799 false false false SNV 0x050000000305040426000100 1 false 137 rs200302126 1226867 true ACAP3 __UNKNOWN__ hg19 1 1227897 1227897 + 3'UTR SNP A A G 3737721 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1227897A>G ENST00000354700.5 - 24 ACAP3_ENST00000353662.3_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCAGGGTCACAGGCAGCAG 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.772,0.228 false false 1 false true false SCNN1D:6339|ACAP3:116983 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.918916,0.0810839 false true false SNV 0x05010088000515053f000100 1 false 107 rs3737721 1227897 true -PUSL1 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246013G>A ENST00000379031.5 + c.e6-1G>A c.e6-1 PUSL1_ENST00000470520.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTTTTCCAGGAAGCTGCGG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PUSL1 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246013G>A ENST00000379031.5 + c.e6-1G>A c.e6-1 PUSL1_ENST00000470520.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTTTTCCAGGAAGCTGCGG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PUSL1 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATAGACAGGTAGGCTCTGT 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PUSL1 __UNKNOWN__ hg19 1 1246069 1246069 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246069G>A ENST00000379031.5 + c.e6+1G>A c.e6+1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATAGACAGGTAGGCTCTGT 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PUSL1 __UNKNOWN__ hg19 1 1246450 1246450 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246450C>T ENST00000379031.5 + 7 938 c.861C>T c.(859-861)ctC>ctT p.L287L ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGAACCTCGGTAAGAAAA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PUSL1 __UNKNOWN__ hg19 1 1246450 1246450 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246450C>T ENST00000379031.5 + 7 938 c.861C>T c.(859-861)ctC>ctT p.L287L ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGAACCTCGGTAAGAAAA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PUSL1 __UNKNOWN__ hg19 1 1246451 1246451 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246451G>A ENST00000379031.5 + 7 939 c.862G>A c.(862-864)Ggt>Agt p.G288S ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGAACCTCGGTAAGAAAAA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CPSF3L __UNKNOWN__ hg19 1 1247626 1247626 + Silent SNP G G A 201688337 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247626G>A ENST00000435064.1 - 15 1670 c.1587C>T c.(1585-1587)cgC>cgT p.R529R CPSF3L_ENST00000421495.2_Silent_p.R271R|CPSF3L_ENST00000450926.2_Silent_p.R507R|CPSF3L_ENST00000411962.1_Silent_p.R431R|CPSF3L_ENST00000419704.1_Silent_p.R428R|CPSF3L_ENST00000540437.1_Silent_p.R535R|CPSF3L_ENST00000545578.1_Silent_p.R500R|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGTAGACGCGCAATGCCG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false MIR6727:102465435|CPSF3L:54973 false true false false true false false false false false false false false false false false false true false true false false 0 false 0 true false false false SNV 0x050000040305040426000100 1 false 137 rs201688337 1247626 true +CPSF3L __UNKNOWN__ hg19 1 1247820 1247820 + Splice_Site SNP G G A 148274722 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247820G>A ENST00000435064.1 - 14 1547 c.1464C>T c.(1462-1464)agC>agT p.S488S CPSF3L_ENST00000421495.2_Splice_Site_p.S230S|CPSF3L_ENST00000450926.2_Splice_Site_p.S466S|CPSF3L_ENST00000411962.1_Splice_Site_p.S390S|CPSF3L_ENST00000419704.1_Splice_Site_p.S387S|CPSF3L_ENST00000540437.1_Splice_Site_p.S494S|CPSF3L_ENST00000545578.1_Splice_Site_p.S459S|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCACTCACGCTGTCCTTCA 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false MIR6727:102465435|CPSF3L:54973 false true true false false false false false false false false false false false false false false true false true false false 0 false 0 true 0.999863,0.000137372 false false false SNV 0x0500000c0305040402000100 1 false 134 rs148274722 1247820 true +CPSF3L __UNKNOWN__ hg19 1 1247820 1247820 + Splice_Site SNP G G A 148274722 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247820G>A ENST00000435064.1 - 14 1547 c.1464C>T c.(1462-1464)agC>agT p.S488S CPSF3L_ENST00000421495.2_Splice_Site_p.S230S|CPSF3L_ENST00000450926.2_Splice_Site_p.S466S|CPSF3L_ENST00000411962.1_Splice_Site_p.S390S|CPSF3L_ENST00000419704.1_Splice_Site_p.S387S|CPSF3L_ENST00000540437.1_Splice_Site_p.S494S|CPSF3L_ENST00000545578.1_Splice_Site_p.S459S|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCACTCACGCTGTCCTTCA 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false MIR6727:102465435|CPSF3L:54973 false true true false false false false false false false false false false false false false false true false true false false 0 false 0 true 0.999863,0.000137372 false false false SNV 0x0500000c0305040402000100 1 false 134 rs148274722 1247820 true +CPSF3L __UNKNOWN__ hg19 1 1247826 1247826 + Silent SNP C C T 202118836 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247826C>T ENST00000435064.1 - 14 1541 c.1458G>A c.(1456-1458)aaG>aaA p.K486K CPSF3L_ENST00000421495.2_Silent_p.K228K|CPSF3L_ENST00000450926.2_Silent_p.K464K|CPSF3L_ENST00000411962.1_Silent_p.K388K|CPSF3L_ENST00000419704.1_Silent_p.K385K|CPSF3L_ENST00000540437.1_Silent_p.K492K|CPSF3L_ENST00000545578.1_Silent_p.K457K|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACGCTGTCCTTCATGATCA 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIR6727:102465435|CPSF3L:54973 false true true false false false false false false false false false false false false false false true false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x0500000c0305040402000100 1 false 137 rs202118836 1247826 true +CPSF3L __UNKNOWN__ hg19 1 1248046 1248046 + Silent SNP C C T 147953341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1248046C>T ENST00000435064.1 - 13 1412 c.1329G>A c.(1327-1329)acG>acA p.T443T CPSF3L_ENST00000421495.2_Silent_p.T185T|CPSF3L_ENST00000450926.2_Silent_p.T421T|CPSF3L_ENST00000411962.1_Silent_p.T345T|CPSF3L_ENST00000419704.1_Silent_p.T342T|CPSF3L_ENST00000540437.1_Silent_p.T449T|CPSF3L_ENST00000545578.1_Silent_p.T414T|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGCGTCACCGTCTCGCCAT 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false MIR6727:102465435|CPSF3L:54973 false true false false true false false false false false false false false false false false false false true true false true 0 false 0 true 0.999554,0.000446459 false false false SNV 0x050200020305040426000100 1 false 134 rs147953341 1248046 true +CPSF3L __UNKNOWN__ hg19 1 1248329 1248329 + Splice_Site SNP G G A 56104163 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1248329G>A ENST00000435064.1 - 12 1215 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L CPSF3L_ENST00000421495.2_Splice_Site_p.L120L|CPSF3L_ENST00000450926.2_Splice_Site_p.L356L|CPSF3L_ENST00000411962.1_Splice_Site_p.L280L|CPSF3L_ENST00000419704.1_Splice_Site_p.L277L|CPSF3L_ENST00000540437.1_Splice_Site_p.L384L|CPSF3L_ENST00000545578.1_Splice_Site_p.L349L|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACCTCCAGCTACAGAGGC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9982,0.001797 false false 1 false false false MIR6727:102465435|CPSF3L:54973 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.997321,0.00267876 false false false SNV 0x050300020305040436000100 1 false 129 rs56104163 1248329 true +CPSF3L __UNKNOWN__ hg19 1 1248329 1248329 + Splice_Site SNP G G A 56104163 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1248329G>A ENST00000435064.1 - 12 1215 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L CPSF3L_ENST00000421495.2_Splice_Site_p.L120L|CPSF3L_ENST00000450926.2_Splice_Site_p.L356L|CPSF3L_ENST00000411962.1_Splice_Site_p.L280L|CPSF3L_ENST00000419704.1_Splice_Site_p.L277L|CPSF3L_ENST00000540437.1_Splice_Site_p.L384L|CPSF3L_ENST00000545578.1_Splice_Site_p.L349L|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACCTCCAGCTACAGAGGC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9982,0.001797 false false 1 false false false MIR6727:102465435|CPSF3L:54973 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.997321,0.00267876 false false false SNV 0x050300020305040436000100 1 false 129 rs56104163 1248329 true CPSF3L __UNKNOWN__ hg19 1 1249193 1249194 + Frame_Shift_Ins INS - - GCAA 752230074 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1249193_1249194insGCAA ENST00000435064.1 - 9 959 c.875_876insTTGC c.(874-876)aagfs p.K292fs CPSF3L_ENST00000421495.2_Frame_Shift_Ins_p.K34fs|CPSF3L_ENST00000450926.2_Frame_Shift_Ins_p.K270fs|CPSF3L_ENST00000411962.1_Frame_Shift_Ins_p.K194fs|CPSF3L_ENST00000419704.1_Frame_Shift_Ins_p.K191fs|CPSF3L_ENST00000540437.1_Frame_Shift_Ins_p.K298fs|CPSF3L_ENST00000545578.1_Frame_Shift_Ins_p.K263fs|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGAAAGTCTTGCGGATCT 0.6325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIR6727:102465435|CPSF3L:54973 false true false false false false false false false false true false false false false false false false true true false false 0 false 0 false false false false DIV 0x050000021205000402000200 1 false 144 rs752230074 1249193 false CPSF3L __UNKNOWN__ hg19 1 1250794 1250794 + Nonsense_Mutation SNP G G A 373723769 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1250794G>A ENST00000435064.1 - 6 636 c.553C>T c.(553-555)Cga>Tga p.R185* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R163*|CPSF3L_ENST00000411962.1_Nonsense_Mutation_p.R87*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R84*|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R191*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.R156*|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAAGTGTCGGTCTGGGGTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true false false false false false false false false false true true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000e05040402000100 1 false 138 rs373723769 1250794 true -CPSF3L __UNKNOWN__ hg19 1 1254255 1254255 + Intron SNP G G A 62623580 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254255G>A ENST00000435064.1 - c.e4-421C>T CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTTCCCTGACCCACACCC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9373,0.0627 false false 1 false true false CPSF3L:54973 false true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.946974,0.0530256 false false false SNV 0x0501000a0005150436000100 1 false 129 rs62623580 1254255 true -CPSF3L __UNKNOWN__ hg19 1 1254678 1254678 + Nonsense_Mutation SNP G G A 200207309 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254678G>A ENST00000435064.1 - 4 510 c.427C>T c.(427-429)Cag>Tag p.Q143* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGACCTGGACCGTCTGG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true true false false false false false false false false false true false false false false false true true false true 0 false 0 false false false false SNV 0x0502000a0605000402000100 1 false 137 rs200207309 1254678 false -CPSF3L __UNKNOWN__ hg19 1 1254694 1254694 + Silent SNP G G A 145964828 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254694G>A ENST00000435064.1 - 4 494 c.411C>T c.(409-411)caC>caT p.H137H CPSF3L_ENST00000450926.2_Silent_p.H137H|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Silent_p.H143H|CPSF3L_ENST00000545578.1_Silent_p.H108H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGGTGGAGGTGGACAGCCA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true true false false false false false false false false false false false false false false false true true false true 0 false 0 true false false false SNV 0x0502000a0305040402000100 1 false 134 rs145964828 1254694 true -CPSF3L __UNKNOWN__ hg19 1 1256453 1256453 + Nonsense_Mutation SNP G G A 200498230 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1256453G>A ENST00000435064.1 - 2 132 c.49C>T c.(49-51)Cga>Tga p.R17* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGCTTCGGCCCACGTCC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false CPSF3L:54973 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false true SNV 0x050200480605040436000100 1 false 137 rs200498230 1256453 true -CPSF3L __UNKNOWN__ hg19 1 1258246 1258246 + Intron SNP A A C 3845293 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1258246A>C ENST00000435064.1 - c.e1-1715T>G CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGCGGTGAAACAGGACTT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2829,0.7171,. false false 1 false true true CPTP:80772|CPSF3L:54973 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x0501000a0005170537000100 1 false 108 rs3845293 1258246 true -Unknown __UNKNOWN__ hg19 1 1264539 1264539 + IGR SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1264539G>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGAGAGAGACAGAGTCAC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CPSF3L __UNKNOWN__ hg19 1 1254255 1254255 + Intron SNP G G A 62623580 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254255G>A ENST00000435064.1 - c.e4-421C>T CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|CPSF3L_ENST00000462432.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTTCCCTGACCCACACCC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9373,0.0627 false false 1 false true false CPSF3L:54973 false true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.946974,0.0530256 false false false SNV 0x0501000a0005150436000100 1 false 129 rs62623580 1254255 true +CPSF3L __UNKNOWN__ hg19 1 1254678 1254678 + Nonsense_Mutation SNP G G A 200207309 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254678G>A ENST00000435064.1 - 4 510 c.427C>T c.(427-429)Cag>Tag p.Q143* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|CPSF3L_ENST00000462432.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGACCTGGACCGTCTGG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true true false false false false false false false false false true false false false false false true true false true 0 false 0 false false false false SNV 0x0502000a0605000402000100 1 false 137 rs200207309 1254678 false +CPSF3L __UNKNOWN__ hg19 1 1254694 1254694 + Silent SNP G G A 145964828 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254694G>A ENST00000435064.1 - 4 494 c.411C>T c.(409-411)caC>caT p.H137H CPSF3L_ENST00000450926.2_Silent_p.H137H|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Silent_p.H143H|CPSF3L_ENST00000545578.1_Silent_p.H108H|CPSF3L_ENST00000462432.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGGTGGAGGTGGACAGCCA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true true false false false false false false false false false false false false false false false true true false true 0 false 0 true false false false SNV 0x0502000a0305040402000100 1 false 134 rs145964828 1254694 true +CPSF3L __UNKNOWN__ hg19 1 1256453 1256453 + Nonsense_Mutation SNP G G A 200498230 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1256453G>A ENST00000435064.1 - 2 132 c.49C>T c.(49-51)Cga>Tga p.R17* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGCTTCGGCCCACGTCC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false CPSF3L:54973 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false true SNV 0x050200480605040436000100 1 false 137 rs200498230 1256453 true +CPSF3L __UNKNOWN__ hg19 1 1258246 1258246 + Intron SNP A A C 3845293 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1258246A>C ENST00000435064.1 - c.e1-1715T>G CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|GLTPD1_ENST00000343938.4_5'Flank|GLTPD1_ENST00000464957.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGCGGTGAAACAGGACTT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2829,0.7171,. false false 1 false true true CPTP:80772|CPSF3L:54973 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x0501000a0005170537000100 1 false 108 rs3845293 1258246 true +CPSF3L __UNKNOWN__ hg19 1 1264539 1264539 + 5'Flank SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1264539G>C ENST00000411962.1 - CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGAGAGAGACAGAGTCAC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DVL1 __UNKNOWN__ hg19 1 1275882 1275882 + Splice_Site SNP G G A 148942048 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1275882G>A ENST00000378888.5 - 6 892 c.607C>T c.(607-609)Ctc>Ttc p.L203F DVL1_ENST00000378891.5_Splice_Site_p.L203F __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGCTGAGCCTGGGAACA 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9992,0.0007987,. false false 1 false false false MIR6808:102466740|DVL1:1855 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.998901,0.00106463,3.4343e-005 false false false SNV 0x050000020a05040436000100 1 false 134 rs148942048 1275882 true DVL1 __UNKNOWN__ hg19 1 1275883 1275883 + Splice_Site SNP C C T 143175544 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1275883C>T ENST00000378888.5 - 6 891 c.606G>A c.(604-606)agG>agA p.R202R DVL1_ENST00000378891.5_Splice_Site_p.R202R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGCTGAGCCTGGGAACAG 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9988,0.001198 false false 1 false false false MIR6808:102466740|DVL1:1855 false true false true true false false false false false false false false false false false false false true true false false 0 false 0 true 0.999038,0.000961605 false false false SNV 0x050000020305040436000100 1 false 134 rs143175544 1275883 true DVL1 __UNKNOWN__ hg19 1 1275883 1275883 + Splice_Site SNP C C T 143175544 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1275883C>T ENST00000378888.5 - 6 891 c.606G>A c.(604-606)agG>agA p.R202R DVL1_ENST00000378891.5_Splice_Site_p.R202R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGCTGAGCCTGGGAACAG 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9988,0.001198 false false 1 false false false MIR6808:102466740|DVL1:1855 false true false true true false false false false false false false false false false false false false true true false false 0 false 0 true 0.999038,0.000961605 false false false SNV 0x050000020305040436000100 1 false 134 rs143175544 1275883 true DVL1 __UNKNOWN__ hg19 1 1277184 1277184 + Splice_Site SNP G G A 201343862 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1277184G>A ENST00000378888.5 - 5 753 c.468C>T c.(466-468)gcC>gcT p.A156A DVL1_ENST00000378891.5_Splice_Site_p.A156A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTCCGGGCGGCTGTGGGGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.998,0.001997 false false 1 false false false DVL1:1855 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000000305040436000100 1 false 137 rs201343862 1277184 true DVL1 __UNKNOWN__ hg19 1 1277184 1277184 + Splice_Site SNP G G A 201343862 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1277184G>A ENST00000378888.5 - 5 753 c.468C>T c.(466-468)gcC>gcT p.A156A DVL1_ENST00000378891.5_Splice_Site_p.A156A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTCCGGGCGGCTGTGGGGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.998,0.001997 false false 1 false false false DVL1:1855 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000000305040436000100 1 false 137 rs201343862 1277184 true -Unknown __UNKNOWN__ hg19 1 1287127 1287127 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1287127G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCAGGCAGGAAGACCTAAG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DVL1 __UNKNOWN__ hg19 1 1287127 1287127 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1287127G>A ENST00000378888.5 - DVL1_ENST00000378891.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCAGGCAGGAAGACCTAAG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1305561 1305561 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1305561C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATGGCTTCCCGGCAAGTTAA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AURKAIP1 __UNKNOWN__ hg19 1 1309583 1309583 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1309583G>A ENST00000338370.3 - 2 696 c.295C>T c.(295-297)Caa>Taa p.Q99* AURKAIP1_ENST00000338338.5_Nonsense_Mutation_p.Q99*|AURKAIP1_ENST00000378853.3_Nonsense_Mutation_p.Q99*|AURKAIP1_ENST00000321751.5_Nonsense_Mutation_p.Q99* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTAGGATTGCGGTGGAGCC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP4-758J18.2 __UNKNOWN__ hg19 1 1335302 1335302 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1335302C>T ENST00000448629.2 + c.e1+233C>T RP4-758J18.2_ENST00000444362.1_Intron|RP4-758J18.2_ENST00000576232.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACACTCAGCCCCTGGGGAGA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP4-758J18.2 __UNKNOWN__ hg19 1 1335790 1335790 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1335790A>G ENST00000448629.2 + c.e2+107A>G RP4-758J18.2_ENST00000576232.1_3'UTR|RP4-758J18.2_ENST00000444362.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGCCAGTAACTGCCCAGC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP4-758J18.2 __UNKNOWN__ hg19 1 1335302 1335302 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1335302C>T ENST00000448629.2 + c.e1+233C>T 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false false false false ATAD3C __UNKNOWN__ hg19 1 1396296 1396296 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1396296C>T ENST00000378785.2 + 10 1974 c.979C>T c.(979-981)Cgg>Tgg p.R327W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAGGAAAGCGGTAAGTGTC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ATAD3C __UNKNOWN__ hg19 1 1396297 1396297 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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false false false false false false false false false false false false false false false false false @@ -453,7 +453,7 @@ TMEM240 __UNKNOWN__ hg19 1 1474167 1474167 + Intron SNP A A G __UNKNOWN__ __U SSU72 __UNKNOWN__ hg19 1 1485984 1485984 + Intron SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1485984C>A ENST00000291386.3 - c.e3+5602G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCCCCCCTCAAGTGCCT 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SSU72 __UNKNOWN__ hg19 1 1489670 1489670 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1489670C>T ENST00000291386.3 - c.e3+9288G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCACGAGACGGATCCGGAC 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1521595 1521595 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1521595A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAAGAGGACAGCCAGAAGAG 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -MIB2 __UNKNOWN__ hg19 1 1550992 1550992 + Nonsense_Mutation SNP C C A 199741261 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1550992C>A ENST00000505820.2 + 1 170 c.153C>A c.(151-153)tgC>tgA p.C51* MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|RP11-345P4.9_ENST00000607222.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCGCGATGCGGGCCGTCCT 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIB2:142678 false true false false false false false false false false false false true false false false false false true true false false 0 true 0 false 0.998798,0.00120201 false false false SNV 0x050100020605040402000100 1 false 137 rs199741261 1550992 true +MIB2 __UNKNOWN__ hg19 1 1550992 1550992 + Nonsense_Mutation SNP C C A 199741261 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1550992C>A ENST00000505820.2 + 1 170 c.153C>A c.(151-153)tgC>tgA p.C51* MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|MIB2_ENST00000378708.1_5'Flank|MIB2_ENST00000378712.1_5'Flank|MIB2_ENST00000504599.1_5'Flank|RP11-345P4.9_ENST00000607222.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCGCGATGCGGGCCGTCCT 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIB2:142678 false true false false false false false false false false false false true false false false false false true true false false 0 true 0 false 0.998798,0.00120201 false false false SNV 0x050100020605040402000100 1 false 137 rs199741261 1550992 true MIB2 __UNKNOWN__ hg19 1 1560103 1560103 + Intron SNP C C T 28635343 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1560103C>T ENST00000505820.2 + c.e5-72C>T MIB2_ENST00000520777.1_Intron|MIB2_ENST00000504599.1_Intron|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000357210.4_Intron|MIB2_ENST00000360522.4_Intron|MIB2_ENST00000378710.3_Intron|MIB2_ENST00000512004.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCATCGCTCTCCCAAGTGG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7596,0.2404 false false 1 false true true MIB2:142678 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.816265,0.183735 false false false SNV 0x050100080005170536000100 1 false 125 rs28635343 1560103 true MIB2 __UNKNOWN__ hg19 1 1562786 1562786 + Silent SNP C C T 75855249 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1562786C>T ENST00000505820.2 + 12 1847 c.1830C>T c.(1828-1830)gaC>gaT p.D610D MIB2_ENST00000520777.1_Silent_p.D606D|MIB2_ENST00000504599.1_Silent_p.D509D|MIB2_ENST00000355826.5_Silent_p.D596D|MIB2_ENST00000378708.1_Silent_p.D459D|MIB2_ENST00000518681.1_Silent_p.D545D|MIB2_ENST00000378712.1_Silent_p.D430D|MIB2_ENST00000357210.4_Silent_p.D553D|MIB2_ENST00000360522.4_Silent_p.D518D|MIB2_ENST00000378710.3_Silent_p.D517D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGCCGGACGACGAGGGCA 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.992,0.007987 false false 1 false false false MIB2:142678 false true false true true false false false false false false false false false false false false false false true false true 0 true 0 true 0.981249,0.0187513 false false false SNV 0x050300000305040436000100 1 false 131 rs75855249 1562786 true MIB2 __UNKNOWN__ hg19 1 1565032 1565032 + Silent SNP G G A 200777664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1565032G>A ENST00000505820.2 + 19 2939 c.2922G>A c.(2920-2922)agG>agA p.R974R MIB2_ENST00000520777.1_Silent_p.R970R|MIB2_ENST00000504599.1_Silent_p.R873R|MIB2_ENST00000355826.5_Silent_p.R960R|MIB2_ENST00000378708.1_Silent_p.R823R|MIB2_ENST00000378712.1_Missense_Mutation_p.D734N|MIB2_ENST00000518681.1_Silent_p.R909R|MIB2_ENST00000357210.4_Silent_p.R917R|MIB2_ENST00000360522.4_Silent_p.R882R|MIB2_ENST00000378710.3_Silent_p.R881R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGCGCGCAGGATGAAGAAGT 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false MIB2:142678 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 true 0.99945,0.000549526 false false false SNV 0x050000000b05040426000100 1 false 137 rs200777664 1565032 true @@ -472,13 +472,13 @@ SLC35E2 __UNKNOWN__ hg19 1 1663831 1663831 + Intron SNP C C T 3817856 byFrequen SLC35E2 __UNKNOWN__ hg19 1 1663944 1663944 + Intron SNP G G A 146969326 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1663944G>A ENST00000355439.2 - c.e6-2185C>T SLC35E2_ENST00000246421.4_Nonsense_Mutation_p.R251*|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCGACTCGGTGCAGGGCC 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false LOC101928920:101928920|SLC35E2:9906 false true true true true false false false false false false false true false false false false false true true false false 0 false 0 false 0.998589,0.00141058 false false false SNV 0x0500000a0605040436000100 1 false 134 rs146969326 1663944 true SLC35E2 __UNKNOWN__ hg19 1 1664019 1664019 + Intron SNP T T C 2294488 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1664019T>C ENST00000355439.2 - c.e6-2110A>G SLC35E2_ENST00000246421.4_Intron|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCGTGCGTGGTGCACAGC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3131,0.6869 false false 1 false true true LOC101928920:101928920|SLC35E2:9906 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x0501000a000517053f000100 1 false 100 rs2294488 1664019 true SLC35E2 __UNKNOWN__ hg19 1 1664124 1664124 + Intron SNP T T C 2294489 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1664124T>C ENST00000355439.2 - c.e6-2005A>G SLC35E2_ENST00000246421.4_Intron|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCACCATTCCCGCCAGCC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4091,0.5909 false false 1 false true false SLC35E2:9906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false false false false SNV 0x05010008000515053f000100 1 false 100 rs2294489 1664124 true -Unknown __UNKNOWN__ hg19 1 1680219 1680219 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1680219G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCAGGCGCTGTGCAAAC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SLC35E2 __UNKNOWN__ hg19 1 1680219 1680219 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1680219G>A ENST00000246421.4 - SLC35E2_ENST00000355439.2_5'Flank|SLC35E2_ENST00000400924.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCAGGCGCTGTGCAAAC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NADK __UNKNOWN__ hg19 1 1684472 1684472 + Silent SNP C C T 7407 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1684472C>T ENST00000344463.4 - 14 1869 c.1647G>A c.(1645-1647)ccG>ccA p.P549P NADK_ENST00000378625.1_Silent_p.P549P|NADK_ENST00000341426.5_Silent_p.P404P|NADK_ENST00000341991.3_Silent_p.P404P|NADK_ENST00000342348.5_Silent_p.P372P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAGGGGAGCGGGTAGCATG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6603,0.3397 false false 1 false true false NADK:65220 true true false true true false false false false false false false false false false false false false false true true true 0 true 0 true 0.650972,0.349028 false false false SNV 0x05030000030515053f000100 1 false 52 rs7407 1684472 true NADK __UNKNOWN__ hg19 1 1688096 1688096 + Splice_Site SNP C C T 72634841 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1688096C>T ENST00000344463.4 - 7 1002 c.780G>A c.(778-780)ccG>ccA p.P260P NADK_ENST00000378625.1_Splice_Site_p.P260P|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCCACCCTCCTGCAGGGAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.997,0.002995 false false 1 false false false NADK:65220 false true true true true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997115,0.00288481 false false false SNV 0x05020008030504043e000100 1 false 130 rs72634841 1688096 true NADK __UNKNOWN__ hg19 1 1688096 1688096 + Splice_Site SNP C C T 72634841 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1688096C>T ENST00000344463.4 - 7 1002 c.780G>A c.(778-780)ccG>ccA p.P260P NADK_ENST00000378625.1_Splice_Site_p.P260P|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCCACCCTCCTGCAGGGAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.997,0.002995 false false 1 false false false NADK:65220 false true true true true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997115,0.00288481 false false false SNV 0x05020008030504043e000100 1 false 130 rs72634841 1688096 true NADK __UNKNOWN__ hg19 1 1706136 1706136 + Intron SNP T T C 6603811 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1706136T>C ENST00000344463.4 - c.e1-3592A>G NADK_ENST00000378625.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACAAGGGTGAGTCAGGAC 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2534,0.7466 false false 1 false true false NADK:65220 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.237688,0.762312 false false false SNV 0x05010008000515053f000100 1 false 116 rs6603811 1706136 true NADK __UNKNOWN__ hg19 1 1707740 1707740 + Intron SNP T T G 12041925 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1707740T>G ENST00000344463.4 - c.e1-1988A>C NADK_ENST00000378625.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAACTTTCTGGGACACCCT 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8019,0.1981 false false 1 false true true NADK:65220 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.749193,0.250807 false false false SNV 0x05010008000517053f000100 1 false 120 rs12041925 1707740 true -Unknown __UNKNOWN__ hg19 1 1715011 1715011 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1715011C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCACCTTGCCTGGAGCAGG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +NADK __UNKNOWN__ hg19 1 1715011 1715011 + 5'Flank SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1715011C>A ENST00000341991.3 - NADK_ENST00000378625.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCACCTTGCCTGGAGCAGG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GNB1 __UNKNOWN__ hg19 1 1720670 1720670 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1720670G>A ENST00000378609.4 - 10 1070 c.738C>T c.(736-738)gaC>gaT p.D246D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGGCGTCGTCTGAGCCAG 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GNB1 __UNKNOWN__ hg19 1 1766856 1766856 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1766856A>G ENST00000378609.4 - c.e2-3773T>C GNB1_ENST00000472614.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTAGAATCCATGCAAGCCCC 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GNB1 __UNKNOWN__ hg19 1 1776269 1776269 + Intron SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1776269C>A ENST00000378609.4 - c.e2+5592G>T GNB1_ENST00000472614.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTGGTGCACATGTAACATA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -486,11 +486,11 @@ GNB1 __UNKNOWN__ hg19 1 1804302 1804302 + Intron SNP C C T __UNKNOWN__ __UNKN GNB1 __UNKNOWN__ hg19 1 1810090 1810090 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA 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false false false false false false false false false false false false false false false false -CALML6 __UNKNOWN__ hg19 1 1846765 1846765 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1846765G>A ENST00000307786.3 + c.e1+19G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACAGCATGGGACCAGGGTC 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CALML6 __UNKNOWN__ hg19 1 1846765 1846765 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1846765G>A ENST00000307786.3 + c.e1+19G>A CALML6_ENST00000462293.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACAGCATGGGACCAGGGTC 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CALML6 __UNKNOWN__ hg19 1 1847531 1847531 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1847531C>T ENST00000307786.3 + c.e3-349C>T CALML6_ENST00000462293.1_Intron __UNKNOWN__ __UNKNOWN__ 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false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 1854321 1854321 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1854321A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCTGTCAGGACAAGCCC 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 1855655 1855655 + IGR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCATTGGACAGAAATCCTGC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM52 __UNKNOWN__ hg19 1 1854321 1854321 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1854321A>G ENST00000310991.3 - TMEM52_ENST00000378602.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCTGTCAGGACAAGCCC 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM52 __UNKNOWN__ hg19 1 1855655 1855655 + 5'Flank SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1855655G>T ENST00000310991.3 - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCGCCAGCTCACCGACC 0.7306733167082294 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1865298 1865298 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1865298A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATTCTTGAAAAGGAAGCTT 0.39900249376558605 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1886519 1886519 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1886519C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGGAAGTGCGGCTCACACA 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1887019 1887019 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1887019A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGAAGGCCTAGGAAAATTCT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -540,7 +540,7 @@ Unknown __UNKNOWN__ hg19 1 1918445 1918445 + IGR SNP C C T __UNKNOWN__ __UNKN Unknown __UNKNOWN__ hg19 1 1918475 1918475 + IGR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1918475C>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCTCCCCTCTGGAACAGGG 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false C1orf222 __UNKNOWN__ hg19 1 1930754 1930754 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1930754C>T ENST00000434971.2 - c.e1-4386G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGAATGGACATCTTTGTCG 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1941929 1941929 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1941929G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTTCAGACGGTCAAACAGC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-547D24.1 __UNKNOWN__ hg19 1 1946591 1946591 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1946591G>A ENST00000443930.1 - c.e2+152C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCGAGCGCCGTTTCCTCTCC 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +GABRD __UNKNOWN__ hg19 1 1946591 1946591 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1946591G>A ENST00000378585.4 + RP11-547D24.1_ENST00000443930.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCGAGCGCCGTTTCCTCTCC 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GABRD __UNKNOWN__ hg19 1 1956414 1956414 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1956414C>T ENST00000378585.4 + 2 185 c.102C>T c.(100-102)tcC>tcT p.S34S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTGGGCTCCAACCTGGAGA 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GABRD __UNKNOWN__ hg19 1 1959595 1959595 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1959595C>T ENST00000378585.4 + 6 638 c.555C>T c.(553-555)taC>taT p.Y185Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTCCAGACGGTTACTCAT 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GABRD __UNKNOWN__ hg19 1 1959595 1959595 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1959595C>T ENST00000378585.4 + 6 638 c.555C>T c.(553-555)taC>taT p.Y185Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTCCAGACGGTTACTCAT 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -551,34 +551,34 @@ Unknown __UNKNOWN__ hg19 1 1967954 1967954 + IGR SNP C C T __UNKNOWN__ __UNKN Unknown __UNKNOWN__ hg19 1 1979253 1979253 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1979253G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCAGGACGGAGGCTCCCG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1986954 1986954 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1986954G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACATGTGTCGTCTGCACCAG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1992748 1992748 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1992748C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCTGTCTACGACCTCGGCA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 2004098 2004098 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2004098G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTTGGTGGGTTTGCATTTG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PRKCZ __UNKNOWN__ hg19 1 2004098 2004098 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2004098G>A ENST00000400921.2 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTTGGTGGGTTTGCATTTG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRKCZ __UNKNOWN__ hg19 1 2017297 2017297 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2017297T>C ENST00000400921.2 + c.e1+11929T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTCTGCACTCATGGGTGGG 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRKCZ __UNKNOWN__ hg19 1 2024064 2024064 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C1orf86 __UNKNOWN__ hg19 1 2135002 2135002 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2135002C>T ENST00000378545.3 - C1orf86_ENST00000487186.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCTCACCTGGGGTGGA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C1orf86 __UNKNOWN__ hg19 1 2135002 2135002 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2135002C>T ENST00000378545.3 - C1orf86_ENST00000487186.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCTCACCTGGGGTGGA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C1orf86 __UNKNOWN__ hg19 1 2143168 2143168 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2143168A>G ENST00000487186.1 - c.e2-643T>C RP11-181G12.4_ENST00000442483.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTACAGGCATGAGCCACCG 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +AL590822.1 __UNKNOWN__ hg19 1 2143491 2143491 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2143491G>A ENST00000545087.1 - 1 C1orf86_ENST00000487186.1_Intron|RP11-181G12.4_ENST00000442483.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGGCGCCCGCCACCACGCC 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C1orf86 __UNKNOWN__ hg19 1 2146966 2146966 + 5'Flank SNP T T C 7512482 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2146966T>C ENST00000487186.1 - AL590822.1_ENST00000545087.1_5'Flank|RP11-181G12.4_ENST00000442483.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACCTGCGTGAAGGAGCCC 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7963,0.2037 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.761969,0.238031 false false false SNV 0x05010000000517053f000100 1 false 116 rs7512482 2146966 true +SKI __UNKNOWN__ hg19 1 2156362 2156362 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2156362A>G ENST00000378536.4 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCTCAGGAAGAAAAGTGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SKI __UNKNOWN__ hg19 1 2173504 2173504 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2173504T>C ENST00000378536.4 + c.e1+12330T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATATCTTGTTGGGAGGCAG 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SKI __UNKNOWN__ hg19 1 2173811 2173811 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2173811C>T ENST00000378536.4 + c.e1+12637C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTTGTTCACGTCAGGGGAG 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SKI __UNKNOWN__ hg19 1 2180524 2180524 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2180524G>A ENST00000378536.4 + c.e1+19350G>A SKI_ENST00000478223.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCAGATGCGGTCGAGTGCT 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -591,7 +591,7 @@ SKI __UNKNOWN__ hg19 1 2216368 2216368 + Intron SNP T T G __UNKNOWN__ __UNKNO SKI __UNKNOWN__ hg19 1 2220649 2220649 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2220649C>T ENST00000378536.4 + c.e2-13768C>T SKI_ENST00000478223.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGTTGAGCCTCTCTAGGCA 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SKI __UNKNOWN__ hg19 1 2223866 2223866 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2223866C>T ENST00000378536.4 + c.e2-10551C>T SKI_ENST00000478223.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTAGCAGACGTTCATCAGG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 2242298 2242298 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2242298G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCATGCCGCATGCCAATT 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -MORN1 __UNKNOWN__ hg19 1 2254910 2254910 + Intron SNP T T C 2645075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2254910T>C ENST00000378531.3 - c.e13-626A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGCCGCGGTGCCCAGGTCC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1851,0.8149 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.184606,0.815394 false false false SNV 0x05010008000515053f000100 1 false 100 rs2645075 2254910 true +MORN1 __UNKNOWN__ hg19 1 2254910 2254910 + Intron SNP T T C 2645075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2254910T>C ENST00000378531.3 - c.e13-626A>G AL589739.1_ENST00000600779.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGCCGCGGTGCCCAGGTCC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1851,0.8149 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.184606,0.815394 false false false SNV 0x05010008000515053f000100 1 false 100 rs2645075 2254910 true MORN1 __UNKNOWN__ hg19 1 2261222 2261222 + Intron SNP C C A 2645065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2261222C>A ENST00000378531.3 - c.e13+5640G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGATAGTGTTCCCCAAGGCCC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9062,0.09385,. false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.878975,0.121025,. false false false SNV 0x05010008000515053f000100 1 false 100 rs2645065 2261222 true MORN1 __UNKNOWN__ hg19 1 2263888 2263888 + Intron SNP C C T 903904 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2263888C>T ENST00000378531.3 - c.e12-4020G>A MORN1_ENST00000606372.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGGGCGACCCCTGGCCCCG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8397,0.1603 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.833665,0.166335 false false false SNV 0x05010008000515053f000101 1 false 86 rs903904 2263888 true MORN1 __UNKNOWN__ hg19 1 2268156 2268156 + Splice_Site SNP C C G 561543765 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2268156C>G ENST00000378531.3 - 11 1344 c.1170G>C c.(1168-1170)aaG>aaC p.K390N MORN1_ENST00000606372.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACCCACCTTGTGGAGGC 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false MORN1:79906 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05000402000100 1 false 142 rs561543765 2268156 false @@ -604,9 +604,9 @@ MORN1 __UNKNOWN__ hg19 1 2283896 2283896 + Intron SNP A A G 2840528 byFrequency MORN1 __UNKNOWN__ hg19 1 2284003 2284003 + Intron SNP T T C 2645082 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2284003T>C ENST00000378531.3 - c.e10-4868A>G RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGCCACCTGAGGGGCTTG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.123,0.877 false false 1 false true false LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.153685,0.846315 false false false SNV 0x05010008000515053f000100 1 false 100 rs2645082 2284003 true MORN1 __UNKNOWN__ hg19 1 2284195 2284195 + Intron SNP T T C 3795272 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2284195T>C ENST00000378531.3 - c.e10-4676A>G RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGTACCCTGGAGATTTTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6893,0.3107 false false 1 false true true LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.711072,0.288928 false false false SNV 0x0501000a000517053f000100 1 false 107 rs3795272 2284195 true MORN1 __UNKNOWN__ hg19 1 2306695 2306695 + Intron SNP C C T 2279703 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2306695C>T ENST00000378529.3 - c.e7+699G>A MORN1_ENST00000378531.3_Intron|RP4-740C4.9_ENST00000606642.1_RNA|MORN1_ENST00000606372.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTCACTCTCTGGCAGGAGC 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6216,0.3784 false false 1 false true true MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.67223,0.32777 false false false SNV 0x05010008000517053f000100 1 false 100 rs2279703 2306695 true -MORN1 __UNKNOWN__ hg19 1 2309082 2309082 + Intron SNP T T G 2843160 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2309082T>G ENST00000378529.3 - c.e7+3086A>C MORN1_ENST00000378531.3_Intron|RP4-740C4.8_ENST00000606280.1_RNA|MORN1_ENST00000606372.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTGGAAGCTATGCCCTCTG 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5102,0.4898 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.574559,0.425441 false false false SNV 0x05010008000515053f000100 1 false 100 rs2843160 2309082 true -RER1 __UNKNOWN__ hg19 1 2327075 2327075 + 5'UTR SNP C C T 3736330 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327075C>T ENST00000488353.1 + 1 RER1_ENST00000605895.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTTTTTCCCGAACAATTCA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7638,0.2362 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.789718,0.210282 false false false SNV 0x050100080005150537000100 1 false 107 rs3736330 2327075 true -RER1 __UNKNOWN__ hg19 1 2327815 2327815 + Intron SNP C C T 2840532 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327815C>T ENST00000605895.1 + c.e2+505C>T RER1_ENST00000488353.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGGGTCACCGGCAGTTCCA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4758,0.5242 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.482588,0.517412 false false false SNV 0x05010008000515053f000101 1 false 100 rs2840532 2327815 true +MORN1 __UNKNOWN__ hg19 1 2309082 2309082 + Intron SNP T T G 2843160 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2309082T>G ENST00000378529.3 - c.e7+3086A>C MORN1_ENST00000378531.3_Intron|RP4-740C4.8_ENST00000606280.1_RNA|MORN1_ENST00000606372.1_Intron|RP4-740C4.9_ENST00000606642.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTGGAAGCTATGCCCTCTG 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5102,0.4898 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.574559,0.425441 false false false SNV 0x05010008000515053f000100 1 false 100 rs2843160 2309082 true +RER1 __UNKNOWN__ hg19 1 2327075 2327075 + 5'UTR SNP C C T 3736330 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327075C>T ENST00000488353.1 + 1 RER1_ENST00000605895.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron|MORN1_ENST00000378529.3_5'Flank|MORN1_ENST00000378531.3_5'Flank|MORN1_ENST00000606372.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTTTTTCCCGAACAATTCA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7638,0.2362 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.789718,0.210282 false false false SNV 0x050100080005150537000100 1 false 107 rs3736330 2327075 true +RER1 __UNKNOWN__ hg19 1 2327815 2327815 + Intron SNP C C T 2840532 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327815C>T ENST00000605895.1 + c.e2+505C>T RER1_ENST00000488353.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron|MORN1_ENST00000378529.3_5'Flank|MORN1_ENST00000378531.3_5'Flank|MORN1_ENST00000606372.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGGGTCACCGGCAGTTCCA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4758,0.5242 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.482588,0.517412 false false false SNV 0x05010008000515053f000101 1 false 100 rs2840532 2327815 true RER1 __UNKNOWN__ hg19 1 2330190 2330190 + Intron SNP T T G 6693447 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2330190T>G ENST00000605895.1 + c.e4-664T>G RER1_ENST00000488353.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTTAATCATTTTAAAAAAT 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6514,0.3486 false false 1 false true true RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.627584,0.372416 false false false SNV 0x05010008000517053f000100 1 false 116 rs6693447 2330190 true RER1 __UNKNOWN__ hg19 1 2330953 2330953 + Splice_Site SNP G G A 769814129 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2330953G>A ENST00000605895.1 + 4 419 c.286G>A c.(286-288)Gat>Aat p.D96N RER1_ENST00000488353.1_Splice_Site_p.D96N|RER1_ENST00000378512.1_Splice_Site_p.D96N|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGACTCAGGTAGGGTAGC 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false RER1:11079 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05000402000100 1 false 144 rs769814129 2330953 false Unknown __UNKNOWN__ hg19 1 2351699 2351699 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2351699T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCAGCACCTACCTCTTGTC 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -636,9 +636,9 @@ PLCH2 __UNKNOWN__ hg19 1 2420787 2420787 + Silent SNP A A T 202216018 byFrequen PANK4 __UNKNOWN__ hg19 1 2440415 2440415 + Silent SNP G G A 141941464 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2440415G>A ENST00000378466.3 - 19 2206 c.2193C>T c.(2191-2193)caC>caT p.H731H PANK4_ENST00000435556.3_Silent_p.H692H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAGTTTGTGTGGACAGCAC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false PANK4:55229 false true false false true false false false false false false false false false false false false false false true false true 0 true 0 true 0.998523,0.00147675 false false false SNV 0x050300000305040426000100 1 false 134 rs141941464 2440415 true PANK4 __UNKNOWN__ hg19 1 2440415 2440415 + Silent SNP G G A 141941464 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2440415G>A ENST00000378466.3 - 19 2206 c.2193C>T c.(2191-2193)caC>caT p.H731H PANK4_ENST00000435556.3_Silent_p.H692H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAGTTTGTGTGGACAGCAC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,0.0003994 false false 0 false false false PANK4:55229 false true false false true false false false false false false false false false false false false false false true false true 0 true 0 true 0.998523,0.00147675 false false false SNV 0x050300000305040426000100 1 false 134 rs141941464 2440415 true PANK4 __UNKNOWN__ hg19 1 2450734 2450735 + Frame_Shift_Del DEL G G - 764053138 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2450734delG ENST00000378466.3 - 7 897 c.883delC c.(883-885)ctgfs p.L295fs PANK4_ENST00000435556.3_Frame_Shift_Del_p.L256fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTGCAGCAGGCTCTTCGCC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PANK4:55229 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs764053138 2450734 false -HES5 __UNKNOWN__ hg19 1 2461316 2461316 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2461316C>T ENST00000378453.3 - 2 270 c.189G>A c.(187-189)gaG>gaA p.E63E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACAGCCATCTCCAGGATGT 0.7231920199501247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +HES5 __UNKNOWN__ hg19 1 2461316 2461316 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2461316C>T ENST00000378453.3 - 2 270 c.189G>A c.(187-189)gaG>gaA p.E63E PANK4_ENST00000378466.3_5'Flank|PANK4_ENST00000435556.3_5'Flank|PANK4_ENST00000491212.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACAGCCATCTCCAGGATGT 0.7231920199501247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TNFRSF14 __UNKNOWN__ hg19 1 2493130 2493130 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2493130G>A ENST00000355716.4 + 6 869 c.570G>A c.(568-570)acG>acA p.T190T TNFRSF14_ENST00000409119.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGGTGACGAAGGCCGGAG 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP3-395M20.9 __UNKNOWN__ hg19 1 2513216 2513216 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2513216C>T ENST00000424215.1 + c.e1+127C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGAAAAGCACAACAGAGAAC 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +FAM213B __UNKNOWN__ hg19 1 2513216 2513216 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2513216C>T ENST00000419916.2 + RP3-395M20.9_ENST00000424215.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGAAAAGCACAACAGAGAAC 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FAM213B __UNKNOWN__ hg19 1 2519989 2519989 + Splice_Site SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2519989G>T ENST00000378424.4 + 5 545 c.529G>T c.(529-531)Gcc>Tcc p.A177S FAM213B_ENST00000419916.2_Splice_Site_p.A159S|FAM213B_ENST00000378425.5_Splice_Site_p.A129S|FAM213B_ENST00000444521.2_Splice_Site_p.A147S|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000484099.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCTGACAGGCCAAGGCTGT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MMEL1 __UNKNOWN__ hg19 1 2526245 2526245 + Nonsense_Mutation SNP T T A 200758088 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2526245T>A ENST00000378412.3 - 17 1834 c.1672A>T c.(1672-1674)Aag>Tag p.K558* MMEL1_ENST00000502556.1_Nonsense_Mutation_p.K401*|MMEL1_ENST00000288709.6_Nonsense_Mutation_p.K549* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCACCTTTTCCCGAAGC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MMEL1:79258 false true false false false false false false false false false false true false false false false false false true false true 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050200000605040402000100 1 false 137 rs200758088 2526245 true MMEL1 __UNKNOWN__ hg19 1 2530219 2530219 + Nonsense_Mutation SNP C C T 768914853 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2530219C>T ENST00000378412.3 - 12 1214 c.1052G>A c.(1051-1053)tGg>tAg p.W351* MMEL1_ENST00000502556.1_Nonsense_Mutation_p.W194*|MMEL1_ENST00000288709.6_Nonsense_Mutation_p.W342* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACAGAGTCCAGTTAAATCC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MMEL1:79258 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 144 rs768914853 2530219 false @@ -646,10 +646,10 @@ MMEL1 __UNKNOWN__ hg19 1 2541269 2541269 + Splice_Site SNP A A G 10797440 byFre MMEL1 __UNKNOWN__ hg19 1 2541269 2541269 + Splice_Site SNP A A G 10797440 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2541269A>G ENST00000378412.3 - 5 456 c.294T>C c.(292-294)gcT>gcC p.A98A MMEL1_ENST00000502556.1_Splice_Site_p.A98A|MMEL1_ENST00000288709.6_Splice_Site_p.A89A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATCCTGGCAGCTGCTCGTC 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.4685,0.5315 false false 1 false true true MMEL1:79258 true true false true true false false false false false false false false false false false false false false true false true 0 true 0 true 0.525414,0.474586 false false false SNV 0x05030000030517053f000100 1 false 120 rs10797440 2541269 true MMEL1 __UNKNOWN__ hg19 1 2542778 2542778 + Splice_Site SNP C C T 201188524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2542778C>T ENST00000378412.3 - 4 396 c.234G>A c.(232-234)ggG>ggA p.G78G MMEL1_ENST00000502556.1_Splice_Site_p.G78G|MMEL1_ENST00000288709.6_Splice_Site_p.G69G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTGGGATCCCTGCGGGCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false MMEL1:79258 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050000000305000402000100 1 false 137 rs201188524 2542778 false MMEL1 __UNKNOWN__ hg19 1 2542778 2542778 + Splice_Site SNP C C T 201188524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2542778C>T ENST00000378412.3 - 4 396 c.234G>A c.(232-234)ggG>ggA p.G78G MMEL1_ENST00000502556.1_Splice_Site_p.G78G|MMEL1_ENST00000288709.6_Splice_Site_p.G69G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTGGGATCCCTGCGGGCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false MMEL1:79258 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050000000305000402000100 1 false 137 rs201188524 2542778 false -MMEL1 __UNKNOWN__ hg19 1 2564465 2564465 + 5'UTR SNP T T C 12752515 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2564465T>C ENST00000288709.6 - 1 RP13-436F16.1_ENST00000427302.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGGCTTCTGGGCCTCCTT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4824,0.5176 false false 1 false true true MMEL1:79258 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.403943,0.596057 false false true SNV 0x050100400a0517053e000100 1 false 121 rs12752515 2564465 true +MMEL1 __UNKNOWN__ hg19 1 2564465 2564465 + 5'UTR SNP T T C 12752515 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2564465T>C ENST00000288709.6 - 1 MMEL1_ENST00000378412.3_5'Flank|MMEL1_ENST00000502556.1_5'Flank|MMEL1_ENST00000511099.1_5'Flank|RP13-436F16.1_ENST00000427302.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGGCTTCTGGGCCTCCTT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4824,0.5176 false false 1 false true true MMEL1:79258 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.403943,0.596057 false false true SNV 0x050100400a0517053e000100 1 false 121 rs12752515 2564465 true ACTRT2 __UNKNOWN__ hg19 1 2938265 2938265 + Silent SNP C C T 4576609 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2938265C>T ENST00000378404.2 + 1 220 c.15C>T c.(13-15)caC>caT p.H5H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAATCCGCACGCTTTAGACT 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7983,.,0.2017 false false 1 false true true ACTRT2:140625 true true false true true false false false false false false false false false false false false false false true false false 0 true 0 true 0.836974,3.4343e-005,0.162992 false false false SNV 0x05010000030517053e000100 1 false 111 rs4576609 2938265 true ACTRT2 __UNKNOWN__ hg19 1 2939409 2939409 + 3'UTR SNP G G T 12564513 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2939409G>T ENST00000378404.2 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTACCGTGGGGGGTGAAC 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9215,0.0003994,.,0.07808 false false 1 false true false ACTRT2:140625 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.964764,.,3.4343e-005,0.0352016 false true false SNV 0x050100800005150537000100 1 false 120 rs12564513 2939409 true -LINC00982 __UNKNOWN__ hg19 1 2983674 2983674 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2983674T>G ENST00000445317.1 - c.e2-227A>C LINC00982_ENST00000321336.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGAGCAGGTTCAGAACCGG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PRDM16 __UNKNOWN__ hg19 1 2983674 2983674 + 5'Flank SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2983674T>G ENST00000270722.5 + PRDM16_ENST00000378391.2_5'Flank|PRDM16_ENST00000378398.3_5'Flank|PRDM16_ENST00000441472.2_5'Flank|PRDM16_ENST00000442529.2_5'Flank|PRDM16_ENST00000511072.1_5'Flank|PRDM16_ENST00000514189.1_5'Flank|LINC00982_ENST00000445317.1_RNA|LINC00982_ENST00000321336.1_RNA|LINC00982_ENST00000321399.3_5'Flank|LINC00982_ENST00000415573.1_5'Flank|LINC00982_ENST00000606861.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGAGCAGGTTCAGAACCGG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRDM16 __UNKNOWN__ hg19 1 3301715 3301715 + Splice_Site SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3301715G>C ENST00000270722.5 + c.e4-1G>C c.e4-1 PRDM16_ENST00000511072.1_Missense_Mutation_p.Q147H|PRDM16_ENST00000514189.1_Missense_Mutation_p.Q147H|PRDM16_ENST00000378391.2_Splice_Site|PRDM16_ENST00000441472.2_Splice_Site|PRDM16_ENST00000442529.2_Splice_Site|PRDM16_ENST00000378398.3_Splice_Site|PRDM16_ENST00000512462.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCCCAGCAGATCTCCGAAG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRDM16 __UNKNOWN__ hg19 1 3327949 3327949 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3327949T>C ENST00000270722.5 + 9 1237 c.1188T>C c.(1186-1188)tgT>tgC p.C396C PRDM16_ENST00000378391.2_Splice_Site_p.C396C|PRDM16_ENST00000511072.1_Splice_Site_p.C397C|PRDM16_ENST00000514189.1_Splice_Site_p.C397C|PRDM16_ENST00000441472.2_Splice_Site_p.C396C|PRDM16_ENST00000442529.2_Splice_Site_p.C396C|PRDM16_ENST00000378398.3_Splice_Site_p.C397C|PRDM16_ENST00000512462.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTTTAGGTGAGGTCTGCC 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRDM16 __UNKNOWN__ hg19 1 3327949 3327949 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3327949T>C ENST00000270722.5 + 9 1237 c.1188T>C c.(1186-1188)tgT>tgC p.C396C PRDM16_ENST00000378391.2_Splice_Site_p.C396C|PRDM16_ENST00000511072.1_Splice_Site_p.C397C|PRDM16_ENST00000514189.1_Splice_Site_p.C397C|PRDM16_ENST00000441472.2_Splice_Site_p.C396C|PRDM16_ENST00000442529.2_Splice_Site_p.C396C|PRDM16_ENST00000378398.3_Splice_Site_p.C397C|PRDM16_ENST00000512462.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTTTAGGTGAGGTCTGCC 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -668,19 +668,19 @@ MEGF6 __UNKNOWN__ hg19 1 3417747 3417747 + Nonsense_Mutation SNP G G A __UNKN MEGF6 __UNKNOWN__ hg19 1 3431235 3431235 + Splice_Site SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3431235A>C ENST00000356575.4 - 7 959 c.732T>G c.(730-732)cgT>cgG p.R244R MEGF6_ENST00000294599.4_Splice_Site_p.R139R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGCTTCTACCTGCAGCCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MEGF6 __UNKNOWN__ hg19 1 3431235 3431235 + Splice_Site SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3431235A>C ENST00000356575.4 - 7 959 c.732T>G c.(730-732)cgT>cgG p.R244R MEGF6_ENST00000294599.4_Splice_Site_p.R139R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGCTTCTACCTGCAGCCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MEGF6 __UNKNOWN__ hg19 1 3440796 3440796 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3440796G>A ENST00000356575.4 - 5 723 c.496C>T c.(496-498)Cga>Tga p.R166* MEGF6_ENST00000294599.4_Nonsense_Mutation_p.R61* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTGGGTTCGGCATTCGTCC 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-46F15.2 __UNKNOWN__ hg19 1 3540024 3540024 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3540024T>G ENST00000435049.1 - c.e3-96A>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGTCTTGCTGGGCGTGCCA 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TPRG1L __UNKNOWN__ hg19 1 3542386 3542387 + Frame_Shift_Del DEL A A - 749859577 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542386delA ENST00000378344.2 + 3 473 c.403delA c.(403-405)atafs p.I135fs TPRG1L_ENST00000344579.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGCGGATAGCGCTCAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs749859577 3542386 false -TPRG1L __UNKNOWN__ hg19 1 3542422 3542422 + Nonsense_Mutation SNP G G T 148462952 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542422G>T ENST00000378344.2 + 3 510 c.439G>T c.(439-441)Gaa>Taa p.E147* TPRG1L_ENST00000344579.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTACGGAGAATTCCAGTT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false false true false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000080605040002000100 1 false 134 rs148462952 3542422 true -TPRG1L __UNKNOWN__ hg19 1 3544065 3544065 + Splice_Site SNP C C T 370133742 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544065C>T ENST00000378344.2 + 4 543 c.472C>T c.(472-474)Cga>Tga p.R158* TPRG1L_ENST00000344579.5_Splice_Site_p.R99* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCAGGCGAGAAGGTTT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NONSENSE true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 138 rs370133742 3544065 false -TPRG1L __UNKNOWN__ hg19 1 3544065 3544065 + Splice_Site SNP C C T 370133742 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544065C>T ENST00000378344.2 + 4 543 c.472C>T c.(472-474)Cga>Tga p.R158* TPRG1L_ENST00000344579.5_Splice_Site_p.R99* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCAGGCGAGAAGGTTT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NONSENSE true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 138 rs370133742 3544065 false -TPRG1L __UNKNOWN__ hg19 1 3544995 3544995 + Nonsense_Mutation SNP T T G 750555620 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544995T>G ENST00000378344.2 + 5 718 c.647T>G c.(646-648)tTa>tGa p.L216* TPRG1L_ENST00000344579.5_Nonsense_Mutation_p.L157* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCTCTGTTAATCCAAGCT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000605040402000100 1 false 144 rs750555620 3544995 true -TPRG1L __UNKNOWN__ hg19 1 3545612 3545612 + 3'UTR SNP A A G 1128474 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3545612A>G ENST00000378344.2 + 5 TPRG1L_ENST00000344579.5_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTGCAAGTATGTTTACACC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7949,0.2051 false false 1 false true false TPRG1L:127262 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.832853,0.167147 false true false SNV 0x050100800005150537000100 1 false 86 rs1128474 3545612 true +TPRG1L __UNKNOWN__ hg19 1 3540024 3540024 + 5'Flank SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3540024T>G ENST00000344579.5 + TPRG1L_ENST00000378344.2_5'Flank|RP11-46F15.2_ENST00000435049.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGTCTTGCTGGGCGTGCCA 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TPRG1L __UNKNOWN__ hg19 1 3542386 3542387 + Frame_Shift_Del DEL A A - 749859577 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542386delA ENST00000378344.2 + 3 473 c.403delA c.(403-405)atafs p.I135fs TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGCGGATAGCGCTCAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs749859577 3542386 false +TPRG1L __UNKNOWN__ hg19 1 3542422 3542422 + Nonsense_Mutation SNP G G T 148462952 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542422G>T ENST00000378344.2 + 3 510 c.439G>T c.(439-441)Gaa>Taa p.E147* TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTACGGAGAATTCCAGTT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false false true false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000080605040002000100 1 false 134 rs148462952 3542422 true +TPRG1L __UNKNOWN__ hg19 1 3544065 3544065 + Splice_Site SNP C C T 370133742 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544065C>T ENST00000378344.2 + 4 543 c.472C>T c.(472-474)Cga>Tga p.R158* TPRG1L_ENST00000344579.5_Splice_Site_p.R99*|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCAGGCGAGAAGGTTT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NONSENSE true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 138 rs370133742 3544065 false +TPRG1L __UNKNOWN__ hg19 1 3544065 3544065 + Splice_Site SNP C C T 370133742 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544065C>T ENST00000378344.2 + 4 543 c.472C>T c.(472-474)Cga>Tga p.R158* TPRG1L_ENST00000344579.5_Splice_Site_p.R99*|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCAGGCGAGAAGGTTT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NONSENSE true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 138 rs370133742 3544065 false +TPRG1L __UNKNOWN__ hg19 1 3544995 3544995 + Nonsense_Mutation SNP T T G 750555620 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544995T>G ENST00000378344.2 + 5 718 c.647T>G c.(646-648)tTa>tGa p.L216* TPRG1L_ENST00000344579.5_Nonsense_Mutation_p.L157*|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCTCTGTTAATCCAAGCT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000605040402000100 1 false 144 rs750555620 3544995 true +TPRG1L __UNKNOWN__ hg19 1 3545612 3545612 + 3'UTR SNP A A G 1128474 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3545612A>G ENST00000378344.2 + 5 TPRG1L_ENST00000344579.5_3'UTR|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTGCAAGTATGTTTACACC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7949,0.2051 false false 1 false true false TPRG1L:127262 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.832853,0.167147 false true false SNV 0x050100800005150537000100 1 false 86 rs1128474 3545612 true TP73 __UNKNOWN__ hg19 1 3648066 3648066 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3648066T>C ENST00000378295.4 + 13 1679 c.1524T>C c.(1522-1524)taT>taC p.Y508Y TP73_ENST00000378280.1_Missense_Mutation_p.F410L|TP73_ENST00000378288.4_Silent_p.Y459Y|TP73_ENST00000378290.4_Silent_p.Y437Y|TP73_ENST00000604479.1_Silent_p.Y412Y|TP73_ENST00000604074.1_Intron|TP73_ENST00000354437.4_Intron|TP73_ENST00000378285.1_Intron|TP73_ENST00000603362.1_Intron|TP73_ENST00000346387.4_Silent_p.Y412Y|TP73_ENST00000357733.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATCGAGTATTTCACCTCCC 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TP73 __UNKNOWN__ hg19 1 3649562 3649562 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3649562G>A ENST00000378295.4 + 14 1985 c.1830G>A c.(1828-1830)gcG>gcA p.A610A TP73_ENST00000378288.4_Silent_p.A561A|TP73_ENST00000378290.4_Silent_p.A539A|TP73_ENST00000603362.1_Silent_p.A529A|TP73_ENST00000604479.1_Silent_p.A514A|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000357733.3_Silent_p.A529A|TP73_ENST00000346387.4_Silent_p.A514A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGAGTGGGCGGACTTCGGCT 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TP73 __UNKNOWN__ hg19 1 3651031 3651031 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3651031C>T ENST00000378295.4 + 14 TP73_ENST00000378288.4_3'UTR|TP73_ENST00000604074.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTCACCCACGCAAGCCGAG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TP73 __UNKNOWN__ hg19 1 3651409 3651409 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3651409G>A ENST00000378295.4 + 14 TP73_ENST00000378288.4_3'UTR|TP73_ENST00000604074.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGCTGTCGGCTCTCAGGGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TP73-AS1 __UNKNOWN__ hg19 1 3657759 3657759 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3657759G>A ENST00000452079.1 - c.e4+808C>T TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000608600.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAGGACCGGAGGCCTTTG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TP73-AS1 __UNKNOWN__ hg19 1 3659657 3659657 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3659657G>A ENST00000452079.1 - c.e2+32C>T TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000608600.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGGCCGCCGGGAACAGGCA 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TP73-AS1 __UNKNOWN__ hg19 1 3657759 3657759 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3657759G>A ENST00000452079.1 - c.e4+808C>T TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000419973.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAGGACCGGAGGCCTTTG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TP73-AS1 __UNKNOWN__ hg19 1 3659657 3659657 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3659657G>A ENST00000452079.1 - c.e2+32C>T TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000587071.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGGCCGCCGGGAACAGGCA 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CCDC27 __UNKNOWN__ hg19 1 3669362 3669362 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3669362C>T ENST00000294600.2 + 1 401 c.317C>T c.(316-318)aCg>aTg p.T106M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGGAAGACGGTATGGGGT 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CCDC27 __UNKNOWN__ hg19 1 3672032 3672032 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3672032G>T ENST00000294600.2 + 3 538 c.454G>T c.(454-456)Gag>Tag p.E152* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCACCCACTGAGGCCGATTT 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CCDC27 __UNKNOWN__ hg19 1 3673329 3673329 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3673329G>T ENST00000294600.2 + 4 670 c.586G>T c.(586-588)Gag>Tag p.E196* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCATCTGCGAGTTCGATTA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -694,11 +694,11 @@ CEP104 __UNKNOWN__ hg19 1 3739988 3739988 + Splice_Site SNP G G A __UNKNOWN__ CEP104 __UNKNOWN__ hg19 1 3743271 3743271 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3743271C>A ENST00000378230.3 - c.e16-1G>T c.e16+1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTTTACATACCCTGATTCTT 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CEP104 __UNKNOWN__ hg19 1 3751489 3751489 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3751489G>A ENST00000378230.3 - 11 1810 c.1485C>T c.(1483-1485)tcC>tcT p.S495S CEP104_ENST00000460038.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACTCACGGAGGTCACAA 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CEP104 __UNKNOWN__ hg19 1 3751489 3751489 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3751489G>A ENST00000378230.3 - 11 1810 c.1485C>T c.(1483-1485)tcC>tcT p.S495S CEP104_ENST00000460038.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACTCACGGAGGTCACAA 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CEP104 __UNKNOWN__ hg19 1 3753856 3753856 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753856A>G ENST00000378230.3 - 9 1444 c.1119T>C c.(1117-1119)aaT>aaC p.N373N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTACCTACATTGATCTTTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CEP104 __UNKNOWN__ hg19 1 3753856 3753856 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753856A>G ENST00000378230.3 - 9 1444 c.1119T>C c.(1117-1119)aaT>aaC p.N373N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTACCTACATTGATCTTTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CEP104 __UNKNOWN__ hg19 1 3753972 3753972 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753972G>A ENST00000378230.3 - 9 1328 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGCAAACTGGTTTTCTGTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CEP104 __UNKNOWN__ hg19 1 3755660 3755660 + Nonsense_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3755660A>C ENST00000378230.3 - 8 1084 c.759T>G c.(757-759)taT>taG p.Y253* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCTACCTCATACCTCCCAA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CEP104 __UNKNOWN__ hg19 1 3756342 3756342 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3756342T>C ENST00000378230.3 - c.e7+2A>G c.e7-2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGATTTCCTAAAGGGAAGA 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CEP104 __UNKNOWN__ hg19 1 3753856 3753856 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753856A>G ENST00000378230.3 - 9 1444 c.1119T>C c.(1117-1119)aaT>aaC p.N373N CEP104_ENST00000460038.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTACCTACATTGATCTTTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CEP104 __UNKNOWN__ hg19 1 3753856 3753856 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753856A>G ENST00000378230.3 - 9 1444 c.1119T>C c.(1117-1119)aaT>aaC p.N373N CEP104_ENST00000460038.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTACCTACATTGATCTTTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CEP104 __UNKNOWN__ hg19 1 3753972 3753972 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753972G>A ENST00000378230.3 - 9 1328 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* CEP104_ENST00000460038.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGCAAACTGGTTTTCTGTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CEP104 __UNKNOWN__ hg19 1 3755660 3755660 + Nonsense_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3755660A>C ENST00000378230.3 - 8 1084 c.759T>G c.(757-759)taT>taG p.Y253* CEP104_ENST00000460038.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCTACCTCATACCTCCCAA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CEP104 __UNKNOWN__ hg19 1 3756342 3756342 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3756342T>C ENST00000378230.3 - c.e7+2A>G c.e7-2 CEP104_ENST00000460038.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGATTTCCTAAAGGGAAGA 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CEP104 __UNKNOWN__ hg19 1 3761541 3761541 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3761541G>A ENST00000378230.3 - 6 821 c.496C>T c.(496-498)Cga>Tga p.R166* CEP104_ENST00000378223.3_Nonsense_Mutation_p.R166* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTTCTCTCGAGAGGCCTTT 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CEP104 __UNKNOWN__ hg19 1 3761547 3761547 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3761547C>A ENST00000378230.3 - 6 815 c.490G>T c.(490-492)Gcc>Tcc p.A164S CEP104_ENST00000378223.3_Splice_Site_p.A164S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCGAGAGGCCTTTGGGGGC 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CEP104 __UNKNOWN__ hg19 1 3765282 3765282 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3765282C>T ENST00000378230.3 - 3 502 c.177G>A c.(175-177)ctG>ctA p.L59L CEP104_ENST00000378223.3_Silent_p.L59L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGTAACTGCAGTTTCCTTA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -709,7 +709,7 @@ DFFB __UNKNOWN__ hg19 1 3800159 3800160 + Frame_Shift_Del DEL G G - 777060714 C1orf174 __UNKNOWN__ hg19 1 3806595 3806595 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3806595G>A ENST00000361605.3 - 4 760 c.661C>T c.(661-663)Cga>Tga p.R221* C1orf174_ENST00000486765.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAACTCTCGTCTGCTCATT 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false C1orf174 __UNKNOWN__ hg19 1 3806595 3806595 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3806595G>A ENST00000361605.3 - 4 760 c.661C>T c.(661-663)Cga>Tga p.R221* C1orf174_ENST00000486765.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAACTCTCGTCTGCTCATT 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false C1orf174 __UNKNOWN__ hg19 1 3807537 3807537 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3807537G>A ENST00000361605.3 - 3 313 c.214C>T c.(214-216)Cag>Tag p.Q72* C1orf174_ENST00000486765.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGCTTCTGTAATTCTGAC 0.47381546134663344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP13-15E13.1 __UNKNOWN__ hg19 1 3821782 3821782 + RNA SNP G G A 11589102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3821782G>A ENST00000442673.1 + c.e1+4587G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAACTAATGTTTTCTTAAT 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8093,0.1907 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748643,0.251357 false false false SNV 0x05010008000517053f000101 1 false 120 rs11589102 3821782 true +C1orf174 __UNKNOWN__ hg19 1 3821782 3821782 + 5'Flank SNP G G A 11589102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3821782G>A ENST00000361605.3 - C1orf174_ENST00000486765.1_5'Flank|RP13-15E13.1_ENST00000442673.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAACTAATGTTTTCTTAAT 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8093,0.1907 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748643,0.251357 false false false SNV 0x05010008000517053f000101 1 false 120 rs11589102 3821782 true RP13-15E13.1 __UNKNOWN__ hg19 1 3822703 3822703 + RNA SNP C C T 10909830 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3822703C>T ENST00000442673.1 + c.e1+5508C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCACCGACGCAGGCCCGG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7055,0.2945 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.663061,0.336939 false false false SNV 0x05010008000517053f000100 1 false 120 rs10909830 3822703 true RP13-15E13.1 __UNKNOWN__ hg19 1 3823395 3823395 + RNA SNP C C T 28973022 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3823395C>T ENST00000442673.1 + c.e1+6200C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCAGATCCACGTCTGCCTCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8087,0.1913 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748918,0.251082 false false false SNV 0x05010008000517053f000100 1 false 125 rs28973022 3823395 true RP13-15E13.1 __UNKNOWN__ hg19 1 3825525 3825525 + RNA SNP C C T 35383955 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3825525C>T ENST00000442673.1 + c.e2-5434C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAAGCGGAGCTCTTG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7456,0.2544 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false false false false SNV 0x05010008000517053e000100 1 false 126 rs35383955 3825525 true @@ -766,11 +766,11 @@ CHD5 __UNKNOWN__ hg19 1 6171835 6171835 + Splice_Site SNP G G A __UNKNOWN__ _ CHD5 __UNKNOWN__ hg19 1 6196869 6196869 + Silent SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6196869A>G ENST00000262450.3 - 16 2593 c.2493T>C c.(2491-2493)atT>atC p.I831I CHD5_ENST00000378021.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCTGGTCAATGGTGATGA 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CHD5 __UNKNOWN__ hg19 1 6203883 6203883 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6203883G>A ENST00000262450.3 - 13 2143 c.2043C>T c.(2041-2043)gaC>gaT p.D681D CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCACTCACGTCCACAATGG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CHD5 __UNKNOWN__ hg19 1 6203883 6203883 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6203883G>A ENST00000262450.3 - 13 2143 c.2043C>T c.(2041-2043)gaC>gaT p.D681D CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCACTCACGTCCACAATGG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RNF207 __UNKNOWN__ hg19 1 6271096 6271096 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6271096C>T ENST00000377939.4 + 12 1154 c.1027C>T c.(1027-1029)Cga>Tga p.R343* RNF207_ENST00000377948.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTGACCACCGAGCTGAATT 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RNF207 __UNKNOWN__ hg19 1 6271178 6271178 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6271178C>T ENST00000377939.4 + 12 1236 c.1109C>T c.(1108-1110)aCg>aTg p.T370M RNF207_ENST00000377948.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGCTAACACGTGAGCAGCA 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RNF207 __UNKNOWN__ hg19 1 6272342 6272342 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6272342C>T ENST00000377939.4 + 14 1475 c.1348C>T c.(1348-1350)Cga>Tga p.R450* RNF207_ENST00000377948.2_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGCTGCACCGAGACCTCAC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RNF207 __UNKNOWN__ hg19 1 6272793 6272793 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6272793G>A ENST00000377939.4 + 15 1661 c.1534G>A c.(1534-1536)Gcc>Acc p.A512T RNF207_ENST00000377948.2_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTTATGAAGGTTCCAGACA 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -LINC00337 __UNKNOWN__ hg19 1 6296998 6296998 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6296998C>T ENST00000441724.1 + c.e2-28C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGCCACTGCGCCCGTCTTA 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RNF207 __UNKNOWN__ hg19 1 6271096 6271096 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6271096C>T ENST00000377939.4 + 12 1154 c.1027C>T c.(1027-1029)Cga>Tga p.R343* RNF207_ENST00000377948.2_Intron|RNF207_ENST00000483336.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTGACCACCGAGCTGAATT 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RNF207 __UNKNOWN__ hg19 1 6271178 6271178 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6271178C>T ENST00000377939.4 + 12 1236 c.1109C>T c.(1108-1110)aCg>aTg p.T370M RNF207_ENST00000377948.2_Intron|RNF207_ENST00000483336.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGCTAACACGTGAGCAGCA 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RNF207 __UNKNOWN__ hg19 1 6272342 6272342 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6272342C>T ENST00000377939.4 + 14 1475 c.1348C>T c.(1348-1350)Cga>Tga p.R450* RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGCTGCACCGAGACCTCAC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RNF207 __UNKNOWN__ hg19 1 6272793 6272793 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6272793G>A ENST00000377939.4 + 15 1661 c.1534G>A c.(1534-1536)Gcc>Acc p.A512T RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTTATGAAGGTTCCAGACA 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +LINC00337 __UNKNOWN__ hg19 1 6296998 6296998 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6296998C>T ENST00000441724.1 + c.e2-28C>T LINC00337_ENST00000429480.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGCCACTGCGCCCGTCTTA 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GPR153 __UNKNOWN__ hg19 1 6308929 6308929 + 3'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6308929C>A ENST00000377893.2 - 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCTCCCCCCCCCCGAAGGG 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ACOT7 __UNKNOWN__ hg19 1 6378607 6378607 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6378607G>A ENST00000377855.2 - 6 834 c.687C>T c.(685-687)agC>agT p.S229S ACOT7_ENST00000377845.3_Silent_p.S199S|ACOT7_ENST00000608083.1_Silent_p.S187S|ACOT7_ENST00000361521.4_Silent_p.S219S|ACOT7_ENST00000377842.3_Silent_p.S178S|ACOT7_ENST00000541130.1_Silent_p.S199S|ACOT7_ENST00000545482.1_Silent_p.S114S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGATCAAGCTGGACTGGC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ACOT7 __UNKNOWN__ hg19 1 6378607 6378607 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6378607G>A ENST00000377855.2 - 6 834 c.687C>T c.(685-687)agC>agT p.S229S ACOT7_ENST00000377845.3_Silent_p.S199S|ACOT7_ENST00000608083.1_Silent_p.S187S|ACOT7_ENST00000361521.4_Silent_p.S219S|ACOT7_ENST00000377842.3_Silent_p.S178S|ACOT7_ENST00000541130.1_Silent_p.S199S|ACOT7_ENST00000545482.1_Silent_p.S114S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGATCAAGCTGGACTGGC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -778,20 +778,20 @@ ACOT7 __UNKNOWN__ hg19 1 6409810 6409810 + Splice_Site SNP C C A __UNKNOWN__ PLEKHG5 __UNKNOWN__ hg19 1 6529605 6529605 + Splice_Site SNP A A G 150807400 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6529605A>G ENST00000377748.1 - 18 2661 c.2163T>C c.(2161-2163)ccT>ccC p.P721P PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCTTACCAGGGTCCCGTA 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9996,0.0003994 false false 0 false false false PLEKHG5:57449 false true false false true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997871,0.00212927 false false false SNV 0x050200000305040426000100 1 false 134 rs150807400 6529605 true PLEKHG5 __UNKNOWN__ hg19 1 6529605 6529605 + Splice_Site SNP A A G 150807400 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6529605A>G ENST00000377748.1 - 18 2661 c.2163T>C c.(2161-2163)ccT>ccC p.P721P PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCTTACCAGGGTCCCGTA 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9996,0.0003994 false false 0 false false false PLEKHG5:57449 false true false false true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997871,0.00212927 false false false SNV 0x050200000305040426000100 1 false 134 rs150807400 6529605 true PLEKHG5 __UNKNOWN__ hg19 1 6534226 6534226 + Splice_Site SNP T T C 144750655 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6534226T>C ENST00000377748.1 - c.e8+2A>G c.e8-2 PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGGGGCTGCATGTGGGG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON true true 0.9998,0.0001997 false false 0 false false false PLEKHG5:57449 false true false true true false false false false false false false false false false false false false false false false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000200005040436000100 1 false 134 rs144750655 6534226 true -PLEKHG5 __UNKNOWN__ hg19 1 6550505 6550505 + 5'UTR SNP C C T 11806429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6550505C>T ENST00000340850.5 - 1 PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377748.1_Intron|PLEKHG5_ENST00000377732.1_Intron|PLEKHG5_ENST00000400915.3_Intron|PLEKHG5_ENST00000377728.3_Intron|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Intron|PLEKHG5_ENST00000377737.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGACTCACCTAGGAACAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8051,0.1949 false false 1 false true true PLEKHG5:57449 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.824748,0.175252 false false true SNV 0x05010048000517053f000100 1 false 120 rs11806429 6550505 true +PLEKHG5 __UNKNOWN__ hg19 1 6550505 6550505 + 5'UTR SNP C C T 11806429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6550505C>T ENST00000340850.5 - 1 PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377748.1_Intron|PLEKHG5_ENST00000377732.1_Intron|PLEKHG5_ENST00000400915.3_Intron|PLEKHG5_ENST00000377728.3_Intron|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Intron|PLEKHG5_ENST00000377737.2_Intron|PLEKHG5_ENST00000400913.1_5'Flank|PLEKHG5_ENST00000535355.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGACTCACCTAGGAACAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8051,0.1949 false false 1 false true true PLEKHG5:57449 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.824748,0.175252 false false true SNV 0x05010048000517053f000100 1 false 120 rs11806429 6550505 true PLEKHG5 __UNKNOWN__ hg19 1 6579843 6579843 + 5'UTR SNP C C T 1010584 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6579843C>T ENST00000377748.1 - 1 PLEKHG5_ENST00000377740.3_5'UTR|PLEKHG5_ENST00000377737.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTCGCAGCCGCCGCTCACA 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2646,0.7354 false false 1 false true false PLEKHG5:57449 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.306271,0.693729 false false true SNV 0x05010040000515053f000100 1 false 86 rs1010584 6579843 true NOL9 __UNKNOWN__ hg19 1 6592659 6592659 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6592659G>A ENST00000377705.5 - 8 1432 c.1399C>T c.(1399-1401)Cga>Tga p.R467* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAAACGTCGATTTCTCATC 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TAS1R1 __UNKNOWN__ hg19 1 6615467 6615467 + Nonsense_Mutation SNP C C T 149094445 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6615467C>T ENST00000333172.6 + 1 227 c.34C>T c.(34-36)Cag>Tag p.Q12* TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Q12*|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.Q12* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCGGCCTGCAGCTTCTCAT 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9978,0.002196 false false 1 false false false TAS1R1:80835|NOL9:79707 false true false true true false false false false false false false true false false false false false true true false false 0 false 0 true 0.99739,0.00261007 false false false SNV 0x050000020705040436000100 1 false 134 rs149094445 6615467 true -TAS1R1 __UNKNOWN__ hg19 1 6635346 6635347 + Frame_Shift_Del DEL C C - 867182312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635346delC ENST00000333172.6 + 3 1346 c.1154delC c.(1153-1155)tctfs p.S385fs TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Frame_Shift_Del_p.S385fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATGAGTTCTGCCTACAAC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TAS1R1:80835 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs867182312 6635346 false -TAS1R1 __UNKNOWN__ hg19 1 6635448 6635448 + Nonsense_Mutation SNP G G A 140193828 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635448G>A ENST00000333172.6 + 3 1449 c.1256G>A c.(1255-1257)tGg>tAg p.W419* TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.W419* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTACCCCTGGCAGGTAAGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false TAS1R1:80835 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999141,0.000858575 false false false SNV 0x050200080605040436000100 1 false 134 rs140193828 6635448 true -TAS1R1 __UNKNOWN__ hg19 1 6639436 6639436 + Nonsense_Mutation SNP G G A 115030111 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6639436G>A ENST00000333172.6 + 6 2511 c.2318G>A c.(2317-2319)tGg>tAg p.W773* TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.W519*|TAS1R1_ENST00000328191.4_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCGTGTCCTGGATCGCCTTC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398 false false 1 false false false TAS1R1:80835|ZBTB48:3104 false true false true true false false false false false false false true false false false false false true true false false 0 false 0 false 0.999004,0.000995948 false false false SNV 0x050000020605040436000100 1 false 132 rs115030111 6639436 true +TAS1R1 __UNKNOWN__ hg19 1 6615467 6615467 + Nonsense_Mutation SNP C C T 149094445 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6615467C>T ENST00000333172.6 + 1 227 c.34C>T c.(34-36)Cag>Tag p.Q12* TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Q12*|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.Q12*|NOL9_ENST00000377705.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCGGCCTGCAGCTTCTCAT 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9978,0.002196 false false 1 false false false TAS1R1:80835|NOL9:79707 false true false true true false false false false false false false true false false false false false true true false false 0 false 0 true 0.99739,0.00261007 false false false SNV 0x050000020705040436000100 1 false 134 rs149094445 6615467 true +TAS1R1 __UNKNOWN__ hg19 1 6635346 6635347 + Frame_Shift_Del DEL C C - 867182312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635346delC ENST00000333172.6 + 3 1346 c.1154delC c.(1153-1155)tctfs p.S385fs TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Frame_Shift_Del_p.S385fs|ZBTB48_ENST00000377674.4_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATGAGTTCTGCCTACAAC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TAS1R1:80835 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs867182312 6635346 false +TAS1R1 __UNKNOWN__ hg19 1 6635448 6635448 + Nonsense_Mutation SNP G G A 140193828 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635448G>A ENST00000333172.6 + 3 1449 c.1256G>A c.(1255-1257)tGg>tAg p.W419* TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.W419*|ZBTB48_ENST00000377674.4_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTACCCCTGGCAGGTAAGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false TAS1R1:80835 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999141,0.000858575 false false false SNV 0x050200080605040436000100 1 false 134 rs140193828 6635448 true +TAS1R1 __UNKNOWN__ hg19 1 6639436 6639436 + Nonsense_Mutation SNP G G A 115030111 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6639436G>A ENST00000333172.6 + 6 2511 c.2318G>A c.(2317-2319)tGg>tAg p.W773* TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.W519*|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCGTGTCCTGGATCGCCTTC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398 false false 1 false false false TAS1R1:80835|ZBTB48:3104 false true false true true false false false false false false false true false false false false false true true false false 0 false 0 false 0.999004,0.000995948 false false false SNV 0x050000020605040436000100 1 false 132 rs115030111 6639436 true ZBTB48 __UNKNOWN__ hg19 1 6647283 6647283 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6647283C>T ENST00000377674.4 + 6 1314 c.1156C>T c.(1156-1158)Cag>Tag p.Q386* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTCCCAGCAGTTCATGCA 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false THAP3 __UNKNOWN__ hg19 1 6690413 6690413 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6690413G>A ENST00000054650.4 + 4 491 c.333G>A c.(331-333)aaG>aaA p.K111K THAP3_ENST00000377627.3_Splice_Site_p.K111K|THAP3_ENST00000307896.6_Splice_Site_p.K110K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGAAAAGGTGAGTGCAC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false THAP3 __UNKNOWN__ hg19 1 6690413 6690413 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6690413G>A ENST00000054650.4 + 4 491 c.333G>A c.(331-333)aaG>aaA p.K111K THAP3_ENST00000377627.3_Splice_Site_p.K111K|THAP3_ENST00000307896.6_Splice_Site_p.K110K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGAAAAGGTGAGTGCAC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false THAP3 __UNKNOWN__ hg19 1 6694207 6694207 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6694207A>G ENST00000377627.3 + 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAACACACAATACACGGAAG 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DNAJC11 __UNKNOWN__ hg19 1 6695123 6695123 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6695123C>T ENST00000377577.5 - 16 THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGAATGACTTGAGCAGCT 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-242F24.1 __UNKNOWN__ hg19 1 6785946 6785946 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6785946G>T ENST00000432429.1 + c.e2-51G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGTCTGTTGCACCCCAATG 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CAMTA1 __UNKNOWN__ hg19 1 7826559 7826559 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7826559C>T ENST00000303635.7 + 23 CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.Q231*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q1653* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGACATACAGCAGCATCC 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CAMTA1 __UNKNOWN__ hg19 1 7826559 7826559 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7826559C>T ENST00000303635.7 + 23 CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.Q231*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q1653*|VAMP3_ENST00000054666.6_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGACATACAGCAGCATCC 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VAMP3 __UNKNOWN__ hg19 1 7838228 7838228 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7838228C>T ENST00000470357.1 + 4 772 c.198C>T c.(196-198)atC>atT p.I66I VAMP3_ENST00000054666.6_Splice_Site_p.I94I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCATCATCATCGGTGAGTTAC 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VAMP3 __UNKNOWN__ hg19 1 7838228 7838228 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7838228C>T ENST00000470357.1 + 4 772 c.198C>T c.(196-198)atC>atT p.I66I VAMP3_ENST00000054666.6_Splice_Site_p.I94I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCATCATCATCGGTGAGTTAC 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VAMP3 __UNKNOWN__ hg19 1 7838230 7838230 + Splice_Site SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7838230G>T ENST00000470357.1 + c.e4+1G>T c.e4+1 VAMP3_ENST00000054666.6_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCATCATCGGTGAGTTACCC 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -803,12 +803,12 @@ PER3 __UNKNOWN__ hg19 1 7879481 7879481 + Splice_Site SNP G G A 771451809 __UN PER3 __UNKNOWN__ hg19 1 7897139 7897140 + Frame_Shift_Del DEL A A - 773961726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7897139delA ENST00000377532.3 + 20 3702 c.3479delA c.(3478-3480)caafs p.K1161fs PER3_ENST00000361923.2_Frame_Shift_Del_p.K1152fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCATGGGCAAAAGGAGGAG 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PER3:8863 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs773961726 7897139 false PER3 __UNKNOWN__ hg19 1 7897180 7897180 + Nonsense_Mutation SNP C C T 748839772 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7897180C>T ENST00000377532.3 + 20 3744 c.3520C>T c.(3520-3522)Cag>Tag p.Q1174* PER3_ENST00000361923.2_Nonsense_Mutation_p.Q1165* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTCAAAGCCAGACTGTCAC 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PER3:8863 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 144 rs748839772 7897180 false UTS2 __UNKNOWN__ hg19 1 7907859 7907859 + Silent SNP C C T 757148544 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7907859C>T ENST00000361696.5 - 4 374 c.342G>A c.(340-342)gaG>gaA p.E114E UTS2_ENST00000054668.5_Silent_p.E129E|UTS2_ENST00000377516.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATCAGGAGTCTCACGTTTCT 0.35910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false UTS2:10911 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050000000305040402000100 1 false 144 rs757148544 7907859 true -UTS2 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 7913430 true +UTS2 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M|UTS2_ENST00000361696.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 7913430 true TNFRSF9 __UNKNOWN__ hg19 1 7980338 7980338 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7980338A>G ENST00000377507.3 - 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTAGCTCAAACCTGTTAAGT 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TNFRSF9 __UNKNOWN__ hg19 1 7998254 7998254 + Splice_Site SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7998254T>G ENST00000377507.3 - 4 512 c.345A>C c.(343-345)aaA>aaC p.K115N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAACGTACCTTTTTTTGTCA 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TNFRSF9 __UNKNOWN__ hg19 1 7998390 7998390 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7998390C>T ENST00000377507.3 - 4 376 c.209G>A c.(208-210)gGt>gAt p.G70D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGAAAACACCTACAAAGTC 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TNFRSF9 __UNKNOWN__ hg19 1 7999982 7999982 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7999982G>A ENST00000377507.3 - 2 240 c.73C>T c.(73-75)Cag>Tag p.Q25* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGGATCCTGCAATGATCTT 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PARK7 __UNKNOWN__ hg19 1 8021973 8021973 + 5'UTR SNP G G T 35675666 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8021973G>T ENST00000377491.1 + 1 PARK7_ENST00000493678.1_Intron|PARK7_ENST00000338639.5_Intron|PARK7_ENST00000377493.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGGGCCTGGGTCGGGGCCG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8518,.,0.1482 false false 1 false true true PARK7:11315 true true true true true false true false false false false false false false false true true false true false false false 0 true 0 false 0.816402,.,0.183598 false false false SNV 0x0501280a0005170537020100 1 false 126 rs35675666 8021973 true +PARK7 __UNKNOWN__ hg19 1 8021973 8021973 + 5'UTR SNP G G T 35675666 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8021973G>T ENST00000377491.1 + 1 PARK7_ENST00000493678.1_Intron|PARK7_ENST00000338639.5_Intron|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000377488.1_5'Flank|PARK7_ENST00000497113.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGGGCCTGGGTCGGGGCCG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8518,.,0.1482 false false 1 false true true PARK7:11315 true true true true true false true false false false false false false false false true true false true false false false 0 true 0 false 0.816402,.,0.183598 false false false SNV 0x0501280a0005170537020100 1 false 126 rs35675666 8021973 true PARK7 __UNKNOWN__ hg19 1 8029464 8029464 + Splice_Site SNP G G A 749774196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8029464G>A ENST00000493678.1 + 4 319 c.252G>A c.(250-252)gaG>gaA p.E84E PARK7_ENST00000377491.1_Splice_Site_p.E84E|PARK7_ENST00000338639.5_Splice_Site_p.E84E|PARK7_ENST00000377488.1_Splice_Site_p.E84E|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000497113.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTATCTGAGGTAAAAAATT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false PARK7:11315 false true true false false false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000080305000402000100 1 false 144 rs749774196 8029464 false PARK7 __UNKNOWN__ hg19 1 8029464 8029464 + Splice_Site SNP G G A 749774196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8029464G>A ENST00000493678.1 + 4 319 c.252G>A c.(250-252)gaG>gaA p.E84E PARK7_ENST00000377491.1_Splice_Site_p.E84E|PARK7_ENST00000338639.5_Splice_Site_p.E84E|PARK7_ENST00000377488.1_Splice_Site_p.E84E|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000497113.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTATCTGAGGTAAAAAATT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false PARK7:11315 false true true false false false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000080305000402000100 1 false 144 rs749774196 8029464 false PARK7 __UNKNOWN__ hg19 1 8045015 8045020 + In_Frame_Del DEL GCC GCC - 764877312 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8045015_8045017delGCC ENST00000493678.1 + 7 537_539 c.471_473delGCC c.(469-474)gggcct>ggt p.P158del PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCCGGGGGCCTGGGACCAGC 0.4466501240694789 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PARK7:11315 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005040402000200 1 false 144 rs764877312 8045015 true @@ -860,13 +860,13 @@ SLC2A5 __UNKNOWN__ hg19 1 9097251 9097251 + 3'UTR SNP A A G __UNKNOWN__ __UNK SLC2A5 __UNKNOWN__ hg19 1 9097696 9097696 + Nonsense_Mutation SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9097696G>C ENST00000377424.4 - 12 1635 c.1455C>G c.(1453-1455)taC>taG p.Y485* SLC2A5_ENST00000536305.1_Nonsense_Mutation_p.Y426*|SLC2A5_ENST00000535586.1_Nonsense_Mutation_p.Y370* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTTTCCGGGTACACTTCAG 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC2A5 __UNKNOWN__ hg19 1 9117596 9117596 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9117596C>T ENST00000377424.4 - 3 384 c.204G>A c.(202-204)acG>acA p.T68T SLC2A5_ENST00000377414.3_Silent_p.T68T|SLC2A5_ENST00000535586.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACAGCAACGTCAAGGGGA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC2A5 __UNKNOWN__ hg19 1 9118247 9118247 + Nonsense_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9118247A>C ENST00000377424.4 - 2 276 c.96T>G c.(94-96)taT>taG p.Y32* SLC2A5_ENST00000377414.3_Nonsense_Mutation_p.Y32*|SLC2A5_ENST00000535586.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTTGTACCCATACTGGAAGG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SLC2A5 __UNKNOWN__ hg19 1 9129620 9129620 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9129620C>T ENST00000377424.4 - 1 SLC2A5_ENST00000377414.3_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAGAGTGCCGCTCACCTCC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SLC2A5 __UNKNOWN__ hg19 1 9129620 9129620 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9129620C>T ENST00000377424.4 - 1 SLC2A5_ENST00000377414.3_5'UTR|SLC2A5_ENST00000535586.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAGAGTGCCGCTCACCTCC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GPR157 __UNKNOWN__ hg19 1 9164133 9164133 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9164133G>A ENST00000377411.4 - 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCCTCAGATTGTAAACA 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GPR157 __UNKNOWN__ hg19 1 9171336 9171336 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9171336G>A ENST00000377411.4 - 2 739 c.596C>T c.(595-597)gCg>gTg p.A199V GPR157_ENST00000414642.2_Splice_Site_p.A199V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCGCCTACCGCTCTGTTGAT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP3-510D11.2 __UNKNOWN__ hg19 1 9250991 9250991 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9250991C>T ENST00000412639.2 + c.e3-461C>T RP3-510D11.1_ENST00000437157.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGATTGACAAGGCCTTTT 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP3-510D11.1 __UNKNOWN__ hg19 1 9256200 9256200 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9256200G>A ENST00000437157.2 - c.e1-6438C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCCATGAGGGCTCCTGTCTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false H6PD __UNKNOWN__ hg19 1 9307033 9307033 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9307033G>A ENST00000377403.2 + 3 938 c.636G>A c.(634-636)gcG>gcA p.A212A H6PD_ENST00000602477.1_Silent_p.A223A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCTGTGGCGCAGATCCTGC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -H6PD __UNKNOWN__ hg19 1 9324385 9324385 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9324385G>A ENST00000377403.2 + 5 2135 c.1833G>A c.(1831-1833)tgG>tgA p.W611* H6PD_ENST00000602477.1_Nonsense_Mutation_p.W622* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTCCCCTGGGCCCACACGC 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +H6PD __UNKNOWN__ hg19 1 9324385 9324385 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9324385G>A ENST00000377403.2 + 5 2135 c.1833G>A c.(1831-1833)tgG>tgA p.W611* H6PD_ENST00000602477.1_Nonsense_Mutation_p.W622*|H6PD_ENST00000495451.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTCCCCTGGGCCCACACGC 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false H6PD __UNKNOWN__ hg19 1 9326132 9326132 + 3'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9326132A>C ENST00000377403.2 + 5 H6PD_ENST00000602477.1_3'UTR|H6PD_ENST00000495451.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCCAGTTAAATCACCCACT 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false H6PD __UNKNOWN__ hg19 1 9327413 9327413 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9327413T>G ENST00000377403.2 + 5 H6PD_ENST00000602477.1_3'UTR|H6PD_ENST00000495451.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCGGATTTCATTTCCCTC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SPSB1 __UNKNOWN__ hg19 1 9427508 9427508 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9427508C>T ENST00000328089.6 + 3 1037 c.696C>T c.(694-696)ccC>ccT p.P232P SPSB1_ENST00000357898.3_Splice_Site_p.P232P|SPSB1_ENST00000377399.2_Splice_Site_p.P232P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCCCCAGCCGAGCCGCTGC 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -889,8 +889,8 @@ LZIC __UNKNOWN__ hg19 1 9996684 9996684 + 5'UTR SNP C C T 199633051 byFrequency NMNAT1 __UNKNOWN__ hg19 1 10042426 10042426 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10042426G>A ENST00000377205.1 + 5 651 c.507G>A c.(505-507)tgG>tgA p.W169* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAATTTGTGGAAGAGTGAAG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false KIF1B __UNKNOWN__ hg19 1 10438687 10438687 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10438687C>T ENST00000377081.1 + 48 KIF1B_ENST00000377086.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCGCTTCACGCAGCAAAGG 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PGD __UNKNOWN__ hg19 1 10478955 10478956 + Frame_Shift_Del DEL C C - 767877628 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10478955delC ENST00000270776.8 + 11 1219 c.1182delC c.(1180-1182)ttcfs p.F395fs PGD_ENST00000538557.1_Frame_Shift_Del_p.F382fs|PGD_ENST00000541529.1_Frame_Shift_Del_p.F373fs|PGD_ENST00000498356.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGACGACTTCTTTAAGTCAG 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PGD:5226 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs767877628 10478955 false -RP4-736L20.3 __UNKNOWN__ hg19 1 10489949 10489949 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10489949G>A ENST00000607572.1 - c.e1+11C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTTTGATGGTCTCACTTC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -APITD1-CORT __UNKNOWN__ hg19 1 10494013 10494013 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10494013C>T ENST00000400900.2 + 2 582 c.166C>T c.(166-168)Cga>Tga p.R56* APITD1_ENST00000309048.3_Nonsense_Mutation_p.R56*|APITD1-CORT_ENST00000470413.2_Nonsense_Mutation_p.R56*|APITD1_ENST00000602787.1_Nonsense_Mutation_p.R56*|APITD1_ENST00000602296.1_Nonsense_Mutation_p.R56*|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000465026.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGACTTTCCGACAGTGTGG 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +APITD1 __UNKNOWN__ hg19 1 10489949 10489949 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10489949G>A ENST00000309048.3 + APITD1-CORT_ENST00000400900.2_5'Flank|APITD1_ENST00000462462.1_5'Flank|APITD1-CORT_ENST00000465026.1_5'Flank|APITD1-CORT_ENST00000470413.2_5'Flank|APITD1_ENST00000602296.1_5'Flank|APITD1_ENST00000602787.1_5'Flank|RP4-736L20.3_ENST00000607572.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTTTGATGGTCTCACTTC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +APITD1-CORT __UNKNOWN__ hg19 1 10494013 10494013 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10494013C>T ENST00000400900.2 + 2 582 c.166C>T c.(166-168)Cga>Tga p.R56* APITD1_ENST00000309048.3_Nonsense_Mutation_p.R56*|APITD1-CORT_ENST00000470413.2_Nonsense_Mutation_p.R56*|APITD1_ENST00000602787.1_Nonsense_Mutation_p.R56*|APITD1_ENST00000602296.1_Nonsense_Mutation_p.R56*|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|RP4-736L20.3_ENST00000607572.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGACTTTCCGACAGTGTGG 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false APITD1 __UNKNOWN__ hg19 1 10502373 10502373 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10502373C>T ENST00000309048.3 + 5 403 c.328C>T c.(328-330)Cga>Tga p.R110* APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000465026.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCTAGAACGAAAAGCACA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false APITD1 __UNKNOWN__ hg19 1 10502710 10502710 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10502710A>G ENST00000309048.3 + 5 APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTGTGATCAAATGGTATAT 0.32169576059850374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PEX14 __UNKNOWN__ hg19 1 10596294 10596294 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10596294C>T ENST00000356607.4 + 3 189 c.109C>T c.(109-111)Cag>Tag p.Q37* PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTTTCTACAGAATTCCCG 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -899,7 +899,7 @@ MASP2 __UNKNOWN__ hg19 1 11087334 11087334 + Nonsense_Mutation SNP C C A __UN MASP2 __UNKNOWN__ hg19 1 11097774 11097774 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11097774G>T ENST00000400897.3 - 7 1000 c.984C>A c.(982-984)tgC>tgA p.C328* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCAGTCTCGCAAAAGATGG 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MASP2 __UNKNOWN__ hg19 1 11106783 11106783 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11106783G>T ENST00000400897.3 - 3 258 c.242C>A c.(241-243)tCg>tAg p.S81* MASP2_ENST00000400898.3_Nonsense_Mutation_p.S81* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGGCCCCCGAGCTCAGCTG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false EXOSC10 __UNKNOWN__ hg19 1 11128123 11128123 + Nonsense_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11128123T>A ENST00000376936.4 - 24 2619 c.2569A>T c.(2569-2571)Aaa>Taa p.K857* EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.K832*|EXOSC10_ENST00000544779.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTTAATTTTTTTGGCTGCA 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -EXOSC10 __UNKNOWN__ hg19 1 11147637 11147637 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11147637G>T ENST00000376936.4 - 9 1007 c.957C>A c.(955-957)taC>taA p.Y319* EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000544779.1_Nonsense_Mutation_p.Y319* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGCTCCTGTAAGAGTGGT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +EXOSC10 __UNKNOWN__ hg19 1 11147637 11147637 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11147637G>T ENST00000376936.4 - 9 1007 c.957C>A c.(955-957)taC>taA p.Y319* EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000544779.1_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000485606.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGCTCCTGTAAGAGTGGT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ANGPTL7 __UNKNOWN__ hg19 1 11253688 11253688 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11253688C>T ENST00000376819.3 + 3 768 c.529C>T c.(529-531)Cga>Tga p.R177* MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCAGAGACGAAAAAGTGG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ANGPTL7 __UNKNOWN__ hg19 1 11253722 11253722 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11253722G>A ENST00000376819.3 + 3 802 c.563G>A c.(562-564)tGg>tAg p.W188* MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACCGGGACTGGAAGCAGTAC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false UBIAD1 __UNKNOWN__ hg19 1 11346336 11346336 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11346336A>G ENST00000376810.5 + 2 UBIAD1_ENST00000376804.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGTTCTTAAAGATAATATG 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -912,12 +912,12 @@ AGTRAP __UNKNOWN__ hg19 1 11810674 11810674 + 3'UTR SNP G G A __UNKNOWN__ __U MTHFR __UNKNOWN__ hg19 1 11846252 11846252 + 3'UTR SNP G G A 4846048 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11846252G>A ENST00000376592.1 - 11 C1orf167_ENST00000433342.1_Intron|MTHFR_ENST00000376583.3_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCAACAAGTGGTGATAAG 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2935,0.7065 false false 1 false true true MTHFR:4524|C1orf167:284498 true true true true true false false false false false false false false false false true true true false false false false 0 true 0 false 0.359949,0.640051 false true false SNV 0x0501288c000517053f000100 1 false 111 rs4846048 11846252 true MTHFR __UNKNOWN__ hg19 1 11855351 11855351 + Nonsense_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11855351C>A ENST00000376585.1 - 7 2010 c.958G>T c.(958-960)Gag>Tag p.E320* MTHFR_ENST00000376592.1_Nonsense_Mutation_p.E279*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.E279*|MTHFR_ENST00000376583.3_Nonsense_Mutation_p.E320* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTTGATCTCCTGTGGCACC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CLCN6 __UNKNOWN__ hg19 1 11894624 11894624 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11894624G>A ENST00000346436.6 + 17 1822 c.1770G>A c.(1768-1770)tgG>tgA p.W590* CLCN6_ENST00000376496.3_Nonsense_Mutation_p.W590*|CLCN6_ENST00000376487.3_Nonsense_Mutation_p.W568*|CLCN6_ENST00000312413.6_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTGGAATGGGAGACAGAGG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CLCN6 __UNKNOWN__ hg19 1 11901592 11901592 + 3'UTR SNP T T C 198415 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11901592T>C ENST00000346436.6 + 23 CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACATGGTATTAGTCCCAGCA 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8381,0.1619 false false 1 false true false CLCN6:1185|NPPA-AS1:100379251 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.760286,0.239714 false true false SNV 0x05010088000515053f000100 1 false 79 rs198415 11901592 true +CLCN6 __UNKNOWN__ hg19 1 11901592 11901592 + 3'UTR SNP T T C 198415 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11901592T>C ENST00000346436.6 + 23 CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACATGGTATTAGTCCCAGCA 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8381,0.1619 false false 1 false true false CLCN6:1185|NPPA-AS1:100379251 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.760286,0.239714 false true false SNV 0x05010088000515053f000100 1 false 79 rs198415 11901592 true NPPA __UNKNOWN__ hg19 1 11906068 11906068 + Nonstop_Mutation SNP A A G 5065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11906068A>G ENST00000376480.3 - 3 553 c.454T>C c.(454-456)Tga>Cga p.*152R NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTATCTTCAGTACTGCAAA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8209,0.1791 false false 1 false true false NPPA:4878|NPPA-AS1:100379251 true true true true true false false false false false false false false false false true true false false true false false 0 true 0 false 0.737688,0.262312 true false false SNV 0x05013808020515053f000100 1 false 52 rs5065 11906068 true NPPA __UNKNOWN__ hg19 1 11906068 11906068 + Nonstop_Mutation SNP A A G 5065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11906068A>G ENST00000376480.3 - 3 553 c.454T>C c.(454-456)Tga>Cga p.*152R NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTATCTTCAGTACTGCAAA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8209,0.1791 false false 1 false true false NPPA:4878|NPPA-AS1:100379251 true true true true true false false false false false false false false false false true true false false true false false 0 true 0 false 0.737688,0.262312 true false false SNV 0x05013808020515053f000100 1 false 52 rs5065 11906068 true PLOD1 __UNKNOWN__ hg19 1 12025599 12025599 + Nonsense_Mutation SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12025599C>G ENST00000196061.4 + 14 1560 c.1533C>G c.(1531-1533)taC>taG p.Y511* PLOD1_ENST00000376369.3_Nonsense_Mutation_p.Y558* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGACAGCTACCGCACCACCC 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MFN2 __UNKNOWN__ hg19 1 12069757 12069764 + Frame_Shift_Del DEL ACTT ACTT - 772270096 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12069757_12069760delACTT ENST00000235329.5 + 18 2499_2502 c.2178_2181delACTT c.(2176-2181)tcacttfs p.L727fs MFN2_ENST00000444836.1_Frame_Shift_Del_p.L727fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTTGACTCACTTCAGAGCAAAG 0.5693069306930693 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MFN2:9927 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs772270096 12069757 false -MIIP __UNKNOWN__ hg19 1 12082195 12082195 + Nonsense_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12082195C>A ENST00000235332.4 + 3 327 c.158C>A c.(157-159)tCg>tAg p.S53* MIIP_ENST00000436478.2_Nonsense_Mutation_p.S53* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGACTCCATCGACCCCAGAG 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MIIP __UNKNOWN__ hg19 1 12082195 12082195 + Nonsense_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12082195C>A ENST00000235332.4 + 3 327 c.158C>A c.(157-159)tCg>tAg p.S53* MIIP_ENST00000436478.2_Nonsense_Mutation_p.S53*|MIIP_ENST00000466860.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGACTCCATCGACCCCAGAG 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MIIP __UNKNOWN__ hg19 1 12090140 12090140 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12090140C>T ENST00000235332.4 + 8 1070 c.901C>T c.(901-903)Cga>Tga p.R301* MIIP_ENST00000436478.2_Intron|MIIP_ENST00000466860.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCACCGGCGAAAGAGCTT 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VPS13D __UNKNOWN__ hg19 1 12318010 12318010 + Nonsense_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12318010T>G ENST00000358136.3 + 10 1090 c.960T>G c.(958-960)taT>taG p.Y320* VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Y320* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATGGTGGTATTTTGCTTTGA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VPS13D __UNKNOWN__ hg19 1 12336193 12336193 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12336193G>T ENST00000358136.3 + 19 2678 c.2548G>T c.(2548-2550)Gag>Tag p.E850* VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E850* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATGTGGTAGAGAAGTTCAA 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -925,7 +925,7 @@ VPS13D __UNKNOWN__ hg19 1 12446382 12446382 + Nonsense_Mutation SNP C C T __U DHRS3 __UNKNOWN__ hg19 1 12627990 12627990 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12627990T>C ENST00000376223.2 - 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCAGTTTGTGCAAGCTGAG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DHRS3 __UNKNOWN__ hg19 1 12628067 12628067 + 3'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12628067A>C ENST00000376223.2 - 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTCTATGCACACTGCTGAG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DHRS3 __UNKNOWN__ hg19 1 12628188 12628188 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12628188T>C ENST00000376223.2 - 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCAGTTATACCCATCAGT 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -DHRS3 __UNKNOWN__ hg19 1 12677525 12677525 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12677525G>A ENST00000376223.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGAGAAAAAGAAAAAAAAAA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DHRS3 __UNKNOWN__ hg19 1 12677525 12677525 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12677525G>A ENST00000376223.2 - 1 DHRS3_ENST00000482265.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGAGAAAAAGAAAAAAAAAA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AADACL4 __UNKNOWN__ hg19 1 12726174 12726174 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12726174C>T ENST00000376221.1 + 4 652 c.652C>T c.(652-654)Cag>Tag p.Q218* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCCGGGCTCAGGTTCTGAT 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AADACL3 __UNKNOWN__ hg19 1 12776218 12776218 + 5'UTR SNP A A C 3000860 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12776218A>C ENST00000359318.5 + 1 AADACL3_ENST00000332530.3_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCAGCCTGAGTGTTCTCAC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1436,0.8564 false false 1 false true true AADACL3:126767 true true false true true false false false false false false false true false false false false false false true true false 0 true 0 false false false true SNV 0x05010040060517053f000100 1 false 101 rs3000860 12776218 true AADACL3 __UNKNOWN__ hg19 1 12776344 12776344 + 5'UTR SNP A A T 3000859 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12776344A>T ENST00000359318.5 + 1 AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGTTGACATGGGTGAGTT 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3435,0.6565 false false 1 false true true AADACL3:126767 true true false true true false false false false false false true false false false false false false false true true true 0 true 0 true false false false SNV 0x050300000b0517053f000100 1 false 101 rs3000859 12776344 true @@ -942,8 +942,8 @@ PRAMEF2 __UNKNOWN__ hg19 1 12919891 12919891 + Nonsense_Mutation SNP G G T __ PRAMEF16 __UNKNOWN__ hg19 1 13497778 13497779 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13497778delT ENST00000376121.3 + 3 1104 c.1075delT c.(1075-1077)tgtfs p.C359fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTAAAGGACTGTCAGATCCA 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LRRC38 __UNKNOWN__ hg19 1 13801621 13801621 + 3'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13801621A>C ENST00000376085.3 - 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACCTTTCATGAGGGCACT 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LRRC38 __UNKNOWN__ hg19 1 13840410 13840410 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13840410T>G ENST00000376085.3 - 1 RP4-597A16.2_ENST00000563570.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGTGGCCGTCGCCAAAACG 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP4-597A16.2 __UNKNOWN__ hg19 1 13842586 13842586 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13842586A>G ENST00000563570.1 + c.e3-79A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACAAACCTATTGAGAAATA 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP4-597A16.2 __UNKNOWN__ hg19 1 13842679 13842679 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13842679G>A ENST00000563570.1 + c.e3+14G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGAGGGCCGCATGGGGAAG 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +LRRC38 __UNKNOWN__ hg19 1 13842586 13842586 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13842586A>G ENST00000376085.3 - RP4-597A16.2_ENST00000563570.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACAAACCTATTGAGAAATA 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +LRRC38 __UNKNOWN__ hg19 1 13842679 13842679 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13842679G>A ENST00000376085.3 - RP4-597A16.2_ENST00000563570.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGAGGGCCGCATGGGGAAG 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PDPN __UNKNOWN__ hg19 1 13940884 13940884 + Nonsense_Mutation SNP C C T 370056113 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13940884C>T ENST00000509009.1 + 5 489 c.445C>T c.(445-447)Cga>Tga p.R149* PDPN_ENST00000294489.6_Nonsense_Mutation_p.R230*|PDPN_ENST00000376057.4_Nonsense_Mutation_p.R230*|PDPN_ENST00000376061.4_Nonsense_Mutation_p.R112*|PDPN_ENST00000513143.1_Nonsense_Mutation_p.R112*|PDPN_ENST00000475043.1_Nonsense_Mutation_p.R112*|PDPN_ENST00000487038.1_Nonsense_Mutation_p.R112* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGGTTATGCGAAAAATGTC 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PDPN:10630 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605040402000100 1 false 138 rs370056113 13940884 true PRDM2 __UNKNOWN__ hg19 1 14032007 14032007 + 5'UTR SNP G G A 2495060 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14032007G>A ENST00000235372.7 + 1 PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCCTGCACCGTCTACCCTTC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9439,0.05611 false false 1 false true false PRDM2:7799 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.91349,0.0865101 false false true SNV 0x050100480005150537000100 1 false 100 rs2495060 14032007 true PRDM2 __UNKNOWN__ hg19 1 14059374 14059374 + Nonsense_Mutation SNP G G A 148256671 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14059374G>A ENST00000235372.7 + 4 1084 c.228G>A c.(226-228)tgG>tgA p.W76* PRDM2_ENST00000376048.5_Nonsense_Mutation_p.W76*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.W76* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATACATGTGGGAGGTAAGAA 0.2743142144638404 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false PRDM2:7799 false true false true true false false false false false false false true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000605040436000100 1 false 134 rs148256671 14059374 true @@ -958,7 +958,7 @@ TMEM51-AS1 __UNKNOWN__ hg19 1 15446168 15446168 + RNA SNP G G A __UNKNOWN__ _ TMEM51-AS1 __UNKNOWN__ hg19 1 15466832 15466832 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15466832C>T ENST00000310916.3 - c.e1-11955G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCTGGACTCTCCTGCTG 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM51-AS1 __UNKNOWN__ hg19 1 15467263 15467263 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15467263C>T ENST00000310916.3 - c.e1-11524G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGAAAGACGATGAGGGTG 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM51-AS1 __UNKNOWN__ hg19 1 15471992 15471992 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15471992T>G ENST00000310916.3 - c.e1-6795A>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTCTAATCTAAAGATCTCA 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TMEM51-AS1 __UNKNOWN__ hg19 1 15477865 15477865 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15477865G>A ENST00000310916.3 - c.e1-922C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAAGGAGAGGCATGCTTCCT 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM51 __UNKNOWN__ hg19 1 15477865 15477865 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15477865G>A ENST00000376008.2 + TMEM51_ENST00000376014.3_5'Flank|TMEM51_ENST00000400796.3_5'Flank|TMEM51_ENST00000428417.1_5'Flank|TMEM51_ENST00000434578.2_5'Flank|TMEM51-AS1_ENST00000310916.3_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAAGGAGAGGCATGCTTCCT 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM51 __UNKNOWN__ hg19 1 15546761 15546761 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15546761G>A ENST00000428417.1 + 3 TMEM51_ENST00000376008.2_3'UTR|TMEM51_ENST00000376014.3_3'UTR|TMEM51_ENST00000400796.3_3'UTR|TMEM51_ENST00000434578.2_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGGCTCTCGCAGAGCCCCT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FHAD1 __UNKNOWN__ hg19 1 15701094 15701094 + Nonsense_Mutation SNP C C T 367730091 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15701094C>T ENST00000375998.4 + 25 3478 c.3478C>T c.(3478-3480)Cga>Tga p.R1160* FHAD1_ENST00000358897.4_Nonsense_Mutation_p.R1160*|FHAD1_ENST00000417793.1_Nonsense_Mutation_p.R1124*|FHAD1_ENST00000375999.3_Nonsense_Mutation_p.R1160*|FHAD1_ENST00000314740.8_Nonsense_Mutation_p.R413*|FHAD1_ENST00000471347.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTCGAGCGCGAATTAAAGA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false FHAD1:114827 false true false false true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999141,0.000858575 false false false SNV 0x050000000605040426000100 1 false 138 rs367730091 15701094 true RP3-467K16.4 __UNKNOWN__ hg19 1 15732793 15732793 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15732793A>G ENST00000427824.1 - c.e3-1610T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAAAGGATCAATCGTCTTGGT 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -968,7 +968,7 @@ CELA2B __UNKNOWN__ hg19 1 15813922 15813922 + Nonsense_Mutation SNP G G A __U CASP9 __UNKNOWN__ hg19 1 15844653 15844653 + Nonsense_Mutation SNP C C A 201216482 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15844653C>A ENST00000333868.5 - 2 465 c.370G>T c.(370-372)Gaa>Taa p.E124* CASP9_ENST00000546424.1_Nonsense_Mutation_p.E124*|CASP9_ENST00000348549.5_Nonsense_Mutation_p.E124*|CASP9_ENST00000375890.4_Nonsense_Mutation_p.E41*|CASP9_ENST00000469637.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGGTGTTTCCGGTCTGAGA 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CASP9:842 false true true false false false false false false false false false true false false false false false false true false false 0 false 0 false false false true SNV 0x050000480605040402000100 1 false 137 rs201216482 15844653 true CASP9 __UNKNOWN__ hg19 1 15844755 15844755 + Nonsense_Mutation SNP G G A 144884967 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15844755G>A ENST00000333868.5 - 2 363 c.268C>T c.(268-270)Cga>Tga p.R90* CASP9_ENST00000546424.1_Nonsense_Mutation_p.R90*|CASP9_ENST00000348549.5_Nonsense_Mutation_p.R90*|CASP9_ENST00000375890.4_Nonsense_Mutation_p.R7*|CASP9_ENST00000469637.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTTAGTTCGCAGAAACGAA 0.513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CASP9:842 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false true SNV 0x050000400605040402000100 1 false 134 rs144884967 15844755 true DNAJC16 __UNKNOWN__ hg19 1 15863057 15863057 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15863057C>T ENST00000375847.3 + 4 486 c.322C>T c.(322-324)Cga>Tga p.R108* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R108*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R108* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAACAGCAGCGAGAGTATCG 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -DNAJC16 __UNKNOWN__ hg19 1 15886024 15886024 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15886024C>T ENST00000375847.3 + 8 1191 c.1027C>T c.(1027-1029)Cga>Tga p.R343* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R343*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R343* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCTAGGCCCGAGGTATGAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DNAJC16 __UNKNOWN__ hg19 1 15886024 15886024 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15886024C>T ENST00000375847.3 + 8 1191 c.1027C>T c.(1027-1029)Cga>Tga p.R343* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R343*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R343*|DNAJC16_ENST00000483270.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCTAGGCCCGAGGTATGAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DNAJC16 __UNKNOWN__ hg19 1 15886141 15886141 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15886141C>T ENST00000375847.3 + 8 1308 c.1144C>T c.(1144-1146)Cga>Tga p.R382* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R382*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R382*|DNAJC16_ENST00000483270.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGTCGCATCGACAGAGGAA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AGMAT __UNKNOWN__ hg19 1 15909882 15909883 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15909882delG ENST00000375826.3 - 2 425 c.281delC c.(280-282)cctfs p.P94fs DNAJC16_ENST00000483270.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGCGGCGAGGTCCGAATCT 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RSC1A1 __UNKNOWN__ hg19 1 15986922 15986922 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15986922C>T ENST00000345034.1 + 1 559 c.559C>T c.(559-561)Caa>Taa p.Q187* DDI2_ENST00000480945.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCACATGACCAAGAATATCT 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -977,15 +977,15 @@ RSC1A1 __UNKNOWN__ hg19 1 15987735 15987735 + Nonsense_Mutation SNP G G T __U RSC1A1 __UNKNOWN__ hg19 1 15987735 15987735 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15987735G>T ENST00000345034.1 + 1 1372 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* DDI2_ENST00000480945.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCGATAAGGAAGGTGTCCC 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RSC1A1 __UNKNOWN__ hg19 1 15987835 15987836 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15987835delA ENST00000345034.1 + 1 1471 c.1472delA c.(1471-1473)gaafs p.I492fs DDI2_ENST00000480945.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAGGTGTAGAAATTTCACCC 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DDI2 __UNKNOWN__ hg19 1 15993338 15993338 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15993338A>G ENST00000480945.1 + 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGGTTCCACTTCAGAGCA 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PLEKHM2 __UNKNOWN__ hg19 1 16054617 16054617 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16054617C>T ENST00000375799.3 + 10 2031 c.1804C>T c.(1804-1806)Cga>Tga p.R602* PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.R582*|RP11-288I21.1_ENST00000453804.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACGTGTTCCGAGAAAACGA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-169K16.4 __UNKNOWN__ hg19 1 16067904 16067904 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16067904T>C ENST00000418525.1 - c.e2+1187A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTCTGTGGTGAATCTCAGT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-169K16.4 __UNKNOWN__ hg19 1 16068364 16068364 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16068364G>A ENST00000418525.1 - c.e2+1647C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGATGGAGCCTGGGACTT 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PLEKHM2 __UNKNOWN__ hg19 1 16054617 16054617 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16054617C>T ENST00000375799.3 + 10 2031 c.1804C>T c.(1804-1806)Cga>Tga p.R602* PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.R582*|PLEKHM2_ENST00000477849.1_5'Flank|RP11-288I21.1_ENST00000453804.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACGTGTTCCGAGAAAACGA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM82 __UNKNOWN__ hg19 1 16067904 16067904 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16067904T>C ENST00000375782.1 + TMEM82_ENST00000465575.1_5'Flank|RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTCTGTGGTGAATCTCAGT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM82 __UNKNOWN__ hg19 1 16068364 16068364 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16068364G>A ENST00000375782.1 + TMEM82_ENST00000465575.1_5'Flank|RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGATGGAGCCTGGGACTT 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM82 __UNKNOWN__ hg19 1 16070922 16070922 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16070922C>T ENST00000375782.1 + 4 742 c.604C>T c.(604-606)Cag>Tag p.Q202* RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCTCCCCCAGCTGCTGGG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FBLIM1 __UNKNOWN__ hg19 1 16096939 16096939 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16096939C>T ENST00000375766.3 + 6 1217 c.577C>T c.(577-579)Cga>Tga p.R193* FBLIM1_ENST00000375771.1_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000441801.2_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000332305.5_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000400773.1_Nonsense_Mutation_p.R96* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGTCCCCCCGAGAGCTGGC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-169K16.9 __UNKNOWN__ hg19 1 16161836 16161836 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16161836T>C ENST00000317122.1 - c.e2+862A>G RP11-169K16.9_ENST00000535249.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGTGAAGATGGGTGGTGAA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SPEN __UNKNOWN__ hg19 1 16255007 16255007 + Nonsense_Mutation SNP C C T 72649638 by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16255007C>T ENST00000375759.3 + 11 2476 c.2272C>T c.(2272-2274)Cga>Tga p.R758* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTACAGCCGATCCTCAGA 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SPEN:23013 false true false true false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x05000000060500041e000100 1 false 130 rs72649638 16255007 false -HSPB7 __UNKNOWN__ hg19 1 16341354 16341354 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16341354T>G ENST00000375718.4 - 4 HSPB7_ENST00000311890.9_3'UTR|HSPB7_ENST00000411503.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACCCCACTTGGCCTTGCC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CLCNKA __UNKNOWN__ hg19 1 16348412 16348412 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16348412T>C ENST00000375692.1 + 1 CLCNKA_ENST00000464764.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAATCTCCATGGTAAACCCC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +HSPB7 __UNKNOWN__ hg19 1 16341354 16341354 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16341354T>G ENST00000375718.4 - 4 HSPB7_ENST00000311890.9_3'UTR|HSPB7_ENST00000411503.1_3'UTR|CLCNKA_ENST00000464764.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACCCCACTTGGCCTTGCC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CLCNKA __UNKNOWN__ hg19 1 16348412 16348412 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16348412T>C ENST00000375692.1 + 1 HSPB7_ENST00000311890.9_5'Flank|CLCNKA_ENST00000331433.4_5'Flank|HSPB7_ENST00000375718.4_5'Flank|HSPB7_ENST00000406363.2_5'Flank|HSPB7_ENST00000411503.1_5'Flank|CLCNKA_ENST00000420078.1_5'Flank|CLCNKA_ENST00000439316.2_5'Flank|HSPB7_ENST00000487046.1_5'Flank|HSPB7_ENST00000545268.1_5'Flank|CLCNKA_ENST00000464764.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAATCTCCATGGTAAACCCC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-276H7.3 __UNKNOWN__ hg19 1 16486793 16486793 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16486793A>G ENST00000426353.1 + c.e1+872A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGCTCTCAACCAACTGAAC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ARHGEF19 __UNKNOWN__ hg19 1 16524869 16524869 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16524869T>C ENST00000270747.3 - 16 ARHGEF19_ENST00000478117.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGAAACTATCCTTGGCCTT 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FBXO42 __UNKNOWN__ hg19 1 16574316 16574316 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16574316T>C ENST00000375592.3 - 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCTGCTGTATAACCTGTG 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1044,10 +1044,10 @@ ALDH4A1 __UNKNOWN__ hg19 1 19198895 19198895 + 3'UTR SNP A A G __UNKNOWN__ __ ALDH4A1 __UNKNOWN__ hg19 1 19198972 19198972 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198972G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGAGGTTTGCCAAGGGGCC 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ALDH4A1 __UNKNOWN__ hg19 1 19199067 19199067 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19199067G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCAGTGGAGGGCAGAGGGA 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ALDH4A1 __UNKNOWN__ hg19 1 19199217 19199217 + 3'UTR SNP A A G __UNKNOWN__ 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false false false false false false false false false false false false false false false false false false false +SH2D5 __UNKNOWN__ hg19 1 21047725 21047725 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21047725A>G ENST00000375031.1 - 9 KIF17_ENST00000247986.2_5'Flank|KIF17_ENST00000375044.1_5'Flank|KIF17_ENST00000400463.3_5'Flank|SH2D5_ENST00000460804.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGATACATATGAGAAACAG 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ECE1 __UNKNOWN__ hg19 1 21544601 21544601 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21544601C>T ENST00000415912.2 - 19 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTCTGCTACTGGAGAAGCT 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-293F5.1 __UNKNOWN__ hg19 1 21742614 21742614 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21742614T>C ENST00000444647.1 + c.e1+186T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTGAGAGATCCCAACAGTC 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NBPF3 __UNKNOWN__ hg19 1 21771685 21771685 + 5'UTR SNP C C T 758505231 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21771685C>T ENST00000318220.6 + 2 NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R36*|NBPF3_ENST00000318249.5_Nonsense_Mutation_p.R36*|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R36*|NBPF3_ENST00000478653.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGTGGGCCGACATCAAGA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NBPF3:84224 false false false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false true SNV 0x050000400605000002000100 1 false 144 rs758505231 21771685 false NBPF3 __UNKNOWN__ hg19 1 21795275 21795276 + Frame_Shift_Del DEL C C - 747818094 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21795275delC ENST00000318220.6 + 6 1107 c.60delC c.(58-60)atcfs p.N21fs NBPF3_ENST00000342104.5_Frame_Shift_Del_p.N77fs|NBPF3_ENST00000318249.5_Frame_Shift_Del_p.N77fs|NBPF3_ENST00000454000.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTAGAAATCAACAAGAAAT 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NBPF3:84224 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false DIV 0x050000081205040402000200 1 false 144 rs747818094 21795275 true NBPF3 __UNKNOWN__ hg19 1 21800057 21800058 + Frame_Shift_Ins INS - - C 747645859 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21800057_21800058insC ENST00000318220.6 + 10 1799 c.751_752insC c.(751-753)gatfs p.D251fs NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.D237fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATGGTTGGATGCTGTATG 0.4525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NBPF3:84224 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs747645859 21800057 true -ALPL __UNKNOWN__ hg19 1 21894605 21894606 + Frame_Shift_Del DEL G G - 769948289 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21894605delG ENST00000374840.3 + 7 906 c.657delG c.(655-657)atgfs p.G221fs ALPL_ENST00000374832.1_Frame_Shift_Del_p.G221fs|ALPL_ENST00000425315.2_Frame_Shift_Del_p.G221fs|ALPL_ENST00000540617.1_Frame_Shift_Del_p.G166fs|ALPL_ENST00000539907.1_Frame_Shift_Del_p.G144fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGATCATGGGGGGTGGCC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ALPL:249 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs769948289 21894605 false +ALPL __UNKNOWN__ hg19 1 21894605 21894606 + Frame_Shift_Del DEL G G - 769948289 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21894605delG ENST00000374840.3 + 7 906 c.657delG c.(655-657)atgfs p.G221fs ALPL_ENST00000374832.1_Frame_Shift_Del_p.G221fs|ALPL_ENST00000425315.2_Frame_Shift_Del_p.G221fs|ALPL_ENST00000540617.1_Frame_Shift_Del_p.G166fs|ALPL_ENST00000539907.1_Frame_Shift_Del_p.G144fs|ALPL_ENST00000374830.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGATCATGGGGGGTGGCC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ALPL:249 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs769948289 21894605 false RP11-63N8.3 __UNKNOWN__ hg19 1 21914362 21914362 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21914362C>T ENST00000457706.1 + c.e1+780C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGGAAGGCGGCCCAGGAA 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RAP1GAP __UNKNOWN__ hg19 1 21976289 21976289 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21976289C>T ENST00000374765.4 - 2 RAP1GAP_ENST00000542643.2_5'UTR|RAP1GAP_ENST00000290101.4_Splice_Site_p.G15G|RAP1GAP_ENST00000374757.3_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTGTCCACCCTGAAACACA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LINC00339 __UNKNOWN__ hg19 1 22354866 22354866 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:22354866T>C ENST00000416769.1 + c.e2-1907T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGCTGTATCCTAATGTGA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1096,7 +1096,7 @@ LUZP1 __UNKNOWN__ hg19 1 23435538 23435538 + DE_NOVO_START_IN_FRAME SNP G G A 1 TCEA3 __UNKNOWN__ hg19 1 23720492 23720493 + Frame_Shift_Del DEL C C - 769709955 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23720492delC ENST00000450454.2 - 8 807 c.699delG c.(697-699)aagfs p.K233fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTCCGGTACTTCATGTCCG 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TCEA3:6920 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs769709955 23720492 true TCEA3 __UNKNOWN__ hg19 1 23751126 23751126 + START_CODON_SNP SNP T T A 200503010 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23751126T>A ENST00000450454.2 - 1 108 c.1A>T c.(1-3)Atg>Ttg p.M1L TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGGCCCATGTTGGCCCGC 0.7506234413965087 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TCEA3:6920 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999794,0.000171715,3.4343e-005 false false false SNV 0x050200000a05040402000100 1 false 137 rs200503010 23751126 true ASAP3 __UNKNOWN__ hg19 1 23756350 23756350 + Nonstop_Mutation SNP T T C 148021104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23756350T>C ENST00000336689.3 - 25 2756 c.2711A>G c.(2710-2712)tAg>tGg p.*904W ASAP3_ENST00000437606.2_Nonstop_Mutation_p.*895W|ASAP3_ENST00000495646.1_Nonstop_Mutation_p.*408W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAAGGAGCTAGTCTTGCAA 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ASAP3:55616 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000205000402000100 1 false 134 rs148021104 23756350 false -RP5-886K2.3 __UNKNOWN__ hg19 1 24100223 24100223 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24100223C>T ENST00000427796.1 - c.e2+1307G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGAAGGGCCTTGTGTCCA 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP5-886K2.3 __UNKNOWN__ hg19 1 24100223 24100223 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24100223C>T ENST00000427796.1 - c.e2+1307G>A RP5-886K2.3_ENST00000447961.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGAAGGGCCTTGTGTCCA 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CNR2 __UNKNOWN__ hg19 1 24201028 24201029 + Frame_Shift_Del DEL G G - 758031503 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24201028delG ENST00000374472.4 - 2 1243 c.1080delC c.(1078-1080)tgcfs p.*361fs CNR2_ENST00000536471.1_Frame_Shift_Del_p.*361fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCTCATCAGCAATCAGAGA 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CNR2:1269 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs758031503 24201028 true RP11-293P20.2 __UNKNOWN__ hg19 1 24372971 24372971 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24372971C>T ENST00000439239.2 + c.e2+4136C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGACTGTATCCGCCCACATT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-293P20.2 __UNKNOWN__ hg19 1 24377326 24377326 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24377326T>C ENST00000439239.2 + c.e2+8491T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGGCCTGCTCCAGCTCCAG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1108,7 +1108,7 @@ RP11-10N16.2 __UNKNOWN__ hg19 1 24531634 24531634 + RNA SNP C C A __UNKNOWN__ RP11-10N16.2 __UNKNOWN__ hg19 1 24537652 24537652 + RNA SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24537652C>A ENST00000439059.2 + c.e3-531C>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATCACTTCTCCAGGAAGT 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-10N16.3 __UNKNOWN__ hg19 1 24636835 24636835 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24636835C>T ENST00000437965.1 - c.e3-330G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGACTCACGTAGACTGGC 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-10N16.3 __UNKNOWN__ hg19 1 24640314 24640314 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24640314G>A ENST00000437965.1 - c.e2+1832C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGTATTGAGGGGAGGTTGA 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-10N16.3 __UNKNOWN__ hg19 1 24645356 24645356 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24645356A>G ENST00000437965.1 - c.e1-2800T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGTAAAATATGTGTTGAAG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +GRHL3 __UNKNOWN__ hg19 1 24645356 24645356 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24645356A>G ENST00000236255.4 + GRHL3_ENST00000342072.4_5'Flank|GRHL3_ENST00000350501.5_5'Flank|GRHL3_ENST00000356046.2_5'Flank|GRHL3_ENST00000361548.4_5'Flank|GRHL3_ENST00000530984.1_5'Flank|RP11-10N16.3_ENST00000437965.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGTAAAATATGTGTTGAAG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false STPG1 __UNKNOWN__ hg19 1 24687425 24687426 + Frame_Shift_Ins INS - - A 868621625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24687425_24687426insA ENST00000374409.1 - 8 1099 c.843_844insT c.(844-846)aagfs p.K282fs STPG1_ENST00000337248.4_Frame_Shift_Ins_p.K282fs|STPG1_ENST00000003583.8_Frame_Shift_Ins_p.K235fs|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000440416.1_Frame_Shift_Ins_p.K235fs|STPG1_ENST00000468303.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAATGCTTGCGGGGGCCT 0.5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false STPG1:90529|GRHL3:57822 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs868621625 24687425 false RP4-594I10.3 __UNKNOWN__ hg19 1 24876383 24876383 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24876383T>C ENST00000577528.1 - c.e2-1996A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGACTTGGATGCTGAATCAA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP4-594I10.3 __UNKNOWN__ hg19 1 24877458 24877458 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24877458A>G ENST00000577528.1 - c.e2-921T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTCTCCAAAGCACTTATT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1132,7 +1132,7 @@ CEP85 __UNKNOWN__ hg19 1 26570763 26570764 + Frame_Shift_Del DEL C C - __UNKN RP5-968P14.2 __UNKNOWN__ hg19 1 27020012 27020012 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:27020012C>T ENST00000569378.1 - c.e1-610G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTGGGATCGTGGTGTGGG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-40H20.4 __UNKNOWN__ hg19 1 27558522 27558522 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:27558522C>T ENST00000425205.1 - c.e2-1414G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGGCGGGCGCCTGTAGTC 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false STX12 __UNKNOWN__ hg19 1 28120133 28120134 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28120133delC ENST00000373943.4 + 3 402 c.278delC c.(277-279)actfs p.T93fs STX12_ENST00000468761.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTTATCTACTTCAGAACAG 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SNHG12 __UNKNOWN__ hg19 1 28906454 28906454 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28906454C>T ENST00000488745.1 - c.e4+30G>A SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_Splice_Site|SNHG12_ENST00000475441.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGCTCACCTCCTCAGTAT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SNHG12 __UNKNOWN__ hg19 1 28906454 28906454 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28906454C>T ENST00000488745.1 - c.e4+30G>A SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_Splice_Site|SNHG12_ENST00000475441.1_Splice_Site|SNHG12_ENST00000384581.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGCTCACCTCCTCAGTAT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP1-212P9.2 __UNKNOWN__ hg19 1 29194818 29194818 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29194818A>G ENST00000443593.2 + c.e1-254A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATACGATCATCAGCCTCAC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP1-212P9.2 __UNKNOWN__ hg19 1 29194901 29194901 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29194901C>T ENST00000443593.2 + c.e1-171C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCACTTCACCTCCACGAGAG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP1-212P9.3 __UNKNOWN__ hg19 1 29200219 29200219 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29200219T>C ENST00000418471.1 - c.e2+1219A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTACACTCTTGGATCCCTG 0.5561097256857855 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1141,7 +1141,7 @@ RP3-437I16.1 __UNKNOWN__ hg19 1 29670073 29670073 + RNA SNP T T C __UNKNOWN__ RP11-111I12.1 __UNKNOWN__ hg19 1 30487342 30487342 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:30487342T>C ENST00000445180.2 - c.e7-14A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGAGAGCTTGGGGTGACTC 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-111I12.1 __UNKNOWN__ hg19 1 30494591 30494591 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:30494591G>A ENST00000445180.2 - c.e4-3281C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAAGTATCGCCATCTTAAC 0.29925187032418954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MATN1-AS1 __UNKNOWN__ hg19 1 31198733 31198733 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:31198733A>G ENST00000414532.2 + c.e3+151A>G MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000443076.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGTGTCCAGGGCTCAGGG 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-73M7.6 __UNKNOWN__ hg19 1 32110813 32110813 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32110813A>G ENST00000610043.1 + c.e1+916A>G RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGGCAAATGGGACGCAT 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP11-73M7.6 __UNKNOWN__ hg19 1 32110813 32110813 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32110813A>G ENST00000610043.1 + c.e1+916A>G RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA|RP11-73M7.6_ENST00000585413.1_5'Flank|RP11-73M7.6_ENST00000587445.1_5'Flank|RP11-73M7.6_ENST00000589462.1_5'Flank|RP11-73M7.6_ENST00000591929.1_5'Flank|RP11-73M7.6_ENST00000593188.1_5'Flank|RP11-73M7.6_ENST00000609033.1_5'Flank|RP11-73M7.6_ENST00000609338.1_5'Flank|RP11-73M7.6_ENST00000609373.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGGCAAATGGGACGCAT 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PTP4A2 __UNKNOWN__ hg19 1 32374453 32374454 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32374453delC ENST00000602725.1 - 5 923 c.505_504delG c.(502-504)tagfs p.M169fs PTP4A2_ENST00000457805.2_Frame_Shift_Del_p.M138fs|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000344035.6_Frame_Shift_Del_p.M169fs|PTP4A2_ENST00000356536.3_3'UTR|RP11-84A19.4_ENST00000602889.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATTTCCTTCTACTGAACAC 0.36159600997506236 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Y_RNA __UNKNOWN__ hg19 1 32752074 32752074 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32752074G>A ENST00000516641.1 - c.e1+21C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATGAAGCGGCGGGAATGG 0.47381546134663344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-114B7.6 __UNKNOWN__ hg19 1 33187046 33187046 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:33187046C>T ENST00000421619.1 - c.e2+3477G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCCTCATCTCTTTTTACC 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1151,59 +1151,59 @@ RP1-34M23.5 __UNKNOWN__ hg19 1 35239992 35239992 + RNA SNP T T C __UNKNOWN__ RP1-34M23.5 __UNKNOWN__ hg19 1 35246297 35246297 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35246297A>G ENST00000542839.1 - c.e1-7292T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCTGGGGCACTGCAGGCTT 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP1-34M23.5 __UNKNOWN__ hg19 1 35253376 35253376 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35253376C>T ENST00000542839.1 - c.e1-213G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGGGAATACGGTCAGCATG 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-244H3.1 __UNKNOWN__ hg19 1 35444037 35444037 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35444037T>C ENST00000417456.1 - c.e2+1034A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGGGCATATTCCTACCCTC 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ZMYM6 __UNKNOWN__ hg19 1 35497529 35497529 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35497529G>A ENST00000357182.4 - 1 ZMYM6_ENST00000373340.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACGCAACGACCGGCCAAC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +ZMYM6 __UNKNOWN__ hg19 1 35497529 35497529 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35497529G>A ENST00000357182.4 - 1 ZMYM6_ENST00000373340.2_5'UTR|ZMYM6_ENST00000317538.5_5'Flank|ZMYM6_ENST00000373333.1_5'Flank|ZMYM6_ENST00000493328.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACGCAACGACCGGCCAAC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZMYM4 __UNKNOWN__ hg19 1 35854643 35854644 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35854643delG ENST00000314607.6 + 14 2475 c.2396delG c.(2395-2397)tgtfs p.C799fs ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.C710fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTTCTGTTGTGAAGAATGC 0.29925187032418954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AGO4 __UNKNOWN__ hg19 1 36291075 36291076 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36291075delA ENST00000373210.3 + 4 712 c.468delA c.(466-468)acafs p.R157fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTATCACAAGACACCTTC 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ADPRHL2 __UNKNOWN__ hg19 1 36558985 36558985 + Nonstop_Mutation SNP T T G 183554661 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36558985T>G ENST00000373178.4 + 6 1120 c.1090T>G c.(1090-1092)Tga>Gga p.*364G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAAGAGTTGATGAGGGCT 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false ADPRHL2:54936 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000205040436000100 1 false 135 rs183554661 36558985 true -RP11-268J15.5 __UNKNOWN__ hg19 1 36789546 36789546 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36789546A>G ENST00000373137.2 + 1 EVA1B_ENST00000270824.1_5'UTR|SH3D21_ENST00000474766.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCAGATCAAATAAACGGAGT 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -MRPS15 __UNKNOWN__ hg19 1 36929988 36929988 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36929988T>C ENST00000373116.5 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCGAGGCAGTTGCAATACCG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP11-268J15.5 __UNKNOWN__ hg19 1 36789546 36789546 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RRAGC __UNKNOWN__ hg19 1 39305316 39305317 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39305316delC ENST00000373001.3 - 7 1287 c.1109delG c.(1108-1110)ggtfs p.G370fs RRAGC_ENST00000474456.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAGTCACACCCACCTCAAA 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP5-864K19.4 __UNKNOWN__ hg19 1 39350742 39350742 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39350742C>T ENST00000433671.2 + c.e2+9052C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTATATCTAACTAAGTGTATA 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MACF1 __UNKNOWN__ hg19 1 39797336 39797337 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ hg19 1 39806578 39806579 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39806578delA ENST00000372915.3 + 39 10635 c.10549delA c.(10549-10551)agtfs p.S3517fs MACF1_ENST00000567887.1_Frame_Shift_Del_p.S3549fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.S3512fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1952fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGATCTAACAGTGAAATAGA 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -RP11-69E11.4 __UNKNOWN__ hg19 1 39992808 39992808 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39992808T>C ENST00000458207.1 - c.e2-1880A>G RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCAAAATTGGCGTCACCC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PPT1 __UNKNOWN__ hg19 1 40546155 40546155 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40546155C>T ENST00000530076.1 - 2 PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGCTTGCACGAGGCTGTAG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PPT1 __UNKNOWN__ hg19 1 40546155 40546155 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40546155C>T ENST00000530076.1 - 2 PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGCTTGCACGAGGCTGTAG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -PPT1 __UNKNOWN__ hg19 1 40547950 40547950 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40547950C>T ENST00000530076.1 - 1 PPT1_ENST00000433473.3_Intron|PPT1_ENST00000449045.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGAGCCAGCTACGTCAGAG 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP11-69E11.4 __UNKNOWN__ hg19 1 39992808 39992808 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39992808T>C ENST00000458207.1 - c.e2-1880A>G RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_5'Flank|RP11-69E11.4_ENST00000441741.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCAAAATTGGCGTCACCC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PPT1 __UNKNOWN__ hg19 1 40546155 40546155 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40546155C>T ENST00000530076.1 - 2 PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M|PPT1_ENST00000372775.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGCTTGCACGAGGCTGTAG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +PPT1 __UNKNOWN__ hg19 1 40546155 40546155 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40546155C>T ENST00000530076.1 - 2 PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M|PPT1_ENST00000372775.2_5'Flank 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false false false false false false false false false false false false RP1-39G22.7 __UNKNOWN__ hg19 1 40722795 40722795 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40722795G>A ENST00000567508.1 - c.e1+696C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGGTTGAGAAATTCAAGA 0.3092269326683292 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP1-228H13.5 __UNKNOWN__ hg19 1 40930624 40930624 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40930624A>G ENST00000565390.1 + c.e1+633A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTGGCACTACCAATATTTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZFP69 __UNKNOWN__ hg19 1 40961345 40961346 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40961345delA ENST00000372706.1 + 6 2200 c.1195delA c.(1195-1197)agtfs p.S399fs 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false false false false false false false false false false false false false false false false false false false +CCDC163P __UNKNOWN__ hg19 1 45965247 45965262 + Frame_Shift_Del DEL TCCAGCTG TCCAGCTG - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45965247_45965254delTCCAGCTG ENST00000432082.1 - 1 401_408 c.28_35delCAGCTGGA c.(28-36)cagctggatfs p.Q10fs CCDC163P_ENST00000488405.2_Frame_Shift_Del_p.Q10fs|CCDC163P_ENST00000490551.3_Frame_Shift_Del_p.Q10fs|MMACHC_ENST00000401061.4_5'Flank|CCDC163P_ENST00000502793.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGAAGCACATCCAGCTGCTCAAACCAG 0.5465686274509803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MMACHC __UNKNOWN__ hg19 1 45974886 45974886 + Nonstop_Mutation SNP G G C 201025783 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45974886G>C ENST00000401061.4 + 4 1128 c.848G>C c.(847-849)tGa>tCa p.*283S MMACHC_ENST00000477188.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGCCCTTGATTTTCTCCC 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MMACHC:25974 false true false true false false false false false false false false false false false false false false false true false false 0 false 0 false 0.999244,0.000240401,0.000515145 false false false SNV 0x050000000205040416000100 1 false 137 rs201025783 45974886 true +AKR1A1 __UNKNOWN__ hg19 1 46032296 46032297 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46032296delC ENST00000372070.3 + 4 886 c.140delC c.(139-141)gctfs p.A47fs AKR1A1_ENST00000351829.4_Frame_Shift_Del_p.A47fs|AKR1A1_ENST00000471651.1_Frame_Shift_Del_p.A47fs|AKR1A1_ENST00000473038.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTGATTGTGCTGCTATCTAC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CCDC17 __UNKNOWN__ hg19 1 46086466 46086469 + Frame_Shift_Del DEL TT TT - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46086466_46086467delTT ENST00000528266.1 - 12 1788_1789 c.1638_1639delAA c.(1636-1638)gcafs p.D548fs CCDC17_ENST00000421127.2_Frame_Shift_Del_p.D539fs|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.D516fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCATCTCTTGCATTCACCA 0.5597014925373134 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CCDC17 __UNKNOWN__ hg19 1 46087134 46087135 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46087134delC ENST00000528266.1 - 10 1356 c.1207delG c.(1207-1209)gatfs p.D403fs CCDC17_ENST00000421127.2_Frame_Shift_Del_p.D394fs|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.D371fs|CCDC17_ENST00000464739.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCAGGAAATCATAGAAAATG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GPBP1L1 __UNKNOWN__ hg19 1 46120884 46120885 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46120884delA ENST00000290795.3 - 4 1391 c.168delT c.(166-168)aatfs p.N56fs GPBP1L1_ENST00000355105.3_Frame_Shift_Del_p.N56fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAGGGGACCATTGTTAAAAA 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GPBP1L1 __UNKNOWN__ hg19 1 46125880 46125880 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46125880T>C ENST00000290795.3 - 2 GPBP1L1_ENST00000355105.3_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGTGGTCCTGTTTCTGAAC 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TMEM69 __UNKNOWN__ hg19 1 46153203 46153203 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46153203G>A ENST00000372025.4 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACGGAAGGGCACTAAAATT 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM69 __UNKNOWN__ hg19 1 46153203 46153203 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46153203G>A ENST00000372025.4 + 1 GPBP1L1_ENST00000290795.3_5'Flank|GPBP1L1_ENST00000355105.3_5'Flank|TMEM69_ENST00000496366.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACGGAAGGGCACTAAAATT 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM69 __UNKNOWN__ hg19 1 46158965 46158968 + Frame_Shift_Del DEL AT AT - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46158965_46158966delAT ENST00000372025.4 + 3 1288_1289 c.132_133delAT c.(130-135)ccatgtfs p.C45fs TMEM69_ENST00000496366.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCCCCATGTCCAAGGCC 0.4129353233830846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM69 __UNKNOWN__ hg19 1 46159032 46159033 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46159032delT ENST00000372025.4 + 3 1355 c.199delT c.(199-201)tccfs p.S67fs TMEM69_ENST00000496366.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTATCATACATCCCCCTGCAG 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PIK3R3 __UNKNOWN__ hg19 1 46543211 46543212 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46543211delT ENST00000262741.5 - 3 981 c.290delA c.(289-291)cagfs p.Q97fs PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.Q61fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.Q143fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAATCTCCCTGCATTTTTGT 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PIK3R3 __UNKNOWN__ hg19 1 46598273 46598273 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46598273A>C ENST00000262741.5 - 1 PIK3R3_ENST00000420542.1_Intron|PIK3R3_ENST00000372006.1_Intron|PIK3R3_ENST00000423209.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCAACCCGACCGCACCAAC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TSPAN1 __UNKNOWN__ hg19 1 46646780 46646780 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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c.(1-3)Atg>Gtg p.M1V PIK3R3_ENST00000540385.1_5'Flank|TSPAN1_ENST00000498443.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGAGCCACCATGCAGTGCTT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NSUN4 __UNKNOWN__ hg19 1 46826474 46826475 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46826474delG ENST00000474844.1 + 5 1501 c.852delG c.(850-852)ttgfs p.L284fs NSUN4_ENST00000537428.1_Frame_Shift_Del_p.L235fs|NSUN4_ENST00000536062.1_Frame_Shift_Del_p.L235fs|NSUN4_ENST00000498008.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGATATTGCCTGTGCTGC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP5-1109J22.1 __UNKNOWN__ hg19 1 46905802 46905802 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46905802G>T ENST00000429784.2 + c.e3-536G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAAGTTGAGATTAGGTTTT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MKNK1-AS1 __UNKNOWN__ hg19 1 47005597 47005597 + RNA SNP C C T 75939162 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47005597C>T ENST00000602433.1 + c.e2-1005C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTTGGCTCCAGATTCCTG 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9918,0.008187 false false 1 false false false MKNK1-AS1:100507423 false true true true true false 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false false false false false false false false false false false false false false false false false false false false +CYP4B1 __UNKNOWN__ hg19 1 47264724 47264724 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47264724G>T ENST00000371923.4 + 1 CYP4B1_ENST00000271153.4_5'UTR|CYP4B1_ENST00000371919.4_5'Flank|CYP4B1_ENST00000546128.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCAGGTCAGATGAAGGCTA 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CYP4Z2P __UNKNOWN__ hg19 1 47309265 47309265 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47309265A>G ENST00000505841.1 - c.e12+415T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTGTAGGAAAACAAGATC 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CYP4Z2P __UNKNOWN__ hg19 1 47309265 47309265 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47309265A>G ENST00000505841.1 - c.e12+415T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTGTAGGAAAACAAGATC 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CYP4Z2P __UNKNOWN__ hg19 1 47326226 47326226 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47326226T>C ENST00000505841.1 - c.e9+767A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATGCTAGATATTGGTTCAT 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CYP4A11 __UNKNOWN__ hg19 1 47400134 47400135 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47400134delG ENST00000310638.4 - 7 921 c.888delC c.(886-888)ctcfs p.L297fs CYP4A11_ENST00000462347.1_Frame_Shift_Del_p.G246fs|CYP4A11_ENST00000371905.1_Frame_Shift_Del_p.L297fs|CYP4A11_ENST00000371904.4_Frame_Shift_Del_p.L298fs|CYP4A11_ENST00000457840.2_Frame_Shift_Del_p.G142fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTGGCCAAGAGGAGGATAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CYP4A11 __UNKNOWN__ hg19 1 47400149 47400150 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47400149delA ENST00000310638.4 - 7 906 c.873delT c.(871-873)tttfs p.L292fs CYP4A11_ENST00000462347.1_Frame_Shift_Del_p.S240fs|CYP4A11_ENST00000371905.1_Frame_Shift_Del_p.L292fs|CYP4A11_ENST00000371904.4_Frame_Shift_Del_p.L293fs|CYP4A11_ENST00000457840.2_Frame_Shift_Del_p.S136fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATATCCAGAAAATCCAAAT 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CYP4A11 __UNKNOWN__ hg19 1 47400134 47400135 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47400134delG ENST00000310638.4 - 7 921 c.888delC c.(886-888)ctcfs p.L297fs CYP4A11_ENST00000462347.1_Frame_Shift_Del_p.G246fs|CYP4A11_ENST00000371905.1_Frame_Shift_Del_p.L297fs|CYP4A11_ENST00000371904.4_Frame_Shift_Del_p.L298fs|CYP4A11_ENST00000457840.2_Frame_Shift_Del_p.G142fs|CYP4A11_ENST00000496519.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTGGCCAAGAGGAGGATAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CYP4A11 __UNKNOWN__ hg19 1 47400149 47400150 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47400149delA ENST00000310638.4 - 7 906 c.873delT c.(871-873)tttfs p.L292fs CYP4A11_ENST00000462347.1_Frame_Shift_Del_p.S240fs|CYP4A11_ENST00000371905.1_Frame_Shift_Del_p.L292fs|CYP4A11_ENST00000371904.4_Frame_Shift_Del_p.L293fs|CYP4A11_ENST00000457840.2_Frame_Shift_Del_p.S136fs|CYP4A11_ENST00000496519.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATATCCAGAAAATCCAAAT 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CYP4X1 __UNKNOWN__ hg19 1 47514284 47514285 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47514284delG ENST00000371901.3 + 10 1504 c.1255delG c.(1255-1257)gtcfs p.V419fs CYP4X1_ENST00000538609.1_Frame_Shift_Del_p.V418fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACCCTGCTGTCTGGAAAAA 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CYP4A22 __UNKNOWN__ hg19 1 47610058 47610059 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47610058delC ENST00000371891.3 + 7 850 c.820delC c.(820-822)ctafs p.L274fs CYP4A22_ENST00000371890.3_Frame_Shift_Del_p.T222fs|CYP4A22_ENST00000294337.3_Frame_Shift_Del_p.L274fs|CYP4A22-AS1_ENST00000444042.2_RNA|CYP4A22_ENST00000485117.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGCTCAACTACAGAAGGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-511I2.2 __UNKNOWN__ hg19 1 47854514 47854514 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47854514C>T ENST00000420876.1 - c.e2+2486G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGATAGTCCGGGGTAGGTG 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1227,10 +1227,10 @@ SKINTL __UNKNOWN__ hg19 1 48630438 48630438 + RNA SNP G G C 10788882 byFrequenc RP11-567C20.3 __UNKNOWN__ hg19 1 50673575 50673575 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:50673575G>A ENST00000440897.1 - c.e2+1595C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAAAGCAGGAAAGGAAAT 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-567C20.3 __UNKNOWN__ hg19 1 50679059 50679059 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:50679059G>A ENST00000440897.1 - c.e2+7079C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAATGGTGTCCCTAGGCT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TTC39A __UNKNOWN__ hg19 1 51770774 51770775 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:51770774delA ENST00000262676.5 - 8 891 c.729delT c.(727-729)tttfs p.F243fs TTC39A_ENST00000447632.2_Frame_Shift_Del_p.F247fs|TTC39A_ENST00000413473.2_Frame_Shift_Del_p.F215fs|TTC39A_ENST00000262675.7_Frame_Shift_Del_p.F184fs|TTC39A_ENST00000371750.5_Frame_Shift_Del_p.F212fs|TTC39A_ENST00000371747.3_Frame_Shift_Del_p.F246fs|TTC39A_ENST00000451380.1_Frame_Shift_Del_p.F211fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAACCCCACAAACTCCAACA 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TXNDC12 __UNKNOWN__ hg19 1 52521798 52521798 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:52521798G>T ENST00000371626.4 - 1 BTF3L4_ENST00000313334.8_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGACTGCAAGCCCCAGGATG 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TXNDC12 __UNKNOWN__ hg19 1 52521798 52521798 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:52521798G>T ENST00000371626.4 - 1 BTF3L4_ENST00000313334.8_5'UTR|BTF3L4_ENST00000472944.2_5'Flank|BTF3L4_ENST00000484036.1_5'Flank|BTF3L4_ENST00000489308.2_5'Flank|BTF3L4_ENST00000533836.1_5'Flank|TXNDC12_ENST00000610127.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGACTGCAAGCCCCAGGATG 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ORC1 __UNKNOWN__ hg19 1 52859336 52859337 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:52859336delA ENST00000371568.3 - 6 1081 c.861delT c.(859-861)tctfs p.P288fs ORC1_ENST00000371566.1_Frame_Shift_Del_p.P288fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGAGCTGGAGACAAGGTTT 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SELRC1 __UNKNOWN__ hg19 1 53158511 53158538 + Frame_Shift_Del DEL TTCCAAATAGTCCA TTCCAAATAGTCCA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53158511_53158524delTTCCAAATAGTCCA ENST00000371538.3 - 2 176_189 c.122_135delTGGACTATTTGGAA c.(121-138)gtggactatttggaagggfs p.V41fs SELRC1_ENST00000486918.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA 0.5289855072463768 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SELRC1 __UNKNOWN__ hg19 1 53163902 53163903 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53163902delC ENST00000371538.3 - 1 138 c.97delG c.(97-99)gacfs p.D33fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGTCCGGGTCCTTCTCGTGG 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SELRC1 __UNKNOWN__ hg19 1 53163902 53163903 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53163902delC ENST00000371538.3 - 1 138 c.97delG c.(97-99)gacfs p.D33fs SELRC1_ENST00000486918.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGTCCGGGTCCTTCTCGTGG 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LRP8 __UNKNOWN__ hg19 1 53741391 53741391 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53741391A>G ENST00000465675.1 - 5 LRP8_ENST00000347547.2_Intron|LRP8_ENST00000306052.6_Silent_p.C306C|LRP8_ENST00000371454.2_Silent_p.C306C|LRP8_ENST00000354412.3_Silent_p.C177C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCATCCCCACACTGGAACT 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false YIPF1 __UNKNOWN__ hg19 1 54354613 54354613 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54354613G>A ENST00000072644.1 - 3 YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.R25*|YIPF1_ENST00000469457.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCCATTCGGCCAGTGAGT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false YIPF1 __UNKNOWN__ hg19 1 54354658 54354658 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54354658T>G ENST00000072644.1 - 3 YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|YIPF1_ENST00000469457.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTGCAGGGTTCTAAAAGAA 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1256,57 +1256,57 @@ ATG4C __UNKNOWN__ hg19 1 63300483 63300484 + Frame_Shift_Del DEL A A - __UNKN ALG6 __UNKNOWN__ hg19 1 63902554 63902557 + Frame_Shift_Del DEL CC CC - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:63902554_63902555delCC ENST00000263440.4 + 14 1600_1601 c.1393_1394delCC c.(1393-1395)cctfs p.P465fs ALG6_ENST00000371108.4_Frame_Shift_Del_p.P463fs|ALG6_ENST00000494765.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTGGATCCTCCTCAGAAACTA 0.35572139303482586 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false EFCAB7 __UNKNOWN__ hg19 1 63999794 63999797 + Frame_Shift_Del DEL AA AA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:63999794_63999795delAA ENST00000371088.4 + 6 956_957 c.711_712delAA c.(709-714)gcaaccfs p.T238fs __UNKNOWN__ __UNKNOWN__ 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ENST00000370360.3 - 15 1429 c.1346_1347insC c.(1345-1347)cttfs p.L450fs GLMN_ENST00000534881.1_Frame_Shift_Ins_p.L436fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATCAAGAAGGGAAATCA 0.325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false GLMN:11146 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs763357116 92729242 false -CCDC18 __UNKNOWN__ hg19 1 93645613 93645613 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:93645613G>A ENST00000343253.7 + 1 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TMED5_ENST00000370282.3_Nonsense_Mutation_p.Q63*|TMED5_ENST00000479918.1_Nonsense_Mutation_p.Q63*|TMED5_ENST00000370280.1_Nonsense_Mutation_p.Q63*|CCDC18_ENST00000334652.5_5'Flank|CCDC18_ENST00000338949.4_5'Flank|CCDC18_ENST00000401026.3_5'Flank|CCDC18_ENST00000557479.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCACTTACTTGGTACTCGATC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DNTTIP2 __UNKNOWN__ hg19 1 94344716 94344716 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:94344716C>T ENST00000436063.2 - 1 DNTTIP2_ENST00000460191.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCGGCTCCCTCGCGACCA 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ARHGAP29 __UNKNOWN__ hg19 1 94697167 94697167 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:94697167T>C ENST00000260526.6 - 2 184 c.1A>G c.(1-3)Atg>Gtg p.M1V ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGCAATCATCCTTTCATGT 0.3541147132169576 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FRRS1 __UNKNOWN__ hg19 1 100174455 100174455 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:100174455T>C ENST00000287474.5 - 17 2482 c.1880A>G c.(1879-1881)tAg>tGg p.*627W FRRS1_ENST00000414213.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATTCCTCTACAGACATGA 0.36159600997506236 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false EXTL2 __UNKNOWN__ hg19 1 101354386 101354386 + DE_NOVO_START_IN_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:101354386T>C ENST00000370113.3 - 2 EXTL2_ENST00000370114.3_Splice_Site|EXTL2_ENST00000535414.1_Splice_Site|EXTL2_ENST00000480774.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTGTCACTATTAAGATAA 0.30423940149625933 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -EXTL2 __UNKNOWN__ hg19 1 101361178 101361178 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:101361178C>T ENST00000370114.3 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAATGGATTCCTAAGATTTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +EXTL2 __UNKNOWN__ hg19 1 101361178 101361178 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110198788T>C ENST00000369836.4 + 1 GSTM4_ENST00000326729.5_5'UTR|GSTM4_ENST00000336075.5_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCAGCCAGTGAGGATCCAG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -GSTM2 __UNKNOWN__ hg19 1 110210671 110210671 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110210671G>T ENST00000369831.2 + 1 GSTM2_ENST00000442650.1_5'UTR|GSTM2_ENST00000369827.3_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCTCTCTGGGCCTCTCACA 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TMEM167B __UNKNOWN__ hg19 1 109633256 109633256 + 5'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:109633256C>G ENST00000338272.8 + 1 TMEM167B_ENST00000473828.1_5'Flank|RP5-1065J22.8_ENST00000608574.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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110255320 110255320 + 5'UTR SNP T T C 868017653 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110255320T>C ENST00000369813.1 + 2 GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGACGGTAATGGCACCCTCG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false GSTM5:2949 false true true false false false false false false false false false false false false false false false true false false false 0 false 0 false false false false SNV 0x0500000a0005000402000100 1 false 147 rs868017653 110255320 false GSTM3 __UNKNOWN__ hg19 1 110282909 110282909 + START_CODON_SNP SNP T T C 202171165 byFrequency;by1000genomes 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0x050000081205040402000200 1 false 142 rs562835845 110300600 true -LAMTOR5 __UNKNOWN__ hg19 1 110950259 110950259 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110950259T>C ENST00000602318.1 - 1 LAMTOR5_ENST00000256644.4_Missense_Mutation_p.E77G|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCGACCACTCCGGCTCAGA 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -LAMTOR5 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LAMTOR5_ENST00000256644.4_Missense_Mutation_p.E77G|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000585330.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_5'Flank|LAMTOR5-AS1_ENST00000590826.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_5'Flank|LAMTOR5-AS1_ENST00000608067.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_5'Flank|LAMTOR5-AS1_ENST00000608486.1_5'Flank|LAMTOR5-AS1_ENST00000608499.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_5'Flank|LAMTOR5-AS1_ENST00000609653.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_5'Flank|LAMTOR5-AS1_ENST00000610148.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCGACCACTCCGGCTCAGA 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false 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LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P71L|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000585330.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_5'Flank|LAMTOR5-AS1_ENST00000590826.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_5'Flank|LAMTOR5-AS1_ENST00000608067.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_5'Flank|LAMTOR5-AS1_ENST00000608486.1_5'Flank|LAMTOR5-AS1_ENST00000608499.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_5'Flank|LAMTOR5-AS1_ENST00000609653.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_5'Flank|LAMTOR5-AS1_ENST00000610148.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAACCCAGCGGCACGGCACG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false 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__UNKNOWN__ __UNKNOWN__ g.chr1:151372047C>T ENST00000290541.6 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATTTTTTCTGCTACCGTG 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PSMB4 __UNKNOWN__ hg19 1 151372065 151372065 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151372065T>C ENST00000290541.6 + 1 56 c.2T>C c.(1-3)aTg>aCg p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGACTAAGATGGAAGCGTTT 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OAZ3 __UNKNOWN__ hg19 1 151739222 151739223 + 5'UTR DEL T T - 751011390 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739222delT ENST00000479764.1 + 1 OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTCGCCCCTCTGTCTACTC 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false OAZ3:51686 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs751011390 151739222 false OAZ3 __UNKNOWN__ hg19 1 151739333 151739333 + 5'UTR SNP C C T 188726350 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739333C>T ENST00000479764.1 + 1 OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCACTCTCCGGGAGAAGAT 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false OAZ3:51686 false true true true false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000080a05040416000100 1 false 135 rs188726350 151739333 true -OAZ3 __UNKNOWN__ hg19 1 151739679 151739679 + 5'UTR SNP C C A 201902593 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739679C>A ENST00000479764.1 + 2 OAZ3_ENST00000453029.2_Missense_Mutation_p.R38S|OAZ3_ENST00000321531.5_Missense_Mutation_p.R25S|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.R25S|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCAGCCCCGTTCCTGCCT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false OAZ3:51686 false true false false false false false false false true false true false false false false false false false true false false 0 false 0 false 0.999931,3.4343e-005,.,3.4343e-005 false false false SNV 0x050000000a05040402000104 1 false 137 rs201902593 151739679 true +OAZ3 __UNKNOWN__ hg19 1 151739679 151739679 + 5'UTR SNP C C A 201902593 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739679C>A ENST00000479764.1 + 2 OAZ3_ENST00000453029.2_Missense_Mutation_p.R38S|OAZ3_ENST00000321531.5_Missense_Mutation_p.R25S|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.R25S|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron|RP11-98D18.16_ENST00000596133.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCAGCCCCGTTCCTGCCT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false OAZ3:51686 false true false false false false false false false true false true false false false false false false false true false false 0 false 0 false 0.999931,3.4343e-005,.,3.4343e-005 false false false SNV 0x050000000a05040402000104 1 false 137 rs201902593 151739679 true FLG __UNKNOWN__ hg19 1 152275177 152275177 + Silent SNP T T C 139645876 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152275177T>C ENST00000368799.1 - 3 12221 c.12185A>G c.(12184-12186)tAa>tGa p.*4062* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTAATTTCTTACTCATAGTA 0.32169576059850374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false FLG:2312 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999966,3.4343e-005 false false false SNV 0x050000000305040402000100 1 false 134 rs139645876 152275177 true FLG2 __UNKNOWN__ hg19 1 152323087 152323087 + Nonstop_Mutation SNP C C G 150529054 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152323087C>G ENST00000388718.5 - 3 7248 c.7175G>C c.(7174-7176)tGa>tCa p.*2392S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATAACTGTCAATGTCTAGA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.997,0.002995 false false 1 false false false FLG2:388698|FLG-AS1:339400 false true true true true false false false false false false false false false false false false false false true false false 0 false 0 false 0.997321,0.00267876 false false false SNV 0x050000080205040436000100 1 false 134 rs150529054 152323087 true FLG2 __UNKNOWN__ hg19 1 152324500 152324501 + Frame_Shift_Ins INS - - C 760715355 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152324500_152324501insC ENST00000388718.5 - 3 5835 c.5761_5762insG c.(5761-5763)actfs p.T1921fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATGAGTAGTTTGGTGTCT 0.5175 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false FLG2:388698|FLG-AS1:339400 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205040402000200 1 false 144 rs760715355 152324500 true @@ -1341,29 +1341,29 @@ SPRR2G __UNKNOWN__ hg19 1 153122367 153122367 + Nonstop_Mutation SNP A A G __ LELP1 __UNKNOWN__ hg19 1 153177184 153177184 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153177184A>G ENST00000368747.1 + 2 111 c.1A>G c.(1-3)Atg>Gtg p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAAGAAACAATGTCGAGTGA 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false S100A7A __UNKNOWN__ hg19 1 153390542 153390542 + 5'UTR SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153390542G>C ENST00000368729.4 + 2 S100A7A_ENST00000329256.2_5'UTR|S100A7A_ENST00000368728.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCTGAAGGCTTTTTGAAA 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false S100A7 __UNKNOWN__ hg19 1 153431505 153431505 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153431505G>T ENST00000368723.3 - 2 S100A7_ENST00000368722.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTCAAAAAGCCTTCAGGAA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -S100A5 __UNKNOWN__ hg19 1 153514241 153514241 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153514241A>C ENST00000368718.1 - 1 S100A5_ENST00000359215.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTGTGGGACAAACACAGG 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -S100A4 __UNKNOWN__ hg19 1 153517519 153517519 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153517519G>A ENST00000368715.1 - 1 S100A4_ENST00000368716.4_Intron|S100A4_ENST00000354332.4_Intron|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000481009.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGAGATTCGGGCAGCAAAC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +S100A5 __UNKNOWN__ hg19 1 153514241 153514241 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153514241A>C ENST00000368718.1 - 1 S100A5_ENST00000359215.1_5'UTR|S100A5_ENST00000368717.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTGTGGGACAAACACAGG 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +S100A4 __UNKNOWN__ hg19 1 153517519 153517519 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153517519G>A ENST00000368715.1 - 1 S100A4_ENST00000368716.4_Intron|S100A4_ENST00000354332.4_Intron|S100A4_ENST00000368714.1_Intron|S100A5_ENST00000359215.1_5'Flank|S100A5_ENST00000368717.2_5'Flank|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000481009.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGAGATTCGGGCAGCAAAC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false S100A16 __UNKNOWN__ hg19 1 153580653 153580653 + 5'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153580653C>A ENST00000368704.1 - 2 S100A16_ENST00000368706.4_5'UTR|S100A16_ENST00000368705.2_5'UTR|S100A16_ENST00000368703.2_5'UTR|S100A16_ENST00000474991.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCGGGGCCTGGACACCA 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -S100A13 __UNKNOWN__ hg19 1 153604519 153604519 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153604519G>A ENST00000368699.1 - 2 RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCCATCCGATGTCTGTCT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +S100A13 __UNKNOWN__ hg19 1 153604519 153604519 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153604519G>A ENST00000368699.1 - 2 S100A13_ENST00000339556.4_5'Flank|S100A13_ENST00000392622.1_5'Flank|S100A13_ENST00000392623.1_5'Flank|S100A13_ENST00000440685.2_5'Flank|S100A13_ENST00000491177.1_5'Flank|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCCATCCGATGTCTGTCT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC27A3 __UNKNOWN__ hg19 1 153752478 153752478 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153752478A>G ENST00000271857.2 + 10 3196 c.2436A>G c.(2434-2436)tgA>tgG p.*812W SLC27A3_ENST00000368661.3_Nonstop_Mutation_p.*731W|SLC27A3_ENST00000484014.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCGAATCTGAGAACTTCCAC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC39A1 __UNKNOWN__ hg19 1 153935543 153935543 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153935543G>A ENST00000368623.3 - 1 SLC39A1_ENST00000368621.1_5'UTR|SLC39A1_ENST00000310483.6_Intron|SLC39A1_ENST00000356205.4_Intron|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000461071.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGGAGCTGGAGTTCCCCT 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RPS27 __UNKNOWN__ hg19 1 153963239 153963239 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153963239C>T ENST00000368567.4 + 1 RPS27_ENST00000392558.4_5'UTR|RPS27_ENST00000493224.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTCGCTCCTTTCCGGCGG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -HAX1 __UNKNOWN__ hg19 1 154245142 154245142 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:154245142T>G ENST00000328703.7 + 1 HAX1_ENST00000483970.2_5'UTR|HAX1_ENST00000457918.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCGCAGGTTTCCCCCGTCTG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -FLAD1 __UNKNOWN__ hg19 1 154956373 154956373 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:154956373A>G ENST00000315144.10 + 2 FLAD1_ENST00000368433.1_Missense_Mutation_p.D68G|FLAD1_ENST00000292180.3_Missense_Mutation_p.D68G|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000487371.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCCTGTAGACCTGGCAGGC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -GBA __UNKNOWN__ hg19 1 155214473 155214473 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:155214473A>G ENST00000428024.3 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGGGCGGGACCTGGATTGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -FCRL3 __UNKNOWN__ hg19 1 157670278 157670278 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:157670278A>T ENST00000368184.3 - 2 294 c.2T>A c.(1-3)aTg>aAg p.M1K FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAGAAGCATGGGCACCGG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +HAX1 __UNKNOWN__ hg19 1 154245142 154245142 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:154245142T>G ENST00000328703.7 + 1 HAX1_ENST00000483970.2_5'UTR|HAX1_ENST00000457918.2_5'UTR|HAX1_ENST00000532105.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCGCAGGTTTCCCCCGTCTG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +FLAD1 __UNKNOWN__ hg19 1 154956373 154956373 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:154956373A>G ENST00000315144.10 + 2 FLAD1_ENST00000368433.1_Missense_Mutation_p.D68G|FLAD1_ENST00000292180.3_Missense_Mutation_p.D68G|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000295530.2_5'Flank|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000405236.2_5'Flank|FLAD1_ENST00000487371.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCCTGTAGACCTGGCAGGC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +GBA __UNKNOWN__ hg19 1 155214473 155214473 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:155214473A>G ENST00000428024.3 - 1 GBA_ENST00000327247.5_5'Flank|GBA_ENST00000368373.3_5'Flank|GBA_ENST00000427500.3_5'Flank|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000536770.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGGGCGGGACCTGGATTGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +FCRL3 __UNKNOWN__ hg19 1 157670278 157670278 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:157670278A>T ENST00000368184.3 - 2 294 c.2T>A c.(1-3)aTg>aAg p.M1K FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K|FCRL3_ENST00000473231.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAGAAGCATGGGCACCGG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FCRL2 __UNKNOWN__ hg19 1 157716528 157716528 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:157716528A>G ENST00000361516.3 - 12 1574 c.1525T>C c.(1525-1527)Taa>Caa p.*509Q FCRL2_ENST00000368181.4_Nonstop_Mutation_p.*203Q|FCRL2_ENST00000392274.3_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCAAGTGTTATGATTTCTTC 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CD1E __UNKNOWN__ hg19 1 158323779 158323779 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158323779A>G ENST00000368167.3 + 1 240 c.1A>G c.(1-3)Atg>Gtg p.M1V CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V|CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V|CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V|CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V|CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V|CD1E_ENST00000434258.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTTCAATGCTGCTCCT 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CD1E __UNKNOWN__ hg19 1 158323779 158323779 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158323779A>G ENST00000368167.3 + 1 240 c.1A>G c.(1-3)Atg>Gtg p.M1V CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V|CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V|CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V|CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V|CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000464822.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTTCAATGCTGCTCCT 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OR10Z1 __UNKNOWN__ hg19 1 158576993 158576994 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158576993_158576994insC ENST00000361284.1 + 1 765 c.765_766insC c.(766-768)tccfs p.S256fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTGCTTCCTTCGTGT 0.4875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MNDA __UNKNOWN__ hg19 1 158815534 158815535 + Frame_Shift_Ins INS - - AC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158815534_158815535insAC ENST00000368141.4 + 5 989 c.728_729insAC c.(727-729)aagfs p.T244fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCAGTAAGACTCAATAT 0.395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AIM2 __UNKNOWN__ hg19 1 159032484 159032484 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159032484A>C ENST00000368130.4 - 6 1319 c.1030T>G c.(1030-1032)Tag>Gag p.*344E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACTTCTCTATGTTTTTTTT 0.38154613466334164 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SLAMF8 __UNKNOWN__ hg19 1 159796689 159796689 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159796689A>T ENST00000289707.5 + 1 150 c.1A>T c.(1-3)Atg>Ttg p.M1L SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAGAAAGATGGTCATGAG 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SLAMF8 __UNKNOWN__ hg19 1 159796689 159796689 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159796689A>T ENST00000289707.5 + 1 150 c.1A>T c.(1-3)Atg>Ttg p.M1L SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L|SLAMF8_ENST00000471286.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAGAAAGATGGTCATGAG 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LY9 __UNKNOWN__ hg19 1 160797604 160797604 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:160797604T>G ENST00000263285.6 + 10 1996 c.1966T>G c.(1966-1968)Tga>Gga p.*656G LY9_ENST00000368037.5_Nonstop_Mutation_p.*642G|LY9_ENST00000392203.4_Nonstop_Mutation_p.*566G|LY9_ENST00000368040.1_Nonstop_Mutation_p.*271G|LY9_ENST00000368041.2_Nonstop_Mutation_p.*527G|LY9_ENST00000341032.4_Nonstop_Mutation_p.*522G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATTTCACCTGAAAGGAAAA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -FCRLA __UNKNOWN__ hg19 1 161677004 161677004 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161677004A>T ENST00000236938.6 + 1 243 c.1A>T c.(1-3)Atg>Ttg p.M1L FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L|FCRLA_ENST00000540926.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGAGGTTTCATGTTGAAGAA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +FCRLA __UNKNOWN__ hg19 1 161677004 161677004 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161677004A>T ENST00000236938.6 + 1 243 c.1A>T c.(1-3)Atg>Ttg p.M1L FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000294796.4_5'Flank|FCRLA_ENST00000309691.6_5'Flank|FCRLA_ENST00000349527.4_5'Flank|FCRLA_ENST00000367950.1_5'Flank|FCRLA_ENST00000367953.3_5'Flank|FCRLA_ENST00000470841.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGAGGTTTCATGTTGAAGAA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FCRLB __UNKNOWN__ hg19 1 161697451 161697451 + Nonstop_Mutation SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161697451G>C ENST00000367948.2 + 8 1495 c.1280G>C c.(1279-1281)tGa>tCa p.*427S FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000392158.1_Nonstop_Mutation_p.*427S|FCRLB_ENST00000495397.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAGAGCTGAGGGGGCGGC 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MGST3 __UNKNOWN__ hg19 1 165619079 165619079 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:165619079C>T ENST00000367889.3 + 2 MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME|MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME|MGST3_ENST00000367883.1_Splice_Site_p.R13C|MGST3_ENST00000367885.1_Splice_Site_p.R13C|MGST3_ENST00000367886.2_Splice_Site_p.R13C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCACAGACGCAAGATGGC 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ALDH9A1 __UNKNOWN__ hg19 1 165667795 165667795 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:165667795T>G ENST00000354775.4 - 1 306 c.1A>C c.(1-3)Atg>Ctg p.M1L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGAGAAACATGAGTGGCGGA 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -FMO2 __UNKNOWN__ hg19 1 171154418 171154418 + DE_NOVO_START_OUT_FRAME SNP C C T 28369797 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171154418C>T ENST00000209929.7 + 1 FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTAAAAACGCTTCCAACT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9882,.,0.01178 false false 1 false true false FMO2:2327 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.993028,.,0.00697163 true false true SNV 0x050110400005150537000100 1 false 125 rs28369797 171154418 true +ALDH9A1 __UNKNOWN__ hg19 1 165667795 165667795 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:165667795T>G ENST00000354775.4 - 1 306 c.1A>C c.(1-3)Atg>Ctg p.M1L ALDH9A1_ENST00000461664.1_5'Flank|ALDH9A1_ENST00000538148.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGAGAAACATGAGTGGCGGA 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +FMO2 __UNKNOWN__ hg19 1 171154418 171154418 + DE_NOVO_START_OUT_FRAME SNP C C T 28369797 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171154418C>T ENST00000209929.7 + 1 FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|FMO2_ENST00000529935.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTAAAAACGCTTCCAACT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9882,.,0.01178 false false 1 false true false FMO2:2327 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.993028,.,0.00697163 true false true SNV 0x050110400005150537000100 1 false 125 rs28369797 171154418 true FMO2 __UNKNOWN__ hg19 1 171178090 171178090 + Nonstop_Mutation SNP T T C 6661174 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171178090T>C ENST00000209929.7 + 9 1572 c.1414T>C c.(1414-1416)Tag>Cag p.*472Q FMO2_ENST00000441535.1_Nonstop_Mutation_p.*472Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACTCCTATTAGTATCGCCT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9537,0.04633 false false 1 false true false FMO2:2327 true true false true true false false false false false false false true false false true true false false true false false 0 true 0 false false true false SNV 0x05012880060515053f000100 1 false 116 rs6661174 171178090 true FMO2 __UNKNOWN__ hg19 1 171178090 171178090 + Nonstop_Mutation SNP T T C 6661174 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171178090T>C ENST00000209929.7 + 9 1572 c.1414T>C c.(1414-1416)Tag>Cag p.*472Q FMO2_ENST00000441535.1_Nonstop_Mutation_p.*472Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACTCCTATTAGTATCGCCT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9537,0.04633 false false 1 false true false FMO2:2327 true true false true true false false false false false false false true false false true true false false true false false 0 true 0 false false true false SNV 0x05012880060515053f000100 1 false 116 rs6661174 171178090 true TNN __UNKNOWN__ hg19 1 175046557 175046557 + START_CODON_SNP SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:175046557G>T ENST00000239462.4 + 2 116 c.3G>T c.(1-3)atG>atT p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCAAGGATGAGTCTCCAGG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1373,8 +1373,8 @@ RNASEL __UNKNOWN__ hg19 1 182555939 182555939 + START_CODON_SNP SNP C C T __U CFH __UNKNOWN__ hg19 1 196670459 196670459 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:196670459T>C ENST00000359637.2 + 9 1218 c.1156T>C c.(1156-1158)Tga>Cga p.*386R CFH_ENST00000367429.4_Intron|CFH_ENST00000439155.2_Nonstop_Mutation_p.*450R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTACCCTCTGAACTTCTGA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ASPM __UNKNOWN__ hg19 1 197057491 197057492 + Frame_Shift_Ins INS - - CC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:197057491_197057492insCC ENST00000367409.4 - 26 10313 c.10055_10056insGG c.(10054-10056)atafs p.I3352fs ASPM_ENST00000367408.1_Frame_Shift_Ins_p.I1017fs|ASPM_ENST00000294732.7_Frame_Shift_Ins_p.I1767fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTCGGTATATCTGCAAAA 0.3175 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CR1 __UNKNOWN__ hg19 1 207700162 207700163 + Frame_Shift_Ins INS - - AGAT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:207700162_207700163insAGAT ENST00000367049.4 + 6 951 c.951_952insAGAT c.(952-954)cctfs p.P318fs CR1_ENST00000367052.1_Frame_Shift_Ins_p.P318fs|CR1_ENST00000367053.1_Frame_Shift_Ins_p.P318fs|CR1_ENST00000400960.2_Frame_Shift_Ins_p.P318fs|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACTTTTCACCTGGGCAGG 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -G0S2 __UNKNOWN__ hg19 1 209849340 209849340 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209849340A>G ENST00000367029.4 + 2 473 c.311A>G c.(310-312)tAg>tGg p.*104W RP1-28O10.1_ENST00000441672.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGCCTCCTAGGAACTGTGG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TRAF3IP3 __UNKNOWN__ hg19 1 209932121 209932121 + DE_NOVO_START_OUT_FRAME SNP C C T 10489341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209932121C>T ENST00000367024.1 + 1 TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATTTCCAACGCTCAGGATC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8838,0.1162 false false 1 false true false TRAF3IP3:80342 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.849876,0.150124 false false true SNV 0x05012848000515053f000100 1 false 119 rs10489341 209932121 true +G0S2 __UNKNOWN__ hg19 1 209849340 209849340 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209849340A>G ENST00000367029.4 + 2 473 c.311A>G c.(310-312)tAg>tGg p.*104W RP1-28O10.1_ENST00000441672.1_RNA|RP1-28O10.1_ENST00000445272.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGCCTCCTAGGAACTGTGG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TRAF3IP3 __UNKNOWN__ hg19 1 209932121 209932121 + DE_NOVO_START_OUT_FRAME SNP C C T 10489341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209932121C>T ENST00000367024.1 + 1 TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000010338.4_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATTTCCAACGCTCAGGATC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8838,0.1162 false false 1 false true false TRAF3IP3:80342 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.849876,0.150124 false false true SNV 0x05012848000515053f000100 1 false 119 rs10489341 209932121 true SPATA17 __UNKNOWN__ hg19 1 217804722 217804722 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:217804722T>C ENST00000366933.4 + 1 57 c.2T>C c.(1-3)aTg>aCg p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAGACCATGGCCACGTTA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DNAH14 __UNKNOWN__ hg19 1 225586971 225586971 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:225586971A>T ENST00000445597.2 + 61 10524 c.10524A>T c.(10522-10524)taA>taT p.*3508Y DNAH14_ENST00000439375.2_Nonstop_Mutation_p.*4516Y|DNAH14_ENST00000430092.1_Nonstop_Mutation_p.*4516Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGAAAAATAAATGTCCATAT 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MRPL55 __UNKNOWN__ hg19 1 228295961 228295961 + START_CODON_SNP SNP T T G 140581823 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:228295961T>G ENST00000411464.2 - 3 795 c.1A>C c.(1-3)Atg>Ctg p.M1L MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L|MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000465397.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGCCGCCATTCCTCCTTAC 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MRPL55:128308 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 134 rs140581823 228295961 true @@ -1390,9 +1390,9 @@ OR2M3 __UNKNOWN__ hg19 1 248366370 248366370 + START_CODON_SNP SNP A A G __UN OR2M3 __UNKNOWN__ hg19 1 248367306 248367306 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:248367306T>A ENST00000456743.1 + 1 975 c.937T>A c.(937-939)Tga>Aga p.*313R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTGGAGAGTGAGTTACCTA 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OR2T35 __UNKNOWN__ hg19 1 248801588 248801588 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:248801588C>T ENST00000317450.3 - 1 972 c.972G>A c.(970-972)taG>taA p.*324* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGTCCCTGCTAGCCCTTCC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AKR1C3 __UNKNOWN__ hg19 10 5144336 5144337 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:5144336_5144337insA ENST00000380554.3 + 6 1266 c.614_615insA c.(613-615)ttcfs p.F205fs AKR1C3_ENST00000605149.1_Frame_Shift_Ins_p.F182fs|AKR1C3_ENST00000439082.2_Frame_Shift_Ins_p.F86fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTAGATTTCTGCAAGTCG 0.34 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -AKR1CL1 __UNKNOWN__ hg19 10 5204954 5204955 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:5204954_5204955insA ENST00000334314.3 - 2 200 c.122_123insT c.(121-123)accfs p.K42fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCACTTTGGTGGCCTCGG 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +AKR1CL1 __UNKNOWN__ hg19 10 5204954 5204955 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:5204954_5204955insA ENST00000334314.3 - 2 200 c.122_123insT c.(121-123)accfs p.K42fs AKR1CL1_ENST00000465430.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCACTTTGGTGGCCTCGG 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CDNF __UNKNOWN__ hg19 10 14867578 14867578 + DE_NOVO_START_IN_FRAME SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:14867578G>C ENST00000378442.1 - 5 CDNF_ENST00000378441.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCACTTAGGATCTTTGTGG 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CREM __UNKNOWN__ hg19 10 35426755 35426755 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:35426755A>G ENST00000345491.3 + 2 CREM_ENST00000374721.3_DE_NOVO_START_OUT_FRAME|CREM_ENST00000354759.3_DE_NOVO_START_OUT_FRAME|CREM_ENST00000429130.3_DE_NOVO_START_OUT_FRAME|CREM_ENST00000460270.1_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000469949.2_Intron|CREM_ENST00000395895.2_DE_NOVO_START_OUT_FRAME|CREM_ENST00000333809.8_DE_NOVO_START_OUT_FRAME|CREM_ENST00000439705.1_DE_NOVO_START_OUT_FRAME|CREM_ENST00000374728.3_Intron|CREM_ENST00000489388.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTACAAATATCTTAACAAT 0.26683291770573564 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CREM __UNKNOWN__ hg19 10 35426755 35426755 + DE_NOVO_START_OUT_FRAME SNP A A G 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false false false false false false false false false @@ -1409,18 +1409,18 @@ OR52N2 __UNKNOWN__ hg19 11 5842447 5842448 + Frame_Shift_Ins INS - - C __UNKN FAM111B __UNKNOWN__ hg19 11 58891938 58891939 + Frame_Shift_Ins INS - - CT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:58891938_58891939insCT ENST00000343597.3 + 4 559 c.368_369insCT c.(367-369)aatfs p.Q124fs FAM111B_ENST00000529618.1_Frame_Shift_Ins_p.Q94fs|FAM111B_ENST00000411426.1_Frame_Shift_Ins_p.Q94fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATAAAGAATCAGTTTAAT 0.3475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OR5AN1 __UNKNOWN__ hg19 11 59132518 59132519 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:59132518_59132519insG ENST00000313940.2 + 1 634 c.587_588insG c.(586-588)gtafs p.Q197fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTCTTTGTACAGGTCATG 0.435 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC22A25 __UNKNOWN__ hg19 11 62931299 62931300 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:62931299_62931300insC ENST00000306494.6 - 9 1641 c.1640_1641insG c.(1639-1641)ctafs p.*548fs SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGACCTATAGCACAGAGC 0.51 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -STIP1 __UNKNOWN__ hg19 11 63953121 63953121 + DE_NOVO_START_IN_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ 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false false false false false false false false false false false false false false false false false false false -TMPRSS5 __UNKNOWN__ hg19 11 113565234 113565234 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:113565234G>A ENST00000536856.1 - 6 TMPRSS5_ENST00000299882.5_Missense_Mutation_p.R251C|TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.R242C|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.R207C|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACCCAGCGTGGCGCTAGC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TMPRSS5 __UNKNOWN__ hg19 11 113565260 113565260 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:113565260G>A ENST00000536856.1 - 6 TMPRSS5_ENST00000299882.5_Missense_Mutation_p.T242M|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.T233M|TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.T198M|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCCACACGTGTGCCGGAA 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false 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false false false false false false false false false false false false false false false false false false false C12orf10 __UNKNOWN__ hg19 12 53699726 53699727 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:53699726_53699727insA ENST00000549488.1 + 2 205 c.35_36insA c.(34-36)gtgfs p.D13fs C12orf10_ENST00000267103.5_Frame_Shift_Ins_p.D176fs|C12orf10_ENST00000548632.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGATGCTGTGGACAATGGG 0.515 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -HOXC8 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g.chr12:55248357G>T ENST00000308796.6 + 1 MUCL1_ENST00000546809.1_Intron|MUCL1_ENST00000547990.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGATCTTCAGGTCACCACCA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MDM1 __UNKNOWN__ hg19 12 68719304 68719304 + DE_NOVO_START_OUT_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:68719304T>C ENST00000540418.1 - 3 MDM1_ENST00000411698.2_Intron|MDM1_ENST00000303145.7_Missense_Mutation_p.N184D|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCAAGGCATTATATGAAGGA 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false UHRF1BP1L __UNKNOWN__ hg19 12 100452662 100452663 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:100452662_100452663insA ENST00000279907.7 - 14 2606 c.2392_2393insT c.(2392-2394)cctfs p.P798fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P448fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACGAGGAAGGGGAAAATCT 0.4025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1429,7 +1429,7 @@ PRKAB1 __UNKNOWN__ hg19 12 120111850 120111850 + DE_NOVO_START_OUT_FRAME SNP C ZCCHC8 __UNKNOWN__ hg19 12 122977328 122977328 + DE_NOVO_START_OUT_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:122977328A>C ENST00000543897.1 - 2 ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.L84W 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ZNF10_ENST00000426665.2_Frame_Shift_Ins_p.F23fs|CTD-2140B24.4_ENST00000540096.2_Frame_Shift_Ins_p.F23fs|ZNF10_ENST00000402932.2_Frame_Shift_Ins_p.F23fs|ZNF268_ENST00000416488.1_Frame_Shift_Ins_p.F23fs|ZNF10_ENST00000540927.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTGGACTTCACCAGGGAG 0.44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZNF268 __UNKNOWN__ hg19 12 133780295 133780296 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:133780295_133780296insC ENST00000536435.2 + 6 2353 c.2023_2024insC c.(2023-2025)aaafs p.K675fs ZNF268_ENST00000228289.5_Frame_Shift_Ins_p.K675fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Ins_p.K514fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATGTGCAAAAACCTTTAG 0.4025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SAP18 __UNKNOWN__ hg19 13 21714654 21714654 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr13:21714654A>G ENST00000382533.4 + 1 __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SMAD9 __UNKNOWN__ hg19 13 37427618 37427619 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr13:37427618_37427619insT ENST00000350148.5 - 5 1396 c.1086_1087insA c.(1087-1089)cacfs p.H363fs SMAD9_ENST00000399275.2_Frame_Shift_Ins_p.H400fs|SMAD9_ENST00000379826.4_Frame_Shift_Ins_p.H400fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAGCCGTGGTGAACTGAC 0.475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LMO7 __UNKNOWN__ hg19 13 76335079 76335079 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr13:76335079C>T ENST00000321797.8 + 2 LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME|LMO7_ENST00000341547.4_Silent_p.N126N|LMO7_ENST00000526202.1_Silent_p.N35N|LMO7_ENST00000357063.3_Silent_p.N126N|LMO7_ENST00000377534.3_Silent_p.N126N|RP11-29G8.3_ENST00000563635.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAATATAAACGTTTTCTTGA 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DTD2 __UNKNOWN__ hg19 14 31917379 31917380 + Frame_Shift_Ins INS - - GG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr14:31917379_31917380insGG ENST00000310850.4 - 3 580 c.462_463insCC c.(463-465)aagfs p.K155fs RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Frame_Shift_Ins_p.K155fs|CTD-2213F21.2_ENST00000502430.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCAGCTTTAACACCTGC 0.365 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1444,29 +1444,29 @@ TSPAN3 __UNKNOWN__ hg19 15 77348407 77348407 + DE_NOVO_START_IN_FRAME SNP G G A CDH5 __UNKNOWN__ hg19 16 66432463 66432463 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr16:66432463C>T ENST00000539168.1 + 4 CDH5_ENST00000341529.3_Splice_Site_p.H530H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGATAATCACGGTAGGCATC 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC52A1 __UNKNOWN__ hg19 17 4955266 4955266 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:4955266G>A ENST00000512825.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAGGCACCGTGGCTCAGGC 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ALOXE3 __UNKNOWN__ hg19 17 8021612 8021612 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:8021612C>A ENST00000448843.2 - 2 ALOXE3_ENST00000380149.1_Missense_Mutation_p.Q55H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q31H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATCAGGAGCCTGGGTTCCAC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SLFN13 __UNKNOWN__ hg19 17 33772713 33772713 + DE_NOVO_START_IN_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:33772713C>A ENST00000533791.1 - 1 SLFN13_ENST00000285013.6_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACTTGCACCTTAAAGTATT 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ACBD4 __UNKNOWN__ hg19 17 43212963 43212963 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:43212963G>T ENST00000431281.1 + 2 ACBD4_ENST00000591859.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTGAGGTAGGTAAGCCGAA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ACBD4 __UNKNOWN__ hg19 17 43212963 43212963 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:43212963G>T ENST00000431281.1 + 2 ACBD4_ENST00000591859.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTGAGGTAGGTAAGCCGAA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -KPNB1 __UNKNOWN__ hg19 17 45730168 45730168 + DE_NOVO_START_OUT_FRAME SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:45730168C>G ENST00000540627.1 + 2 KPNB1_ENST00000290158.4_Missense_Mutation_p.P70A|KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME|KPNB1_ENST00000577918.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTAAAGATCCAGATATCAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SLFN13 __UNKNOWN__ hg19 17 33772713 33772713 + DE_NOVO_START_IN_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:33772713C>A ENST00000533791.1 - 1 SLFN13_ENST00000285013.6_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site|SLFN13_ENST00000360502.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACTTGCACCTTAAAGTATT 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +ACBD4 __UNKNOWN__ hg19 17 43212963 43212963 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:43212963G>T ENST00000431281.1 + 2 ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTGAGGTAGGTAAGCCGAA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +ACBD4 __UNKNOWN__ hg19 17 43212963 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DE_NOVO_START_OUT_FRAME SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:45730168C>G ENST00000540627.1 + 2 KPNB1_ENST00000290158.4_Missense_Mutation_p.P70A|KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME|KPNB1_ENST00000537679.1_5'Flank|KPNB1_ENST00000577918.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTAAAGATCCAGATATCAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GGA3 __UNKNOWN__ hg19 17 73242591 73242591 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr18:72914161T>C ENST00000537114.2 - 2 ZADH2_ENST00000322342.3_Missense_Mutation_p.Y115C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAACTGTGTATCTGGCACT 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZADH2 __UNKNOWN__ hg19 18 72914280 72914280 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ 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false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GDF1 __UNKNOWN__ hg19 19 18994994 18994994 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:18994994G>A ENST00000247005.6 - 3 CERS1_ENST00000429504.2_Silent_p.Y164Y|CERS1_ENST00000542296.2_Silent_p.Y66Y|CERS1_ENST00000427170.2_Silent_p.Y164Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAGCGTAGCGTAGATGGAGT 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZNF780B __UNKNOWN__ hg19 19 40542375 40542375 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:40542375G>A ENST00000221355.6 - 6 ZNF780B_ENST00000434248.1_Nonsense_Mutation_p.R131* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCCTGTCGTCCCTCAAAT 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -BCKDHA __UNKNOWN__ hg19 19 41903671 41903671 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:41903671A>G ENST00000269980.2 + 1 CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGGCACATAAAGAGGCAGC 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +BCKDHA __UNKNOWN__ hg19 19 41903671 41903671 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:41903671A>G ENST00000269980.2 + 1 CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGGCACATAAAGAGGCAGC 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ALLC __UNKNOWN__ hg19 2 3718692 3718692 + DE_NOVO_START_IN_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:3718692C>T ENST00000252505.3 + 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGAAGCACGGCTGATGCT 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -DNAJC27 __UNKNOWN__ hg19 2 25194771 25194771 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:25194771C>T ENST00000264711.2 - 1 193 c.3G>A c.(1-3)atG>atA p.M1I DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTGGCCTCCATGGCCCTGG 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DNAJC27 __UNKNOWN__ hg19 2 25194771 25194771 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:25194771C>T ENST00000264711.2 - 1 193 c.3G>A c.(1-3)atG>atA p.M1I DNAJC27_ENST00000468467.1_5'Flank|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421842.1_5'Flank|DNAJC27-AS1_ENST00000422449.1_5'Flank|DNAJC27-AS1_ENST00000428614.1_5'Flank|DNAJC27-AS1_ENST00000434897.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTGGCCTCCATGGCCCTGG 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DRC1 __UNKNOWN__ hg19 2 26679385 26679385 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:26679385A>C ENST00000288710.2 + 17 2297 c.2223A>C c.(2221-2223)tgA>tgC p.*741C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAAAATGAGCTGGACCGC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GPN1 __UNKNOWN__ hg19 2 27870801 27870802 + Frame_Shift_Ins INS - - GC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:27870801_27870802insGC ENST00000610189.1 + 13 1037 c.1030_1031insGC c.(1030-1032)gacfs p.D344fs GPN1_ENST00000264718.3_Frame_Shift_Ins_p.D358fs|GPN1_ENST00000424214.1_Frame_Shift_Ins_p.D265fs|GPN1_ENST00000515877.1_Frame_Shift_Ins_p.D265fs|GPN1_ENST00000458167.2_Frame_Shift_Ins_p.D249fs|GPN1_ENST00000407583.3_Frame_Shift_Ins_p.D332fs|GPN1_ENST00000503738.1_Frame_Shift_Ins_p.D249fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGACATTGACCACAGAGG 0.4575 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TRMT61B __UNKNOWN__ hg19 2 29093143 29093143 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:29093143T>C ENST00000306108.5 - 1 25 c.1A>G c.(1-3)Atg>Gtg p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCATTAGCATAGTGTTTCGC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TSPYL6 __UNKNOWN__ hg19 2 54483287 54483287 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54483287A>G ENST00000317802.7 - 1 123 c.2T>C c.(1-3)aTg>aCg p.M1T ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGAGGCTCATGTTGGTAGC 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TSPYL6 __UNKNOWN__ hg19 2 54483288 54483288 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54483288T>C ENST00000317802.7 - 1 122 c.1A>G c.(1-3)Atg>Gtg p.M1V ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGGCTCATGTTGGTAGCG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -C2orf73 __UNKNOWN__ hg19 2 54558114 54558114 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54558114T>C ENST00000398634.2 + 1 44 c.2T>C c.(1-3)aTg>aCg p.M1T C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGAGGCCCATGGAGGAAAAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C2orf73 __UNKNOWN__ hg19 2 54558114 54558114 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54558114T>C ENST00000398634.2 + 1 44 c.2T>C c.(1-3)aTg>aCg p.M1T C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T|C2orf73_ENST00000491538.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGAGGCCCATGGAGGAAAAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ATP6V1B1 __UNKNOWN__ hg19 2 71163086 71163086 + START_CODON_SNP SNP T T C 11681642 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:71163086T>C ENST00000234396.4 + 1 75 c.2T>C c.(1-3)aTg>aCg p.M1T ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACTGCTCCATGGCCATGGAG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6312,0.3688 false false 1 false true true ATP6V1B1:525 true true false true true false false false false false false true false false false true true false false true false false 0 true 0 false false false false SNV 0x050128000a05170537000100 1 false 120 rs11681642 71163086 true CCDC142 __UNKNOWN__ hg19 2 74709963 74709963 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:74709963A>G ENST00000290418.4 - 1 161 c.2T>C c.(1-3)aTg>aCg p.M1T CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T|CCDC142_ENST00000471713.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCCTGGGCCATGGGGCGGCG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DNAH6 __UNKNOWN__ hg19 2 84777170 84777171 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:84777170_84777171insT ENST00000237449.6 + 8 1482 c.1474_1475insT c.(1474-1476)cctfs p.P492fs DNAH6_ENST00000389394.3_Frame_Shift_Ins_p.P492fs|DNAH6_ENST00000398278.2_Frame_Shift_Ins_p.P492fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGAAGTCCCTGATAAAAA 0.36 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CAPG __UNKNOWN__ hg19 2 85629266 85629266 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:85629266C>T ENST00000409921.1 - 2 70 c.3G>A c.(1-3)atG>atA p.M1I CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I|CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I|CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTGTACATGCTGTCTT 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CAPG __UNKNOWN__ hg19 2 85629266 85629266 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:85629266C>T ENST00000409921.1 - 2 70 c.3G>A c.(1-3)atG>atA p.M1I CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I|CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I|CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I|CAPG_ENST00000483659.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTGTACATGCTGTCTT 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RNF103 __UNKNOWN__ hg19 2 86849962 86849963 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:86849962_86849963insC ENST00000237455.4 - 1 1017 c.47_48insG c.(46-48)ttcfs p.F16fs RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCAGGACGAACAGGACCA 0.6125 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false STARD7 __UNKNOWN__ hg19 2 96859067 96859068 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:96859067_96859068insC ENST00000337288.5 - 4 957 c.572_573insG c.(571-573)aaafs p.W192fs STARD7_ENST00000462501.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCATCCCATTTTTTTCTAT 0.4125 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NMS __UNKNOWN__ hg19 2 101086951 101086951 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:101086951A>G ENST00000376865.1 + 1 8 c.1A>G c.(1-3)Atg>Gtg p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACTCTCACAATGAAACATCT 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1480,8 +1480,8 @@ LYPD6 __UNKNOWN__ hg19 2 150294223 150294223 + START_CODON_SNP SNP A A G __UN NEB __UNKNOWN__ hg19 2 152511831 152511832 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:152511831_152511832insC ENST00000604864.1 - 49 6760 c.6759_6760insG c.(6760-6762)acafs p.T2254fs NEB_ENST00000603639.1_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.T2254fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATCTGGTGTATCAGGCATC 0.295 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false XIRP2 __UNKNOWN__ hg19 2 167759994 167759994 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:167759994T>C ENST00000409728.1 + 2 91 c.2T>C c.(1-3)aTg>aCg p.M1T XIRP2_ENST00000409043.1_START_CODON_SNP_p.M1T|XIRP2_ENST00000409195.1_START_CODON_SNP_p.M1T|XIRP2_ENST00000420519.1_START_CODON_SNP_p.M1T|XIRP2_ENST00000409756.2_START_CODON_SNP_p.M1T|XIRP2_ENST00000295237.9_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCATCCATGTTCCCAATG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SPC25 __UNKNOWN__ hg19 2 169727989 169727990 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169727989_169727990insT ENST00000282074.2 - 7 769 c.626_627insA c.(625-627)gctfs p.L211fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAAGAAAAGCTGAAAAAT 0.31 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -DHRS9 __UNKNOWN__ hg19 2 169923213 169923213 + DE_NOVO_START_OUT_FRAME SNP C C T 16856426 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169923213C>T ENST00000602501.1 + 2 DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTTTCAACGCAGGACCTC 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9796,.,0.02037 false false 1 false true false DHRS9:10170 false true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.997733,.,0.00226664 false false true SNV 0x050100420005150436000100 1 false 123 rs16856426 169923213 true -DHRS9 __UNKNOWN__ hg19 2 169926086 169926086 + DE_NOVO_START_OUT_FRAME SNP C C T 11889286 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169926086C>T ENST00000357546.2 + 2 DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000327239.4_Intron|DHRS9_ENST00000602501.1_Intron|DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000432060.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTCTACGGAAACCCAG 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9786,0.02137 false false 1 false true false DHRS9:10170 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.971118,0.0288825 false false true SNV 0x05010048000515053f000100 1 false 120 rs11889286 169926086 true +DHRS9 __UNKNOWN__ hg19 2 169923213 169923213 + DE_NOVO_START_OUT_FRAME SNP C C T 16856426 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169923213C>T ENST00000602501.1 + 2 DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME|DHRS9_ENST00000357546.2_5'Flank|DHRS9_ENST00000421653.1_5'Flank|DHRS9_ENST00000428522.1_5'Flank|DHRS9_ENST00000432060.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTTTCAACGCAGGACCTC 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9796,.,0.02037 false false 1 false true false DHRS9:10170 false true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.997733,.,0.00226664 false false true SNV 0x050100420005150436000100 1 false 123 rs16856426 169923213 true +DHRS9 __UNKNOWN__ hg19 2 169926086 169926086 + DE_NOVO_START_OUT_FRAME SNP C C T 11889286 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169926086C>T ENST00000357546.2 + 2 DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000327239.4_Intron|DHRS9_ENST00000602501.1_Intron|DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000432060.2_Intron|DHRS9_ENST00000436483.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTCTACGGAAACCCAG 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9786,0.02137 false false 1 false true false DHRS9:10170 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.971118,0.0288825 false false true SNV 0x05010048000515053f000100 1 false 120 rs11889286 169926086 true CHRNA1 __UNKNOWN__ hg19 2 175614897 175614898 + Splice_Site INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:175614897_175614898insT ENST00000409219.1 - 7 797 c.778_779insA c.(778-780)gggfs p.G260fs CHRNA1_ENST00000348749.5_Splice_Site_p.G260fs|CHRNA1_ENST00000261007.5_Splice_Site_p.G285fs|CHRNA1_ENST00000409542.1_Splice_Site_p.G178fs|AC018890.6_ENST00000442996.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTTCTCCCCTGAAAAGAC 0.4625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CHRNA1 __UNKNOWN__ hg19 2 175629122 175629122 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:175629122T>C ENST00000409219.1 - 1 19 c.1A>G c.(1-3)Atg>Gtg p.M1V CHRNA1_ENST00000348749.5_START_CODON_SNP_p.M1V|CHRNA1_ENST00000261007.5_START_CODON_SNP_p.M1V|CHRNA1_ENST00000409323.1_START_CODON_SNP_p.M1V|CHRNA1_ENST00000409542.1_START_CODON_SNP_p.M1V|AC018890.6_ENST00000442996.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGGCTCCATGGGCTACCGG 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TTC30B __UNKNOWN__ hg19 2 178415667 178415668 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:178415667_178415668insC ENST00000408939.3 - 1 2076 c.1824_1825insG c.(1825-1827)attfs p.I609fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCTTGAATAACACTATCA 0.365 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1489,11 +1489,11 @@ ITGAV __UNKNOWN__ hg19 2 187487140 187487141 + In_Frame_Ins INS - - CCT 7627701 ZSWIM2 __UNKNOWN__ hg19 2 187692863 187692864 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:187692863_187692864insA ENST00000295131.2 - 9 1790 c.1749_1750insT c.(1750-1752)agcfs p.S584fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGCTGTGCTCCAATTGACA 0.345 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false HIBCH __UNKNOWN__ hg19 2 191184475 191184475 + START_CODON_SNP SNP A A G 291466 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:191184475A>G ENST00000359678.5 - 1 297 c.2T>C c.(1-3)aTg>aCg p.M1T HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGCTGCCCCATCGCCAAACA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5683,0.4317 false false 1 false true true HIBCH:26275 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.490041,0.509959 false false false SNV 0x050100000a0517053f000101 1 false 79 rs291466 191184475 true HECW2 __UNKNOWN__ hg19 2 197208381 197208381 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:197208381G>A ENST00000409111.1 - 2 HECW2_ENST00000260983.3_Splice_Site_p.P134S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTACTTACGTTCCATGAAA 0.3117206982543641 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CASP8 __UNKNOWN__ hg19 2 202122956 202122956 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:202122956T>C ENST00000358485.4 + 1 198 c.2T>C c.(1-3)aTg>aCg p.M1T CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264274.9_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGAGGCCATGGAGGGAGGC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CASP8 __UNKNOWN__ hg19 2 202122956 202122956 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:202122956T>C ENST00000358485.4 + 1 198 c.2T>C c.(1-3)aTg>aCg p.M1T CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGAGGCCATGGAGGGAGGC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PTH2R __UNKNOWN__ hg19 2 209358383 209358383 + Nonstop_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:209358383G>T ENST00000272847.2 + 13 1865 c.1652G>T c.(1651-1653)tGa>tTa p.*551L AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGTTCTCTGAATGGACATT 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PECR __UNKNOWN__ hg19 2 216946463 216946463 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:216946463A>G ENST00000265322.7 - 1 77 c.2T>C c.(1-3)aTg>aCg p.M1T PECR_ENST00000497889.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGAGGCCATCCCTGCAGC 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CXCR1 __UNKNOWN__ hg19 2 219029932 219029932 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:219029932C>T ENST00000295683.2 - 2 124 c.3G>A c.(1-3)atG>atA p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATATTTGACATGTCCTCTT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -STK11IP __UNKNOWN__ hg19 2 220462640 220462640 + DE_NOVO_START_IN_FRAME SNP G G T 681747 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:220462640G>T ENST00000456909.1 + 1 STK11IP_ENST00000295641.10_Missense_Mutation_p.R1M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGACGGGGAGGTTCGGTATG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1667,0.8333 false false 1 false true false STK11IP:114790 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.236589,0.763411 false false true SNV 0x05010040000515053f000101 1 false 83 rs681747 220462640 true +STK11IP __UNKNOWN__ hg19 2 220462640 220462640 + DE_NOVO_START_IN_FRAME SNP G G T 681747 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:220462640G>T ENST00000456909.1 + 1 STK11IP_ENST00000295641.10_Missense_Mutation_p.R1M|STK11IP_ENST00000459692.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGACGGGGAGGTTCGGTATG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1667,0.8333 false false 1 false true false STK11IP:114790 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.236589,0.763411 false false true SNV 0x05010040000515053f000101 1 false 83 rs681747 220462640 true FAM124B __UNKNOWN__ hg19 2 225265759 225265760 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:225265759_225265760insT ENST00000409685.3 - 1 993 c.726_727insA c.(727-729)cttfs p.L243fs FAM124B_ENST00000389874.3_Frame_Shift_Ins_p.L243fs|FAM124B_ENST00000243806.2_Frame_Shift_Ins_p.L243fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATACCTGAAGCAGAATCTTG 0.4975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LRRFIP1 __UNKNOWN__ hg19 2 238667455 238667456 + In_Frame_Ins INS - - TAA 752147133 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:238667455_238667456insTAA ENST00000308482.9 + 18 1377 c.1308_1309insTAA c.(1309-1311)gaa>TAAgaa p.436_437ins* LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGAAAGAGGAATTAAAGG 0.3775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false LRRFIP1:9208 false true true false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000080005000402000200 1 false 144 rs752147133 238667455 false CLDN14 __UNKNOWN__ hg19 21 37948710 37948710 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr21:37948710G>A ENST00000342108.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACTCACCGTGCTGCTGTG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1502,15 +1502,15 @@ RGL4 __UNKNOWN__ hg19 22 24034867 24034867 + DE_NOVO_START_OUT_FRAME SNP C C T PES1 __UNKNOWN__ hg19 22 30983274 30983274 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr22:30983274G>A ENST00000405677.1 - 6 PES1_ENST00000354694.7_Splice_Site_p.R123W|PES1_ENST00000335214.6_Splice_Site_p.R123W|PES1_ENST00000402281.1_DE_NOVO_START_OUT_FRAME|PES1_ENST00000402284.3_Splice_Site_p.R123W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGGCTCACCGTTCCTTGATG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false JAGN1 __UNKNOWN__ hg19 3 9932407 9932407 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:9932407A>G ENST00000307768.4 + 1 170 c.1A>G c.(1-3)Atg>Gtg p.M1V JAGN1_ENST00000489724.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAGGCACAATGGCGTCTCG 0.7032418952618454 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VGLL4 __UNKNOWN__ hg19 3 11643465 11643465 + DE_NOVO_START_IN_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:11643465T>C ENST00000413604.1 - 2 VGLL4_ENST00000430365.2_Missense_Mutation_p.I38M|VGLL4_ENST00000273038.3_Missense_Mutation_p.I32M|VGLL4_ENST00000404339.1_Missense_Mutation_p.I37M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGGTCTGTATTCTGGGTT 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -HACL1 __UNKNOWN__ hg19 3 15643175 15643175 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:15643175G>A ENST00000321169.5 - 1 BTD_ENST00000449107.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACACGCGCGTTCTCCAATC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +HACL1 __UNKNOWN__ hg19 3 15643175 15643175 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:15643175G>A ENST00000321169.5 - 1 BTD_ENST00000449107.1_5'UTR|BTD_ENST00000303498.5_5'Flank|BTD_ENST00000383778.4_5'Flank|HACL1_ENST00000435217.2_5'Flank|BTD_ENST00000437172.1_5'Flank|HACL1_ENST00000451445.2_5'Flank|HACL1_ENST00000456194.2_5'Flank|HACL1_ENST00000457447.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACACGCGCGTTCTCCAATC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PLCL2 __UNKNOWN__ hg19 3 17131402 17131402 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:17131402T>G ENST00000418129.2 + 6 3469 c.3004T>G c.(3004-3006)Tga>Gga p.*1002G PLCL2_ENST00000432376.1_Nonstop_Mutation_p.*1002G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTGGAGAATGAGGAAACTT 0.38154613466334164 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OXSM __UNKNOWN__ hg19 3 25835983 25835983 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:25835983T>C ENST00000280701.3 + 3 1477 c.1378T>C c.(1378-1380)Tag>Cag p.*460Q OXSM_ENST00000420173.2_Nonstop_Mutation_p.*377Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGGACTGTAGAACATATA 0.3491271820448878 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLC4A7 __UNKNOWN__ hg19 3 27418257 27418257 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:27418257A>G ENST00000435667.2 - 25 3627 c.3406T>C c.(3406-3408)Tag>Cag p.*1136Q SLC4A7_ENST00000455077.1_Nonstop_Mutation_p.*1132Q|SLC4A7_ENST00000295736.5_Nonstop_Mutation_p.*1215Q|SLC4A7_ENST00000428386.1_Nonstop_Mutation_p.*1091Q|SLC4A7_ENST00000454389.1_Nonstop_Mutation_p.*1260Q|SLC4A7_ENST00000440156.1_Nonstop_Mutation_p.*1247Q|SLC4A7_ENST00000445684.1_Nonstop_Mutation_p.*1211Q|SLC4A7_ENST00000446700.1_Nonstop_Mutation_p.*1207Q|SLC4A7_ENST00000437179.1_Nonstop_Mutation_p.*1096Q|SLC4A7_ENST00000388777.4_Nonstop_Mutation_p.*801Q|SLC4A7_ENST00000425128.2_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTCAATTCTATAATGAAGTT 0.29925187032418954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DCLK3 __UNKNOWN__ hg19 3 36756821 36756821 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:36756821A>C ENST00000416516.2 - 5 2436 c.1945T>G c.(1945-1947)Tag>Gag p.*649E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGACTATGATACCTGC 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false C3orf35 __UNKNOWN__ hg19 3 37458758 37458758 + START_CODON_SNP SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:37458758A>C ENST00000328376.5 + 5 980 c.1A>C c.(1-3)Atg>Ctg p.M1L C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L|C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L|C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L|C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L|C3orf35_ENST00000481400.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAATCCACATGAAAACAAT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -CCRL2 __UNKNOWN__ hg19 3 46450604 46450604 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:46450604A>C ENST00000399036.3 + 2 1386 c.1034A>C c.(1033-1035)tAa>tCa p.*345S CCRL2_ENST00000400882.2_Nonstop_Mutation_p.*345S|CCRL2_ENST00000400880.3_Nonstop_Mutation_p.*345S|CCRL2_ENST00000357392.4_Nonstop_Mutation_p.*357S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGAAGTGTAAACTAGCATC 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +CCRL2 __UNKNOWN__ hg19 3 46450604 46450604 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:46450604A>C ENST00000399036.3 + 2 1386 c.1034A>C c.(1033-1035)tAa>tCa p.*345S CCRL2_ENST00000400882.2_Nonstop_Mutation_p.*345S|CCRL2_ENST00000400880.3_Nonstop_Mutation_p.*345S|CCRL2_ENST00000357392.4_Nonstop_Mutation_p.*357S|CCRL2_ENST00000441909.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGAAGTGTAAACTAGCATC 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SPINK8 __UNKNOWN__ hg19 3 48369830 48369830 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:48369830A>G ENST00000434006.1 - 1 2 c.2T>C c.(1-3)aTg>aCg p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCCCCTTCATGGTGACAGA 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TREX1 __UNKNOWN__ hg19 3 48506471 48506471 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:48506471C>T ENST00000296443.9 + 1 ATRIP_ENST00000320211.3_Missense_Mutation_p.T766M|ATRIP_ENST00000412052.1_Missense_Mutation_p.T673M|ATRIP_ENST00000346691.4_Missense_Mutation_p.T739M|ATRIP_ENST00000357105.6_Missense_Mutation_p.T639M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGATGTGACGGACTGTGAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TREX1 __UNKNOWN__ hg19 3 48506471 48506471 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:48506471C>T ENST00000296443.9 + 1 ATRIP_ENST00000320211.3_Missense_Mutation_p.T766M|ATRIP_ENST00000412052.1_Missense_Mutation_p.T673M|ATRIP_ENST00000346691.4_Missense_Mutation_p.T739M|ATRIP_ENST00000357105.6_Missense_Mutation_p.T639M|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000492235.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGATGTGACGGACTGTGAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DALRD3 __UNKNOWN__ hg19 3 49053682 49053683 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:49053682_49053683insT ENST00000440857.1 - 10 1440 c.736_737insA c.(736-738)ctcfs p.L246fs DALRD3_ENST00000341949.4_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000313778.5_Frame_Shift_Ins_p.L246fs|DALRD3_ENST00000441576.2_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000395462.4_Frame_Shift_Ins_p.L246fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTCAAAGAGTGTGGCAAG 0.5525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false IQCF1 __UNKNOWN__ hg19 3 51928908 51928908 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:51928908A>G ENST00000310914.5 - 4 679 c.616T>C c.(616-618)Tga>Cga p.*206R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGACCACTTCATTCCTTTATT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ASB14 __UNKNOWN__ hg19 3 57310755 57310756 + Splice_Site INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:57310755_57310756insA ENST00000487349.1 - 10 1708 c.1586_1587insT c.(1585-1587)acafs p.N530fs ASB14_ENST00000389601.3_Splice_Site_p.N530fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGAGGGTTTGCTAAAAAGA 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1525,7 +1525,7 @@ B4GALT4 __UNKNOWN__ hg19 3 118955888 118955888 + DE_NOVO_START_OUT_FRAME SNP G GPR156 __UNKNOWN__ hg19 3 119912256 119912257 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:119912256_119912257insT ENST00000464295.1 - 4 695 c.248_249insA c.(247-249)tccfs p.S84fs GPR156_ENST00000461057.1_Frame_Shift_Ins_p.S84fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.S84fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTGGGACTGGACATCTTCA 0.425 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RABL3 __UNKNOWN__ hg19 3 120408670 120408670 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:120408670T>C ENST00000273375.3 - 8 741 c.711A>G c.(709-711)tgA>tgG p.*237W RABL3_ENST00000483733.1_Nonstop_Mutation_p.*213W|RABL3_ENST00000491398.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGTGTAATTCAGTCATAAT 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false WDR5B __UNKNOWN__ hg19 3 122133383 122133383 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:122133383T>C ENST00000330689.4 - 1 1500 c.993A>G c.(991-993)taA>taG p.*331* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCAAAGGGATTAGTGGTTAC 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -KPNA1 __UNKNOWN__ hg19 3 122180151 122180152 + Frame_Shift_Ins INS - - GGGA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:122180151_122180152insGGGA ENST00000344337.6 - 5 529 c.351_352insTCCC c.(352-354)attfs p.I118fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCATCAATAGGAGGGTTA 0.3275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +KPNA1 __UNKNOWN__ hg19 3 122180151 122180152 + Frame_Shift_Ins INS - - GGGA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:122180151_122180152insGGGA ENST00000344337.6 - 5 529 c.351_352insTCCC c.(352-354)attfs p.I118fs KPNA1_ENST00000466923.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCATCAATAGGAGGGTTA 0.3275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false COL6A6 __UNKNOWN__ hg19 3 130394240 130394240 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:130394240A>T ENST00000358511.6 + 36 6822 c.6791A>T c.(6790-6792)tAa>tTa p.*2264L COL6A6_ENST00000453409.2_Nonstop_Mutation_p.*2264L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACATGATTAAAAAAATGCT 0.371571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NUDT16 __UNKNOWN__ hg19 3 131102185 131102185 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:131102185G>A ENST00000521288.1 + 3 619 c.588G>A c.(586-588)taG>taA p.*196* NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_Silent_p.*163*|NUDT16_ENST00000537561.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCATCACTAGAGGCAGCCCT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ACPP __UNKNOWN__ hg19 3 132075720 132075720 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:132075720T>C ENST00000475741.1 + 9 1111 c.1060T>C c.(1060-1062)Tag>Cag p.*354Q ACPP_ENST00000351273.7_Intron|ACPP_ENST00000336375.5_Nonstop_Mutation_p.*387Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTACAGATTAGTGTGCACA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1544,7 +1544,7 @@ RARRES1 __UNKNOWN__ hg19 3 158428700 158428701 + Frame_Shift_Ins INS - - T __ SPATA16 __UNKNOWN__ hg19 3 172607362 172607362 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:172607362A>G ENST00000351008.3 - 11 1892 c.1708T>C c.(1708-1710)Tag>Cag p.*570Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAATGACTACCTTTGCTGA 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MCF2L2 __UNKNOWN__ hg19 3 183014766 183014767 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:183014766_183014767insC ENST00000328913.3 - 12 1793 c.1494_1495insG c.(1495-1497)aagfs p.K499fs MCF2L2_ENST00000473233.1_Frame_Shift_Ins_p.K499fs|MCF2L2_ENST00000414362.2_Frame_Shift_Ins_p.K499fs|MCF2L2_ENST00000447025.2_Frame_Shift_Ins_p.K499fs|B3GNT5_ENST00000462559.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATTACCTTTGCATCGAGG 0.5275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false KLHL6 __UNKNOWN__ hg19 3 183273440 183273440 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:183273440A>T ENST00000341319.3 - 1 38 c.2T>A c.(1-3)aTg>aAg p.M1K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCATCAACATCGAGACTGA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SLC51A __UNKNOWN__ hg19 3 195960068 195960068 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:195960068T>C ENST00000296327.5 + 9 1230 c.1021T>C c.(1021-1023)Taa>Caa p.*341Q PCYT1A_ENST00000419333.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAAAGCCTAAGGTGGATG 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +SLC51A __UNKNOWN__ hg19 3 195960068 195960068 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:195960068T>C ENST00000296327.5 + 9 1230 c.1021T>C c.(1021-1023)Taa>Caa p.*341Q PCYT1A_ENST00000419333.1_Intron|SLC51A_ENST00000479732.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAAAGCCTAAGGTGGATG 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false BDH1 __UNKNOWN__ hg19 3 197260393 197260394 + DE_NOVO_START_OUT_FRAME DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:197260393delA ENST00000441275.1 - 3 BDH1_ENST00000392378.2_Frame_Shift_Del_p.I41fs|BDH1_ENST00000358186.2_Frame_Shift_Del_p.I41fs|BDH1_ENST00000392379.1_Frame_Shift_Del_p.I41fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGACGGCCAATCGGGATAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FAM193A __UNKNOWN__ hg19 4 2632732 2632732 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:2632732A>G ENST00000502458.1 + 3 322 c.1A>G c.(1-3)Atg>Gtg p.M1V FAM193A_ENST00000324666.5_START_CODON_SNP_p.M1V|FAM193A_ENST00000382839.3_START_CODON_SNP_p.M1V|FAM193A_ENST00000505311.1_START_CODON_SNP_p.M1V|FAM193A_ENST00000545951.1_START_CODON_SNP_p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGCTGGAGATGAAGGTCCG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SH3BP2 __UNKNOWN__ hg19 4 2835561 2835561 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:2835561A>G ENST00000356331.5 + 13 1947 c.1686A>G c.(1684-1686)tgA>tgG p.*562W SH3BP2_ENST00000511747.1_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000435136.2_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000452765.2_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000442312.2_Nonstop_Mutation_p.*590W|SH3BP2_ENST00000503393.2_Nonstop_Mutation_p.*619W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCTAGGTGATGGCAGTCCA 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1559,7 +1559,7 @@ TMPRSS11B __UNKNOWN__ hg19 4 69093631 69093631 + Nonstop_Mutation SNP A A C _ UGT2A1 __UNKNOWN__ hg19 4 70513361 70513361 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:70513361A>G ENST00000503640.1 - 1 58 c.2T>C c.(1-3)aTg>aCg p.M1T UGT2A1_ENST00000514019.1_START_CODON_SNP_p.M1T|UGT2A1_ENST00000512704.1_START_CODON_SNP_p.M1T|UGT2A1_ENST00000286604.4_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTGTTTAACATGATGTGGCT 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CABS1 __UNKNOWN__ hg19 4 71201943 71201943 + Silent SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:71201943A>G ENST00000273936.5 + 1 1261 c.1187A>G c.(1186-1188)tAa>tGa p.*396* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATGATTTAAAAGCAACAA 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PROL1 __UNKNOWN__ hg19 4 71275790 71275790 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:71275790T>C ENST00000399575.2 + 3 919 c.745T>C c.(745-747)Tga>Cga p.*249R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTTTTGGTTGAACATGCAA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ALB __UNKNOWN__ hg19 4 74270123 74270123 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:74270123C>T ENST00000503124.1 + 1 ALB_ENST00000295897.4_Splice_Site_p.H27Y|ALB_ENST00000509063.1_Splice_Site_p.H27Y|ALB_ENST00000401494.3_Splice_Site_p.H27Y|ALB_ENST00000415165.2_Splice_Site_p.H27Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGAGATGCACGTAAGAAATC 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +ALB __UNKNOWN__ hg19 4 74270123 74270123 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:74270123C>T ENST00000503124.1 + 1 ALB_ENST00000295897.4_Splice_Site_p.H27Y|ALB_ENST00000509063.1_Splice_Site_p.H27Y|ALB_ENST00000401494.3_Splice_Site_p.H27Y|ALB_ENST00000415165.2_Splice_Site_p.H27Y|ALB_ENST00000505649.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGAGATGCACGTAAGAAATC 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CXCL10 __UNKNOWN__ hg19 4 76943085 76943085 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:76943085A>G ENST00000306602.1 - 4 361 c.295T>C c.(295-297)Taa>Caa p.*99Q ART3_ENST00000341029.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTGGTTTTAAGGAGATCTT 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false CXCL11 __UNKNOWN__ hg19 4 76955947 76955947 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:76955947T>A ENST00000503860.1 - 5 663 c.284A>T c.(283-285)tAa>tTa p.*95L CXCL11_ENST00000306621.3_Nonstop_Mutation_p.*95L|ART3_ENST00000341029.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGATATTTTTAAAAATTCTT 0.34663341645885287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false C4orf36 __UNKNOWN__ hg19 4 87812672 87812672 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:87812672A>G ENST00000473559.1 - 5 666 c.2T>C c.(1-3)aTg>aCg p.M1T C4orf36_ENST00000295898.3_START_CODON_SNP_p.M1T|C4orf36_ENST00000503001.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATACGCCATGGTGAGTTA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1574,7 +1574,7 @@ C4orf33 __UNKNOWN__ hg19 4 130032945 130032945 + Nonstop_Mutation SNP A A G _ FREM3 __UNKNOWN__ hg19 4 144618679 144618680 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:144618679_144618680insC ENST00000329798.5 - 1 3150 c.3149_3150insG c.(3148-3150)aatfs p.N1050fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTATGCTATTCCCCACTA 0.4775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRSS48 __UNKNOWN__ hg19 4 152212603 152212603 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:152212603T>G ENST00000455694.2 + 5 987 c.985T>G c.(985-987)Taa>Gaa p.*329E PRSS48_ENST00000441586.2_Nonstop_Mutation_p.*186E|SH3D19_ENST00000604030.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGGGCAGATAACTCACAGG 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DCHS2 __UNKNOWN__ hg19 4 155407595 155407595 + Nonstop_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:155407595C>A ENST00000456341.2 - 2 2109 c.2109G>T c.(2107-2109)taG>taT p.*703Y DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000443500.1_Nonstop_Mutation_p.*710Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGGAAATCTAGGCAAGAT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -MAP9 __UNKNOWN__ hg19 4 156274490 156274491 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:156274490_156274491insC ENST00000311277.4 - 11 1647 c.1382_1383insG c.(1381-1383)aaafs p.A463fs MAP9_ENST00000515654.1_Frame_Shift_Ins_p.A439fs|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAGCTTTTTTCTACAGTG 0.2825 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MAP9 __UNKNOWN__ hg19 4 156274490 156274491 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:156274490_156274491insC ENST00000311277.4 - 11 1647 c.1382_1383insG c.(1381-1383)aaafs p.A463fs MAP9_ENST00000515654.1_Frame_Shift_Ins_p.A439fs|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000417474.1_5'Flank|AC097467.2_ENST00000594492.1_5'Flank|AC097467.2_ENST00000594666.1_5'Flank|AC097467.2_ENST00000596165.1_5'Flank|AC097467.2_ENST00000596754.1_5'Flank|AC097467.2_ENST00000597831.1_5'Flank|AC097467.2_ENST00000598890.1_5'Flank|AC097467.2_ENST00000600928.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAGCTTTTTTCTACAGTG 0.2825 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DDX60L __UNKNOWN__ hg19 4 169279300 169279300 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:169279300A>G ENST00000511577.1 - 38 5367 c.5119T>C c.(5119-5121)Taa>Caa p.*1707Q DDX60L_ENST00000260184.7_Nonstop_Mutation_p.*1707Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATGGTGTTATTCTAAATGA 0.2892768079800499 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TRAPPC11 __UNKNOWN__ hg19 4 184633795 184633795 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:184633795T>C ENST00000334690.6 + 30 3602 c.3400T>C c.(3400-3402)Tga>Cga p.*1134R TRAPPC11_ENST00000512476.1_Nonstop_Mutation_p.*740R|TRAPPC11_ENST00000357207.4_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGCTGCATGATGTTCAAG 0.3316708229426434 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MLF1IP __UNKNOWN__ hg19 4 185655214 185655214 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:185655214C>T ENST00000281453.5 - 1 74 c.3G>A c.(1-3)atG>atA p.M1I MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGCGGGGCCATGGTGCCGC 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1584,7 +1584,7 @@ NADK2 __UNKNOWN__ hg19 5 36227619 36227619 + DE_NOVO_START_OUT_FRAME SNP T T C CCL28 __UNKNOWN__ hg19 5 43388500 43388500 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:43388500A>T ENST00000513525.1 - 2 309 c.2T>A c.(1-3)aTg>aAg p.M1K CCL28_ENST00000361115.4_Missense_Mutation_p.M48K|CCL28_ENST00000537013.1_Missense_Mutation_p.M48K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGCGACACATATTCACTCT 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NNT __UNKNOWN__ hg19 5 43656769 43656770 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:43656769_43656770insT ENST00000264663.5 + 16 2529 c.2308_2309insT c.(2308-2310)gccfs p.A770fs NNT_ENST00000344920.4_Frame_Shift_Ins_p.A770fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.A639fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAAATCTGCCCCTCTCCT 0.415 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MRPS30 __UNKNOWN__ hg19 5 44809066 44809066 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:44809066T>C ENST00000507110.1 + 1 40 c.2T>C c.(1-3)aTg>aCg p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGCAAAGATGGCGGCGGCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -GZMK __UNKNOWN__ hg19 5 54329753 54329756 + Nonstop_Mutation DEL AA AA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:54329753_54329754delAA ENST00000231009.2 + 5 863_864 c.794_795delAA c.(793-795)taafs p.*265fs CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATACAAATTAAGTTACAAATA 0.39800995024875624 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +GZMK __UNKNOWN__ hg19 5 54329753 54329756 + Nonstop_Mutation DEL AA AA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:54329753_54329754delAA ENST00000231009.2 + 5 863_864 c.794_795delAA c.(793-795)taafs p.*265fs CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_5'Flank|CTD-2313F11.1_ENST00000609792.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATACAAATTAAGTTACAAATA 0.39800995024875624 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AGGF1 __UNKNOWN__ hg19 5 76342200 76342201 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:76342200_76342201insA ENST00000312916.7 + 6 1281 c.899_900insA c.(898-900)ttcfs p.F300fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAAGCCTTCAGTGTTGAA 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FAM81B __UNKNOWN__ hg19 5 94785984 94785984 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:94785984T>C ENST00000283357.5 + 10 1403 c.1357T>C c.(1357-1359)Taa>Caa p.*453Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGAAGTATAAACCTTTTC 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SLCO4C1 __UNKNOWN__ hg19 5 101572564 101572564 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:101572564A>G ENST00000310954.6 - 13 2460 c.2173T>C c.(2173-2175)Tga>Cga p.*725R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCCATTTCACCCTTCTTTT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1592,18 +1592,18 @@ SLCO4C1 __UNKNOWN__ hg19 5 101631965 101631965 + START_CODON_SNP SNP A A G __ ATG12 __UNKNOWN__ hg19 5 115167503 115167503 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:115167503A>T ENST00000509910.1 - 4 727 c.421T>A c.(421-423)Tga>Aga p.*141R ATG12_ENST00000500945.2_3'UTR|ATG12_ENST00000274459.4_Nonstop_Mutation_p.*188R|ATG12_ENST00000509598.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTGTGGTTCATCCCCACGCC 0.34413965087281795 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false HSD17B4 __UNKNOWN__ hg19 5 118860923 118860924 + Frame_Shift_Ins INS - - AA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:118860923_118860924insAA ENST00000515320.1 + 17 1541 c.1462_1463insAA c.(1462-1464)cgcfs p.R488fs HSD17B4_ENST00000509514.1_Frame_Shift_Ins_p.R244fs|HSD17B4_ENST00000256216.6_Frame_Shift_Ins_p.R506fs|HSD17B4_ENST00000504811.1_Frame_Shift_Ins_p.R531fs|HSD17B4_ENST00000510025.1_Frame_Shift_Ins_p.R482fs|HSD17B4_ENST00000414835.2_Frame_Shift_Ins_p.R366fs|HSD17B4_ENST00000513628.1_Frame_Shift_Ins_p.R369fs|HSD17B4_ENST00000522415.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTGTACCGCCTCAGTGG 0.2975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SRFBP1 __UNKNOWN__ hg19 5 121297728 121297728 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:121297728A>G ENST00000339397.4 + 1 73 c.1A>G c.(1-3)Atg>Gtg p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATCTACCATGGCTCAGCC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -LEAP2 __UNKNOWN__ hg19 5 132208861 132208861 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:132208861C>T ENST00000296877.2 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAAGTGGACGATCTGGGGA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +LEAP2 __UNKNOWN__ hg19 5 132208861 132208861 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:132208861C>T ENST00000296877.2 + 1 LEAP2_ENST00000485457.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAAGTGGACGATCTGGGGA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SMAD5 __UNKNOWN__ hg19 5 135513085 135513086 + Splice_Site INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:135513085_135513086insC ENST00000545279.1 + 8 1674 c.1314_1315insC c.(1315-1317)cttfs p.L439fs SMAD5_ENST00000545620.1_Splice_Site_p.L439fs|SMAD5_ENST00000514641.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTGAGATTATCTTCATGG 0.36 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NME5 __UNKNOWN__ hg19 5 137451371 137451371 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:137451371T>A ENST00000265191.2 - 6 688 c.638A>T c.(637-639)tAa>tTa p.*213L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTTTTTTTTAATAAGGTTC 0.26433915211970077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -LRRTM2 __UNKNOWN__ hg19 5 138210895 138210895 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:138210895C>A ENST00000518785.1 - 1 LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000523537.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCAGTCTCCTTTCCGCAGC 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +LRRTM2 __UNKNOWN__ hg19 5 138210895 138210895 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:138210895C>A ENST00000518785.1 - 1 LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000523537.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCAGTCTCCTTTCCGCAGC 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false IGIP __UNKNOWN__ hg19 5 139508064 139508064 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:139508064G>A ENST00000333305.3 + 1 2544 c.3G>A c.(1-3)atG>atA p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTAAATATGTGCAGTTATT 0.35910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PCDHA7 __UNKNOWN__ hg19 5 140213970 140213970 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140213970T>G ENST00000525929.1 + 1 2 c.2T>G c.(1-3)aTg>aGg p.M1R PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Splice_Site_p.M1R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATTTGAAATGGTGTGCCCG 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PCDHA12 __UNKNOWN__ hg19 5 140255770 140255771 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140255770_140255771insC ENST00000398631.2 + 1 713 c.713_714insC c.(712-714)aatfs p.G239fs PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAATGACAATGGTCCGGCG 0.3675 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PCDHB4 __UNKNOWN__ hg19 5 140503900 140503901 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140503900_140503901insG ENST00000194152.1 + 1 2320 c.2320_2321insG c.(2320-2322)ttgfs p.L774fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAATCTCTTGGTTCAGGA 0.4975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PCDHB6 __UNKNOWN__ hg19 5 140529841 140529841 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140529841G>A ENST00000231136.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I PCDHB6_ENST00000543635.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATAGACATGATGCAAACTA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PCDHB13 __UNKNOWN__ hg19 5 140596092 140596092 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140596092A>G ENST00000341948.4 + 1 2584 c.2397A>G c.(2395-2397)tgA>tgG p.*799W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATATTCAGTGACCATAGTTGA 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -NR3C1 __UNKNOWN__ hg19 5 142814699 142814699 + DE_NOVO_START_IN_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:142814699A>C ENST00000343796.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACTAAATGAATGCGTGCAT 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -NR3C1 __UNKNOWN__ hg19 5 142815041 142815041 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:142815041C>A ENST00000343796.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGAGGTACCTTTTGAATGG 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +NR3C1 __UNKNOWN__ hg19 5 142814699 142814699 + DE_NOVO_START_IN_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:142814699A>C ENST00000343796.2 - 1 NR3C1_ENST00000504572.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACTAAATGAATGCGTGCAT 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +NR3C1 __UNKNOWN__ hg19 5 142815041 142815041 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:142815041C>A ENST00000343796.2 - 1 NR3C1_ENST00000504572.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGAGGTACCTTTTGAATGG 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SPINK13 __UNKNOWN__ hg19 5 147665609 147665609 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:147665609T>C ENST00000512953.1 + 6 814 c.283T>C c.(283-285)Taa>Caa p.*95Q SPINK13_ENST00000511106.1_Nonstop_Mutation_p.*55Q|SPINK13_ENST00000398450.4_Nonstop_Mutation_p.*95Q|RP11-373N22.3_ENST00000501695.3_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAATGTGATTAATGGGTACC 0.2892768079800499 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false FAM114A2 __UNKNOWN__ hg19 5 153409127 153409128 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:153409127_153409128insA ENST00000351797.4 - 5 494 c.416_417insT c.(415-417)gccfs p.K140fs FAM114A2_ENST00000522858.1_Frame_Shift_Ins_p.K140fs|FAM114A2_ENST00000520667.1_Frame_Shift_Ins_p.K140fs|FAM114A2_ENST00000520313.1_Frame_Shift_Ins_p.K70fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCTCTTTGGCATTTGTCT 0.3875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false LCP2 __UNKNOWN__ hg19 5 169675703 169675703 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:169675703A>G ENST00000046794.5 - 21 2216 c.1600T>C c.(1600-1602)Tag>Cag p.*534Q LCP2_ENST00000521416.1_Nonstop_Mutation_p.*329Q|C5orf58_ENST00000517575.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAACTTGCTATGGGTACCCT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -1621,17 +1621,17 @@ HIST1H2BG __UNKNOWN__ hg19 6 26216869 26216869 + START_CODON_SNP SNP C C A __ HIST1H2AH __UNKNOWN__ hg19 6 27114910 27114910 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:27114910G>A ENST00000377459.1 + 1 50 c.3G>A c.(1-3)atG>atA p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACCAGTATGTCTGGACGTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZNF165 __UNKNOWN__ hg19 6 28056967 28056968 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:28056967_28056968insC ENST00000377325.1 + 4 1733 c.1177_1178insC c.(1177-1179)attfs p.I393fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCGGCGAATTCACACTGG 0.435 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false HLA-G __UNKNOWN__ hg19 6 29795623 29795623 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:29795623T>C ENST00000360323.6 + 1 26 c.2T>C c.(1-3)aTg>aCg p.M1T HLA-G_ENST00000376828.2_Missense_Mutation_p.M6T|HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T|HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T|HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGCCAAGGATGGTGGTCATG 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TRIM31 __UNKNOWN__ hg19 6 30080582 30080582 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:30080582T>C ENST00000376734.3 - 2 127 c.1A>G c.(1-3)Atg>Gtg p.M1V TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V|TRIM31-AS1_ENST00000440874.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTGGCCATGACAGAACAA 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TRIM31 __UNKNOWN__ hg19 6 30080582 30080582 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:30080582T>C ENST00000376734.3 - 2 127 c.1A>G c.(1-3)Atg>Gtg p.M1V TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTGGCCATGACAGAACAA 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NEU1 __UNKNOWN__ hg19 6 31828246 31828247 + Frame_Shift_Ins INS - - CT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:31828246_31828247insCT ENST00000375631.4 - 4 898 c.767_768insAG c.(766-768)cagfs p.E257fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCATTTTCCTGCTTGGGCT 0.5925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false HLA-DQB2 __UNKNOWN__ hg19 6 32731258 32731258 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:32731258G>A ENST00000437316.2 - 1 HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME|HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCAAGACGTAAGTGAGAC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false HLA-DQB2 __UNKNOWN__ hg19 6 32731258 32731258 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:32731258G>A ENST00000437316.2 - 1 HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME|HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCAAGACGTAAGTGAGAC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -HSD17B8 __UNKNOWN__ hg19 6 33172446 33172446 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:33172446A>G ENST00000374662.3 + 1 28 c.1A>G c.(1-3)Atg>Gtg p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGCCCGCCATGGCGTCTCA 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +HSD17B8 __UNKNOWN__ hg19 6 33172446 33172446 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:33172446A>G ENST00000374662.3 + 1 28 c.1A>G c.(1-3)Atg>Gtg p.M1V HSD17B8_ENST00000469186.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGCCCGCCATGGCGTCTCA 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false KIF6 __UNKNOWN__ hg19 6 39554075 39554076 + Frame_Shift_Ins INS - - GC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:39554075_39554076insGC ENST00000287152.7 - 8 1047 c.951_952insGC c.(952-954)atgfs p.M318fs KIF6_ENST00000373215.3_Frame_Shift_Ins_p.M318fs|KIF6_ENST00000373216.3_Frame_Shift_Ins_p.M318fs|KIF6_ENST00000373213.4_Frame_Shift_Ins_p.M157fs|KIF6_ENST00000538893.1_Frame_Shift_Ins_p.M318fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCAATCATAGTTGTCATG 0.425 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 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c.(1-3)atG>atA p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGACGCTCCATGTCGGGTC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RHAG __UNKNOWN__ hg19 6 49604523 49604523 + START_CODON_SNP SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:49604523C>A ENST00000371175.4 - 1 30 c.3G>T c.(1-3)atG>atT p.M1I RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTGAACCTCATGTTTGTGG 0.41895261845386533 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false false false false false false false false false false false false false false false false false false false false +EFHC1 __UNKNOWN__ hg19 6 52285209 52285209 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:52285209A>G ENST00000371068.5 + 1 104 c.1A>G c.(1-3)Atg>Gtg p.M1V EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_5'Flank|EFHC1_ENST00000491749.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGGCTGCAATGGTGTCCAA 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false IMPG1 __UNKNOWN__ hg19 6 76782204 76782204 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:76782204A>T ENST00000369950.3 - 1 192 c.2T>A c.(1-3)aTg>aAg p.M1K IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCAAATACATTCTGGCTTT 0.3167082294264339 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RIPPLY2 __UNKNOWN__ hg19 6 84567107 84567107 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:84567107A>C ENST00000369689.1 + 4 537 c.386A>C c.(385-387)tAa>tCa p.*129S RIPPLY2_ENST00000369687.1_Nonstop_Mutation_p.*71S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGAAAATTAATCTGATTAG 0.2793017456359102 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RARS2 __UNKNOWN__ hg19 6 88255395 88255400 + In_Frame_Del DEL TTT TTT - 757743894 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:88255395_88255397delTTT ENST00000369536.5 - 7 521_523 c.472_474delAAA c.(472-474)aaadel p.K158del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAAGCTTCTTTGAGATTTGCT 0.2903225806451613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false RARS2:57038 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false 0.999966,3.4343e-005 false false false DIV 0x050000000005040402000200 1 false 144 rs757743894 88255395 true @@ -1639,22 +1639,22 @@ AK9 __UNKNOWN__ hg19 6 109954114 109954114 + Nonstop_Mutation SNP T T A __UNK RFX6 __UNKNOWN__ hg19 6 117249986 117249987 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:117249986_117249987insA ENST00000332958.2 + 18 2479 c.2463_2464insA c.(2464-2466)gttfs p.V822fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATCAGCACGTTTCTGTCA 0.3925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TAAR8 __UNKNOWN__ hg19 6 132874859 132874859 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:132874859A>G ENST00000275200.1 + 1 1028 c.1028A>G c.(1027-1029)tAa>tGa p.*343* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTAGAATAAGTTTAAGCA 0.26184538653366585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false VNN1 __UNKNOWN__ hg19 6 133004281 133004281 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:133004281A>G ENST00000367928.4 - 7 1554 c.1540T>C c.(1540-1542)Tag>Cag p.*514Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAATATTCTACCAACTTAAT 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -BCLAF1 __UNKNOWN__ hg19 6 136603803 136603803 + DE_NOVO_START_OUT_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:136603803A>C ENST00000531224.1 - 2 BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTCTGAGAAATTAAACTCT 0.3092269326683292 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +BCLAF1 __UNKNOWN__ hg19 6 136603803 136603803 + DE_NOVO_START_OUT_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:136603803A>C ENST00000531224.1 - 2 BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000392348.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTCTGAGAAATTAAACTCT 0.3092269326683292 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SUMO4 __UNKNOWN__ hg19 6 149721528 149721528 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:149721528A>G ENST00000326669.4 + 1 34 c.1A>G c.(1-3)Atg>Gtg p.M1V TAB2_ENST00000367456.1_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000536230.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGTTCACCATGGCCAACGA 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SUMO4 __UNKNOWN__ hg19 6 149721529 149721529 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:149721529T>C ENST00000326669.4 + 1 35 c.2T>C c.(1-3)aTg>aCg p.M1T TAB2_ENST00000367456.1_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000536230.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTTCACCATGGCCAACGAA 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SUMO4 __UNKNOWN__ hg19 6 149721815 149721815 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:149721815A>G ENST00000326669.4 + 1 321 c.288A>G c.(286-288)tgA>tgG p.*96W TAB2_ENST00000367456.1_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000536230.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTCTACTGAAAAGGGAACC 0.39650872817955113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PNLDC1 __UNKNOWN__ hg19 6 160241547 160241547 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:160241547T>C ENST00000392167.3 + 19 1628 c.1594T>C c.(1594-1596)Tga>Cga p.*532R PNLDC1_ENST00000610273.1_Nonstop_Mutation_p.*521R __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTGGTACCTGAGTGCAGCG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false SDIM1 __UNKNOWN__ hg19 6 166308924 166308924 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:166308924G>A ENST00000545867.1 - 1 PDE10A_ENST00000535229.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGATCCTCCGTGGTGGCTTT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ABCB5 __UNKNOWN__ hg19 7 20685486 20685487 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:20685486_20685487insA ENST00000404938.2 + 8 1438 c.786_787insA c.(787-789)gagfs p.E263fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGGGCCCAGGAGAAAGAAC 0.3725 __UNKNOWN__ __UNKNOWN__ 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false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MALSU1 __UNKNOWN__ hg19 7 23338972 23338972 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:23338972A>G ENST00000466681.1 + 1 154 c.1A>G c.(1-3)Atg>Gtg p.M1V MALSU1_ENST00000479974.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGCTGCTATGGGGCCGGG 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -STK31 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73442483 + DE_NOVO_START_IN_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:73442483G>T ENST00000252034.7 + 1 ELN_ENST00000414324.1_DE_NOVO_START_IN_FRAME|ELN_ENST00000320492.7_DE_NOVO_START_IN_FRAME|ELN_ENST00000445912.1_DE_NOVO_START_IN_FRAME|ELN_ENST00000380562.4_DE_NOVO_START_IN_FRAME|ELN_ENST00000358929.4_DE_NOVO_START_IN_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATAAAACGAGGTGCGGAGAG 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -HSPB1 __UNKNOWN__ hg19 7 75932030 75932030 + START_CODON_SNP SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:75932030A>C ENST00000248553.6 + 1 170 c.1A>C c.(1-3)Atg>Ctg p.M1L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCAGCCAGCATGACCGAGCG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +VSTM2A __UNKNOWN__ hg19 7 54610426 54610426 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:54610426G>A ENST00000404951.1 + 1 318 c.3G>A c.(1-3)atG>atA p.M1I VSTM2A_ENST00000407838.3_START_CODON_SNP_p.M1I|VSTM2A_ENST00000302287.3_START_CODON_SNP_p.M1I|VSTM2A_ENST00000402613.3_START_CODON_SNP_p.M1I|VSTM2A_ENST00000402026.2_5'UTR|VSTM2A_ENST00000498834.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTGGAATGATGGGGATCT 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +ERV3-1 __UNKNOWN__ hg19 7 64453403 64453403 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:75932030A>C ENST00000248553.6 + 1 170 c.1A>C c.(1-3)Atg>Ctg p.M1L HSPB1_ENST00000429938.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCAGCCAGCATGACCGAGCG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false GNG11 __UNKNOWN__ hg19 7 93551452 93551452 + START_CODON_SNP SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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FBXL13_ENST00000436908.1_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000393772.2_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379308.3_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379305.3_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000455112.2_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGTTGTCCGTCAGAGTTG 0.32 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TMEM168 __UNKNOWN__ hg19 7 112424910 112424910 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCCGCCATGACAGCGCCA 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +NDUFA5 __UNKNOWN__ hg19 7 123197849 123197849 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:123197849T>G ENST00000355749.2 - 1 461 c.1A>C c.(1-3)Atg>Ctg p.M1L NDUFA5_ENST00000471770.1_5'Flank|NDUFA5_ENST00000467117.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCCGCCATGACAGCGCCA 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ZC3HAV1L __UNKNOWN__ hg19 7 138711291 138711291 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:138711291T>A ENST00000275766.1 - 5 914 c.902A>T c.(901-903)tAa>tTa p.*301L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATCTTCTTTACTTCTCGCA 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OR2A5 __UNKNOWN__ hg19 7 143748430 143748430 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:143748430A>G ENST00000408906.2 + 1 970 c.936A>G c.(934-936)tgA>tgG p.*312W __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCAAAGTGAGGGATGCCAG 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false OR2A25 __UNKNOWN__ hg19 7 143771791 143771792 + Frame_Shift_Ins INS - - TAAC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:246T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATAACAATTGAATGTCTGC 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 MT 295 295 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:295C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAAATTTCCACCAAACCC 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 MT 489 489 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:489T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTCATCAATACAACCCCCG 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 MT 499 499 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:499G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAACCCCCGCCCATCCTAC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -MT-RNR2 __UNKNOWN__ hg19 MT 1719 1719 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:1719G>A ENST00000387347.2 + c.e1+48G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAACCTTAGCCAAACCATT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 72 72 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:72T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTGGGGGGTATGCACGCGA 0.4375 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 125 125 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:125T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGTCGCAGTATCTGTCTTT 0.4523076923076923 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 212 212 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:212T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGTGTTAATTAATTAATGC 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 217 217 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:217T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTAATTAATTAATGCTTGTA 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 228 228 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:228G>A ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATGCTTGTAGGACATAATAA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 236 236 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:236T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGGACATAATAATAACAATT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 246 246 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:246T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATAACAATTGAATGTCTGC 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 295 295 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:295C>T ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAAATTTCCACCAAACCC 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 489 489 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:489T>C ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTCATCAATACAACCCCCG 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 499 499 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:499G>A ENST00000361390.2 + MT-RNR2_ENST00000387347.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAACCCCCGCCCATCCTAC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +MT-ND1 __UNKNOWN__ hg19 MT 1719 1719 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:1719G>A ENST00000361390.2 + MT-RNR2_ENST00000387347.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAACCTTAGCCAAACCATT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false MT-ND1 __UNKNOWN__ hg19 MT 3316 3316 + Missense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:3316G>A ENST00000361390.2 + 1 10 c.10G>A c.(10-12)Gcc>Acc p.A4T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATACCCATGGCCAACCTCCT 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf index 9c9ce01a1ea..dd115bb5d2a 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large_expected.vcf @@ -25,7 +25,7 @@ ##FORMAT= ##Funcotator Version=0.0.4 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic v84 | CosmicFusion v84 | CosmicTissue v83 | DNARepairGenes 20180524T145835 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Oreganno 20160119 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 ##Funcotator Version=0.0.5 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 -##GATKCommandLine= +##GATKCommandLine= ##GATKCommandLine= ##Hyb(High)=Hyb(High)|Hybridization|3310|11184 ##Hyb(Low)=Hyb(Low)|Hybridization|3436|1823 @@ -204,7 +204,7 @@ chr1 752566 rs3094315 G A . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|75 chr1 752721 rs3131972 A G . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972] chr1 762320 exm2268640 C T . PASS FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668] chr1 798959 rs11240777 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 838555 rs4970383 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|838555|838555|IGR||SNP|C|C|A|g.chr1:838555C>A|no_transcript|||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 838555 rs4970383 C A . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 846808 rs4475691 C T . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691] chr1 861349 exm41 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669] chr1 861808 rs13302982 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982] @@ -218,16 +218,16 @@ chr1 865694 exm55 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865694|865694|MISSENS chr1 865700 exm56 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865700|865700|MISSENSE||SNP|C|C|T|g.chr1:865700C>T|ENST00000342066.3|+|3|321|c.238C>T|c.(238-240)Cgt>Tgt|p.R80C|0.6384039900249376|TCCGCACATCCGTATCATGAA|AL645608.1_ENST00000598827.1_MISSENSE_p.R16Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116730894|865700|false|false|0|true|0|false|0.997802_%2C_0.00219795|false|false|false|SNV|true|0x050100000a05040436000100|1|false|132|rs116730894] chr1 866429 exm60 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|866429|866429|MISSENSE||SNP|C|C|T|g.chr1:866429C>T|ENST00000342066.3|+|4|348|c.265C>T|c.(265-267)Cac>Tac|p.H89Y|0.6384039900249376|AGTCCACACCCACTGGGACGT|AL645608.1_ENST00000598827.1_NONSENSE_p.W6*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144317111|866429|false|false|0|false|0|false|0.999691_%2C_0.000309108|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144317111] chr1 866438 exm63 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|866438|866438|MISSENSE||SNP|G|G|A|g.chr1:866438G>A|ENST00000342066.3|+|4|357|c.274G>A|c.(274-276)Gtg>Atg|p.V92M|0.6408977556109726|CCACTGGGACGTGAACATCTC|AL645608.1_ENST00000598827.1_MISSENSE_p.T3M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144010167|866438|false|false|0|false|0|false|0.99976_%2C_0.000240418|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs144010167] -chr1 871159 exm67 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871159|871159|MISSENSE||SNP|G|G|A|g.chr1:871159G>A|ENST00000342066.3|+|5|396|c.313G>A|c.(313-315)Ggc>Agc|p.G105S|0.6683291770573566|CAGCCAGGACGGCAACCTTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SAMD11:148398|false|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143282473|871159|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000a05040036000100|1|false|134|rs143282473] -chr1 871213 exm74 C G . PASS FUNCOTATION=[SAMD11|hg19|chr1|871213|871213|MISSENSE||SNP|C|C|G|g.chr1:871213C>G|ENST00000342066.3|+|5|450|c.367C>G|c.(367-369)Ccc>Gcc|p.P123A|0.6783042394014963|CCTCGTTATGCCCGAGCATCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144490434|871213|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144490434] -chr1 871228 exm76 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|871228|871228|MISSENSE||SNP|C|C|T|g.chr1:871228C>T|ENST00000342066.3|+|5|465|c.382C>T|c.(382-384)Cgc>Tgc|p.R128C|0.6608478802992519|GCATCAGAGCCGCTGTGAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|142210309|871228|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs142210309] -chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471] -chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471] -chr1 874456 exm88 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874456|874456|MISSENSE||SNP|G|G|A|g.chr1:874456G>A|ENST00000342066.3|+|6|550|c.467G>A|c.(466-468)cGt>cAt|p.R156H|0.6533665835411472|CGCTCCCCCCGTATCAGCAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984_%2C_._%2C_.|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149677938|874456|false|false|0|false|0|false|0.998626_%2C_0.00127069_%2C_0.000103029_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs149677938] -chr1 874501 exm94 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874501|874501|MISSENSE||SNP|C|C|T|g.chr1:874501C>T|ENST00000342066.3|+|6|595|c.512C>T|c.(511-513)tCg>tTg|p.S171L|0.6658354114713217|CGAAGCGAATCGCCTCAAGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199625867|874501|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199625867] -chr1 874673 exm101 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874673|874673|MISSENSE||SNP|G|G|A|g.chr1:874673G>A|ENST00000342066.3|+|7|622|c.539G>A|c.(538-540)cGg>cAg|p.R180Q|0.6633416458852868|CTGCTGCCGCGGGAGCTGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|112419559|874673|false|false|0|true|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050100000a05040502000100|1|false|132|rs112419559] -chr1 874714 exm104 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874714|874714|MISSENSE||SNP|C|C|T|g.chr1:874714C>T|ENST00000342066.3|+|7|663|c.580C>T|c.(580-582)Cgg>Tgg|p.R194W|0.6733167082294265|CCATTACCGCCGGCTTGTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201596485|874714|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201596485] -chr1 874762 exm106 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874762|874762|MISSENSE||SNP|C|C|T|g.chr1:874762C>T|ENST00000342066.3|+|7|711|c.628C>T|c.(628-630)Cgc>Tgc|p.R210C|0.6683291770573566|GGACCCTCAGCGCCTCTACCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9984_%2C_0.001597|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139437968|874762|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs139437968] +chr1 871159 exm67 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871159|871159|MISSENSE||SNP|G|G|A|g.chr1:871159G>A|ENST00000342066.3|+|5|396|c.313G>A|c.(313-315)Ggc>Agc|p.G105S|0.6683291770573566|CAGCCAGGACGGCAACCTTCC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK/AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SAMD11:148398|false|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143282473|871159|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000a05040036000100|1|false|134|rs143282473] +chr1 871213 exm74 C G . PASS FUNCOTATION=[SAMD11|hg19|chr1|871213|871213|MISSENSE||SNP|C|C|G|g.chr1:871213C>G|ENST00000342066.3|+|5|450|c.367C>G|c.(367-369)Ccc>Gcc|p.P123A|0.6783042394014963|CCTCGTTATGCCCGAGCATCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK/AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144490434|871213|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144490434] +chr1 871228 exm76 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|871228|871228|MISSENSE||SNP|C|C|T|g.chr1:871228C>T|ENST00000342066.3|+|5|465|c.382C>T|c.(382-384)Cgc>Tgc|p.R128C|0.6608478802992519|GCATCAGAGCCGCTGTGAATT|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK/AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|142210309|871228|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs142210309] +chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK/AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471] +chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK/AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471] +chr1 874456 exm88 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874456|874456|MISSENSE||SNP|G|G|A|g.chr1:874456G>A|ENST00000342066.3|+|6|550|c.467G>A|c.(466-468)cGt>cAt|p.R156H|0.6533665835411472|CGCTCCCCCCGTATCAGCAGC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984_%2C_._%2C_.|false|false|0||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149677938|874456|false|false|0|false|0|false|0.998626_%2C_0.00127069_%2C_0.000103029_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs149677938] +chr1 874501 exm94 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874501|874501|MISSENSE||SNP|C|C|T|g.chr1:874501C>T|ENST00000342066.3|+|6|595|c.512C>T|c.(511-513)tCg>tTg|p.S171L|0.6658354114713217|CGAAGCGAATCGCCTCAAGGT|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199625867|874501|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs199625867] +chr1 874673 exm101 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|874673|874673|MISSENSE||SNP|G|G|A|g.chr1:874673G>A|ENST00000342066.3|+|7|622|c.539G>A|c.(538-540)cGg>cAg|p.R180Q|0.6633416458852868|CTGCTGCCGCGGGAGCTGGGG|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|112419559|874673|false|false|0|true|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050100000a05040502000100|1|false|132|rs112419559] +chr1 874714 exm104 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874714|874714|MISSENSE||SNP|C|C|T|g.chr1:874714C>T|ENST00000342066.3|+|7|663|c.580C>T|c.(580-582)Cgg>Tgg|p.R194W|0.6733167082294265|CCATTACCGCCGGCTTGTGTC|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SAMD11:148398|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201596485|874714|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201596485] +chr1 874762 exm106 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|874762|874762|MISSENSE||SNP|C|C|T|g.chr1:874762C>T|ENST00000342066.3|+|7|711|c.628C>T|c.(628-630)Cgc>Tgc|p.R210C|0.6683291770573566|GGACCCTCAGCGCCTCTACCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9984_%2C_0.001597|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139437968|874762|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs139437968] chr1 877556 exm116 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|877556|877556|MISSENSE||SNP|G|G|A|g.chr1:877556G>A|ENST00000342066.3|+|9|993|c.910G>A|c.(910-912)Gcc>Acc|p.A304T|0.7605985037406484|GCCGCAGAATGCCCCTCACGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201313326|877556|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080a05040402000100|1|false|137|rs201313326] chr1 878250 exm2233917 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|878250|878250|MISSENSE||SNP|A|A|G|g.chr1:878250A>G|ENST00000342066.3|+|11|1459|c.1376A>G|c.(1375-1377)gAt>gGt|p.D459G|0.7406483790523691|TGGGCACAAGATGGCTCGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_._%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|552457744|878250|false|false|0|false|0|false|0.999931_%2C_._%2C_6.8686e-005|false|false|false|SNV|true|0x050000080a05040426000100|1|false|142|rs552457744] chr1 878423 exm145 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|878423|878423|MISSENSE||SNP|C|C|T|g.chr1:878423C>T|ENST00000342066.3|+|11|1632|c.1549C>T|c.(1549-1551)Ccc>Tcc|p.P517S|0.6583541147132169|TGCCGTCAGCCCCTACTTCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|SAMD11:148398|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201075481|878423|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000080a05040426000100|1|false|137|rs201075481] @@ -265,38 +265,38 @@ chr1 888659 exm340 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|888659|888659|MISSENS chr1 889238 exm348 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|889238|889238|MISSENSE||SNP|G|G|A|g.chr1:889238G>A|ENST00000327044.6|-|8|862|c.812C>T|c.(811-813)gCg>gTg|p.A271V|0.6384039900249376|CAGCACGGCCGCCAACACCGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9435_%2C_0.05651_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3828049|889238|false|false|0|true|0|false|0.963081_%2C_0.0369187_%2C_.|false|false|false|SNV|true|0x050100000a05150536000100|1|false|107|rs3828049] chr1 889387 exm352 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|889387|889387|MISSENSE||SNP|T|T|C|g.chr1:889387T>C|ENST00000327044.6|-|7|824|c.774A>G|c.(772-774)atA>atG|p.I258M|0.6458852867830424|ATAGCACCTGTATGGCCGAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200405190|889387|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200405190] chr1 889403 exm355 T A . PASS FUNCOTATION=[NOC2L|hg19|chr1|889403|889403|MISSENSE||SNP|T|T|A|g.chr1:889403T>A|ENST00000327044.6|-|7|808|c.758A>T|c.(757-759)tAc>tTc|p.Y253F|0.6359102244389028|CGAGCCCAGGTAAGCCTTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9942_%2C_0.005791|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|62639963|889403|false|false|0|false|0|false|0.993269_%2C_0.00673123|false|false|false|SNV|true|0x050000000a05040536000100|1|false|129|rs62639963] -chr1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075] -chr1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789] -chr1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958] -chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763] -chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763] -chr1 891591 exm382 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891591|891591|MISSENSE||SNP|C|C|T|g.chr1:891591C>T|ENST00000327044.6|-|5|541|c.491G>A|c.(490-492)cGc>cAc|p.R164H|0.571072319201995|TGGAGTGAGGCGTTGCTGAAG|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138672231|891591|false|false|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs138672231] -chr1 891592 exm383 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891592|891592|MISSENSE||SNP|G|G|A|g.chr1:891592G>A|ENST00000327044.6|-|5|540|c.490C>T|c.(490-492)Cgc>Tgc|p.R164C|0.57356608478803|GGAGTGAGGCGTTGCTGAAGG|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200815419|891592|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200815419] -chr1 892380 exm395 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|892380|892380|MISSENSE||SNP|G|G|A|g.chr1:892380G>A|ENST00000327044.6|-|4|430|c.380C>T|c.(379-381)gCg>gTg|p.A127V|0.6059850374064838|TCCTTCCTCCGCTCCATCCTC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150615968|892380|false|false|0|false|0|false|0.997424_%2C_0.00257573|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150615968] -chr1 892388 exm396 C G . PASS FUNCOTATION=[NOC2L|hg19|chr1|892388|892388|MISSENSE||SNP|C|C|G|g.chr1:892388C>G|ENST00000327044.6|-|4|422|c.372G>C|c.(370-372)gaG>gaC|p.E124D|0.5985037406483791|CCGCTCCATCCTCCTCCTCAC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149856680|892388|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs149856680] -chr1 892648 exm1918242 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|892648|892648|MISSENSE||SNP|C|C|T|g.chr1:892648C>T|ENST00000327044.6|-|3|235|c.185G>A|c.(184-186)cGt>cAt|p.R62H|0.5785536159600998|ACGGCCTTTACGCCGGCTGAG|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|185378741|892648|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|135|rs185378741] -chr1 894315 exm410 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894315|894315|MISSENSE||SNP|G|G|A|g.chr1:894315G>A|ENST00000327044.6|-|2|223|c.173C>T|c.(172-174)tCg>tTg|p.S58L|0.6334164588528678|TAACCTGGCCGAGGGGCTCCC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|201512962|894315|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040426000100|1|false|137|rs201512962] -chr1 894330 exm411 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894330|894330|MISSENSE||SNP|G|G|A|g.chr1:894330G>A|ENST00000327044.6|-|2|208|c.158C>T|c.(157-159)cCg>cTg|p.P53L|0.6359102244389028|GCTCCCGCCCGGCTTATCCGG|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144217019|894330|false|false|0|false|0|false|0.999382_%2C_0.000618174|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs144217019] -chr1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010] -chr1 894610 exm425 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894610|894610|MISSENSE||SNP|G|G|A|g.chr1:894610G>A|ENST00000327044.6|-|1|61|c.11C>T|c.(10-12)gCg>gTg|p.A4V|0.71571072319202|GCGGCTCCCCGCAGCTGCCAT|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140357200|894610|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000020a05040426000100|1|false|134|rs140357200] -chr1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517] -chr1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517] -chr1 897285 exm464 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897285|897285|MISSENSE||SNP|A|A|G|g.chr1:897285A>G|ENST00000338591.3|+|4|676|c.569A>G|c.(568-570)gAc>gGc|p.D190G|0.6458852867830424|AGTCAGCTCGACCCCTCCAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|149866042|897285|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs149866042] -chr1 897849 exm493 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|897849|897849|MISSENSE||SNP|C|C|T|g.chr1:897849C>T|ENST00000338591.3|+|5|933|c.826C>T|c.(826-828)Cgg>Tgg|p.R276W|0.6533665835411472|GCATGTCCCACGGGTGAGGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146903778|897849|false|false|0|true|0|true|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050100000b05040402000100|1|false|134|rs146903778] -chr1 898153 exm503 C A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898153|898153|MISSENSE||SNP|C|C|A|g.chr1:898153C>A|ENST00000338591.3|+|6|1005|c.898C>A|c.(898-900)Ctg>Atg|p.L300M|0.6633416458852868|TGCCGAGAGCCTGGTGAGGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398_%2C_.|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147703918|898153|false|false|0|false|0|false|0.998695_%2C_0.00130503_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs147703918] -chr1 898247 exm513 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898247|898247|MISSENSE||SNP|G|G|A|g.chr1:898247G>A|ENST00000338591.3|+|6|1099|c.992G>A|c.(991-993)cGc>cAc|p.R331H|0.6783042394014963|GGCACCAGCCGCACACGTCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146171900|898247|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs146171900] -chr1 898542 exm534 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|898542|898542|MISSENSE||SNP|A|A|G|g.chr1:898542A>G|ENST00000338591.3|+|7|1203|c.1096A>G|c.(1096-1098)Acc>Gcc|p.T366A|0.6807980049875312|CGACACGCGCACCGACCGCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|186429850|898542|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs186429850] -chr1 898782 exm545 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898782|898782|MISSENSE||SNP|C|C|T|g.chr1:898782C>T|ENST00000338591.3|+|8|1360|c.1253C>T|c.(1252-1254)cCg>cTg|p.P418L|0.6259351620947631|ACGTGGCAGCCGGAGGTGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200489647|898782|false|true|0|true|0|false|0.99976_%2C_._%2C_0.000240401|false|false|false|SNV|true|0x050300000a05040402000100|1|false|137|rs200489647] -chr1 898787 exm546 G T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898787|898787|MISSENSE||SNP|G|G|T|g.chr1:898787G>T|ENST00000338591.3|+|8|1365|c.1258G>T|c.(1258-1260)Gtg>Ttg|p.V420L|0.6209476309226932|GCAGCCGGAGGTGTCCATGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143920987|898787|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|134|rs143920987] -chr1 898869 exm554 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898869|898869|MISSENSE||SNP|C|C|T|g.chr1:898869C>T|ENST00000338591.3|+|8|1447|c.1340C>T|c.(1339-1341)gCc>gTc|p.A447V|0.6084788029925187|TATGACGGGGCCTCCTGCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138106672|898869|false|true|0|false|0|false|0.999897_%2C_0.000103036|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs138106672] -chr1 899489 exm564 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899489|899489|MISSENSE||SNP|G|G|A|g.chr1:899489G>A|ENST00000338591.3|+|10|1554|c.1447G>A|c.(1447-1449)Ggg>Agg|p.G483R|0.6733167082294265|TCCGGCAGATGGGAACCTGTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200468119|899489|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200468119] -chr1 899537 exm570 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|899537|899537|MISSENSE||SNP|A|A|G|g.chr1:899537A>G|ENST00000338591.3|+|10|1602|c.1495A>G|c.(1495-1497)Act>Gct|p.T499A|0.6807980049875312|ACACCTGGCCACTGTGGAGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|192525640|899537|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs192525640] -chr1 899789 exm580 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899789|899789|MISSENSE||SNP|G|G|A|g.chr1:899789G>A|ENST00000338591.3|+|11|1686|c.1579G>A|c.(1579-1581)Gtg>Atg|p.V527M|0.7082294264339152|GGGCGTGGCCGTGCTGGAGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199893924|899789|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs199893924] -chr1 900383 chr1_900383 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900383|900383|MISSENSE||SNP|G|G|A|g.chr1:900383G>A|ENST00000338591.3|+|12|1848|c.1741G>A|c.(1741-1743)Gcc>Acc|p.A581T|0.6608478802992519|ATGGTTGTACGCCGTGGGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|749868050|900383|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040002000100|1|false|144|rs749868050] -chr1 900427 exm2253593 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058] -chr1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058] -chr1 900519 exm603 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|900519|900519|MISSENSE||SNP|A|A|G|g.chr1:900519A>G|ENST00000338591.3|+|12|1984|c.1877A>G|c.(1876-1878)aAt>aGt|p.N626S|0.5960099750623441|GAGCTGCTCAATTTCCCGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140019196|900519|false|false|0|false|0|false|0.999657_%2C_0.000343454|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs140019196] -chr1 900560 exm611 A C . PASS FUNCOTATION=[KLHL17|hg19|chr1|900560|900560|MISSENSE||SNP|A|A|C|g.chr1:900560A>C|ENST00000338591.3|+|12|2025|c.1918A>C|c.(1918-1920)Acc>Ccc|p.T640P|0.5760598503740648|CGTGTCCTCCACCAGCCTCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|188543688|900560|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|135|rs188543688] +chr1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075] +chr1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789] +chr1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958] +chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763] +chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763] +chr1 891591 exm382 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891591|891591|MISSENSE||SNP|C|C|T|g.chr1:891591C>T|ENST00000327044.6|-|5|541|c.491G>A|c.(490-492)cGc>cAc|p.R164H|0.571072319201995|TGGAGTGAGGCGTTGCTGAAG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138672231|891591|false|false|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs138672231] +chr1 891592 exm383 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891592|891592|MISSENSE||SNP|G|G|A|g.chr1:891592G>A|ENST00000327044.6|-|5|540|c.490C>T|c.(490-492)Cgc>Tgc|p.R164C|0.57356608478803|GGAGTGAGGCGTTGCTGAAGG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200815419|891592|false|false|0|false|0|false|0.999588_%2C_0.000412116|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200815419] +chr1 892380 exm395 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|892380|892380|MISSENSE||SNP|G|G|A|g.chr1:892380G>A|ENST00000327044.6|-|4|430|c.380C>T|c.(379-381)gCg>gTg|p.A127V|0.6059850374064838|TCCTTCCTCCGCTCCATCCTC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|150615968|892380|false|false|0|false|0|false|0.997424_%2C_0.00257573|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs150615968] +chr1 892388 exm396 C G . PASS FUNCOTATION=[NOC2L|hg19|chr1|892388|892388|MISSENSE||SNP|C|C|G|g.chr1:892388C>G|ENST00000327044.6|-|4|422|c.372G>C|c.(370-372)gaG>gaC|p.E124D|0.5985037406483791|CCGCTCCATCCTCCTCCTCAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149856680|892388|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs149856680] +chr1 892648 exm1918242 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|892648|892648|MISSENSE||SNP|C|C|T|g.chr1:892648C>T|ENST00000327044.6|-|3|235|c.185G>A|c.(184-186)cGt>cAt|p.R62H|0.5785536159600998|ACGGCCTTTACGCCGGCTGAG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|185378741|892648|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040436000100|1|false|135|rs185378741] +chr1 894315 exm410 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894315|894315|MISSENSE||SNP|G|G|A|g.chr1:894315G>A|ENST00000327044.6|-|2|223|c.173C>T|c.(172-174)tCg>tTg|p.S58L|0.6334164588528678|TAACCTGGCCGAGGGGCTCCC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|201512962|894315|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040426000100|1|false|137|rs201512962] +chr1 894330 exm411 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894330|894330|MISSENSE||SNP|G|G|A|g.chr1:894330G>A|ENST00000327044.6|-|2|208|c.158C>T|c.(157-159)cCg>cTg|p.P53L|0.6359102244389028|GCTCCCGCCCGGCTTATCCGG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144217019|894330|false|false|0|false|0|false|0.999382_%2C_0.000618174|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs144217019] +chr1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010] +chr1 894610 exm425 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894610|894610|MISSENSE||SNP|G|G|A|g.chr1:894610G>A|ENST00000327044.6|-|1|61|c.11C>T|c.(10-12)gCg>gTg|p.A4V|0.71571072319202|GCGGCTCCCCGCAGCTGCCAT|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|KLHL17:339451_%7C_NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140357200|894610|false|false|0|false|0|false|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000020a05040426000100|1|false|134|rs140357200] +chr1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517] +chr1 897009 exm447 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897009|897009|SPLICE_SITE|MISSENSE|SNP|A|A|G|g.chr1:897009A>G|ENST00000338591.3|+|3|475|c.368A>G|c.(367-369)aAt>aGt|p.N123S|0.6633416458852868|GTCCCCGCAGATGAGATGAGC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|138690517|897009|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs138690517] +chr1 897285 exm464 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|897285|897285|MISSENSE||SNP|A|A|G|g.chr1:897285A>G|ENST00000338591.3|+|4|676|c.569A>G|c.(568-570)gAc>gGc|p.D190G|0.6458852867830424|AGTCAGCTCGACCCCTCCAAC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|149866042|897285|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs149866042] +chr1 897849 exm493 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|897849|897849|MISSENSE||SNP|C|C|T|g.chr1:897849C>T|ENST00000338591.3|+|5|933|c.826C>T|c.(826-828)Cgg>Tgg|p.R276W|0.6533665835411472|GCATGTCCCACGGGTGAGGCG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146903778|897849|false|false|0|true|0|true|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050100000b05040402000100|1|false|134|rs146903778] +chr1 898153 exm503 C A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898153|898153|MISSENSE||SNP|C|C|A|g.chr1:898153C>A|ENST00000338591.3|+|6|1005|c.898C>A|c.(898-900)Ctg>Atg|p.L300M|0.6633416458852868|TGCCGAGAGCCTGGTGAGGCA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398_%2C_.|false|false|1||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147703918|898153|false|false|0|false|0|false|0.998695_%2C_0.00130503_%2C_.|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs147703918] +chr1 898247 exm513 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|898247|898247|MISSENSE||SNP|G|G|A|g.chr1:898247G>A|ENST00000338591.3|+|6|1099|c.992G>A|c.(991-993)cGc>cAc|p.R331H|0.6783042394014963|GGCACCAGCCGCACACGTCCC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146171900|898247|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs146171900] +chr1 898542 exm534 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|898542|898542|MISSENSE||SNP|A|A|G|g.chr1:898542A>G|ENST00000338591.3|+|7|1203|c.1096A>G|c.(1096-1098)Acc>Gcc|p.T366A|0.6807980049875312|CGACACGCGCACCGACCGCTG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|186429850|898542|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs186429850] +chr1 898782 exm545 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898782|898782|MISSENSE||SNP|C|C|T|g.chr1:898782C>T|ENST00000338591.3|+|8|1360|c.1253C>T|c.(1252-1254)cCg>cTg|p.P418L|0.6259351620947631|ACGTGGCAGCCGGAGGTGTCC|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200489647|898782|false|true|0|true|0|false|0.99976_%2C_._%2C_0.000240401|false|false|false|SNV|true|0x050300000a05040402000100|1|false|137|rs200489647] +chr1 898787 exm546 G T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898787|898787|MISSENSE||SNP|G|G|T|g.chr1:898787G>T|ENST00000338591.3|+|8|1365|c.1258G>T|c.(1258-1260)Gtg>Ttg|p.V420L|0.6209476309226932|GCAGCCGGAGGTGTCCATGGG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|143920987|898787|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|134|rs143920987] +chr1 898869 exm554 C T . PASS FUNCOTATION=[KLHL17|hg19|chr1|898869|898869|MISSENSE||SNP|C|C|T|g.chr1:898869C>T|ENST00000338591.3|+|8|1447|c.1340C>T|c.(1339-1341)gCc>gTc|p.A447V|0.6084788029925187|TATGACGGGGCCTCCTGCCTG|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138106672|898869|false|true|0|false|0|false|0.999897_%2C_0.000103036|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs138106672] +chr1 899489 exm564 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899489|899489|MISSENSE||SNP|G|G|A|g.chr1:899489G>A|ENST00000338591.3|+|10|1554|c.1447G>A|c.(1447-1449)Ggg>Agg|p.G483R|0.6733167082294265|TCCGGCAGATGGGAACCTGTA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200468119|899489|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200468119] +chr1 899537 exm570 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|899537|899537|MISSENSE||SNP|A|A|G|g.chr1:899537A>G|ENST00000338591.3|+|10|1602|c.1495A>G|c.(1495-1497)Act>Gct|p.T499A|0.6807980049875312|ACACCTGGCCACTGTGGAGAA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|192525640|899537|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|135|rs192525640] +chr1 899789 exm580 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|899789|899789|MISSENSE||SNP|G|G|A|g.chr1:899789G>A|ENST00000338591.3|+|11|1686|c.1579G>A|c.(1579-1581)Gtg>Atg|p.V527M|0.7082294264339152|GGGCGTGGCCGTGCTGGAGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199893924|899789|false|true|0|false|0|false|0.999485_%2C_0.000515145|false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs199893924] +chr1 900383 chr1_900383 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900383|900383|MISSENSE||SNP|G|G|A|g.chr1:900383G>A|ENST00000338591.3|+|12|1848|c.1741G>A|c.(1741-1743)Gcc>Acc|p.A581T|0.6608478802992519|ATGGTTGTACGCCGTGGGGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|749868050|900383|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040002000100|1|false|144|rs749868050] +chr1 900427 exm2253593 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058] +chr1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058] +chr1 900519 exm603 A G . PASS FUNCOTATION=[KLHL17|hg19|chr1|900519|900519|MISSENSE||SNP|A|A|G|g.chr1:900519A>G|ENST00000338591.3|+|12|1984|c.1877A>G|c.(1876-1878)aAt>aGt|p.N626S|0.5960099750623441|GAGCTGCTCAATTTCCCGCCG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|140019196|900519|false|false|0|false|0|false|0.999657_%2C_0.000343454|false|false|false|SNV|true|0x050000020a05040402000100|1|false|134|rs140019196] +chr1 900560 exm611 A C . PASS FUNCOTATION=[KLHL17|hg19|chr1|900560|900560|MISSENSE||SNP|A|A|C|g.chr1:900560A>C|ENST00000338591.3|+|12|2025|c.1918A>C|c.(1918-1920)Acc>Ccc|p.T640P|0.5760598503740648|CGTGTCCTCCACCAGCCTCTG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|188543688|900560|false|false|0|false|0|false||false|false|false|SNV|true|0x050000020a05040402000100|1|false|135|rs188543688] chr1 901922 exm1918827 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|901922|901922|MISSENSE||SNP|G|G|A|g.chr1:901922G>A|ENST00000379410.3|+|1|46|c.11G>A|c.(10-12)aGc>aAc|p.S4N|0.7231920199501247|ATGGGGAACAGCCACTGTGTC|PLEKHN1_ENST00000379407.3_MISSENSE_p.S4N/PLEKHN1_ENST00000379409.2_MISSENSE_p.S4N|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_0.01058_%2C_0.001198|false|false|1||false|false|false|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|62639980|901922|false|false|0|true|0|false|0.98221_%2C_0.0158321_%2C_0.00195755|false|false|false|SNV|true|0x050100000a05140536000100|1|false|129|rs62639980] chr1 901923 exm615 C A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|901923|901923|MISSENSE||SNP|C|C|A|g.chr1:901923C>A|ENST00000379410.3|+|1|47|c.12C>A|c.(10-12)agC>agA|p.S4R|0.7256857855361596|TGGGGAACAGCCACTGTGTCC|PLEKHN1_ENST00000379407.3_MISSENSE_p.S4R/PLEKHN1_ENST00000379409.2_MISSENSE_p.S4R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9894_%2C_0.01058|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149741186|901923|false|false|0|true|0|false|0.984168_%2C_0.0158321|false|false|false|SNV|true|0x050100000a05140436000100|1|false|134|rs149741186] chr1 902088 exm624 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|902088|902088|MISSENSE||SNP|G|G|A|g.chr1:902088G>A|ENST00000379410.3|+|2|123|c.88G>A|c.(88-90)Gac>Aac|p.D30N|0.71571072319202|CCCCAGAGAGGACAGCGCGCG|PLEKHN1_ENST00000379407.3_MISSENSE_p.D30N/PLEKHN1_ENST00000379409.2_MISSENSE_p.D30N|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201730138|902088|false|false|0|false|0|false|0.999622_%2C_0.000377773|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201730138] @@ -329,31 +329,31 @@ chr1 908389 exm738 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908389|908389|SPLIC chr1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601] chr1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601] chr1 909320 exm2253598 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909320|909320|SILENT||SNP|C|C|T|g.chr1:909320C>T|ENST00000379410.3|+|14|1577|c.1542C>T|c.(1540-1542)ccC>ccT|p.P514P|0.6957605985037406|CCTCCGGCCCCGCTGGCCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.P479P/PLEKHN1_ENST00000379409.2_SILENT_p.P566P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144710974|909320|false|false|0|false|0|true|0.998077_%2C_0.00192334|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144710974] -chr1 918573 rs2341354 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|918573|918573|IGR||SNP|A|A|G|g.chr1:918573A>G|no_transcript|||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 918573 rs2341354 A G . PASS FUNCOTATION=[C1orf170|hg19|chr1|918573|918573|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:918573A>G|ENST00000341290.2|-||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG|C1orf170_ENST00000433179.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 928836 rs9777703 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|928836|928836|IGR||SNP|C|C|T|g.chr1:928836C>T|no_transcript|||||||0.5985037406483791|TTCCTAAAGCCGAACTGGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 932457 rs1891910 G A . PASS FUNCOTATION=[RP11-54O7.17|hg19|chr1|932457|932457|LINCRNA||SNP|G|G|A|g.chr1:932457G>A|ENST00000606034.1|-|||c.e1-974C>T|||0.6408977556109726|CATTCAAAGGGATGGATTAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8684_%2C_0.1316_%2C_.|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1891910|932457|false|false|0|true|0|false|0.840569_%2C_0.159397_%2C_3.43454e-005|false|false|false|SNV|true|0x05010000000515053f000100|1|false|92|rs1891910] -chr1 944564 rs3128117 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|944564|944564|IGR||SNP|T|T|C|g.chr1:944564T>C|no_transcript|||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 944564 rs3128117 T C . PASS FUNCOTATION=[ISG15|hg19|chr1|944564|944564|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:944564T>C|ENST00000379389.4|+||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 962210 rs3128126 A G . PASS FUNCOTATION=[AGRN|hg19|chr1|962210|962210|INTRON||SNP|A|A|G|g.chr1:962210A>G|ENST00000379370.2|+|||c.e2+4368A>G|||0.6658354114713217|ATATCACCCCATGGACAGTCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6945_%2C_0.3055|false|false|1||false|true|true|AGRN:375790|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128126|962210|false|false|0|true|0|false|0.661481_%2C_0.338519|false|false|false|SNV|true|0x05010008000517053f000100|1|false|103|rs3128126] chr1 980903 exm1107 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|980903|980903|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:980903C>T|ENST00000379370.2|+|14|2586|c.2536C>T|c.(2536-2538)Ccc>Tcc|p.P846S|0.6633416458852868|TGGCTGTACACGTGAGTGACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|AGRN:375790|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|138248828|980903|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs138248828] chr1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080] chr1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080] chr1 984947 exm1957592 G A . PASS FUNCOTATION=[AGRN|hg19|chr1|984947|984947|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:984947G>A|ENST00000379370.2|+|26|4566|c.4516G>A|c.(4516-4518)Gcg>Acg|p.A1506T|0.7007481296758105|TGGTGGCAGGGCGCTGGAGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200182409|984947|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000a05040436000100|1|false|137|rs200182409] -chr1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153] -chr1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153] -chr1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136] +chr1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG|RP11-54O7.14_ENST00000418300.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153] +chr1 985614 exm1300 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|985614|985614|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:985614C>T|ENST00000379370.2|+|28|4931|c.4881C>T|c.(4879-4881)gcC>gcT|p.A1627A|0.6633416458852868|TCCCTACAGCCTCGGGGCAGG|RP11-54O7.14_ENST00000418300.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144586153|985614|false|false|0|false|0|true|0.999691_%2C_0.000309087|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144586153] +chr1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA/RP11-465B22.3_ENST00000427998.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136] chr1 998395 rs7526076 A G . PASS FUNCOTATION=[RP11-465B22.3|hg19|chr1|998395|998395|RNA||SNP|A|A|G|g.chr1:998395A>G|ENST00000427998.1|+|||c.e3-64A>G|||0.655860349127182|CGTGGAAACAATGAGGGAGGT|RP11-54O7.18_ENST00000442292.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1777_%2C_0.8223|false|false|1||false|true|true|LOC100288175:100288175|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7526076|998395|false|false|0|true|0|false|0.225771_%2C_0.774229|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7526076] chr1 1018704 rs9442372 A G . PASS FUNCOTATION=[C1orf159|hg19|chr1|1018704|1018704|INTRON||SNP|A|A|G|g.chr1:1018704A>G|ENST00000379339.1|-|||c.e12+337T>C|||0.6384039900249376|CCGTAGTCCCAAGACCTCGAA|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.389_%2C_0.611|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442372|1018704|false|false|0|true|0|false|0.413524_%2C_0.586476|false|false|false|SNV|true|0x05010008000517053f000101|1|false|119|rs9442372] chr1 1021583 rs10907178 A C . PASS FUNCOTATION=[C1orf159|hg19|chr1|1021583|1021583|INTRON||SNP|A|A|C|g.chr1:1021583A>C|ENST00000379339.1|-|||c.e9+191T>G|||0.6758104738154613|ATGCCTGGGCATCTGGCCGCG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8263_%2C_0.1737|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10907178|1021583|false|false|0|true|0|false|0.814754_%2C_0.185246|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10907178] -chr1 1030565 rs6687776 C T . PASS FUNCOTATION=[C1orf159|hg19|chr1|1030565|1030565|INTRON||SNP|C|C|T|g.chr1:1030565C>T|ENST00000379339.1|-|||c.e3+3082G>A|||0.4139650872817955|TGATTAATTGCTTTGGCAATT|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6933_%2C_0.3067|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|6687776|1030565|false|false|0|true|0|false|0.686242_%2C_0.313758|false|false|false|SNV|true|0x05012808000517053f000101|1|false|116|rs6687776] +chr1 1030565 rs6687776 C T . PASS FUNCOTATION=[C1orf159|hg19|chr1|1030565|1030565|INTRON||SNP|C|C|T|g.chr1:1030565C>T|ENST00000379339.1|-|||c.e3+3082G>A|||0.4139650872817955|TGATTAATTGCTTTGGCAATT|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_FLANK/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6933_%2C_0.3067|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|6687776|1030565|false|false|0|true|0|false|0.686242_%2C_0.313758|false|false|false|SNV|true|0x05012808000517053f000101|1|false|116|rs6687776] chr1 1040026 rs6671356 T C . PASS FUNCOTATION=[C1orf159|hg19|chr1|1040026|1040026|INTRON||SNP|T|T|C|g.chr1:1040026T>C|ENST00000379339.1|-|||c.e2-10376A>G|||0.5211970074812967|CAAGCCTGCATGGTCTGGACA|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7171_%2C_0.2829|false|false|1||false|true|true|C1orf159:54991|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6671356|1040026|false|false|0|true|0|false|0.710488_%2C_0.289512|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs6671356] chr1 1062638 exm2263810 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1062638 rs9442373 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1066403 rs10907182 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1066403|1066403|IGR||SNP|T|T|C|g.chr1:1066403T>C|no_transcript|||||||0.5935162094763092|GGTCCGGCAATGGCATCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1097335 rs9442385 T G . PASS FUNCOTATION=[Unknown|hg19|chr1|1097335|1097335|IGR||SNP|T|T|G|g.chr1:1097335T>G|no_transcript|||||||0.6309226932668329|GGGCTCTTCCTCTGGGAGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1106784 rs4442317 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1106784|1106784|IGR||SNP|T|T|C|g.chr1:1106784T>C|no_transcript|||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1106784 rs4442317 T C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1106784|1106784|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1106784T>C|ENST00000379289.1|+||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG|TTLL10_ENST00000379290.1_FIVE_PRIME_FLANK/TTLL10_ENST00000506177.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1110019 rs11260542 A G . PASS FUNCOTATION=[TTLL10|hg19|chr1|1110019|1110019|INTRON||SNP|A|A|G|g.chr1:1110019A>G|ENST00000379290.1|+|||c.e3+150A>G|||0.5685785536159601|AGGACACGTCAGTCAGCATCT|TTLL10_ENST00000379289.1_INTRON/TTLL10-AS1_ENST00000379317.1_RNA/TTLL10_ENST00000506177.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8554_%2C_0.1446|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260542|1110019|false|false|0|true|0|false|0.84422_%2C_0.15578|false|false|false|SNV|true|0x050100080005150537000100|1|false|120|rs11260542] -chr1 1113121 rs12092254 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1113121|1113121|INTRON||SNP|G|G|A|g.chr1:1113121G>A|ENST00000379290.1|+|||c.e4-1448G>A|||0.6059850374064838|GGTGCTGAGGGCCCATGAGAA|TTLL10_ENST00000379289.1_INTRON/TTLL10-AS1_ENST00000379317.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8786_%2C_0.1214|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12092254|1113121|false|false|0|true|0|false|0.881997_%2C_0.118003|false|false|false|SNV|true|0x0501000a0005150537000100|1|false|120|rs12092254] -chr1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590] +chr1 1113121 rs12092254 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1113121|1113121|INTRON||SNP|G|G|A|g.chr1:1113121G>A|ENST00000379290.1|+|||c.e4-1448G>A|||0.6059850374064838|GGTGCTGAGGGCCCATGAGAA|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_FIVE_PRIME_FLANK/TTLL10-AS1_ENST00000379317.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8786_%2C_0.1214|false|false|1||false|true|false|TTLL10:254173_%7C_TTLL10-AS1:100506376|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12092254|1113121|false|false|0|true|0|false|0.881997_%2C_0.118003|false|false|false|SNV|true|0x0501000a0005150537000100|1|false|120|rs12092254] +chr1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*/TTLL10-AS1_ENST00000379317.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590] chr1 1120488 exm1649 A C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120488|1120488|SPLICE_SITE|MISSENSE|SNP|A|A|C|g.chr1:1120488A>C|ENST00000379290.1|+|13|1573|c.1400A>C|c.(1399-1401)aAg>aCg|p.K467T|0.6309226932668329|ACCACCCTCAAGGTGCGTCCA|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467T/TTLL10_ENST00000379288.3_MISSENSE_p.K394T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9782_%2C_0.02177|false|false|1||false|true|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|74475385|1120488|false|true|0|true|0|false|0.971564_%2C_0.028436|false|false|false|SNV|true|0x050300000a0515043e000100|1|false|131|rs74475385] chr1 1120489 exm2249617 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120489|1120489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1120489G>A|ENST00000379290.1|+|13|1574|c.1401G>A|c.(1399-1401)aaG>aaA|p.K467K|0.6309226932668329|CCACCCTCAAGGTGCGTCCAC|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467K/TTLL10_ENST00000379288.3_SILENT_p.K394K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|142263062|1120489|false|true|0|false|0|true||false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs142263062] chr1 1120489 exm2249617 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120489|1120489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1120489G>A|ENST00000379290.1|+|13|1574|c.1401G>A|c.(1399-1401)aaG>aaA|p.K467K|0.6309226932668329|CCACCCTCAAGGTGCGTCCAC|TTLL10_ENST00000379289.1_SPLICE_SITE_p.K467K/TTLL10_ENST00000379288.3_SILENT_p.K394K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|142263062|1120489|false|true|0|false|0|true||false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs142263062] @@ -368,7 +368,7 @@ chr1 1139268 exm1688 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139268|1139268| chr1 1139287 exm1692 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139287|1139287|SILENT||SNP|G|G|A|g.chr1:1139287G>A|ENST00000379268.2|-|5|783|c.663C>T|c.(661-663)ccC>ccT|p.P221P|0.7007481296758105|GCTCTTCCTCGGGGAACTGGC|TNFRSF18_ENST00000379265.5_SILENT_p.P214P/TNFRSF18_ENST00000328596.6_MISSENSE_p.P151L/TNFRSF18_ENST00000486728.1_SILENT_p.P149P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398_%2C_._%2C_.|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199916456|1139287|false|false|0|false|0|true|0.999863_%2C_0.000103029_%2C_3.4343e-005_%2C_.|false|false|false|SNV|true|0x050000000b05040436000100|1|false|137|rs199916456] chr1 1139308 exm1693 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139308|1139308|SILENT||SNP|G|G|A|g.chr1:1139308G>A|ENST00000379268.2|-|5|762|c.642C>T|c.(640-642)gaC>gaT|p.D214D|0.7082294264339152|AGCTTCTGGCGTCTTCGGTCG|TNFRSF18_ENST00000379265.5_SILENT_p.D207D/TNFRSF18_ENST00000328596.6_MISSENSE_p.T144M/TNFRSF18_ENST00000486728.1_SILENT_p.D142D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201894449|1139308|false|false|0|false|0|true|0.999863_%2C_0.000137372_%2C_.|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs201894449] chr1 1139320 exm1695 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139320|1139320|SILENT||SNP|C|C|T|g.chr1:1139320C>T|ENST00000379268.2|-|5|750|c.630G>A|c.(628-630)ccG>ccA|p.P210P|0.7107231920199502|CTTCGGTCGACGGCGGCACCT|TNFRSF18_ENST00000379265.5_SILENT_p.P203P/TNFRSF18_ENST00000328596.6_MISSENSE_p.R140H/TNFRSF18_ENST00000486728.1_SILENT_p.P138P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|TNFRSF18:8784|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200096730|1139320|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200096730] -chr1 1141765 exm1730 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1141765|1141765|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1141765C>T|ENST00000379268.2|-|1|307|c.187G>A|c.(187-189)Ggc>Agc|p.G63S|0.7107231920199502|GTTTACTTACCCGGGTAATCG|TNFRSF18_ENST00000379265.5_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000328596.6_SPLICE_SITE_p.G63S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9976_%2C_0.002396|false|false|1||false|false|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894038|1141765|false|false|0|false|0|false|0.99684_%2C_0.00315956|false|false|false|SNV|true|0x050000000a0504053e000100|1|false|130|rs72894038] +chr1 1141765 exm1730 C T . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1141765|1141765|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1141765C>T|ENST00000379268.2|-|1|307|c.187G>A|c.(187-189)Ggc>Agc|p.G63S|0.7107231920199502|GTTTACTTACCCGGGTAATCG|TNFRSF18_ENST00000379265.5_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000328596.6_SPLICE_SITE_p.G63S/TNFRSF18_ENST00000486728.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9976_%2C_0.002396|false|false|1||false|false|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894038|1141765|false|false|0|false|0|false|0.99684_%2C_0.00315956|false|false|false|SNV|true|0x050000000a0504053e000100|1|false|130|rs72894038] chr1 1153073 exm1702568 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1153073|1153073|INTRON||SNP|G|G|A|g.chr1:1153073G>A|ENST00000360001.6|-|||c.e7+5C>T|||0.6583541147132169|GTAGCTCTGCGGGCGAGCGGG|SDF4_ENST00000263741.7_MISSENSE_p.R342C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199825378|1153073|false|false|0|true|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050100080a05040436000100|1|false|137|rs199825378] chr1 1153099 exm1829 G A . PASS FUNCOTATION=[SDF4|hg19|chr1|1153099|1153099|INTRON||SNP|G|G|A|g.chr1:1153099G>A|ENST00000360001.6|-|||c.e7+31C>T|||0.6483790523690773|GGTCAGCGTCGCCTTTCCCCC|SDF4_ENST00000263741.7_MISSENSE_p.A333V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SDF4:51150|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139298872|1153099|false|false|0|false|0|false|0.999073_%2C_0.000927261|false|false|false|SNV|true|0x050000080a05040426000100|1|false|134|rs139298872] chr1 1153129 exm1832 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1153129|1153129|INTRON||SNP|C|C|T|g.chr1:1153129C>T|ENST00000360001.6|-|||c.e7+61G>A|||0.6408977556109726|CGCGGCCAGCCGCACGAAGTG|SDF4_ENST00000263741.7_MISSENSE_p.R323Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9946_%2C_0.005391|false|false|1||false|false|false|SDF4:51150|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|72894044|1153129|false|false|0|true|0|false|0.993028_%2C_0.00697163|false|false|false|SNV|true|0x050100080a0504053e000100|1|false|130|rs72894044] @@ -380,9 +380,9 @@ chr1 1178442 exm1949 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178442|1178442|S chr1 1178848 exm1965 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664] chr1 1179619 exm1987 C A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650] chr1 1179762 exm1992 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179762|1179762|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1179762G>A|ENST00000330388.2|-|2|325|c.293C>T|c.(292-294)cCg>cTg|p.P98L|0.6708229426433915|GGGGCTCACCGGCTTCTTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149663992|1179762|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs149663992] -chr1 1203938 rs4018608 T C . PASS FUNCOTATION=[UBE2J2|hg19|chr1|1203938|1203938|INTRON||SNP|T|T|C|g.chr1:1203938T>C|ENST00000400930.4|-|||c.e2+566A>G|||0.5985037406483791|AGGCACTCACTGGGCAGAGCA|UBE2J2_ENST00000349431.6_INTRON/UBE2J2_ENST00000400929.2_INTRON/UBE2J2_ENST00000360466.2_INTRON/UBE2J2_ENST00000347370.2_INTRON/UBE2J2_ENST00000348298.7_INTRON/UBE2J2_ENST00000491779.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[RP5-902P8.10|hg19|chr1|1211292|1211292|LINCRNA||SNP|C|C|T|g.chr1:1211292C>T|ENST00000453732.1|+|||c.e1+613C>T|||0.44389027431421446|ATGTTATAGGCAGATTCAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064] -chr1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715] +chr1 1203938 rs4018608 T C . PASS FUNCOTATION=[UBE2J2|hg19|chr1|1203938|1203938|INTRON||SNP|T|T|C|g.chr1:1203938T>C|ENST00000400930.4|-|||c.e2+566A>G|||0.5985037406483791|AGGCACTCACTGGGCAGAGCA|UBE2J2_ENST00000349431.6_INTRON/UBE2J2_ENST00000400929.2_INTRON/UBE2J2_ENST00000360466.2_INTRON/UBE2J2_ENST00000347370.2_INTRON/UBE2J2_ENST00000348298.7_INTRON/UBE2J2_ENST00000339385.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000491779.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064] +chr1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000325425.8_FIVE_PRIME_FLANK/SCNN1D_ENST00000400928.3_FIVE_PRIME_FLANK/SCNN1D_ENST00000467651.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715] chr1 1219456 exm2067 G C . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219456|1219456|SILENT||SNP|G|G|C|g.chr1:1219456G>C|ENST00000379116.5|+|5|676|c.450G>C|c.(448-450)ggG>ggC|p.G150G|0.685785536159601|CACACGGGGGGGCTCTCACCT|SCNN1D_ENST00000338555.2_MISSENSE_p.G18R/SCNN1D_ENST00000325425.8_SILENT_p.G52G/SCNN1D_ENST00000400928.3_MISSENSE_p.G18R/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|199854533|1219456|false|false|0|false|0|true|0.999347_%2C_0.000653101|false|false|false|SNV|true|0x050000000305040426000100|1|false|137|rs199854533] chr1 1220954 exm2070 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1220954|1220954|SILENT||SNP|G|G|A|g.chr1:1220954G>A|ENST00000379116.5|+|6|694|c.468G>A|c.(466-468)tcG>tcA|p.S156S|0.6458852867830424|TGGGTAGATCGCCTGGGCCTG|SCNN1D_ENST00000325425.8_SILENT_p.S58S/SCNN1D_ENST00000338555.2_INTRON/SCNN1D_ENST00000400928.3_INTRON/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5573_%2C_0.4427|false|false|1||false|true|false|SCNN1D:6339|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|12751100|1220954|false|false|0|true|0|true|0.668315_%2C_0.331685|false|false|false|SNV|true|0x05010008030515053e000100|1|false|121|rs12751100] chr1 1221530 exm2090 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1221530|1221530|SILENT||SNP|C|C|T|g.chr1:1221530C>T|ENST00000379116.5|+|7|1009|c.783C>T|c.(781-783)gtC>gtT|p.V261V|0.6932668329177057|GAGCCCTGGTCGCGCTCTGCT|SCNN1D_ENST00000338555.2_SILENT_p.V97V/SCNN1D_ENST00000325425.8_SILENT_p.V163V/SCNN1D_ENST00000400928.3_SILENT_p.V97V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_._%2C_0.0009984|false|false|0||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|146792102|1221530|false|true|0|false|0|true|0.998798_%2C_._%2C_0.00120209|false|false|false|SNV|true|0x050200000305040436000100|1|false|134|rs146792102] @@ -393,56 +393,56 @@ chr1 1222596 exm2135 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222596|1222596|SI chr1 1226777 exm2258 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1226777|1226777|SILENT||SNP|G|G|A|g.chr1:1226777G>A|ENST00000379116.5|+|18|2422|c.2196G>A|c.(2194-2196)gcG>gcA|p.A732A|0.7082294264339152|TCCGCAGGGCGTGGTTCTCCT|SCNN1D_ENST00000338555.2_SILENT_p.A568A/SCNN1D_ENST00000325425.8_SILENT_p.A634A/SCNN1D_ENST00000400928.3_SILENT_p.A568A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SCNN1D:6339|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201221572|1226777|false|false|0|false|0|true|0.99976_%2C_0.000240418|false|false|false|SNV|true|0x050000000305040402000100|1|false|137|rs201221572] chr1 1226867 exm2267 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1226867|1226867|SILENT||SNP|G|G|A|g.chr1:1226867G>A|ENST00000379116.5|+|18|2512|c.2286G>A|c.(2284-2286)acG>acA|p.T762T|0.683291770573566|CAGGCGGCACGTCAGATGACC|SCNN1D_ENST00000338555.2_SILENT_p.T598T/SCNN1D_ENST00000325425.8_SILENT_p.T664T/SCNN1D_ENST00000400928.3_SILENT_p.T598T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200302126|1226867|false|false|0|false|0|true|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050000000305040426000100|1|false|137|rs200302126] chr1 1227897 rs3737721 A G . PASS FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721] -chr1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246068 variant.153 G T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246068|1246068|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:1246068G>T|ENST00000379031.5|+|6|776|c.699G>T|c.(697-699)caG>caT|p.Q233H|0.6259351620947631|TGTATAGACAGGTAGGCTCTG|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1246451 newrs140444081 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246451|1246451|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1246451G>A|ENST00000379031.5|+|7|939|c.862G>A|c.(862-864)Ggt>Agt|p.G288S|0.6533665835411472|CGGGAACCTCGGTAAGAAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1247626 exm2249776 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247626|1247626|SILENT||SNP|G|G|A|g.chr1:1247626G>A|ENST00000435064.1|-|15|1670|c.1587C>T|c.(1585-1587)cgC>cgT|p.R529R|0.6783042394014963|GGCTGTAGACGCGCAATGCCG|CPSF3L_ENST00000421495.2_SILENT_p.R271R/CPSF3L_ENST00000450926.2_SILENT_p.R507R/CPSF3L_ENST00000411962.1_SILENT_p.R431R/CPSF3L_ENST00000419704.1_SILENT_p.R428R/CPSF3L_ENST00000540437.1_SILENT_p.R535R/CPSF3L_ENST00000545578.1_SILENT_p.R500R/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201688337|1247626|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040426000100|1|false|137|rs201688337] -chr1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722] -chr1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722] -chr1 1247826 exm2249777 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247826|1247826|SILENT||SNP|C|C|T|g.chr1:1247826C>T|ENST00000435064.1|-|14|1541|c.1458G>A|c.(1456-1458)aaG>aaA|p.K486K|0.6733167082294265|TCACGCTGTCCTTCATGATCA|CPSF3L_ENST00000421495.2_SILENT_p.K228K/CPSF3L_ENST00000450926.2_SILENT_p.K464K/CPSF3L_ENST00000411962.1_SILENT_p.K388K/CPSF3L_ENST00000419704.1_SILENT_p.K385K/CPSF3L_ENST00000540437.1_SILENT_p.K492K/CPSF3L_ENST00000545578.1_SILENT_p.K457K/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|202118836|1247826|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|137|rs202118836] -chr1 1248046 exm2249779 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248046|1248046|SILENT||SNP|C|C|T|g.chr1:1248046C>T|ENST00000435064.1|-|13|1412|c.1329G>A|c.(1327-1329)acG>acA|p.T443T|0.6907730673316709|GCAGCGTCACCGTCTCGCCAT|CPSF3L_ENST00000421495.2_SILENT_p.T185T/CPSF3L_ENST00000450926.2_SILENT_p.T421T/CPSF3L_ENST00000411962.1_SILENT_p.T345T/CPSF3L_ENST00000419704.1_SILENT_p.T342T/CPSF3L_ENST00000540437.1_SILENT_p.T449T/CPSF3L_ENST00000545578.1_SILENT_p.T414T/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|147953341|1248046|false|true|0|false|0|true|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050200020305040426000100|1|false|134|rs147953341] -chr1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163] -chr1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163] +chr1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246013 exm2497 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246013 newrs143765035 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246013|1246013|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246013G>A|ENST00000379031.5|+|||c.e6-1G>A|c.e6-1||0.6109725685785536|TATTTTTCCAGGAAGCTGCGG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246068 variant.153 G T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246068|1246068|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:1246068G>T|ENST00000379031.5|+|6|776|c.699G>T|c.(697-699)caG>caT|p.Q233H|0.6259351620947631|TGTATAGACAGGTAGGCTCTG|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246069 variant.154 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246069|1246069|SPLICE_SITE|INTRON|SNP|G|G|A|g.chr1:1246069G>A|ENST00000379031.5|+|||c.e6+1G>A|c.e6+1||0.6259351620947631|GTATAGACAGGTAGGCTCTGT|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/PUSL1_ENST00000470520.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246450 exm2520 C T . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246450|1246450|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1246450C>T|ENST00000379031.5|+|7|938|c.861C>T|c.(859-861)ctC>ctT|p.L287L|0.655860349127182|ACGGGAACCTCGGTAAGAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1246451 newrs140444081 G A . PASS FUNCOTATION=[PUSL1|hg19|chr1|1246451|1246451|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1246451G>A|ENST00000379031.5|+|7|939|c.862G>A|c.(862-864)Ggt>Agt|p.G288S|0.6533665835411472|CGGGAACCTCGGTAAGAAAAA|ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1247626 exm2249776 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247626|1247626|SILENT||SNP|G|G|A|g.chr1:1247626G>A|ENST00000435064.1|-|15|1670|c.1587C>T|c.(1585-1587)cgC>cgT|p.R529R|0.6783042394014963|GGCTGTAGACGCGCAATGCCG|CPSF3L_ENST00000421495.2_SILENT_p.R271R/CPSF3L_ENST00000450926.2_SILENT_p.R507R/CPSF3L_ENST00000411962.1_SILENT_p.R431R/CPSF3L_ENST00000419704.1_SILENT_p.R428R/CPSF3L_ENST00000540437.1_SILENT_p.R535R/CPSF3L_ENST00000545578.1_SILENT_p.R500R/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201688337|1247626|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040426000100|1|false|137|rs201688337] +chr1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722] +chr1 1247820 exm2562 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247820|1247820|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1247820G>A|ENST00000435064.1|-|14|1547|c.1464C>T|c.(1462-1464)agC>agT|p.S488S|0.6708229426433915|TGGCACTCACGCTGTCCTTCA|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.S230S/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.S466S/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.S390S/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.S387S/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.S494S/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.S459S/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|148274722|1247820|false|false|0|false|0|true|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|134|rs148274722] +chr1 1247826 exm2249777 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1247826|1247826|SILENT||SNP|C|C|T|g.chr1:1247826C>T|ENST00000435064.1|-|14|1541|c.1458G>A|c.(1456-1458)aaG>aaA|p.K486K|0.6733167082294265|TCACGCTGTCCTTCATGATCA|CPSF3L_ENST00000421495.2_SILENT_p.K228K/CPSF3L_ENST00000450926.2_SILENT_p.K464K/CPSF3L_ENST00000411962.1_SILENT_p.K388K/CPSF3L_ENST00000419704.1_SILENT_p.K385K/CPSF3L_ENST00000540437.1_SILENT_p.K492K/CPSF3L_ENST00000545578.1_SILENT_p.K457K/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|202118836|1247826|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x0500000c0305040402000100|1|false|137|rs202118836] +chr1 1248046 exm2249779 C T . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248046|1248046|SILENT||SNP|C|C|T|g.chr1:1248046C>T|ENST00000435064.1|-|13|1412|c.1329G>A|c.(1327-1329)acG>acA|p.T443T|0.6907730673316709|GCAGCGTCACCGTCTCGCCAT|CPSF3L_ENST00000421495.2_SILENT_p.T185T/CPSF3L_ENST00000450926.2_SILENT_p.T421T/CPSF3L_ENST00000411962.1_SILENT_p.T345T/CPSF3L_ENST00000419704.1_SILENT_p.T342T/CPSF3L_ENST00000540437.1_SILENT_p.T449T/CPSF3L_ENST00000545578.1_SILENT_p.T414T/ACAP3_ENST00000353662.3_FIVE_PRIME_FLANK/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|147953341|1248046|false|true|0|false|0|true|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050200020305040426000100|1|false|134|rs147953341] +chr1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163] +chr1 1248329 exm2590 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1248329|1248329|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1248329G>A|ENST00000435064.1|-|12|1215|c.1132C>T|c.(1132-1134)Ctg>Ttg|p.L378L|0.6683291770573566|TTGACCTCCAGCTACAGAGGC|CPSF3L_ENST00000421495.2_SPLICE_SITE_p.L120L/CPSF3L_ENST00000450926.2_SPLICE_SITE_p.L356L/CPSF3L_ENST00000411962.1_SPLICE_SITE_p.L280L/CPSF3L_ENST00000419704.1_SPLICE_SITE_p.L277L/CPSF3L_ENST00000540437.1_SPLICE_SITE_p.L384L/CPSF3L_ENST00000545578.1_SPLICE_SITE_p.L349L/ACAP3_ENST00000354700.5_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|56104163|1248329|false|true|0|true|0|true|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050300020305040436000100|1|false|129|rs56104163] chr1 1249193 indel.166 C CGCAA . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074] chr1 1250794 variant.168 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769] -chr1 1254255 psy_rs62623580 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254255|1254255|INTRON||SNP|G|G|A|g.chr1:1254255G>A|ENST00000435064.1|-|||c.e4-421C>T|||0.49875311720698257|CTTCTTCCCTGACCCACACCC|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9373_%2C_0.0627|false|false|1||false|true|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|62623580|1254255|true|false|0|true|0|false|0.946974_%2C_0.0530256|false|false|false|SNV|true|0x0501000a0005150436000100|1|false|129|rs62623580] -chr1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309] -chr1 1254694 exm2249782 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254694|1254694|SILENT||SNP|G|G|A|g.chr1:1254694G>A|ENST00000435064.1|-|4|494|c.411C>T|c.(409-411)caC>caT|p.H137H|0.628428927680798|TCTGGTGGAGGTGGACAGCCA|CPSF3L_ENST00000450926.2_SILENT_p.H137H/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_SILENT_p.H143H/CPSF3L_ENST00000545578.1_SILENT_p.H108H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|145964828|1254694|false|true|0|false|0|true||false|false|false|SNV|true|0x0502000a0305040402000100|1|false|134|rs145964828] -chr1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230] -chr1 1258246 rs3845293 A C . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1258246|1258246|INTRON||SNP|A|A|C|g.chr1:1258246A>C|ENST00000435064.1|-|||c.e1-1715T>G|||0.6359102244389028|GGAAGCGGTGAAACAGGACTT|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2829_%2C_0.7171_%2C_.|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3845293|1258246|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a0005170537000100|1|false|108|rs3845293] -chr1 1264539 rs307354 G C . PASS FUNCOTATION=[Unknown|hg19|chr1|1264539|1264539|IGR||SNP|G|G|C|g.chr1:1264539G>C|no_transcript|||||||0.6059850374064838|ACAAGAGAGAGACAGAGTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1254255 psy_rs62623580 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254255|1254255|INTRON||SNP|G|G|A|g.chr1:1254255G>A|ENST00000435064.1|-|||c.e4-421C>T|||0.49875311720698257|CTTCTTCCCTGACCCACACCC|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9373_%2C_0.0627|false|false|1||false|true|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|62623580|1254255|true|false|0|true|0|false|0.946974_%2C_0.0530256|false|false|false|SNV|true|0x0501000a0005150436000100|1|false|129|rs62623580] +chr1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309] +chr1 1254694 exm2249782 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254694|1254694|SILENT||SNP|G|G|A|g.chr1:1254694G>A|ENST00000435064.1|-|4|494|c.411C>T|c.(409-411)caC>caT|p.H137H|0.628428927680798|TCTGGTGGAGGTGGACAGCCA|CPSF3L_ENST00000450926.2_SILENT_p.H137H/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_SILENT_p.H143H/CPSF3L_ENST00000545578.1_SILENT_p.H108H/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|145964828|1254694|false|true|0|false|0|true||false|false|false|SNV|true|0x0502000a0305040402000100|1|false|134|rs145964828] +chr1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230] +chr1 1258246 rs3845293 A C . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1258246|1258246|INTRON||SNP|A|A|C|g.chr1:1258246A>C|ENST00000435064.1|-|||c.e1-1715T>G|||0.6359102244389028|GGAAGCGGTGAAACAGGACTT|CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000450926.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_INTRON/CPSF3L_ENST00000545578.1_INTRON/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2829_%2C_0.7171_%2C_.|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3845293|1258246|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a0005170537000100|1|false|108|rs3845293] +chr1 1264539 rs307354 G C . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1264539|1264539|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:1264539G>C|ENST00000411962.1|-||||||0.6059850374064838|ACAAGAGAGAGACAGAGTCAC|CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1275882 exm3075 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1275882|1275882|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1275882G>A|ENST00000378888.5|-|6|892|c.607C>T|c.(607-609)Ctc>Ttc|p.L203F|0.6334164588528678|GAGCTGCTGAGCCTGGGAACA|DVL1_ENST00000378891.5_SPLICE_SITE_p.L203F|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987_%2C_.|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|148942048|1275882|false|false|0|false|0|false|0.998901_%2C_0.00106463_%2C_3.4343e-005|false|false|false|SNV|true|0x050000020a05040436000100|1|false|134|rs148942048] chr1 1275883 exm3076 C T . PASS FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544] chr1 1275883 exm3076 C T . PASS FUNCOTATION=[DVL1|hg19|chr1|1275883|1275883|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1275883C>T|ENST00000378888.5|-|6|891|c.606G>A|c.(604-606)agG>agA|p.R202R|0.6334164588528678|AGCTGCTGAGCCTGGGAACAG|DVL1_ENST00000378891.5_SPLICE_SITE_p.R202R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|MIR6808:102466740_%7C_DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|143175544|1275883|false|false|0|false|0|true|0.999038_%2C_0.000961605|false|false|false|SNV|true|0x050000020305040436000100|1|false|134|rs143175544] chr1 1277184 exm1707125 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1277184G>A|ENST00000378888.5|-|5|753|c.468C>T|c.(466-468)gcC>gcT|p.A156A|0.6408977556109726|TGGTCCGGGCGGCTGTGGGGG|DVL1_ENST00000378891.5_SPLICE_SITE_p.A156A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201343862|1277184|false|false|0|false|0|true||false|false|false|SNV|true|0x050000000305040436000100|1|false|137|rs201343862] chr1 1277184 exm1707125 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1277184|1277184|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:1277184G>A|ENST00000378888.5|-|5|753|c.468C>T|c.(466-468)gcC>gcT|p.A156A|0.6408977556109726|TGGTCCGGGCGGCTGTGGGGG|DVL1_ENST00000378891.5_SPLICE_SITE_p.A156A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|DVL1:1855|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201343862|1277184|false|false|0|false|0|true||false|false|false|SNV|true|0x050000000305040436000100|1|false|137|rs201343862] -chr1 1287127 rs307380 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1287127|1287127|IGR||SNP|G|G|A|g.chr1:1287127G>A|no_transcript|||||||0.6508728179551122|AGCCAGGCAGGAAGACCTAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1287127 rs307380 G A . PASS FUNCOTATION=[DVL1|hg19|chr1|1287127|1287127|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1287127G>A|ENST00000378888.5|-||||||0.6508728179551122|AGCCAGGCAGGAAGACCTAAG|DVL1_ENST00000378891.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1305561 rs17160669 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1305561|1305561|IGR||SNP|C|C|T|g.chr1:1305561C>T|no_transcript|||||||0.5211970074812967|CATGGCTTCCCGGCAAGTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1309583 exm3225 G A . PASS FUNCOTATION=[AURKAIP1|hg19|chr1|1309583|1309583|NONSENSE||SNP|G|G|A|g.chr1:1309583G>A|ENST00000338370.3|-|2|696|c.295C>T|c.(295-297)Caa>Taa|p.Q99*|0.6533665835411472|TGGTAGGATTGCGGTGGAGCC|AURKAIP1_ENST00000338338.5_NONSENSE_p.Q99*/AURKAIP1_ENST00000378853.3_NONSENSE_p.Q99*/AURKAIP1_ENST00000321751.5_NONSENSE_p.Q99*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1335302 rs1240707 C T . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335302|1335302|INTRON||SNP|C|C|T|g.chr1:1335302C>T|ENST00000448629.2|+|||c.e1+233C>T|||0.655860349127182|AACACTCAGCCCCTGGGGAGA|RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000576232.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1335790 rs1240708 A G . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335790|1335790|INTRON||SNP|A|A|G|g.chr1:1335790A>G|ENST00000448629.2|+|||c.e2+107A>G|||0.5760598503740648|AGCTGCCAGTAACTGCCCAGC|RP4-758J18.2_ENST00000576232.1_THREE_PRIME_UTR/RP4-758J18.2_ENST00000444362.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1335302 rs1240707 C T . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335302|1335302|INTRON||SNP|C|C|T|g.chr1:1335302C>T|ENST00000448629.2|+|||c.e1+233C>T|||0.655860349127182|AACACTCAGCCCCTGGGGAGA|RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000576232.1_INTRON/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1335790 rs1240708 A G . PASS FUNCOTATION=[RP4-758J18.2|hg19|chr1|1335790|1335790|INTRON||SNP|A|A|G|g.chr1:1335790A>G|ENST00000448629.2|+|||c.e2+107A>G|||0.5760598503740648|AGCTGCCAGTAACTGCCCAGC|RP4-758J18.2_ENST00000576232.1_THREE_PRIME_UTR/RP4-758J18.2_ENST00000444362.1_INTRON/RP4-758J18.2_ENST00000453521.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1341171 variant.210 C T . PASS FUNCOTATION=[MRPL20|hg19|chr1|1341171|1341171|INTRON||SNP|C|C|T|g.chr1:1341171C>T|ENST00000344843.7|-|||c.e3-18G>A|||0.4513715710723192|TCAGTGGGACCCACATACTCA|MRPL20_ENST00000482352.1_NONSENSE_p.W98*/MRPL20_ENST00000493287.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1354515 exm3350 C G . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354515|1354515|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:1354515C>G|ENST00000520296.1|-|3|||||0.6683291770573566|CACTCCTTCTCCCCCCCTCCA|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.E389Q/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1354538 exm3352 G A . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354538|1354538|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1354538G>A|ENST00000520296.1|-|3|||||0.6708229426433915|TTCAGGCAGCGCCTGGGGCAG|ANKRD65_ENST00000427211.1_THREE_PRIME_UTR/ANKRD65_ENST00000442470.1_THREE_PRIME_UTR/ANKRD65_ENST00000537107.1_MISSENSE_p.A381V/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1354844 exm3367 C T . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354844|1354844|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:1354844C>T|ENST00000520296.1|-|3|||||0.6882793017456359|CAGGTGTCCTCGGGCGGCAGC|ANKRD65_ENST00000427211.1_MISSENSE_p.E99K/ANKRD65_ENST00000442470.1_MISSENSE_p.E99K/ANKRD65_ENST00000537107.1_MISSENSE_p.R279Q/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1354920 exm3369 C A . PASS FUNCOTATION=[ANKRD65|hg19|chr1|1354920|1354920|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:1354920C>A|ENST00000520296.1|-|3|||||0.6658354114713217|CCCAGCAGCACCTCAATGTCC|ANKRD65_ENST00000427211.1_MISSENSE_p.R73S/ANKRD65_ENST00000442470.1_MISSENSE_p.R73S/ANKRD65_ENST00000537107.1_MISSENSE_p.V254L/ANKRD65_ENST00000454272.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1366830 rs873927 A G . PASS FUNCOTATION=[RP4-758J18.10|hg19|chr1|1366830|1366830|LINCRNA||SNP|A|A|G|g.chr1:1366830A>G|ENST00000417917.1|-|||c.e2+496T>C|||0.6633416458852868|CCACTTCAGGACCCTGGGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927] -chr1 1372743 exm3425 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372743|1372743|SILENT||SNP|C|C|T|g.chr1:1372743C>T|ENST00000476993.1|+|2|588|c.510C>T|c.(508-510)acC>acT|p.T170T|0.6334164588528678|TTGTCAGCACCGGCCGAGGCA|VWA1_ENST00000338660.5_MISSENSE_p.R39W/VWA1_ENST00000404702.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1372773 exm3429 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372773|1372773|SILENT||SNP|C|C|T|g.chr1:1372773C>T|ENST00000476993.1|+|2|618|c.540C>T|c.(538-540)gcC>gcT|p.A180A|0.6384039900249376|AGCTGTCAGCCGCTGCCTCAG|VWA1_ENST00000338660.5_MISSENSE_p.R49C/VWA1_ENST00000404702.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1366830 rs873927 A G . PASS FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927] +chr1 1372743 exm3425 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372743|1372743|SILENT||SNP|C|C|T|g.chr1:1372743C>T|ENST00000476993.1|+|2|588|c.510C>T|c.(508-510)acC>acT|p.T170T|0.6334164588528678|TTGTCAGCACCGGCCGAGGCA|VWA1_ENST00000338660.5_MISSENSE_p.R39W/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1372773 exm3429 C T . PASS FUNCOTATION=[VWA1|hg19|chr1|1372773|1372773|SILENT||SNP|C|C|T|g.chr1:1372773C>T|ENST00000476993.1|+|2|618|c.540C>T|c.(538-540)gcC>gcT|p.A180A|0.6384039900249376|AGCTGTCAGCCGCTGCCTCAG|VWA1_ENST00000338660.5_MISSENSE_p.R49C/VWA1_ENST00000404702.3_FIVE_PRIME_UTR/RP4-758J18.10_ENST00000417917.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1388268 rs36044796 C A . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1388268|1388268|INTRON||SNP|C|C|A|g.chr1:1388268C>A|ENST00000378785.2|+|||c.e3+454C>A|||0.5386533665835411|CCTCAGAAAACCCTGAGAGTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1396296 exm3518 C T . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1396296|1396296|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:1396296C>T|ENST00000378785.2|+|10|1974|c.979C>T|c.(979-981)Cgg>Tgg|p.R327W|0.6508728179551122|AGAAGGAAAGCGGTAAGTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1396297 variant.222 G A . PASS FUNCOTATION=[ATAD3C|hg19|chr1|1396297|1396297|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:1396297G>A|ENST00000378785.2|+|10|1975|c.980G>A|c.(979-981)cGg>cAg|p.R327Q|0.6483790523690773|GAAGGAAAGCGGTAAGTGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1425658 exm2249844 C T . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1425658|1425658|SILENT||SNP|C|C|T|g.chr1:1425658C>T|ENST00000308647.7|+|14|1475|c.1359C>T|c.(1357-1359)agC>agT|p.S453S|0.6109725685785536|TCCTGGCCAGCAATCTGCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1425700 rs819980 T C . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1425700|1425700|SILENT||SNP|T|T|C|g.chr1:1425700T>C|ENST00000308647.7|+|14|1517|c.1401T>C|c.(1399-1401)atT>atC|p.I467I|0.6034912718204489|ACAGCCGCATTGACGTGATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1430993 exm2249851 C T . PASS FUNCOTATION=[ATAD3B|hg19|chr1|1430993|1430993|SILENT||SNP|C|C|T|g.chr1:1430993C>T|ENST00000308647.7|+|16|1859|c.1743C>T|c.(1741-1743)gtC>gtT|p.V581V|0.6608478802992519|GGCGCGGGGTCGAGCACCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1447325 rs6690515 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1447325|1447325|IGR||SNP|G|G|A|g.chr1:1447325G>A|no_transcript|||||||0.6932668329177057|GGCTGACGCTGCCTTGGGTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1447325 rs6690515 G A . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1447325|1447325|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1447325G>A|ENST00000378755.5|+||||||0.6932668329177057|GGCTGACGCTGCCTTGGGTTC|ATAD3A_ENST00000378756.3_FIVE_PRIME_FLANK/ATAD3A_ENST00000536055.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1450947 rs6669795 A C . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1450947|1450947|INTRON||SNP|A|A|C|g.chr1:1450947A>C|ENST00000378756.3|+|||c.e2-445A>C|||0.46633416458852867|TGTCCTCGTCACCCTGAGCTT|ATAD3A_ENST00000378755.5_INTRON/ATAD3A_ENST00000536055.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1460671 exm3851 C T . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1460671|1460671|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1460671C>T|ENST00000378756.3|+|12|1384|c.1266C>T|c.(1264-1266)acC>acT|p.T422T|0.5810473815461347|AGCGAGCCACCGTGAGTGTCA|ATAD3A_ENST00000378755.5_SPLICE_SITE_p.T470T/ATAD3A_ENST00000536055.1_SPLICE_SITE_p.T343T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1460671 exm3851 C T . PASS FUNCOTATION=[ATAD3A|hg19|chr1|1460671|1460671|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1460671C>T|ENST00000378756.3|+|12|1384|c.1266C>T|c.(1264-1266)acC>acT|p.T422T|0.5810473815461347|AGCGAGCCACCGTGAGTGTCA|ATAD3A_ENST00000378755.5_SPLICE_SITE_p.T470T/ATAD3A_ENST00000536055.1_SPLICE_SITE_p.T343T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -451,7 +451,7 @@ chr1 1474167 rs1571149 A G . PASS FUNCOTATION=[TMEM240|hg19|chr1|1474167|1474167 chr1 1485984 rs2031709 C A . PASS FUNCOTATION=[SSU72|hg19|chr1|1485984|1485984|INTRON||SNP|C|C|A|g.chr1:1485984C>A|ENST00000291386.3|-|||c.e3+5602G>T|||0.6209476309226932|GCTGGCCCCCCTCAAGTGCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1489670 rs7531530 C T . PASS FUNCOTATION=[SSU72|hg19|chr1|1489670|1489670|INTRON||SNP|C|C|T|g.chr1:1489670C>T|ENST00000291386.3|-|||c.e3+9288G>A|||0.6384039900249376|GAGCACGAGACGGATCCGGAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1521595 rs6604983 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1521595|1521595|IGR||SNP|A|A|G|g.chr1:1521595A>G|no_transcript|||||||0.5461346633416458|CGAAGAGGACAGCCAGAAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261] +chr1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261] chr1 1560103 rs28635343 C T . PASS FUNCOTATION=[MIB2|hg19|chr1|1560103|1560103|INTRON||SNP|C|C|T|g.chr1:1560103C>T|ENST00000505820.2|+|||c.e5-72C>T|||0.6433915211970075|CTGCATCGCTCTCCCAAGTGG|MIB2_ENST00000520777.1_INTRON/MIB2_ENST00000504599.1_INTRON/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_INTRON/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_INTRON/MIB2_ENST00000360522.4_INTRON/MIB2_ENST00000378710.3_INTRON/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7596_%2C_0.2404|false|false|1||false|true|true|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28635343|1560103|false|false|0|true|0|false|0.816265_%2C_0.183735|false|false|false|SNV|true|0x050100080005170536000100|1|false|125|rs28635343] chr1 1562786 exm2250001 C T . PASS FUNCOTATION=[MIB2|hg19|chr1|1562786|1562786|SILENT||SNP|C|C|T|g.chr1:1562786C>T|ENST00000505820.2|+|12|1847|c.1830C>T|c.(1828-1830)gaC>gaT|p.D610D|0.71571072319202|ACCTGCCGGACGACGAGGGCA|MIB2_ENST00000520777.1_SILENT_p.D606D/MIB2_ENST00000504599.1_SILENT_p.D509D/MIB2_ENST00000355826.5_SILENT_p.D596D/MIB2_ENST00000378708.1_SILENT_p.D459D/MIB2_ENST00000518681.1_SILENT_p.D545D/MIB2_ENST00000378712.1_SILENT_p.D430D/MIB2_ENST00000357210.4_SILENT_p.D553D/MIB2_ENST00000360522.4_SILENT_p.D518D/MIB2_ENST00000378710.3_SILENT_p.D517D|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.992_%2C_0.007987|false|false|1||false|false|false|MIB2:142678|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|75855249|1562786|false|true|0|true|0|true|0.981249_%2C_0.0187513|false|false|false|SNV|true|0x050300000305040436000100|1|false|131|rs75855249] chr1 1565032 exm4160 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1565032|1565032|SILENT||SNP|G|G|A|g.chr1:1565032G>A|ENST00000505820.2|+|19|2939|c.2922G>A|c.(2920-2922)agG>agA|p.R974R|0.713216957605985|GCGCGCGCAGGATGAAGAAGT|MIB2_ENST00000520777.1_SILENT_p.R970R/MIB2_ENST00000504599.1_SILENT_p.R873R/MIB2_ENST00000355826.5_SILENT_p.R960R/MIB2_ENST00000378708.1_SILENT_p.R823R/MIB2_ENST00000378712.1_MISSENSE_p.D734N/MIB2_ENST00000518681.1_SILENT_p.R909R/MIB2_ENST00000357210.4_SILENT_p.R917R/MIB2_ENST00000360522.4_SILENT_p.R882R/MIB2_ENST00000378710.3_SILENT_p.R881R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200777664|1565032|false|false|0|false|0|true|0.99945_%2C_0.000549526|false|false|false|SNV|true|0x050000000b05040426000100|1|false|137|rs200777664] @@ -470,13 +470,13 @@ chr1 1663831 rs3817856 C T . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1663831|1663831 chr1 1663944 exm4428 G A . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1663944|1663944|INTRON||SNP|G|G|A|g.chr1:1663944G>A|ENST00000355439.2|-|||c.e6-2185C>T|||0.571072319201995|AAGGCGACTCGGTGCAGGGCC|SLC35E2_ENST00000246421.4_NONSENSE_p.R251*/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|LOC101928920:101928920_%7C_SLC35E2:9906|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|146969326|1663944|false|false|0|false|0|false|0.998589_%2C_0.00141058|false|false|false|SNV|true|0x0500000a0605040436000100|1|false|134|rs146969326] chr1 1664019 rs2294488 T C . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1664019|1664019|INTRON||SNP|T|T|C|g.chr1:1664019T>C|ENST00000355439.2|-|||c.e6-2110A>G|||0.5610972568578554|GCTGCGTGCGTGGTGCACAGC|SLC35E2_ENST00000246421.4_INTRON/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3131_%2C_0.6869|false|false|1||false|true|true|LOC101928920:101928920_%7C_SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|2294488|1664019|false|false|0|true|0|false||false|false|false|SNV|true|0x0501000a000517053f000100|1|false|100|rs2294488] chr1 1664124 exm2268858 T C . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1664124|1664124|INTRON||SNP|T|T|C|g.chr1:1664124T>C|ENST00000355439.2|-|||c.e6-2005A>G|||0.5386533665835411|TGTCCACCATTCCCGCCAGCC|SLC35E2_ENST00000246421.4_INTRON/SLC35E2_ENST00000400924.1_INTRON/RP1-283E3.8_ENST00000598846.1_RNA/SLC35E2_ENST00000475229.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4091_%2C_0.5909|false|false|1||false|true|false|SLC35E2:9906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2294489|1664124|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2294489] -chr1 1680219 rs1014988 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1680219|1680219|IGR||SNP|G|G|A|g.chr1:1680219G>A|no_transcript|||||||0.516209476309227|GGGTCCAGGCGCTGTGCAAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1680219 rs1014988 G A . PASS FUNCOTATION=[SLC35E2|hg19|chr1|1680219|1680219|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1680219G>A|ENST00000246421.4|-||||||0.516209476309227|GGGTCCAGGCGCTGTGCAAAC|SLC35E2_ENST00000355439.2_FIVE_PRIME_FLANK/SLC35E2_ENST00000400924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1684472 rs7407 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1684472|1684472|SILENT||SNP|C|C|T|g.chr1:1684472C>T|ENST00000344463.4|-|14|1869|c.1647G>A|c.(1645-1647)ccG>ccA|p.P549P|0.6533665835411472|TGGAGGGGAGCGGGTAGCATG|NADK_ENST00000378625.1_SILENT_p.P549P/NADK_ENST00000341426.5_SILENT_p.P404P/NADK_ENST00000341991.3_SILENT_p.P404P/NADK_ENST00000342348.5_SILENT_p.P372P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6603_%2C_0.3397|false|false|1||false|true|false|NADK:65220|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|7407|1684472|true|true|0|true|0|true|0.650972_%2C_0.349028|false|false|false|SNV|true|0x05030000030515053f000100|1|false|52|rs7407] chr1 1688096 exm4521 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1688096|1688096|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1688096C>T|ENST00000344463.4|-|7|1002|c.780G>A|c.(778-780)ccG>ccA|p.P260P|0.5660847880299252|ACCCCACCCTCCTGCAGGGAG|NADK_ENST00000378625.1_SPLICE_SITE_p.P260P/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000342348.5_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|NADK:65220|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|72634841|1688096|false|true|0|false|0|true|0.997115_%2C_0.00288481|false|false|false|SNV|true|0x05020008030504043e000100|1|false|130|rs72634841] chr1 1688096 exm4521 C T . PASS FUNCOTATION=[NADK|hg19|chr1|1688096|1688096|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1688096C>T|ENST00000344463.4|-|7|1002|c.780G>A|c.(778-780)ccG>ccA|p.P260P|0.5660847880299252|ACCCCACCCTCCTGCAGGGAG|NADK_ENST00000378625.1_SPLICE_SITE_p.P260P/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000342348.5_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|NADK:65220|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|72634841|1688096|false|true|0|false|0|true|0.997115_%2C_0.00288481|false|false|false|SNV|true|0x05020008030504043e000100|1|false|130|rs72634841] chr1 1706136 rs6603811 T C . PASS FUNCOTATION=[NADK|hg19|chr1|1706136|1706136|INTRON||SNP|T|T|C|g.chr1:1706136T>C|ENST00000344463.4|-|||c.e1-3592A>G|||0.5486284289276808|TTGACAAGGGTGAGTCAGGAC|NADK_ENST00000378625.1_INTRON/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2534_%2C_0.7466|false|false|1||false|true|false|NADK:65220|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6603811|1706136|false|false|0|true|0|false|0.237688_%2C_0.762312|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6603811] chr1 1707740 rs12041925 T G . PASS FUNCOTATION=[NADK|hg19|chr1|1707740|1707740|INTRON||SNP|T|T|G|g.chr1:1707740T>G|ENST00000344463.4|-|||c.e1-1988A>C|||0.4513715710723192|GCCAACTTTCTGGGACACCCT|NADK_ENST00000378625.1_INTRON/NADK_ENST00000341426.5_INTRON/NADK_ENST00000341991.3_INTRON/NADK_ENST00000492768.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8019_%2C_0.1981|false|false|1||false|true|true|NADK:65220|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12041925|1707740|false|false|0|true|0|false|0.749193_%2C_0.250807|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs12041925] -chr1 1715011 rs742359 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1715011|1715011|IGR||SNP|C|C|A|g.chr1:1715011C>A|no_transcript|||||||0.600997506234414|CAGCACCTTGCCTGGAGCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1715011 rs742359 C A . PASS FUNCOTATION=[NADK|hg19|chr1|1715011|1715011|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:1715011C>A|ENST00000341991.3|-||||||0.600997506234414|CAGCACCTTGCCTGGAGCAGG|NADK_ENST00000378625.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1720670 exm2250243 G A . PASS FUNCOTATION=[GNB1|hg19|chr1|1720670|1720670|SILENT||SNP|G|G|A|g.chr1:1720670G>A|ENST00000378609.4|-|10|1070|c.738C>T|c.(736-738)gaC>gaT|p.D246D|0.5411471321695761|AGGTGGCGTCGTCTGAGCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1766856 psy_rs114622732 A G . PASS FUNCOTATION=[GNB1|hg19|chr1|1766856|1766856|INTRON||SNP|A|A|G|g.chr1:1766856A>G|ENST00000378609.4|-|||c.e2-3773T>C|||0.456359102244389|ATTAGAATCCATGCAAGCCCC|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1776269 rs4648727 C A . PASS FUNCOTATION=[GNB1|hg19|chr1|1776269|1776269|INTRON||SNP|C|C|A|g.chr1:1776269C>A|ENST00000378609.4|-|||c.e2+5592G>T|||0.3940149625935162|GTGTGGTGCACATGTAACATA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -484,11 +484,11 @@ chr1 1804302 rs3855951 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1804302|1804302|IN chr1 1810090 rs7525092 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1810090|1810090|INTRON||SNP|C|C|T|g.chr1:1810090C>T|ENST00000378609.4|-|||c.e1-12169G>A|||0.5037406483790524|CTCACCAAGGCAAGTTGGCAT|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1812521 rs6603802 C T . PASS FUNCOTATION=[GNB1|hg19|chr1|1812521|1812521|INTRON||SNP|C|C|T|g.chr1:1812521C>T|ENST00000378609.4|-|||c.e1-9738G>A|||0.5037406483790524|TAAGGCCTGCCGTACCCTCGA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1818129 rs16824526 A C . PASS FUNCOTATION=[GNB1|hg19|chr1|1818129|1818129|INTRON||SNP|A|A|C|g.chr1:1818129A>C|ENST00000378609.4|-|||c.e1-4130T>G|||0.4239401496259352|ATCAGAATGTAAACCAGTTTA|GNB1_ENST00000472614.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1846765 rs2247560 G A . PASS FUNCOTATION=[CALML6|hg19|chr1|1846765|1846765|INTRON||SNP|G|G|A|g.chr1:1846765G>A|ENST00000307786.3|+|||c.e1+19G>A|||0.5985037406483791|TGACAGCATGGGACCAGGGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1846765 rs2247560 G A . PASS FUNCOTATION=[CALML6|hg19|chr1|1846765|1846765|INTRON||SNP|G|G|A|g.chr1:1846765G>A|ENST00000307786.3|+|||c.e1+19G>A|||0.5985037406483791|TGACAGCATGGGACCAGGGTC|CALML6_ENST00000462293.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1847531 rs28710181 C T . PASS FUNCOTATION=[CALML6|hg19|chr1|1847531|1847531|INTRON||SNP|C|C|T|g.chr1:1847531C>T|ENST00000307786.3|+|||c.e3-349C>T|||0.6733167082294265|CTCCTCCCCACCCTGCTCTCG|CALML6_ENST00000462293.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1852484 rs28508199 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1852484|1852484|IGR||SNP|A|A|G|g.chr1:1852484A>G|no_transcript|||||||0.6408977556109726|CCCATTGGACAGAAATCCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1854321 rs2250833 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1854321|1854321|IGR||SNP|A|A|G|g.chr1:1854321A>G|no_transcript|||||||0.655860349127182|CCCGGCTGTCAGGACAAGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1855655 psy_rs183037218 G T . PASS FUNCOTATION=[Unknown|hg19|chr1|1855655|1855655|IGR||SNP|G|G|T|g.chr1:1855655G>T|no_transcript|||||||0.7306733167082294|GTGCCCGCCAGCTCACCGACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1852484 rs28508199 A G . PASS FUNCOTATION=[TMEM52|hg19|chr1|1852484|1852484|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1852484A>G|ENST00000310991.3|-||||||0.6408977556109726|CCCATTGGACAGAAATCCTGC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1854321 rs2250833 A G . PASS FUNCOTATION=[TMEM52|hg19|chr1|1854321|1854321|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1854321A>G|ENST00000310991.3|-||||||0.655860349127182|CCCGGCTGTCAGGACAAGCCC|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1855655 psy_rs183037218 G T . PASS FUNCOTATION=[TMEM52|hg19|chr1|1855655|1855655|FIVE_PRIME_FLANK||SNP|G|G|T|g.chr1:1855655G>T|ENST00000310991.3|-||||||0.7306733167082294|GTGCCCGCCAGCTCACCGACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1865298 rs2803316 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1865298|1865298|IGR||SNP|A|A|G|g.chr1:1865298A>G|no_transcript|||||||0.39900249376558605|TAATTCTTGAAAAGGAAGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1886519 psy_rs2748975 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1886519|1886519|IGR||SNP|C|C|A|g.chr1:1886519C>A|no_transcript|||||||0.6259351620947631|ACCGGAAGTGCGGCTCACACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1887019 exm4806 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|1887019|1887019|IGR||SNP|A|A|G|g.chr1:1887019A>G|no_transcript|||||||0.6084788029925187|TCGAAGGCCTAGGAAAATTCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -538,7 +538,7 @@ chr1 1918445 exm5049 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1918445|1918445|I chr1 1918475 exm5052 C G . PASS FUNCOTATION=[Unknown|hg19|chr1|1918475|1918475|IGR||SNP|C|C|G|g.chr1:1918475C>G|no_transcript|||||||0.6234413965087282|CAGCTCCCCTCTGGAACAGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1930754 rs6605081 C T . PASS FUNCOTATION=[C1orf222|hg19|chr1|1930754|1930754|INTRON||SNP|C|C|T|g.chr1:1930754C>T|ENST00000434971.2|-|||c.e1-4386G>A|||0.4688279301745636|ACGGAATGGACATCTTTGTCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1941929 rs6656398 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1941929|1941929|IGR||SNP|G|G|A|g.chr1:1941929G>A|no_transcript|||||||0.516209476309227|AGTTTCAGACGGTCAAACAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1946591 rs13303016 G A . PASS FUNCOTATION=[RP11-547D24.1|hg19|chr1|1946591|1946591|RNA||SNP|G|G|A|g.chr1:1946591G>A|ENST00000443930.1|-|||c.e2+152C>T|||0.5361596009975063|AGCGAGCGCCGTTTCCTCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1946591 rs13303016 G A . PASS FUNCOTATION=[GABRD|hg19|chr1|1946591|1946591|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:1946591G>A|ENST00000378585.4|+||||||0.5361596009975063|AGCGAGCGCCGTTTCCTCTCC|RP11-547D24.1_ENST00000443930.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1956414 exm2250439 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1956414|1956414|SILENT||SNP|C|C|T|g.chr1:1956414C>T|ENST00000378585.4|+|2|185|c.102C>T|c.(100-102)tcC>tcT|p.S34S|0.6658354114713217|ACGTGGGCTCCAACCTGGAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1959595 exm1744492 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959595|1959595|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959595C>T|ENST00000378585.4|+|6|638|c.555C>T|c.(553-555)taC>taT|p.Y185Y|0.6733167082294265|TTCCTCCAGACGGTTACTCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1959595 exm1744492 C T . PASS FUNCOTATION=[GABRD|hg19|chr1|1959595|1959595|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:1959595C>T|ENST00000378585.4|+|6|638|c.555C>T|c.(553-555)taC>taT|p.Y185Y|0.6733167082294265|TTCCTCCAGACGGTTACTCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -549,34 +549,34 @@ chr1 1967954 rs2376803 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1967954|1967954 chr1 1979253 psy_rs76775611 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1979253|1979253|IGR||SNP|G|G|A|g.chr1:1979253G>A|no_transcript|||||||0.6608478802992519|CTTCCAGGACGGAGGCTCCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1986954 exm5157 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|1986954|1986954|IGR||SNP|G|G|A|g.chr1:1986954G>A|no_transcript|||||||0.5211970074812967|GACATGTGTCGTCTGCACCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1992748 rs6605074 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|1992748|1992748|IGR||SNP|C|C|T|g.chr1:1992748C>T|no_transcript|||||||0.6159600997506235|TTTCTGTCTACGACCTCGGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2004098 rs6663158 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2004098|2004098|IGR||SNP|G|G|A|g.chr1:2004098G>A|no_transcript|||||||0.6259351620947631|GGGTTGGTGGGTTTGCATTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2004098 rs6663158 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2004098|2004098|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:2004098G>A|ENST00000400921.2|+||||||0.6259351620947631|GGGTTGGTGGGTTTGCATTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2017297 rs2803310 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2017297|2017297|INTRON||SNP|T|T|C|g.chr1:2017297T>C|ENST00000400921.2|+|||c.e1+11929T>C|||0.5935162094763092|AGGTCTGCACTCATGGGTGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2024064 rs2459994 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2024064|2024064|INTRON||SNP|C|C|T|g.chr1:2024064C>T|ENST00000400921.2|+|||c.e1+18696C>T|||0.5037406483790524|AGCTTGAAGACGTTGTACGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2026749 rs884080 A G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2026749|2026749|INTRON||SNP|A|A|G|g.chr1:2026749A>G|ENST00000400921.2|+|||c.e1+21381A>G|||0.6384039900249376|TGAGCTCACCATGGTTTTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2027901 rs7513222 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2027901|2027901|INTRON||SNP|G|G|A|g.chr1:2027901G>A|ENST00000400921.2|+|||c.e1+22533G>A|||0.6309226932668329|CGCCAGGAACGCGGTTGTACG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2035684 rs10910030 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2035684|2035684|INTRON||SNP|C|C|T|g.chr1:2035684C>T|ENST00000400921.2|+|||c.e1+30316C>T|||0.6034912718204489|GGGAGGGGAGCGGGTCGTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2035684 rs10910030 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2035684|2035684|INTRON||SNP|C|C|T|g.chr1:2035684C>T|ENST00000400921.2|+|||c.e1+30316C>T|||0.6034912718204489|GGGAGGGGAGCGGGTCGTCTC|PRKCZ_ENST00000400920.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2038139 psy_rs12749493 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2038139|2038139|INTRON||SNP|C|C|T|g.chr1:2038139C>T|ENST00000400921.2|+|||c.e2-28562C>T|||0.6458852867830424|CAAGCCCCTCCGGTGGGCGAG|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2038732 rs12410859 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2038732|2038732|INTRON||SNP|C|C|T|g.chr1:2038732C>T|ENST00000400921.2|+|||c.e2-27969C>T|||0.6334164588528678|AACACTGAGGCGGGATTGCGT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2040898 rs4648807 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2040898|2040898|INTRON||SNP|T|T|C|g.chr1:2040898T>C|ENST00000400921.2|+|||c.e2-25803T>C|||0.6109725685785536|CTCACTGAATTGTCCTGAGAT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2040936 rs4648808 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2040936|2040936|INTRON||SNP|T|T|C|g.chr1:2040936T>C|ENST00000400921.2|+|||c.e2-25765T>C|||0.6159600997506235|ATTAAACATGTGGATTGCAAC|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2069172 exm-rs425277 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2069172|2069172|INTRON||SNP|C|C|T|g.chr1:2069172C>T|ENST00000400921.2|+|||c.e2+2386C>T|||0.5785536159600998|TCCATTCTGCCGATGGCAGGT|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2069681 exm-rs3753242 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2069681|2069681|INTRON||SNP|C|C|T|g.chr1:2069681C>T|ENST00000400921.2|+|||c.e2+2895C>T|||0.5486284289276808|GTTGGTGAAGCGAGGATGAAA|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2071340 rs424079 C A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2071340|2071340|INTRON||SNP|C|C|A|g.chr1:2071340C>A|ENST00000400921.2|+|||c.e3-4309C>A|||0.5311720698254364|CATGGTAGGGCCACGTCTCTG|PRKCZ_ENST00000400920.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2075653 exm5179 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075653|2075653|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2075653C>T|ENST00000400921.2|+|3|||||0.6508728179551122|CTGCAGAGAGCGTACTGCGGT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2075672 exm5180 C G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075672|2075672|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:2075672C>G|ENST00000400921.2|+|3|||||0.6533665835411472|GTCAGTGCAGCGAGAGGATAT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2075740 exm5184 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075740|2075740|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075740G>A|ENST00000400921.2|+|3|||||0.6483790523690773|GTCCATAAGCGCTGCCACGGC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2075748 exm1748820 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075748|2075748|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075748G>A|ENST00000400921.2|+|3|||||0.6408977556109726|GCGCTGCCACGGCCTCGTCCC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2071340 rs424079 C A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2071340|2071340|INTRON||SNP|C|C|A|g.chr1:2071340C>A|ENST00000400921.2|+|||c.e3-4309C>A|||0.5311720698254364|CATGGTAGGGCCACGTCTCTG|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2075653 exm5179 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075653|2075653|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2075653C>T|ENST00000400921.2|+|3|||||0.6508728179551122|CTGCAGAGAGCGTACTGCGGT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2075672 exm5180 C G . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075672|2075672|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:2075672C>G|ENST00000400921.2|+|3|||||0.6533665835411472|GTCAGTGCAGCGAGAGGATAT|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2075740 exm5184 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075740|2075740|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075740G>A|ENST00000400921.2|+|3|||||0.6483790523690773|GTCCATAAGCGCTGCCACGGC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2075748 exm1748820 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2075748|2075748|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:2075748G>A|ENST00000400921.2|+|3|||||0.6408977556109726|GCGCTGCCACGGCCTCGTCCC|PRKCZ_ENST00000400920.1_FIVE_PRIME_UTR/PRKCZ_ENST00000479263.1_FIVE_PRIME_FLANK/RP5-892K4.1_ENST00000606533.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2076055 psy_rs384726 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2076055|2076055|INTRON||SNP|G|G|A|g.chr1:2076055G>A|ENST00000400921.2|+|||c.e3+275G>A|||0.6109725685785536|TCAGTGGGTCGGAGGTAAGGT|PRKCZ_ENST00000400920.1_INTRON/RP5-892K4.1_ENST00000606533.1_RNA/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2082566 rs2257182 T C . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2082566|2082566|INTRON||SNP|T|T|C|g.chr1:2082566T>C|ENST00000400921.2|+|||c.e6+149T>C|||0.5586034912718204|CATCGTGTAATGACCAGGATG|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2100840 rs262643 C T . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2100840|2100840|INTRON||SNP|C|C|T|g.chr1:2100840C>T|ENST00000400921.2|+|||c.e8-117C>T|||0.6533665835411472|TTGCTCTTTGCAAGACTGAAC|PRKCZ_ENST00000400920.1_INTRON/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2106745 variant.297 G A . PASS FUNCOTATION=[PRKCZ|hg19|chr1|2106745|2106745|NONSENSE||SNP|G|G|A|g.chr1:2106745G>A|ENST00000400921.2|+|13|1702|c.1019G>A|c.(1018-1020)tGg>tAg|p.W340*|0.5885286783042394|AGCATAGACTGGGACTTGGTA|PRKCZ_ENST00000400920.1_NONSENSE_p.W340*/PRKCZ_ENST00000479263.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2125275 exm5287 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2125275|2125275|SILENT||SNP|C|C|T|g.chr1:2125275C>T|ENST00000378546.4|-|3|298|c.273G>A|c.(271-273)ccG>ccA|p.P91P|0.683291770573566|ACAGGTCCGGCGGAAAGGGTG|C1orf86_ENST00000378545.3_SILENT_p.P194P/C1orf86_ENST00000400919.3_FIVE_PRIME_UTR/C1orf86_ENST00000487186.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:2135002C>T|ENST00000487186.1|-|||c.e3-1G>A|c.e3+1||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|SPLICE_SITE|INTRON|SNP|C|C|T|g.chr1:2135002C>T|ENST00000487186.1|-|||c.e3-1G>A|c.e3+1||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2143168 psy_rs171904 A G . PASS FUNCOTATION=[C1orf86|hg19|chr1|2143168|2143168|INTRON||SNP|A|A|G|g.chr1:2143168A>G|ENST00000487186.1|-|||c.e2-643T>C|||0.5411471321695761|GATTACAGGCATGAGCCACCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2143491 psy_rs143314458 G A . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2143491|2143491|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:2143491G>A|ENST00000545087.1|-|1|||||0.571072319201995|ACAGGCGCCCGCCACCACGCC|C1orf86_ENST00000487186.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2146966 rs7512482 T C . PASS FUNCOTATION=[RP11-181G12.4|hg19|chr1|2146966|2146966|LINCRNA||SNP|T|T|C|g.chr1:2146966T>C|ENST00000442483.2|+|||c.e1+2883T>C|||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482] -chr1 2156362 rs2460000 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|2156362|2156362|IGR||SNP|A|A|G|g.chr1:2156362A>G|no_transcript|||||||0.6408977556109726|CAAGCTCAGGAAGAAAAGTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2135002 chr1_2135002 C T . PASS FUNCOTATION=[C1orf86|hg19|chr1|2135002|2135002|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2135002C>T|ENST00000378545.3|-||||||0.6533665835411472|GTGCCCCTCACCTGGGGTGGA|C1orf86_ENST00000487186.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2143168 psy_rs171904 A G . PASS FUNCOTATION=[C1orf86|hg19|chr1|2143168|2143168|INTRON||SNP|A|A|G|g.chr1:2143168A>G|ENST00000487186.1|-|||c.e2-643T>C|||0.5411471321695761|GATTACAGGCATGAGCCACCG|RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2143491 psy_rs143314458 G A . PASS FUNCOTATION=[AL590822.1|hg19|chr1|2143491|2143491|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:2143491G>A|ENST00000545087.1|-|1|||||0.571072319201995|ACAGGCGCCCGCCACCACGCC|C1orf86_ENST00000487186.1_INTRON/RP11-181G12.4_ENST00000442483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2146966 rs7512482 T C . PASS FUNCOTATION=[C1orf86|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000487186.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|AL590822.1_ENST00000545087.1_FIVE_PRIME_FLANK/RP11-181G12.4_ENST00000442483.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482] +chr1 2156362 rs2460000 A G . PASS FUNCOTATION=[SKI|hg19|chr1|2156362|2156362|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:2156362A>G|ENST00000378536.4|+||||||0.6408977556109726|CAAGCTCAGGAAGAAAAGTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2173504 rs263526 T C . PASS FUNCOTATION=[SKI|hg19|chr1|2173504|2173504|INTRON||SNP|T|T|C|g.chr1:2173504T>C|ENST00000378536.4|+|||c.e1+12330T>C|||0.571072319201995|CAATATCTTGTTGGGAGGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2173811 psy_rs55781948 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2173811|2173811|INTRON||SNP|C|C|T|g.chr1:2173811C>T|ENST00000378536.4|+|||c.e1+12637C>T|||0.516209476309227|TGTTTGTTCACGTCAGGGGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2180524 rs260513 G A . PASS FUNCOTATION=[SKI|hg19|chr1|2180524|2180524|INTRON||SNP|G|G|A|g.chr1:2180524G>A|ENST00000378536.4|+|||c.e1+19350G>A|||0.6159600997506235|TGGCAGATGCGGTCGAGTGCT|SKI_ENST00000478223.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -589,7 +589,7 @@ chr1 2216368 psy_rs4648821 T G . PASS FUNCOTATION=[SKI|hg19|chr1|2216368|2216368 chr1 2220649 rs2017143 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2220649|2220649|INTRON||SNP|C|C|T|g.chr1:2220649C>T|ENST00000378536.4|+|||c.e2-13768C>T|||0.6084788029925187|TATGTTGAGCCTCTCTAGGCA|SKI_ENST00000478223.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2223866 rs884940 C T . PASS FUNCOTATION=[SKI|hg19|chr1|2223866|2223866|INTRON||SNP|C|C|T|g.chr1:2223866C>T|ENST00000378536.4|+|||c.e2-10551C>T|||0.6209476309226932|ATCTAGCAGACGTTCATCAGG|SKI_ENST00000478223.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2242298 psy_rs146894003 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|2242298|2242298|IGR||SNP|G|G|A|g.chr1:2242298G>A|no_transcript|||||||0.6533665835411472|GTGCCATGCCGCATGCCAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2254910 psy_rs2645075 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2254910|2254910|INTRON||SNP|T|T|C|g.chr1:2254910T>C|ENST00000378531.3|-|||c.e13-626A>G|||0.6683291770573566|TCAGCCGCGGTGCCCAGGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1851_%2C_0.8149|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645075|2254910|true|false|0|true|0|false|0.184606_%2C_0.815394|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645075] +chr1 2254910 psy_rs2645075 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2254910|2254910|INTRON||SNP|T|T|C|g.chr1:2254910T>C|ENST00000378531.3|-|||c.e13-626A>G|||0.6683291770573566|TCAGCCGCGGTGCCCAGGTCC|AL589739.1_ENST00000600779.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1851_%2C_0.8149|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645075|2254910|true|false|0|true|0|false|0.184606_%2C_0.815394|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645075] chr1 2261222 rs2645065 C A . PASS FUNCOTATION=[MORN1|hg19|chr1|2261222|2261222|INTRON||SNP|C|C|A|g.chr1:2261222C>A|ENST00000378531.3|-|||c.e13+5640G>T|||0.6633416458852868|AGATAGTGTTCCCCAAGGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9062_%2C_0.09385_%2C_.|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645065|2261222|false|false|0|true|0|false|0.878975_%2C_0.121025_%2C_.|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645065] chr1 2263888 rs903904 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2263888|2263888|INTRON||SNP|C|C|T|g.chr1:2263888C>T|ENST00000378531.3|-|||c.e12-4020G>A|||0.6433915211970075|GATGGGCGACCCCTGGCCCCG|MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8397_%2C_0.1603|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|903904|2263888|false|false|0|true|0|false|0.833665_%2C_0.166335|false|false|false|SNV|true|0x05010008000515053f000101|1|false|86|rs903904] chr1 2268156 exm5460 C G . PASS FUNCOTATION=[MORN1|hg19|chr1|2268156|2268156|SPLICE_SITE|MISSENSE|SNP|C|C|G|g.chr1:2268156C>G|ENST00000378531.3|-|11|1344|c.1170G>C|c.(1168-1170)aaG>aaC|p.K390N|0.655860349127182|GGGCACCCACCTTGTGGAGGC|MORN1_ENST00000606372.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MORN1:79906|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|561543765|2268156|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|142|rs561543765] @@ -602,9 +602,9 @@ chr1 2283896 rs2840528 A G . PASS FUNCOTATION=[MORN1|hg19|chr1|2283896|2283896|I chr1 2284003 rs2645082 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2284003|2284003|INTRON||SNP|T|T|C|g.chr1:2284003T>C|ENST00000378531.3|-|||c.e10-4868A>G|||0.5960099750623441|GGGAGCCACCTGAGGGGCTTG|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.123_%2C_0.877|false|false|1||false|true|false|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2645082|2284003|false|false|0|true|0|false|0.153685_%2C_0.846315|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2645082] chr1 2284195 rs3795272 T C . PASS FUNCOTATION=[MORN1|hg19|chr1|2284195|2284195|INTRON||SNP|T|T|C|g.chr1:2284195T>C|ENST00000378531.3|-|||c.e10-4676A>G|||0.6084788029925187|GCAGGTACCCTGGAGATTTTC|RP4-740C4.6_ENST00000602865.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6893_%2C_0.3107|false|false|1||false|true|true|LOC100129534:100129534_%7C_MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3795272|2284195|true|false|0|true|0|false|0.711072_%2C_0.288928|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|107|rs3795272] chr1 2306695 rs2279703 C T . PASS FUNCOTATION=[MORN1|hg19|chr1|2306695|2306695|INTRON||SNP|C|C|T|g.chr1:2306695C>T|ENST00000378529.3|-|||c.e7+699G>A|||0.5361596009975063|TGTTCACTCTCTGGCAGGAGC|MORN1_ENST00000378531.3_INTRON/RP4-740C4.9_ENST00000606642.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6216_%2C_0.3784|false|false|1||false|true|true|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2279703|2306695|false|false|0|true|0|false|0.67223_%2C_0.32777|false|false|false|SNV|true|0x05010008000517053f000100|1|false|100|rs2279703] -chr1 2309082 rs2843160 T G . PASS FUNCOTATION=[MORN1|hg19|chr1|2309082|2309082|INTRON||SNP|T|T|G|g.chr1:2309082T>G|ENST00000378529.3|-|||c.e7+3086A>C|||0.5985037406483791|TATTGGAAGCTATGCCCTCTG|MORN1_ENST00000378531.3_INTRON/RP4-740C4.8_ENST00000606280.1_RNA/MORN1_ENST00000606372.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5102_%2C_0.4898|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2843160|2309082|true|false|0|true|0|false|0.574559_%2C_0.425441|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2843160] -chr1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330] -chr1 2327815 exm2268641 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327815|2327815|INTRON||SNP|C|C|T|g.chr1:2327815C>T|ENST00000605895.1|+|||c.e2+505C>T|||0.4613466334164589|CTTGGGTCACCGGCAGTTCCA|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4758_%2C_0.5242|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2840532|2327815|true|false|0|true|0|false|0.482588_%2C_0.517412|false|false|false|SNV|true|0x05010008000515053f000101|1|false|100|rs2840532] +chr1 2309082 rs2843160 T G . PASS FUNCOTATION=[MORN1|hg19|chr1|2309082|2309082|INTRON||SNP|T|T|G|g.chr1:2309082T>G|ENST00000378529.3|-|||c.e7+3086A>C|||0.5985037406483791|TATTGGAAGCTATGCCCTCTG|MORN1_ENST00000378531.3_INTRON/RP4-740C4.8_ENST00000606280.1_RNA/MORN1_ENST00000606372.1_INTRON/RP4-740C4.9_ENST00000606642.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5102_%2C_0.4898|false|false|1||false|true|false|MORN1:79906|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2843160|2309082|true|false|0|true|0|false|0.574559_%2C_0.425441|false|false|false|SNV|true|0x05010008000515053f000100|1|false|100|rs2843160] +chr1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330] +chr1 2327815 exm2268641 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327815|2327815|INTRON||SNP|C|C|T|g.chr1:2327815C>T|ENST00000605895.1|+|||c.e2+505C>T|||0.4613466334164589|CTTGGGTCACCGGCAGTTCCA|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4758_%2C_0.5242|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2840532|2327815|true|false|0|true|0|false|0.482588_%2C_0.517412|false|false|false|SNV|true|0x05010008000515053f000101|1|false|100|rs2840532] chr1 2330190 rs6693447 T G . PASS FUNCOTATION=[RER1|hg19|chr1|2330190|2330190|INTRON||SNP|T|T|G|g.chr1:2330190T>G|ENST00000605895.1|+|||c.e4-664T>G|||0.4488778054862843|TGCTTAATCATTTTAAAAAAT|RER1_ENST00000488353.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6514_%2C_0.3486|false|false|1||false|true|true|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6693447|2330190|false|false|0|true|0|false|0.627584_%2C_0.372416|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs6693447] chr1 2330953 variant.313 G A . PASS FUNCOTATION=[RER1|hg19|chr1|2330953|2330953|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:2330953G>A|ENST00000605895.1|+|4|419|c.286G>A|c.(286-288)Gat>Aat|p.D96N|0.4763092269326683|GGAAGACTCAGGTAGGGTAGC|RER1_ENST00000488353.1_SPLICE_SITE_p.D96N/RER1_ENST00000378512.1_SPLICE_SITE_p.D96N/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|RER1:11079|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|769814129|2330953|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000a05000402000100|1|false|144|rs769814129] chr1 2351699 rs3935659 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|2351699|2351699|IGR||SNP|T|T|C|g.chr1:2351699T>C|no_transcript|||||||0.6209476309226932|AGGCAGCACCTACCTCTTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -634,9 +634,9 @@ chr1 2420787 exm2250942 A T . PASS FUNCOTATION=[PLCH2|hg19|chr1|2420787|2420787| chr1 2440415 exm2250954 G A . PASS FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464] chr1 2440415 exm5910 G A . PASS FUNCOTATION=[PANK4|hg19|chr1|2440415|2440415|SILENT||SNP|G|G|A|g.chr1:2440415G>A|ENST00000378466.3|-|19|2206|c.2193C>T|c.(2191-2193)caC>caT|p.H731H|0.6234413965087282|GGTAGTTTGTGTGGACAGCAC|PANK4_ENST00000435556.3_SILENT_p.H692H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PANK4:55229|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|141941464|2440415|false|true|0|true|0|true|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050300000305040426000100|1|false|134|rs141941464] chr1 2450733 indel.338 AG A . PASS FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138] -chr1 2461316 exm2250972 C T . PASS FUNCOTATION=[HES5|hg19|chr1|2461316|2461316|SILENT||SNP|C|C|T|g.chr1:2461316C>T|ENST00000378453.3|-|2|270|c.189G>A|c.(187-189)gaG>gaA|p.E63E|0.7231920199501247|TGACAGCCATCTCCAGGATGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2461316 exm2250972 C T . PASS FUNCOTATION=[HES5|hg19|chr1|2461316|2461316|SILENT||SNP|C|C|T|g.chr1:2461316C>T|ENST00000378453.3|-|2|270|c.189G>A|c.(187-189)gaG>gaA|p.E63E|0.7231920199501247|TGACAGCCATCTCCAGGATGT|PANK4_ENST00000378466.3_FIVE_PRIME_FLANK/PANK4_ENST00000435556.3_FIVE_PRIME_FLANK/PANK4_ENST00000491212.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2493130 exm2251018 G A . PASS FUNCOTATION=[TNFRSF14|hg19|chr1|2493130|2493130|SILENT||SNP|G|G|A|g.chr1:2493130G>A|ENST00000355716.4|+|6|869|c.570G>A|c.(568-570)acG>acA|p.T190T|0.6234413965087282|GGCTGGTGACGAAGGCCGGAG|TNFRSF14_ENST00000409119.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 2513216 exm-rs734999 C T . PASS FUNCOTATION=[RP3-395M20.9|hg19|chr1|2513216|2513216|RNA||SNP|C|C|T|g.chr1:2513216C>T|ENST00000424215.1|+|||c.e1+127C>T|||0.48877805486284287|AAGAAAAGCACAACAGAGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2513216 exm-rs734999 C T . PASS FUNCOTATION=[FAM213B|hg19|chr1|2513216|2513216|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:2513216C>T|ENST00000419916.2|+||||||0.48877805486284287|AAGAAAAGCACAACAGAGAAC|RP3-395M20.9_ENST00000424215.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2519989 exm6175 G T . PASS FUNCOTATION=[FAM213B|hg19|chr1|2519989|2519989|SPLICE_SITE|MISSENSE|SNP|G|G|T|g.chr1:2519989G>T|ENST00000378424.4|+|5|545|c.529G>T|c.(529-531)Gcc>Tcc|p.A177S|0.6359102244389028|CTCCTGACAGGCCAAGGCTGT|FAM213B_ENST00000419916.2_SPLICE_SITE_p.A159S/FAM213B_ENST00000378425.5_SPLICE_SITE_p.A129S/FAM213B_ENST00000444521.2_SPLICE_SITE_p.A147S/FAM213B_ENST00000537325.1_INTRON/FAM213B_ENST00000484099.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 2526245 exm6253 T A . PASS FUNCOTATION=[MMEL1|hg19|chr1|2526245|2526245|NONSENSE||SNP|T|T|A|g.chr1:2526245T>A|ENST00000378412.3|-|17|1834|c.1672A>T|c.(1672-1674)Aag>Tag|p.K558*|0.6483790523690773|GGGTCCACCTTTTCCCGAAGC|MMEL1_ENST00000502556.1_NONSENSE_p.K401*/MMEL1_ENST00000288709.6_NONSENSE_p.K549*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200758088|2526245|false|true|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000605040402000100|1|false|137|rs200758088] chr1 2530219 variant.359 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2530219|2530219|NONSENSE||SNP|C|C|T|g.chr1:2530219C>T|ENST00000378412.3|-|12|1214|c.1052G>A|c.(1051-1053)tGg>tAg|p.W351*|0.49875311720698257|GAACAGAGTCCAGTTAAATCC|MMEL1_ENST00000502556.1_NONSENSE_p.W194*/MMEL1_ENST00000288709.6_NONSENSE_p.W342*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|768914853|2530219|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|144|rs768914853] @@ -644,10 +644,10 @@ chr1 2541269 exm6351 A G . PASS FUNCOTATION=[MMEL1|hg19|chr1|2541269|2541269|SPL chr1 2541269 exm6351 A G . PASS FUNCOTATION=[MMEL1|hg19|chr1|2541269|2541269|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:2541269A>G|ENST00000378412.3|-|5|456|c.294T>C|c.(292-294)gcT>gcC|p.A98A|0.6184538653366584|GGATCCTGGCAGCTGCTCGTC|MMEL1_ENST00000502556.1_SPLICE_SITE_p.A98A/MMEL1_ENST00000288709.6_SPLICE_SITE_p.A89A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4685_%2C_0.5315|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|10797440|2541269|false|true|0|true|0|true|0.525414_%2C_0.474586|false|false|false|SNV|true|0x05030000030517053f000100|1|false|120|rs10797440] chr1 2542778 exm6352 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2542778|2542778|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:2542778C>T|ENST00000378412.3|-|4|396|c.234G>A|c.(232-234)ggG>ggA|p.G78G|0.683291770573566|CCTCTGGGATCCCTGCGGGCA|MMEL1_ENST00000502556.1_SPLICE_SITE_p.G78G/MMEL1_ENST00000288709.6_SPLICE_SITE_p.G69G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201188524|2542778|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|false|0x050000000305000402000100|1|false|137|rs201188524] chr1 2542778 exm6352 C T . PASS FUNCOTATION=[MMEL1|hg19|chr1|2542778|2542778|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:2542778C>T|ENST00000378412.3|-|4|396|c.234G>A|c.(232-234)ggG>ggA|p.G78G|0.683291770573566|CCTCTGGGATCCCTGCGGGCA|MMEL1_ENST00000502556.1_SPLICE_SITE_p.G78G/MMEL1_ENST00000288709.6_SPLICE_SITE_p.G69G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMEL1:79258|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201188524|2542778|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|false|0x050000000305000402000100|1|false|137|rs201188524] -chr1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|RP13-436F16.1_ENST00000427302.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515] +chr1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515] chr1 2938265 rs4576609 C T . PASS FUNCOTATION=[ACTRT2|hg19|chr1|2938265|2938265|SILENT||SNP|C|C|T|g.chr1:2938265C>T|ENST00000378404.2|+|1|220|c.15C>T|c.(13-15)caC>caT|p.H5H|0.6059850374064838|TTAATCCGCACGCTTTAGACT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7983_%2C_._%2C_0.2017|false|false|1||false|true|true|ACTRT2:140625|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4576609|2938265|false|false|0|true|0|true|0.836974_%2C_3.4343e-005_%2C_0.162992|false|false|false|SNV|true|0x05010000030517053e000100|1|false|111|rs4576609] chr1 2939409 rs12564513 G T . PASS FUNCOTATION=[ACTRT2|hg19|chr1|2939409|2939409|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:2939409G>T|ENST00000378404.2|+|1|||||0.5935162094763092|TGGGTACCGTGGGGGGTGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9215_%2C_0.0003994_%2C_._%2C_0.07808|false|false|1||false|true|false|ACTRT2:140625|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|12564513|2939409|false|false|0|true|0|false|0.964764_%2C_._%2C_3.4343e-005_%2C_0.0352016|false|true|false|SNV|true|0x050100800005150537000100|1|false|120|rs12564513] -chr1 2983674 psy_rs75412307 T G . PASS FUNCOTATION=[LINC00982|hg19|chr1|2983674|2983674|RNA||SNP|T|T|G|g.chr1:2983674T>G|ENST00000445317.1|-|||c.e2-227A>C|||0.6184538653366584|GGCGAGCAGGTTCAGAACCGG|LINC00982_ENST00000321336.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 2983674 psy_rs75412307 T G . PASS FUNCOTATION=[PRDM16|hg19|chr1|2983674|2983674|FIVE_PRIME_FLANK||SNP|T|T|G|g.chr1:2983674T>G|ENST00000270722.5|+||||||0.6184538653366584|GGCGAGCAGGTTCAGAACCGG|PRDM16_ENST00000378391.2_FIVE_PRIME_FLANK/PRDM16_ENST00000378398.3_FIVE_PRIME_FLANK/PRDM16_ENST00000441472.2_FIVE_PRIME_FLANK/PRDM16_ENST00000442529.2_FIVE_PRIME_FLANK/PRDM16_ENST00000511072.1_FIVE_PRIME_FLANK/PRDM16_ENST00000514189.1_FIVE_PRIME_FLANK/LINC00982_ENST00000445317.1_RNA/LINC00982_ENST00000321336.1_RNA/LINC00982_ENST00000321399.3_FIVE_PRIME_FLANK/LINC00982_ENST00000415573.1_FIVE_PRIME_FLANK/LINC00982_ENST00000606861.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3301715 chr1_3301715 G C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3301715|3301715|SPLICE_SITE|INTRON|SNP|G|G|C|g.chr1:3301715G>C|ENST00000270722.5|+|||c.e4-1G>C|c.e4-1||0.6159600997506235|CCTCCCAGCAGATCTCCGAAG|PRDM16_ENST00000511072.1_MISSENSE_p.Q147H/PRDM16_ENST00000514189.1_MISSENSE_p.Q147H/PRDM16_ENST00000378391.2_SPLICE_SITE/PRDM16_ENST00000441472.2_SPLICE_SITE/PRDM16_ENST00000442529.2_SPLICE_SITE/PRDM16_ENST00000378398.3_SPLICE_SITE/PRDM16_ENST00000512462.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3327949 exm6524 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3327949|3327949|SPLICE_SITE|SILENT|SNP|T|T|C|g.chr1:3327949T>C|ENST00000270722.5|+|9|1237|c.1188T>C|c.(1186-1188)tgT>tgC|p.C396C|0.5785536159600998|ATGTTTTAGGTGAGGTCTGCC|PRDM16_ENST00000378391.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000511072.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000514189.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000441472.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000442529.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000378398.3_SPLICE_SITE_p.C397C/PRDM16_ENST00000512462.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3327949 exm6524 T C . PASS FUNCOTATION=[PRDM16|hg19|chr1|3327949|3327949|SPLICE_SITE|SILENT|SNP|T|T|C|g.chr1:3327949T>C|ENST00000270722.5|+|9|1237|c.1188T>C|c.(1186-1188)tgT>tgC|p.C396C|0.5785536159600998|ATGTTTTAGGTGAGGTCTGCC|PRDM16_ENST00000378391.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000511072.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000514189.1_SPLICE_SITE_p.C397C/PRDM16_ENST00000441472.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000442529.2_SPLICE_SITE_p.C396C/PRDM16_ENST00000378398.3_SPLICE_SITE_p.C397C/PRDM16_ENST00000512462.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -666,19 +666,19 @@ chr1 3417747 exm6966 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3417747|3417747|NON chr1 3431235 exm7112 A C . PASS FUNCOTATION=[MEGF6|hg19|chr1|3431235|3431235|SPLICE_SITE|SILENT|SNP|A|A|C|g.chr1:3431235A>C|ENST00000356575.4|-|7|959|c.732T>G|c.(730-732)cgT>cgG|p.R244R|0.683291770573566|ACGGGCTTCTACCTGCAGCCA|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R139R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3431235 exm7112 A C . PASS FUNCOTATION=[MEGF6|hg19|chr1|3431235|3431235|SPLICE_SITE|SILENT|SNP|A|A|C|g.chr1:3431235A>C|ENST00000356575.4|-|7|959|c.732T>G|c.(730-732)cgT>cgG|p.R244R|0.683291770573566|ACGGGCTTCTACCTGCAGCCA|MEGF6_ENST00000294599.4_SPLICE_SITE_p.R139R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3440796 exm7131 G A . PASS FUNCOTATION=[MEGF6|hg19|chr1|3440796|3440796|NONSENSE||SNP|G|G|A|g.chr1:3440796G>A|ENST00000356575.4|-|5|723|c.496C>T|c.(496-498)Cga>Tga|p.R166*|0.6608478802992519|TTGTGGGTTCGGCATTCGTCC|MEGF6_ENST00000294599.4_NONSENSE_p.R61*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3540024 rs12757620 T G . PASS FUNCOTATION=[RP11-46F15.2|hg19|chr1|3540024|3540024|RNA||SNP|T|T|G|g.chr1:3540024T>G|ENST00000435049.1|-|||c.e3-96A>C|||0.5835411471321695|CAGGTCTTGCTGGGCGTGCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577] -chr1 3542422 newrs148462952 G T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542422|3542422|NONSENSE||SNP|G|G|T|g.chr1:3542422G>T|ENST00000378344.2|+|3|510|c.439G>T|c.(439-441)Gaa>Taa|p.E147*|0.5087281795511222|TTCCTACGGAGAATTCCAGTT|TPRG1L_ENST00000344579.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148462952|3542422|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080605040002000100|1|false|134|rs148462952] -chr1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742] -chr1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742] -chr1 3544995 variant.405 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544995|3544995|NONSENSE||SNP|T|T|G|g.chr1:3544995T>G|ENST00000378344.2|+|5|718|c.647T>G|c.(646-648)tTa>tGa|p.L216*|0.49625935162094764|AAGGCTCTGTTAATCCAAGCT|TPRG1L_ENST00000344579.5_NONSENSE_p.L157*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|750555620|3544995|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|144|rs750555620] -chr1 3545612 rs1128474 A G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3545612|3545612|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:3545612A>G|ENST00000378344.2|+|5|||||0.4937655860349127|AGTTGCAAGTATGTTTACACC|TPRG1L_ENST00000344579.5_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7949_%2C_0.2051|false|false|1||false|true|false|TPRG1L:127262|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1128474|3545612|false|false|0|true|0|false|0.832853_%2C_0.167147|false|true|false|SNV|true|0x050100800005150537000100|1|false|86|rs1128474] +chr1 3540024 rs12757620 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3540024|3540024|FIVE_PRIME_FLANK||SNP|T|T|G|g.chr1:3540024T>G|ENST00000344579.5|+||||||0.5835411471321695|CAGGTCTTGCTGGGCGTGCCA|TPRG1L_ENST00000378344.2_FIVE_PRIME_FLANK/RP11-46F15.2_ENST00000435049.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577] +chr1 3542422 newrs148462952 G T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542422|3542422|NONSENSE||SNP|G|G|T|g.chr1:3542422G>T|ENST00000378344.2|+|3|510|c.439G>T|c.(439-441)Gaa>Taa|p.E147*|0.5087281795511222|TTCCTACGGAGAATTCCAGTT|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148462952|3542422|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000080605040002000100|1|false|134|rs148462952] +chr1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742] +chr1 3544065 variant.403 C T . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544065|3544065|SPLICE_SITE|NONSENSE|SNP|C|C|T|g.chr1:3544065C>T|ENST00000378344.2|+|4|543|c.472C>T|c.(472-474)Cga>Tga|p.R158*|0.4389027431421446|ACTTTTCAGGCGAGAAGGTTT|TPRG1L_ENST00000344579.5_SPLICE_SITE_p.R99*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370133742|3544065|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|138|rs370133742] +chr1 3544995 variant.405 T G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3544995|3544995|NONSENSE||SNP|T|T|G|g.chr1:3544995T>G|ENST00000378344.2|+|5|718|c.647T>G|c.(646-648)tTa>tGa|p.L216*|0.49625935162094764|AAGGCTCTGTTAATCCAAGCT|TPRG1L_ENST00000344579.5_NONSENSE_p.L157*/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|750555620|3544995|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|144|rs750555620] +chr1 3545612 rs1128474 A G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3545612|3545612|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:3545612A>G|ENST00000378344.2|+|5|||||0.4937655860349127|AGTTGCAAGTATGTTTACACC|TPRG1L_ENST00000344579.5_THREE_PRIME_UTR/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7949_%2C_0.2051|false|false|1||false|true|false|TPRG1L:127262|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1128474|3545612|false|false|0|true|0|false|0.832853_%2C_0.167147|false|true|false|SNV|true|0x050100800005150537000100|1|false|86|rs1128474] chr1 3648066 exm7419 T C . PASS FUNCOTATION=[TP73|hg19|chr1|3648066|3648066|SILENT||SNP|T|T|C|g.chr1:3648066T>C|ENST00000378295.4|+|13|1679|c.1524T>C|c.(1522-1524)taT>taC|p.Y508Y|0.5885286783042394|GCATCGAGTATTTCACCTCCC|TP73_ENST00000378280.1_MISSENSE_p.F410L/TP73_ENST00000378288.4_SILENT_p.Y459Y/TP73_ENST00000378290.4_SILENT_p.Y437Y/TP73_ENST00000604479.1_SILENT_p.Y412Y/TP73_ENST00000604074.1_INTRON/TP73_ENST00000354437.4_INTRON/TP73_ENST00000378285.1_INTRON/TP73_ENST00000603362.1_INTRON/TP73_ENST00000346387.4_SILENT_p.Y412Y/TP73_ENST00000357733.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3649562 rs9662633 G A . PASS FUNCOTATION=[TP73|hg19|chr1|3649562|3649562|SILENT||SNP|G|G|A|g.chr1:3649562G>A|ENST00000378295.4|+|14|1985|c.1830G>A|c.(1828-1830)gcG>gcA|p.A610A|0.685785536159601|ACGAGTGGGCGGACTTCGGCT|TP73_ENST00000378288.4_SILENT_p.A561A/TP73_ENST00000378290.4_SILENT_p.A539A/TP73_ENST00000603362.1_SILENT_p.A529A/TP73_ENST00000604479.1_SILENT_p.A514A/TP73_ENST00000604074.1_THREE_PRIME_UTR/TP73_ENST00000354437.4_THREE_PRIME_UTR/TP73_ENST00000378285.1_THREE_PRIME_UTR/TP73_ENST00000378280.1_THREE_PRIME_UTR/TP73_ENST00000357733.3_SILENT_p.A529A/TP73_ENST00000346387.4_SILENT_p.A514A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3651031 rs12562437 C T . PASS FUNCOTATION=[TP73|hg19|chr1|3651031|3651031|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:3651031C>T|ENST00000378295.4|+|14|||||0.6384039900249376|CCCTCACCCACGCAAGCCGAG|TP73_ENST00000378288.4_THREE_PRIME_UTR/TP73_ENST00000604074.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3651409 rs10910018 G A . PASS FUNCOTATION=[TP73|hg19|chr1|3651409|3651409|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:3651409G>A|ENST00000378295.4|+|14|||||0.6408977556109726|GGGGCTGTCGGCTCTCAGGGG|TP73_ENST00000378288.4_THREE_PRIME_UTR/TP73_ENST00000604074.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3657759 rs12117836 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3657759|3657759|RNA||SNP|G|G|A|g.chr1:3657759G>A|ENST00000452079.1|-|||c.e4+808C>T|||0.5037406483790524|CAAAAGGACCGGAGGCCTTTG|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000587071.1_RNA/TP73-AS1_ENST00000608600.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3659657 rs2298222 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3659657|3659657|RNA||SNP|G|G|A|g.chr1:3659657G>A|ENST00000452079.1|-|||c.e2+32C>T|||0.5810473815461347|AGAGGCCGCCGGGAACAGGCA|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000608600.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3657759 rs12117836 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3657759|3657759|RNA||SNP|G|G|A|g.chr1:3657759G>A|ENST00000452079.1|-|||c.e4+808C>T|||0.5037406483790524|CAAAAGGACCGGAGGCCTTTG|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000587071.1_RNA/TP73-AS1_ENST00000608600.1_RNA/TP73-AS1_ENST00000419973.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3659657 rs2298222 G A . PASS FUNCOTATION=[TP73-AS1|hg19|chr1|3659657|3659657|RNA||SNP|G|G|A|g.chr1:3659657G>A|ENST00000452079.1|-|||c.e2+32C>T|||0.5810473815461347|AGAGGCCGCCGGGAACAGGCA|TP73-AS1_ENST00000418088.1_RNA/TP73-AS1_ENST00000423764.1_RNA/TP73-AS1_ENST00000608600.1_RNA/TP73-AS1_ENST00000587071.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3669362 exm7506 C T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3669362|3669362|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:3669362C>T|ENST00000294600.2|+|1|401|c.317C>T|c.(316-318)aCg>aTg|p.T106M|0.6034912718204489|TACAGGAAGACGGTATGGGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3672032 exm7520 G T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3672032|3672032|NONSENSE||SNP|G|G|T|g.chr1:3672032G>T|ENST00000294600.2|+|3|538|c.454G>T|c.(454-456)Gag>Tag|p.E152*|0.5860349127182045|TTCACCCACTGAGGCCGATTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3673329 newrs150537276 G T . PASS FUNCOTATION=[CCDC27|hg19|chr1|3673329|3673329|NONSENSE||SNP|G|G|T|g.chr1:3673329G>T|ENST00000294600.2|+|4|670|c.586G>T|c.(586-588)Gag>Tag|p.E196*|0.5785536159600998|GAGCATCTGCGAGTTCGATTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -692,11 +692,11 @@ chr1 3739988 variant.436 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3739988|373998 chr1 3743271 variant.437 C A . PASS FUNCOTATION=[CEP104|hg19|chr1|3743271|3743271|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr1:3743271C>A|ENST00000378230.3|-|||c.e16-1G>T|c.e16+1||0.46384039900249374|TCTTTACATACCCTGATTCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3751489 variant.438 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3751489 variant.438 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3751489|3751489|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:3751489G>A|ENST00000378230.3|-|11|1810|c.1485C>T|c.(1483-1485)tcC>tcT|p.S495S|0.48129675810473815|GGGCACTCACGGAGGTCACAA|CEP104_ENST00000460038.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3753972 exm7856 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3753972|3753972|NONSENSE||SNP|G|G|A|g.chr1:3753972G>A|ENST00000378230.3|-|9|1328|c.1003C>T|c.(1003-1005)Cag>Tag|p.Q335*|0.43640897755610975|TCTGCAAACTGGTTTTCTGTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3755660 variant.443 A C . PASS FUNCOTATION=[CEP104|hg19|chr1|3755660|3755660|NONSENSE||SNP|A|A|C|g.chr1:3755660A>C|ENST00000378230.3|-|8|1084|c.759T>G|c.(757-759)taT>taG|p.Y253*|0.5112219451371571|TCTCTACCTCATACCTCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3756342 variant.444 T C . PASS FUNCOTATION=[CEP104|hg19|chr1|3756342|3756342|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:3756342T>C|ENST00000378230.3|-|||c.e7+2A>G|c.e7-2||0.428927680798005|TCAGATTTCCTAAAGGGAAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3753856 exm7850 A G . PASS FUNCOTATION=[CEP104|hg19|chr1|3753856|3753856|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:3753856A>G|ENST00000378230.3|-|9|1444|c.1119T>C|c.(1117-1119)aaT>aaC|p.N373N|0.47880299251870323|AATTACCTACATTGATCTTTG|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3753972 exm7856 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3753972|3753972|NONSENSE||SNP|G|G|A|g.chr1:3753972G>A|ENST00000378230.3|-|9|1328|c.1003C>T|c.(1003-1005)Cag>Tag|p.Q335*|0.43640897755610975|TCTGCAAACTGGTTTTCTGTT|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3755660 variant.443 A C . PASS FUNCOTATION=[CEP104|hg19|chr1|3755660|3755660|NONSENSE||SNP|A|A|C|g.chr1:3755660A>C|ENST00000378230.3|-|8|1084|c.759T>G|c.(757-759)taT>taG|p.Y253*|0.5112219451371571|TCTCTACCTCATACCTCCCAA|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 3756342 variant.444 T C . PASS FUNCOTATION=[CEP104|hg19|chr1|3756342|3756342|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:3756342T>C|ENST00000378230.3|-|||c.e7+2A>G|c.e7-2||0.428927680798005|TCAGATTTCCTAAAGGGAAGA|CEP104_ENST00000460038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3761541 variant.445 G A . PASS FUNCOTATION=[CEP104|hg19|chr1|3761541|3761541|NONSENSE||SNP|G|G|A|g.chr1:3761541G>A|ENST00000378230.3|-|6|821|c.496C>T|c.(496-498)Cga>Tga|p.R166*|0.4164588528678304|AACTTCTCTCGAGAGGCCTTT|CEP104_ENST00000378223.3_NONSENSE_p.R166*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3761547 exm7894 C A . PASS FUNCOTATION=[CEP104|hg19|chr1|3761547|3761547|SPLICE_SITE|MISSENSE|SNP|C|C|A|g.chr1:3761547C>A|ENST00000378230.3|-|6|815|c.490G>T|c.(490-492)Gcc>Tcc|p.A164S|0.4164588528678304|TCTCGAGAGGCCTTTGGGGGC|CEP104_ENST00000378223.3_SPLICE_SITE_p.A164S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3765282 exm2251546 C T . PASS FUNCOTATION=[CEP104|hg19|chr1|3765282|3765282|SILENT||SNP|C|C|T|g.chr1:3765282C>T|ENST00000378230.3|-|3|502|c.177G>A|c.(175-177)ctG>ctA|p.L59L|0.3740648379052369|CAAGTAACTGCAGTTTCCTTA|CEP104_ENST00000378223.3_SILENT_p.L59L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -707,7 +707,7 @@ chr1 3800158 indel.452 TG T . PASS FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|F chr1 3806595 exm8005 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3806595 variant.453 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3806595|3806595|NONSENSE||SNP|G|G|A|g.chr1:3806595G>A|ENST00000361605.3|-|4|760|c.661C>T|c.(661-663)Cga>Tga|p.R221*|0.4314214463840399|CTGAACTCTCGTCTGCTCATT|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 3807537 variant.455 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3807537|3807537|NONSENSE||SNP|G|G|A|g.chr1:3807537G>A|ENST00000361605.3|-|3|313|c.214C>T|c.(214-216)Cag>Tag|p.Q72*|0.47381546134663344|ACAAGCTTCTGTAATTCTGAC|C1orf174_ENST00000486765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 3821782 rs11589102 G A . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3821782|3821782|LINCRNA||SNP|G|G|A|g.chr1:3821782G>A|ENST00000442673.1|+|||c.e1+4587G>A|||0.4688279301745636|CTAAACTAATGTTTTCTTAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102] +chr1 3821782 rs11589102 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK/RP13-15E13.1_ENST00000442673.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102] chr1 3822703 rs10909830 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830] chr1 3823395 kgp9113347 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022] chr1 3825525 rs35383955 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3825525|LINCRNA||SNP|C|C|T|g.chr1:3825525C>T|ENST00000442673.1|+|||c.e2-5434C>T|||0.600997506234414|GTGCCCCAAGCGGAGCTCTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7456_%2C_0.2544|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|35383955|3825525|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053e000100|1|false|126|rs35383955] @@ -764,11 +764,11 @@ chr1 6171835 exm8579 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6171835|6171835|SPLI chr1 6196869 rs2250358 A G . PASS FUNCOTATION=[CHD5|hg19|chr1|6196869|6196869|SILENT||SNP|A|A|G|g.chr1:6196869A>G|ENST00000262450.3|-|16|2593|c.2493T>C|c.(2491-2493)atT>atC|p.I831I|0.6034912718204489|TGGCCTGGTCAATGGTGATGA|CHD5_ENST00000378021.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6203883 exm8731 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6203883|6203883|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6203883G>A|ENST00000262450.3|-|13|2143|c.2043C>T|c.(2041-2043)gaC>gaT|p.D681D|0.6084788029925187|CCCCACTCACGTCCACAATGG|CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6203883 exm8731 G A . PASS FUNCOTATION=[CHD5|hg19|chr1|6203883|6203883|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6203883G>A|ENST00000262450.3|-|13|2143|c.2043C>T|c.(2041-2043)gaC>gaT|p.D681D|0.6084788029925187|CCCCACTCACGTCCACAATGG|CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 6271096 exm8940 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271096|6271096|NONSENSE||SNP|C|C|T|g.chr1:6271096C>T|ENST00000377939.4|+|12|1154|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.6683291770573566|CAGTGACCACCGAGCTGAATT|RNF207_ENST00000377948.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 6271178 exm8946 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271178|6271178|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:6271178C>T|ENST00000377939.4|+|12|1236|c.1109C>T|c.(1108-1110)aCg>aTg|p.T370M|0.6608478802992519|GGTGCTAACACGTGAGCAGCA|RNF207_ENST00000377948.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 6272342 exm8962 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6272342|6272342|NONSENSE||SNP|C|C|T|g.chr1:6272342C>T|ENST00000377939.4|+|14|1475|c.1348C>T|c.(1348-1350)Cga>Tga|p.R450*|0.5860349127182045|GGAGCTGCACCGAGACCTCAC|RNF207_ENST00000377948.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 6272793 exm1853088 G A . PASS FUNCOTATION=[RNF207|hg19|chr1|6272793|6272793|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6272793G>A|ENST00000377939.4|+|15|1661|c.1534G>A|c.(1534-1536)Gcc>Acc|p.A512T|0.5261845386533666|GATTTATGAAGGTTCCAGACA|RNF207_ENST00000377948.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 6296998 psy_rs12135309 C T . PASS FUNCOTATION=[LINC00337|hg19|chr1|6296998|6296998|RNA||SNP|C|C|T|g.chr1:6296998C>T|ENST00000441724.1|+|||c.e2-28C>T|||0.543640897755611|CCCGCCACTGCGCCCGTCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 6271096 exm8940 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271096|6271096|NONSENSE||SNP|C|C|T|g.chr1:6271096C>T|ENST00000377939.4|+|12|1154|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.6683291770573566|CAGTGACCACCGAGCTGAATT|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 6271178 exm8946 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6271178|6271178|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:6271178C>T|ENST00000377939.4|+|12|1236|c.1109C>T|c.(1108-1110)aCg>aTg|p.T370M|0.6608478802992519|GGTGCTAACACGTGAGCAGCA|RNF207_ENST00000377948.2_INTRON/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 6272342 exm8962 C T . PASS FUNCOTATION=[RNF207|hg19|chr1|6272342|6272342|NONSENSE||SNP|C|C|T|g.chr1:6272342C>T|ENST00000377939.4|+|14|1475|c.1348C>T|c.(1348-1350)Cga>Tga|p.R450*|0.5860349127182045|GGAGCTGCACCGAGACCTCAC|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 6272793 exm1853088 G A . PASS FUNCOTATION=[RNF207|hg19|chr1|6272793|6272793|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:6272793G>A|ENST00000377939.4|+|15|1661|c.1534G>A|c.(1534-1536)Gcc>Acc|p.A512T|0.5261845386533666|GATTTATGAAGGTTCCAGACA|RNF207_ENST00000377948.2_THREE_PRIME_UTR/RNF207_ENST00000483336.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 6296998 psy_rs12135309 C T . PASS FUNCOTATION=[LINC00337|hg19|chr1|6296998|6296998|RNA||SNP|C|C|T|g.chr1:6296998C>T|ENST00000441724.1|+|||c.e2-28C>T|||0.543640897755611|CCCGCCACTGCGCCCGTCTTA|LINC00337_ENST00000429480.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6308929 psy_rs12568183 C A . PASS FUNCOTATION=[GPR153|hg19|chr1|6308929|6308929|THREE_PRIME_UTR||SNP|C|C|A|g.chr1:6308929C>A|ENST00000377893.2|-|6|||||0.6034912718204489|ACCCTCCCCCCCCCCGAAGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6378607 exm2252586 G A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6378607 exm9186 G A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6378607|6378607|SILENT||SNP|G|G|A|g.chr1:6378607G>A|ENST00000377855.2|-|6|834|c.687C>T|c.(685-687)agC>agT|p.S229S|0.5236907730673317|GGTGGATCAAGCTGGACTGGC|ACOT7_ENST00000377845.3_SILENT_p.S199S/ACOT7_ENST00000608083.1_SILENT_p.S187S/ACOT7_ENST00000361521.4_SILENT_p.S219S/ACOT7_ENST00000377842.3_SILENT_p.S178S/ACOT7_ENST00000541130.1_SILENT_p.S199S/ACOT7_ENST00000545482.1_SILENT_p.S114S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -776,20 +776,20 @@ chr1 6409810 exm2233698 C A . PASS FUNCOTATION=[ACOT7|hg19|chr1|6409810|6409810| chr1 6529605 exm9556 A G . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400] chr1 6529605 exm9556 A G . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6529605|6529605|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr1:6529605A>G|ENST00000377748.1|-|18|2661|c.2163T>C|c.(2161-2163)ccT>ccC|p.P721P|0.6084788029925187|GCTCCTTACCAGGGTCCCGTA|PLEKHG5_ENST00000340850.5_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000400913.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377732.1_SPLICE_SITE_p.P681P/PLEKHG5_ENST00000400915.3_SPLICE_SITE_p.P700P/PLEKHG5_ENST00000377728.3_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000377740.3_SPLICE_SITE_p.P721P/PLEKHG5_ENST00000377725.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000544978.1_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000537245.1_SPLICE_SITE_p.P723P/PLEKHG5_ENST00000377737.2_SPLICE_SITE_p.P644P/PLEKHG5_ENST00000535355.1_SPLICE_SITE_p.P713P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150807400|6529605|false|true|0|false|0|true|0.997871_%2C_0.00212927|false|false|false|SNV|true|0x050200000305040426000100|1|false|134|rs150807400] chr1 6534226 exm9636 T C . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6534226|6534226|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:6534226T>C|ENST00000377748.1|-|||c.e8+2A>G|c.e8-2||0.6783042394014963|TGGCTGGGGCTGCATGTGGGG|PLEKHG5_ENST00000340850.5_SPLICE_SITE/PLEKHG5_ENST00000400913.1_SPLICE_SITE/PLEKHG5_ENST00000377732.1_SPLICE_SITE/PLEKHG5_ENST00000400915.3_SPLICE_SITE/PLEKHG5_ENST00000377728.3_SPLICE_SITE/PLEKHG5_ENST00000377740.3_SPLICE_SITE/PLEKHG5_ENST00000377725.1_SPLICE_SITE/PLEKHG5_ENST00000544978.1_SPLICE_SITE/PLEKHG5_ENST00000537245.1_SPLICE_SITE/PLEKHG5_ENST00000377737.2_SPLICE_SITE/PLEKHG5_ENST00000535355.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144750655|6534226|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000200005040436000100|1|false|134|rs144750655] -chr1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429] +chr1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429] chr1 6579843 rs1010584 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6579843|6579843|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6579843C>T|ENST00000377748.1|-|1|||||0.5860349127182045|ACTTCGCAGCCGCCGCTCACA|PLEKHG5_ENST00000377740.3_FIVE_PRIME_UTR/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2646_%2C_0.7354|false|false|1||false|true|false|PLEKHG5:57449|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1010584|6579843|false|false|0|true|0|false|0.306271_%2C_0.693729|false|false|true|SNV|true|0x05010040000515053f000100|1|false|86|rs1010584] chr1 6592659 newrs146978611 G A . PASS FUNCOTATION=[NOL9|hg19|chr1|6592659|6592659|NONSENSE||SNP|G|G|A|g.chr1:6592659G>A|ENST00000377705.5|-|8|1432|c.1399C>T|c.(1399-1401)Cga>Tga|p.R467*|0.44139650872817954|CTGAAACGTCGATTTCTCATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 6615467 exm9789 C T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6615467|6615467|NONSENSE||SNP|C|C|T|g.chr1:6615467C>T|ENST00000333172.6|+|1|227|c.34C>T|c.(34-36)Cag>Tag|p.Q12*|0.6134663341645885|GGTCGGCCTGCAGCTTCTCAT|TAS1R1_ENST00000351136.3_NONSENSE_p.Q12*/TAS1R1_ENST00000328191.4_NONSENSE_p.Q12*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9978_%2C_0.002196|false|false|1||false|false|false|TAS1R1:80835_%7C_NOL9:79707|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|149094445|6615467|false|false|0|false|0|true|0.99739_%2C_0.00261007|false|false|false|SNV|true|0x050000020705040436000100|1|false|134|rs149094445] -chr1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312] -chr1 6635448 exm9863 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635448|6635448|NONSENSE||SNP|G|G|A|g.chr1:6635448G>A|ENST00000333172.6|+|3|1449|c.1256G>A|c.(1255-1257)tGg>tAg|p.W419*|0.5511221945137157|GTCTACCCCTGGCAGGTAAGA|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_NONSENSE_p.W419*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TAS1R1:80835|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|140193828|6635448|false|true|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050200080605040436000100|1|false|134|rs140193828] -chr1 6639436 exm9930 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6639436|6639436|NONSENSE||SNP|G|G|A|g.chr1:6639436G>A|ENST00000333172.6|+|6|2511|c.2318G>A|c.(2317-2319)tGg>tAg|p.W773*|0.5760598503740648|TTCGTGTCCTGGATCGCCTTC|TAS1R1_ENST00000351136.3_NONSENSE_p.W519*/TAS1R1_ENST00000328191.4_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|TAS1R1:80835_%7C_ZBTB48:3104|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|115030111|6639436|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000020605040436000100|1|false|132|rs115030111] +chr1 6615467 exm9789 C T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6615467|6615467|NONSENSE||SNP|C|C|T|g.chr1:6615467C>T|ENST00000333172.6|+|1|227|c.34C>T|c.(34-36)Cag>Tag|p.Q12*|0.6134663341645885|GGTCGGCCTGCAGCTTCTCAT|TAS1R1_ENST00000351136.3_NONSENSE_p.Q12*/TAS1R1_ENST00000328191.4_NONSENSE_p.Q12*/NOL9_ENST00000377705.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9978_%2C_0.002196|false|false|1||false|false|false|TAS1R1:80835_%7C_NOL9:79707|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|149094445|6615467|false|false|0|false|0|true|0.99739_%2C_0.00261007|false|false|false|SNV|true|0x050000020705040436000100|1|false|134|rs149094445] +chr1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312] +chr1 6635448 exm9863 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635448|6635448|NONSENSE||SNP|G|G|A|g.chr1:6635448G>A|ENST00000333172.6|+|3|1449|c.1256G>A|c.(1255-1257)tGg>tAg|p.W419*|0.5511221945137157|GTCTACCCCTGGCAGGTAAGA|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_NONSENSE_p.W419*/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|TAS1R1:80835|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|140193828|6635448|false|true|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050200080605040436000100|1|false|134|rs140193828] +chr1 6639436 exm9930 G A . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6639436|6639436|NONSENSE||SNP|G|G|A|g.chr1:6639436G>A|ENST00000333172.6|+|6|2511|c.2318G>A|c.(2317-2319)tGg>tAg|p.W773*|0.5760598503740648|TTCGTGTCCTGGATCGCCTTC|TAS1R1_ENST00000351136.3_NONSENSE_p.W519*/TAS1R1_ENST00000328191.4_THREE_PRIME_UTR/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|TAS1R1:80835_%7C_ZBTB48:3104|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|115030111|6639436|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000020605040436000100|1|false|132|rs115030111] chr1 6647283 variant.558 C T . PASS FUNCOTATION=[ZBTB48|hg19|chr1|6647283|6647283|NONSENSE||SNP|C|C|T|g.chr1:6647283C>T|ENST00000377674.4|+|6|1314|c.1156C>T|c.(1156-1158)Cag>Tag|p.Q386*|0.5960099750623441|CTGCTCCCAGCAGTTCATGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6690413 variant.571 G A . PASS FUNCOTATION=[THAP3|hg19|chr1|6690413|6690413|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6690413G>A|ENST00000054650.4|+|4|491|c.333G>A|c.(331-333)aaG>aaA|p.K111K|0.5386533665835411|AGAAAGAAAAGGTGAGTGCAC|THAP3_ENST00000377627.3_SPLICE_SITE_p.K111K/THAP3_ENST00000307896.6_SPLICE_SITE_p.K110K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6690413 variant.571 G A . PASS FUNCOTATION=[THAP3|hg19|chr1|6690413|6690413|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:6690413G>A|ENST00000054650.4|+|4|491|c.333G>A|c.(331-333)aaG>aaA|p.K111K|0.5386533665835411|AGAAAGAAAAGGTGAGTGCAC|THAP3_ENST00000377627.3_SPLICE_SITE_p.K111K/THAP3_ENST00000307896.6_SPLICE_SITE_p.K110K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6694207 rs12727844 A G . PASS FUNCOTATION=[THAP3|hg19|chr1|6694207|6694207|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:6694207A>G|ENST00000377627.3|+|5|||||0.5236907730673317|TGAACACACAATACACGGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6695123 rs1043681 C T . PASS FUNCOTATION=[DNAJC11|hg19|chr1|6695123|6695123|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:6695123C>T|ENST00000377577.5|-|16|||||0.571072319201995|GGTGGAATGACTTGAGCAGCT|THAP3_ENST00000377627.3_THREE_PRIME_UTR/DNAJC11_ENST00000349363.6_INTRON/DNAJC11_ENST00000465508.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 6785946 psy_rs4390192 G T . PASS FUNCOTATION=[RP11-242F24.1|hg19|chr1|6785946|6785946|LINCRNA||SNP|G|G|T|g.chr1:6785946G>T|ENST00000432429.1|+|||c.e2-51G>T|||0.5187032418952618|TATGTCTGTTGCACCCCAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 7826559 var_1_7826559 C T . PASS FUNCOTATION=[CAMTA1|hg19|chr1|7826559|7826559|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:7826559C>T|ENST00000303635.7|+|23|||||0.4139650872817955|TGAAGACATACAGCAGCATCC|CAMTA1_ENST00000476864.1_NONSENSE_p.Q231*/CAMTA1_ENST00000439411.2_NONSENSE_p.Q1653*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 7826559 var_1_7826559 C T . PASS FUNCOTATION=[CAMTA1|hg19|chr1|7826559|7826559|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:7826559C>T|ENST00000303635.7|+|23|||||0.4139650872817955|TGAAGACATACAGCAGCATCC|CAMTA1_ENST00000476864.1_NONSENSE_p.Q231*/CAMTA1_ENST00000439411.2_NONSENSE_p.Q1653*/VAMP3_ENST00000054666.6_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 7838228 exm10611 C T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838228|7838228|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:7838228C>T|ENST00000470357.1|+|4|772|c.198C>T|c.(196-198)atC>atT|p.I66I|0.3865336658354115|TCATCATCATCGGTGAGTTAC|VAMP3_ENST00000054666.6_SPLICE_SITE_p.I94I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 7838228 exm10611 C T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838228|7838228|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:7838228C>T|ENST00000470357.1|+|4|772|c.198C>T|c.(196-198)atC>atT|p.I66I|0.3865336658354115|TCATCATCATCGGTGAGTTAC|VAMP3_ENST00000054666.6_SPLICE_SITE_p.I94I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 7838230 variant.587 G T . PASS FUNCOTATION=[VAMP3|hg19|chr1|7838230|7838230|SPLICE_SITE|INTRON|SNP|G|G|T|g.chr1:7838230G>T|ENST00000470357.1|+|||c.e4+1G>T|c.e4+1||0.3865336658354115|ATCATCATCGGTGAGTTACCC|VAMP3_ENST00000054666.6_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -801,12 +801,12 @@ chr1 7879481 var_1_7879481 G A . PASS FUNCOTATION=[PER3|hg19|chr1|7879481|787948 chr1 7897138 indel.606 CA C . PASS FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726] chr1 7897180 variant.607 C T . PASS FUNCOTATION=[PER3|hg19|chr1|7897180|7897180|NONSENSE||SNP|C|C|T|g.chr1:7897180C>T|ENST00000377532.3|+|20|3744|c.3520C>T|c.(3520-3522)Cag>Tag|p.Q1174*|0.3940149625935162|GATTCAAAGCCAGACTGTCAC|PER3_ENST00000361923.2_NONSENSE_p.Q1165*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|748839772|7897180|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000605000402000100|1|false|144|rs748839772] chr1 7907859 variant.609 C T . PASS FUNCOTATION=[UTS2|hg19|chr1|7907859|7907859|SILENT||SNP|C|C|T|g.chr1:7907859C>T|ENST00000361696.5|-|4|374|c.342G>A|c.(340-342)gaG>gaA|p.E114E|0.35910224438902744|AATCAGGAGTCTCACGTTTCT|UTS2_ENST00000054668.5_SILENT_p.E129E/UTS2_ENST00000377516.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|UTS2:10911|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|757148544|7907859|false|false|0|false|0|true|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|144|rs757148544] -chr1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648] +chr1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648] chr1 7980338 exm2264984 A G . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7980338|7980338|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:7980338A>G|ENST00000377507.3|-|8|||||0.3865336658354115|ACTAGCTCAAACCTGTTAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 7998254 exm10928 T G . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7998254|7998254|SPLICE_SITE|MISSENSE|SNP|T|T|G|g.chr1:7998254T>G|ENST00000377507.3|-|4|512|c.345A>C|c.(343-345)aaA>aaC|p.K115N|0.3690773067331671|CAAACGTACCTTTTTTTGTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 7998390 exm10934 C T . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7998390|7998390|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:7998390C>T|ENST00000377507.3|-|4|376|c.209G>A|c.(208-210)gGt>gAt|p.G70D|0.4014962593516209|CCTGAAAACACCTACAAAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 7999982 variant.617 G A . PASS FUNCOTATION=[TNFRSF9|hg19|chr1|7999982|7999982|NONSENSE||SNP|G|G|A|g.chr1:7999982G>A|ENST00000377507.3|-|2|240|c.73C>T|c.(73-75)Cag>Tag|p.Q25*|0.40399002493765584|CAAGGATCCTGCAATGATCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 8021973 exm-rs35675666 G T . PASS FUNCOTATION=[PARK7|hg19|chr1|8021973|8021973|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:8021973G>T|ENST00000377491.1|+|1|||||0.6583541147132169|GCGGGGCCTGGGTCGGGGCCG|PARK7_ENST00000493678.1_INTRON/PARK7_ENST00000338639.5_INTRON/PARK7_ENST00000377493.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8518_%2C_._%2C_0.1482|false|false|1||false|true|true|PARK7:11315|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|true|false|35675666|8021973|false|false|0|true|0|false|0.816402_%2C_._%2C_0.183598|false|false|false|SNV|true|0x0501280a0005170537020100|1|false|126|rs35675666] +chr1 8021973 exm-rs35675666 G T . PASS FUNCOTATION=[PARK7|hg19|chr1|8021973|8021973|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:8021973G>T|ENST00000377491.1|+|1|||||0.6583541147132169|GCGGGGCCTGGGTCGGGGCCG|PARK7_ENST00000493678.1_INTRON/PARK7_ENST00000338639.5_INTRON/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000377488.1_FIVE_PRIME_FLANK/PARK7_ENST00000497113.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8518_%2C_._%2C_0.1482|false|false|1||false|true|true|PARK7:11315|true|true|true|true|true|false|true|false|false|false|false|false|false|false|false|true|true|false|true|false|35675666|8021973|false|false|0|true|0|false|0.816402_%2C_._%2C_0.183598|false|false|false|SNV|true|0x0501280a0005170537020100|1|false|126|rs35675666] chr1 8029464 variant.620 G A . PASS FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196] chr1 8029464 variant.620 G A . PASS FUNCOTATION=[PARK7|hg19|chr1|8029464|8029464|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:8029464G>A|ENST00000493678.1|+|4|319|c.252G>A|c.(250-252)gaG>gaA|p.E84E|0.3192019950124688|ATTTATCTGAGGTAAAAAATT|PARK7_ENST00000377491.1_SPLICE_SITE_p.E84E/PARK7_ENST00000338639.5_SPLICE_SITE_p.E84E/PARK7_ENST00000377488.1_SPLICE_SITE_p.E84E/PARK7_ENST00000377493.5_INTRON/PARK7_ENST00000497113.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|749774196|8029464|false|false|0|false|0|true||false|false|false|SNV|false|0x050000080305000402000100|1|false|144|rs749774196] chr1 8045014 indel.625 GGCC G . PASS FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312] @@ -858,13 +858,13 @@ chr1 9097251 kgp9153910 A G . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097251|9097251 chr1 9097696 exm11736 G C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9097696|9097696|NONSENSE||SNP|G|G|C|g.chr1:9097696G>C|ENST00000377424.4|-|12|1635|c.1455C>G|c.(1453-1455)taC>taG|p.Y485*|0.5286783042394015|CCTTTTCCGGGTACACTTCAG|SLC2A5_ENST00000536305.1_NONSENSE_p.Y426*/SLC2A5_ENST00000535586.1_NONSENSE_p.Y370*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9117596 kgp15820906 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9117596|9117596|SILENT||SNP|C|C|T|g.chr1:9117596C>T|ENST00000377424.4|-|3|384|c.204G>A|c.(202-204)acG>acA|p.T68T|0.43640897755610975|ACCACAGCAACGTCAAGGGGA|SLC2A5_ENST00000377414.3_SILENT_p.T68T/SLC2A5_ENST00000535586.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9118247 exm1921670 A C . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9118247|9118247|NONSENSE||SNP|A|A|C|g.chr1:9118247A>C|ENST00000377424.4|-|2|276|c.96T>G|c.(94-96)taT>taG|p.Y32*|0.5660847880299252|CGTTGTACCCATACTGGAAGG|SLC2A5_ENST00000377414.3_NONSENSE_p.Y32*/SLC2A5_ENST00000535586.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 9129620 kgp4856177 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9129620|9129620|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9129620C>T|ENST00000377424.4|-|1|||||0.5261845386533666|GGCAGAGTGCCGCTCACCTCC|SLC2A5_ENST00000377414.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 9129620 kgp4856177 C T . PASS FUNCOTATION=[SLC2A5|hg19|chr1|9129620|9129620|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:9129620C>T|ENST00000377424.4|-|1|||||0.5261845386533666|GGCAGAGTGCCGCTCACCTCC|SLC2A5_ENST00000377414.3_FIVE_PRIME_UTR/SLC2A5_ENST00000535586.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9164133 rs3737669 G A . PASS FUNCOTATION=[GPR157|hg19|chr1|9164133|9164133|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:9164133G>A|ENST00000377411.4|-|4|||||0.5586034912718204|GGGTCCCTCAGATTGTAAACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9171336 exm11874 G A . PASS FUNCOTATION=[GPR157|hg19|chr1|9171336|9171336|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:9171336G>A|ENST00000377411.4|-|2|739|c.596C>T|c.(595-597)gCg>gTg|p.A199V|0.6084788029925187|AGCGCCTACCGCTCTGTTGAT|GPR157_ENST00000414642.2_SPLICE_SITE_p.A199V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9250991 rs10864392 C T . PASS FUNCOTATION=[RP3-510D11.2|hg19|chr1|9250991|9250991|LINCRNA||SNP|C|C|T|g.chr1:9250991C>T|ENST00000412639.2|+|||c.e3-461C>T|||0.5236907730673317|TGCCGATTGACAAGGCCTTTT|RP3-510D11.1_ENST00000437157.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9256200 rs4908823 G A . PASS FUNCOTATION=[RP3-510D11.1|hg19|chr1|9256200|9256200|LINCRNA||SNP|G|G|A|g.chr1:9256200G>A|ENST00000437157.2|-|||c.e1-6438C>T|||0.5361596009975063|ATCCATGAGGGCTCCTGTCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9307033 rs7524046 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9307033|9307033|SILENT||SNP|G|G|A|g.chr1:9307033G>A|ENST00000377403.2|+|3|938|c.636G>A|c.(634-636)gcG>gcA|p.A212A|0.5910224438902744|AGGCTGTGGCGCAGATCCTGC|H6PD_ENST00000602477.1_SILENT_p.A223A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 9324385 exm12065 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9324385|9324385|NONSENSE||SNP|G|G|A|g.chr1:9324385G>A|ENST00000377403.2|+|5|2135|c.1833G>A|c.(1831-1833)tgG>tgA|p.W611*|0.6658354114713217|GCTTCCCCTGGGCCCACACGC|H6PD_ENST00000602477.1_NONSENSE_p.W622*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 9324385 exm12065 G A . PASS FUNCOTATION=[H6PD|hg19|chr1|9324385|9324385|NONSENSE||SNP|G|G|A|g.chr1:9324385G>A|ENST00000377403.2|+|5|2135|c.1833G>A|c.(1831-1833)tgG>tgA|p.W611*|0.6658354114713217|GCTTCCCCTGGGCCCACACGC|H6PD_ENST00000602477.1_NONSENSE_p.W622*/H6PD_ENST00000495451.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9326132 rs17033642 A C . PASS FUNCOTATION=[H6PD|hg19|chr1|9326132|9326132|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:9326132A>C|ENST00000377403.2|+|5|||||0.5985037406483791|GATCCAGTTAAATCACCCACT|H6PD_ENST00000602477.1_THREE_PRIME_UTR/H6PD_ENST00000495451.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9327413 rs11121354 T G . PASS FUNCOTATION=[H6PD|hg19|chr1|9327413|9327413|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:9327413T>G|ENST00000377403.2|+|5|||||0.6234413965087282|GTGCCGGATTTCATTTCCCTC|H6PD_ENST00000602477.1_THREE_PRIME_UTR/H6PD_ENST00000495451.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 9427508 exm1939653 C T . PASS FUNCOTATION=[SPSB1|hg19|chr1|9427508|9427508|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:9427508C>T|ENST00000328089.6|+|3|1037|c.696C>T|c.(694-696)ccC>ccT|p.P232P|0.5835411471321695|TCTCCCCAGCCGAGCCGCTGC|SPSB1_ENST00000357898.3_SPLICE_SITE_p.P232P/SPSB1_ENST00000377399.2_SPLICE_SITE_p.P232P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -887,8 +887,8 @@ chr1 9996684 exm1958934 C T . PASS FUNCOTATION=[LZIC|hg19|chr1|9996684|9996684|F chr1 10042426 variant.688 G A . PASS FUNCOTATION=[NMNAT1|hg19|chr1|10042426|10042426|NONSENSE||SNP|G|G|A|g.chr1:10042426G>A|ENST00000377205.1|+|5|651|c.507G>A|c.(505-507)tgG>tgA|p.W169*|0.45885286783042395|CCAATTTGTGGAAGAGTGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 10438687 rs1536262 C T . PASS FUNCOTATION=[KIF1B|hg19|chr1|10438687|10438687|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:10438687C>T|ENST00000377081.1|+|48|||||0.5087281795511222|TCCCGCTTCACGCAGCAAAGG|KIF1B_ENST00000377086.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 10478954 indel.710 TC T . PASS FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628] -chr1 10489949 psy_rs147415571 G A . PASS FUNCOTATION=[RP4-736L20.3|hg19|chr1|10489949|10489949|RNA||SNP|G|G|A|g.chr1:10489949G>A|ENST00000607572.1|-|||c.e1+11C>T|||0.4688279301745636|TGGGTTTGATGGTCTCACTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 10494013 newrs138619348 C T . PASS FUNCOTATION=[APITD1-CORT|hg19|chr1|10494013|10494013|NONSENSE||SNP|C|C|T|g.chr1:10494013C>T|ENST00000400900.2|+|2|582|c.166C>T|c.(166-168)Cga>Tga|p.R56*|0.4688279301745636|GCTGACTTTCCGACAGTGTGG|APITD1_ENST00000309048.3_NONSENSE_p.R56*/APITD1-CORT_ENST00000470413.2_NONSENSE_p.R56*/APITD1_ENST00000602787.1_NONSENSE_p.R56*/APITD1_ENST00000602296.1_NONSENSE_p.R56*/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10489949 psy_rs147415571 G A . PASS FUNCOTATION=[APITD1|hg19|chr1|10489949|10489949|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:10489949G>A|ENST00000309048.3|+||||||0.4688279301745636|TGGGTTTGATGGTCTCACTTC|APITD1-CORT_ENST00000400900.2_FIVE_PRIME_FLANK/APITD1_ENST00000462462.1_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000465026.1_FIVE_PRIME_FLANK/APITD1-CORT_ENST00000470413.2_FIVE_PRIME_FLANK/APITD1_ENST00000602296.1_FIVE_PRIME_FLANK/APITD1_ENST00000602787.1_FIVE_PRIME_FLANK/RP4-736L20.3_ENST00000607572.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10494013 newrs138619348 C T . PASS FUNCOTATION=[APITD1-CORT|hg19|chr1|10494013|10494013|NONSENSE||SNP|C|C|T|g.chr1:10494013C>T|ENST00000400900.2|+|2|582|c.166C>T|c.(166-168)Cga>Tga|p.R56*|0.4688279301745636|GCTGACTTTCCGACAGTGTGG|APITD1_ENST00000309048.3_NONSENSE_p.R56*/APITD1-CORT_ENST00000470413.2_NONSENSE_p.R56*/APITD1_ENST00000602787.1_NONSENSE_p.R56*/APITD1_ENST00000602296.1_NONSENSE_p.R56*/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON/RP4-736L20.3_ENST00000607572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 10502373 exm13281 C T . PASS FUNCOTATION=[APITD1|hg19|chr1|10502373|10502373|NONSENSE||SNP|C|C|T|g.chr1:10502373C>T|ENST00000309048.3|+|5|403|c.328C>T|c.(328-330)Cga>Tga|p.R110*|0.3740648379052369|TAACCTAGAACGAAAAGCACA|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1_ENST00000462462.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 10502710 rs2847337 A G . PASS FUNCOTATION=[APITD1|hg19|chr1|10502710|10502710|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:10502710A>G|ENST00000309048.3|+|5|||||0.32169576059850374|GTGTGTGATCAAATGGTATAT|APITD1-CORT_ENST00000400900.2_INTRON/APITD1-CORT_ENST00000470413.2_INTRON/APITD1_ENST00000602787.1_INTRON/APITD1_ENST00000602296.1_INTRON/APITD1-CORT_ENST00000465026.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 10596294 variant.728 C T . PASS FUNCOTATION=[PEX14|hg19|chr1|10596294|10596294|NONSENSE||SNP|C|C|T|g.chr1:10596294C>T|ENST00000356607.4|+|3|189|c.109C>T|c.(109-111)Cag>Tag|p.Q37*|0.48877805486284287|GAAGTTTCTACAGAATTCCCG|PEX14_ENST00000538836.1_INTRON/PEX14_ENST00000492696.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -897,7 +897,7 @@ chr1 11087334 newrs137990115 C A . PASS FUNCOTATION=[MASP2|hg19|chr1|11087334|11 chr1 11097774 variant.758 G T . PASS FUNCOTATION=[MASP2|hg19|chr1|11097774|11097774|NONSENSE||SNP|G|G|T|g.chr1:11097774G>T|ENST00000400897.3|-|7|1000|c.984C>A|c.(982-984)tgC>tgA|p.C328*|0.4089775561097257|AGCCAGTCTCGCAAAAGATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 11106783 exm14040 G T . PASS FUNCOTATION=[MASP2|hg19|chr1|11106783|11106783|NONSENSE||SNP|G|G|T|g.chr1:11106783G>T|ENST00000400897.3|-|3|258|c.242C>A|c.(241-243)tCg>tAg|p.S81*|0.6433915211970075|CTTGGCCCCCGAGCTCAGCTG|MASP2_ENST00000400898.3_NONSENSE_p.S81*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 11128123 exm1694875 T A . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11128123|11128123|NONSENSE||SNP|T|T|A|g.chr1:11128123T>A|ENST00000376936.4|-|24|2619|c.2569A>T|c.(2569-2571)Aaa>Taa|p.K857*|0.5311720698254364|TGTTTAATTTTTTTGGCTGCA|EXOSC10_ENST00000304457.7_NONSENSE_p.K832*/EXOSC10_ENST00000544779.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 11147637 var_1_11147637 G T . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11147637|11147637|NONSENSE||SNP|G|G|T|g.chr1:11147637G>T|ENST00000376936.4|-|9|1007|c.957C>A|c.(955-957)taC>taA|p.Y319*|0.38403990024937656|GGAAGCTCCTGTAAGAGTGGT|EXOSC10_ENST00000304457.7_NONSENSE_p.Y319*/EXOSC10_ENST00000544779.1_NONSENSE_p.Y319*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 11147637 var_1_11147637 G T . PASS FUNCOTATION=[EXOSC10|hg19|chr1|11147637|11147637|NONSENSE||SNP|G|G|T|g.chr1:11147637G>T|ENST00000376936.4|-|9|1007|c.957C>A|c.(955-957)taC>taA|p.Y319*|0.38403990024937656|GGAAGCTCCTGTAAGAGTGGT|EXOSC10_ENST00000304457.7_NONSENSE_p.Y319*/EXOSC10_ENST00000544779.1_NONSENSE_p.Y319*/EXOSC10_ENST00000485606.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 11253688 exm14418 C T . PASS FUNCOTATION=[ANGPTL7|hg19|chr1|11253688|11253688|NONSENSE||SNP|C|C|T|g.chr1:11253688C>T|ENST00000376819.3|+|3|768|c.529C>T|c.(529-531)Cga>Tga|p.R177*|0.5960099750623441|CATCCAGAGACGAAAAAGTGG|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 11253722 exm14420 G A . PASS FUNCOTATION=[ANGPTL7|hg19|chr1|11253722|11253722|NONSENSE||SNP|G|G|A|g.chr1:11253722G>A|ENST00000376819.3|+|3|802|c.563G>A|c.(562-564)tGg>tAg|p.W188*|0.5860349127182045|TACCGGGACTGGAAGCAGTAC|MTOR_ENST00000361445.4_INTRON/ANGPTL7_ENST00000476934.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 11346336 psy_rs11580061 A G . PASS FUNCOTATION=[UBIAD1|hg19|chr1|11346336|11346336|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:11346336A>G|ENST00000376810.5|+|2|||||0.38902743142144636|TGTGTTCTTAAAGATAATATG|UBIAD1_ENST00000376804.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -910,12 +910,12 @@ chr1 11810674 rs1128059 G A . PASS FUNCOTATION=[AGTRAP|hg19|chr1|11810674|118106 chr1 11846252 rs4846048 G A . PASS FUNCOTATION=[MTHFR|hg19|chr1|11846252|11846252|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:11846252G>A|ENST00000376592.1|-|11|||||0.428927680798005|ACACCAACAAGTGGTGATAAG|C1orf167_ENST00000433342.1_INTRON/MTHFR_ENST00000376583.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2935_%2C_0.7065|false|false|1||false|true|true|MTHFR:4524_%7C_C1orf167:284498|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|true|false|false|4846048|11846252|false|false|0|true|0|false|0.359949_%2C_0.640051|false|true|false|SNV|true|0x0501288c000517053f000100|1|false|111|rs4846048] chr1 11855351 newrs147750177 C A . PASS FUNCOTATION=[MTHFR|hg19|chr1|11855351|11855351|NONSENSE||SNP|C|C|A|g.chr1:11855351C>A|ENST00000376585.1|-|7|2010|c.958G>T|c.(958-960)Gag>Tag|p.E320*|0.5910224438902744|TCCTTGATCTCCTGTGGCACC|MTHFR_ENST00000376592.1_NONSENSE_p.E279*/MTHFR_ENST00000376590.3_NONSENSE_p.E279*/MTHFR_ENST00000376583.3_NONSENSE_p.E320*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 11894624 variant.859 G A . PASS FUNCOTATION=[CLCN6|hg19|chr1|11894624|11894624|NONSENSE||SNP|G|G|A|g.chr1:11894624G>A|ENST00000346436.6|+|17|1822|c.1770G>A|c.(1768-1770)tgG>tgA|p.W590*|0.5211970074812967|TTCTGGAATGGGAGACAGAGG|CLCN6_ENST00000376496.3_NONSENSE_p.W590*/CLCN6_ENST00000376487.3_NONSENSE_p.W568*/CLCN6_ENST00000312413.6_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 11901592 rs198415 T C . PASS FUNCOTATION=[CLCN6|hg19|chr1|11901592|11901592|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11901592T>C|ENST00000346436.6|+|23|||||0.5860349127182045|TACATGGTATTAGTCCCAGCA|CLCN6_ENST00000312413.6_THREE_PRIME_UTR/NPPA-AS1_ENST00000446542.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8381_%2C_0.1619|false|false|1||false|true|false|CLCN6:1185_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|198415|11901592|false|false|0|true|0|false|0.760286_%2C_0.239714|false|true|false|SNV|true|0x05010088000515053f000100|1|false|79|rs198415] +chr1 11901592 rs198415 T C . PASS FUNCOTATION=[CLCN6|hg19|chr1|11901592|11901592|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:11901592T>C|ENST00000346436.6|+|23|||||0.5860349127182045|TACATGGTATTAGTCCCAGCA|CLCN6_ENST00000312413.6_THREE_PRIME_UTR/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8381_%2C_0.1619|false|false|1||false|true|false|CLCN6:1185_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|198415|11901592|false|false|0|true|0|false|0.760286_%2C_0.239714|false|true|false|SNV|true|0x05010088000515053f000100|1|false|79|rs198415] chr1 11906068 exm15531 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065] chr1 11906068 rs5065 A G . PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065] chr1 12025599 exm15795 C G . PASS FUNCOTATION=[PLOD1|hg19|chr1|12025599|12025599|NONSENSE||SNP|C|C|G|g.chr1:12025599C>G|ENST00000196061.4|+|14|1560|c.1533C>G|c.(1531-1533)taC>taG|p.Y511*|0.6384039900249376|TAGACAGCTACCGCACCACCC|PLOD1_ENST00000376369.3_NONSENSE_p.Y558*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12069756 indel.888 CACTT C . PASS FUNCOTATION=[MFN2|hg19|chr1|12069757|12069760|FRAME_SHIFT_DEL||DEL|ACTT|ACTT|-|g.chr1:12069757_12069760delACTT|ENST00000235329.5|+|18|2499_2502|c.2178_2181delACTT|c.(2176-2181)tcacttfs|p.L727fs|0.5693069306930693|TTCTTGACTCACTTCAGAGCAAAG|MFN2_ENST00000444836.1_FRAME_SHIFT_DEL_p.L727fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MFN2:9927|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|772270096|12069757|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs772270096] -chr1 12082195 exm15947 C A . PASS FUNCOTATION=[MIIP|hg19|chr1|12082195|12082195|NONSENSE||SNP|C|C|A|g.chr1:12082195C>A|ENST00000235332.4|+|3|327|c.158C>A|c.(157-159)tCg>tAg|p.S53*|0.6483790523690773|GAGACTCCATCGACCCCAGAG|MIIP_ENST00000436478.2_NONSENSE_p.S53*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 12082195 exm15947 C A . PASS FUNCOTATION=[MIIP|hg19|chr1|12082195|12082195|NONSENSE||SNP|C|C|A|g.chr1:12082195C>A|ENST00000235332.4|+|3|327|c.158C>A|c.(157-159)tCg>tAg|p.S53*|0.6483790523690773|GAGACTCCATCGACCCCAGAG|MIIP_ENST00000436478.2_NONSENSE_p.S53*/MIIP_ENST00000466860.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12090140 exm16010 C T . PASS FUNCOTATION=[MIIP|hg19|chr1|12090140|12090140|NONSENSE||SNP|C|C|T|g.chr1:12090140C>T|ENST00000235332.4|+|8|1070|c.901C>T|c.(901-903)Cga>Tga|p.R301*|0.6533665835411472|CATCCACCGGCGAAAGAGCTT|MIIP_ENST00000436478.2_INTRON/MIIP_ENST00000466860.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12318010 variant.909 T G . PASS FUNCOTATION=[VPS13D|hg19|chr1|12318010|12318010|NONSENSE||SNP|T|T|G|g.chr1:12318010T>G|ENST00000358136.3|+|10|1090|c.960T>G|c.(958-960)taT>taG|p.Y320*|0.4164588528678304|AATGGTGGTATTTTGCTTTGA|VPS13D_ENST00000356315.4_NONSENSE_p.Y320*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12336193 variant.914 G T . PASS FUNCOTATION=[VPS13D|hg19|chr1|12336193|12336193|NONSENSE||SNP|G|G|T|g.chr1:12336193G>T|ENST00000358136.3|+|19|2678|c.2548G>T|c.(2548-2550)Gag>Tag|p.E850*|0.4239401496259352|ACATGTGGTAGAGAAGTTCAA|VPS13D_ENST00000356315.4_NONSENSE_p.E850*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -923,7 +923,7 @@ chr1 12446382 variant.919 C T . PASS FUNCOTATION=[VPS13D|hg19|chr1|12446382|1244 chr1 12627990 kgp15181256 T C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12627990|12627990|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:12627990T>C|ENST00000376223.2|-|6|||||0.4937655860349127|AACCAGTTTGTGCAAGCTGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12628067 kgp15637314 A C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12628067|12628067|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:12628067A>C|ENST00000376223.2|-|6|||||0.5112219451371571|TGGTCTATGCACACTGCTGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12628188 rs4580 T C . PASS FUNCOTATION=[DHRS3|hg19|chr1|12628188|12628188|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:12628188T>C|ENST00000376223.2|-|6|||||0.5511221945137157|GGGTCAGTTATACCCATCAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 12677525 kgp7821980 G A . PASS FUNCOTATION=[DHRS3|hg19|chr1|12677525|12677525|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:12677525G>A|ENST00000376223.2|-|1|||||0.5112219451371571|GTGAGAAAAAGAAAAAAAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 12677525 kgp7821980 G A . PASS FUNCOTATION=[DHRS3|hg19|chr1|12677525|12677525|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:12677525G>A|ENST00000376223.2|-|1|||||0.5112219451371571|GTGAGAAAAAGAAAAAAAAAA|DHRS3_ENST00000482265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12726174 newrs138451476 C T . PASS FUNCOTATION=[AADACL4|hg19|chr1|12726174|12726174|NONSENSE||SNP|C|C|T|g.chr1:12726174C>T|ENST00000376221.1|+|4|652|c.652C>T|c.(652-654)Cag>Tag|p.Q218*|0.5511221945137157|GATCCGGGCTCAGGTTCTGAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12776218 rs3000860 A C . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776218|12776218|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:12776218A>C|ENST00000359318.5|+|1|||||0.5586034912718204|CAGCAGCCTGAGTGTTCTCAC|AADACL3_ENST00000332530.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1436_%2C_0.8564|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|3000860|12776218|true|false|0|true|0|false||false|false|true|SNV|true|0x05010040060517053f000100|1|false|101|rs3000860] chr1 12776344 exm16961 A T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776344|12776344|FIVE_PRIME_UTR||SNP|A|A|T|g.chr1:12776344A>T|ENST00000359318.5|+|1|||||0.5311720698254364|TGCTGTTGACATGGGTGAGTT|AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3435_%2C_0.6565|false|false|1||false|true|true|AADACL3:126767|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3000859|12776344|true|true|0|true|0|true||false|false|false|SNV|true|0x050300000b0517053f000100|1|false|101|rs3000859] @@ -940,8 +940,8 @@ chr1 12919891 exm17546 G T . PASS FUNCOTATION=[PRAMEF2|hg19|chr1|12919891|129198 chr1 13497777 indel.955 CT C . PASS FUNCOTATION=[PRAMEF16|hg19|chr1|13497778|13497778|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:13497778delT|ENST00000376121.3|+|3|1104|c.1075delT|c.(1075-1077)tgtfs|p.C359fs|0.5236907730673317|GTTAAAGGACTGTCAGATCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 13801621 rs12043808 A C . PASS FUNCOTATION=[LRRC38|hg19|chr1|13801621|13801621|THREE_PRIME_UTR||SNP|A|A|C|g.chr1:13801621A>C|ENST00000376085.3|-|2|||||0.4713216957605985|GCCACCTTTCATGAGGGCACT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 13840410 psy_rs192577419 T G . PASS FUNCOTATION=[LRRC38|hg19|chr1|13840410|13840410|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:13840410T>G|ENST00000376085.3|-|1|||||0.6957605985037406|CGAGTGGCCGTCGCCAAAACG|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 13842586 exm2264988 A G . PASS FUNCOTATION=[RP4-597A16.2|hg19|chr1|13842586|13842586|RNA||SNP|A|A|G|g.chr1:13842586A>G|ENST00000563570.1|+|||c.e3-79A>G|||0.3915211970074813|TAACAAACCTATTGAGAAATA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 13842679 psy_rs442493 G A . PASS FUNCOTATION=[RP4-597A16.2|hg19|chr1|13842679|13842679|RNA||SNP|G|G|A|g.chr1:13842679G>A|ENST00000563570.1|+|||c.e3+14G>A|||0.40399002493765584|CGTGAGGGCCGCATGGGGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 13842586 exm2264988 A G . PASS FUNCOTATION=[LRRC38|hg19|chr1|13842586|13842586|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:13842586A>G|ENST00000376085.3|-||||||0.3915211970074813|TAACAAACCTATTGAGAAATA|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 13842679 psy_rs442493 G A . PASS FUNCOTATION=[LRRC38|hg19|chr1|13842679|13842679|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:13842679G>A|ENST00000376085.3|-||||||0.40399002493765584|CGTGAGGGCCGCATGGGGAAG|RP4-597A16.2_ENST00000563570.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 13940884 variant.964 C T . PASS FUNCOTATION=[PDPN|hg19|chr1|13940884|13940884|NONSENSE||SNP|C|C|T|g.chr1:13940884C>T|ENST00000509009.1|+|5|489|c.445C>T|c.(445-447)Cga>Tga|p.R149*|0.4389027431421446|TGTGGTTATGCGAAAAATGTC|PDPN_ENST00000294489.6_NONSENSE_p.R230*/PDPN_ENST00000376057.4_NONSENSE_p.R230*/PDPN_ENST00000376061.4_NONSENSE_p.R112*/PDPN_ENST00000513143.1_NONSENSE_p.R112*/PDPN_ENST00000475043.1_NONSENSE_p.R112*/PDPN_ENST00000487038.1_NONSENSE_p.R112*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PDPN:10630|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|370056113|13940884|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000605040402000100|1|false|138|rs370056113] chr1 14032007 rs2495060 G A . PASS FUNCOTATION=[PRDM2|hg19|chr1|14032007|14032007|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:14032007G>A|ENST00000235372.7|+|1|||||0.4688279301745636|ATCCTGCACCGTCTACCCTTC|PRDM2_ENST00000376048.5_INTRON/PRDM2_ENST00000311066.5_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9439_%2C_0.05611|false|false|1||false|true|false|PRDM2:7799|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2495060|14032007|true|false|0|true|0|false|0.91349_%2C_0.0865101|false|false|true|SNV|true|0x050100480005150537000100|1|false|100|rs2495060] chr1 14059374 exm18628 G A . PASS FUNCOTATION=[PRDM2|hg19|chr1|14059374|14059374|NONSENSE||SNP|G|G|A|g.chr1:14059374G>A|ENST00000235372.7|+|4|1084|c.228G>A|c.(226-228)tgG>tgA|p.W76*|0.2743142144638404|TATACATGTGGGAGGTAAGAA|PRDM2_ENST00000376048.5_NONSENSE_p.W76*/PRDM2_ENST00000311066.5_NONSENSE_p.W76*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PRDM2:7799|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148256671|14059374|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000605040436000100|1|false|134|rs148256671] @@ -956,7 +956,7 @@ chr1 15446168 rs13375820 G A . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15446168|1 chr1 15466832 rs2206761 C T . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15466832|15466832|RNA||SNP|C|C|T|g.chr1:15466832C>T|ENST00000310916.3|-|||c.e1-11955G>A|||0.5486284289276808|GCTGGCTGGACTCTCCTGCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15467263 rs6429711 C T . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15467263|15467263|RNA||SNP|C|C|T|g.chr1:15467263C>T|ENST00000310916.3|-|||c.e1-11524G>A|||0.4837905236907731|GGAAGAAAGACGATGAGGGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15471992 rs761301 T G . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15471992|15471992|RNA||SNP|T|T|G|g.chr1:15471992T>G|ENST00000310916.3|-|||c.e1-6795A>C|||0.4763092269326683|CACTCTAATCTAAAGATCTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 15477865 rs1883761 G A . PASS FUNCOTATION=[TMEM51-AS1|hg19|chr1|15477865|15477865|RNA||SNP|G|G|A|g.chr1:15477865G>A|ENST00000310916.3|-|||c.e1-922C>T|||0.4713216957605985|ATAAGGAGAGGCATGCTTCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 15477865 rs1883761 G A . PASS FUNCOTATION=[TMEM51|hg19|chr1|15477865|15477865|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:15477865G>A|ENST00000376008.2|+||||||0.4713216957605985|ATAAGGAGAGGCATGCTTCCT|TMEM51_ENST00000376014.3_FIVE_PRIME_FLANK/TMEM51_ENST00000400796.3_FIVE_PRIME_FLANK/TMEM51_ENST00000428417.1_FIVE_PRIME_FLANK/TMEM51_ENST00000434578.2_FIVE_PRIME_FLANK/TMEM51-AS1_ENST00000310916.3_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15546761 exm2249987 G A . PASS FUNCOTATION=[TMEM51|hg19|chr1|15546761|15546761|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:15546761G>A|ENST00000428417.1|+|3|||||0.4139650872817955|GGCGGCTCTCGCAGAGCCCCT|TMEM51_ENST00000376008.2_THREE_PRIME_UTR/TMEM51_ENST00000376014.3_THREE_PRIME_UTR/TMEM51_ENST00000400796.3_THREE_PRIME_UTR/TMEM51_ENST00000434578.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15701094 variant.986 C T . PASS FUNCOTATION=[FHAD1|hg19|chr1|15701094|15701094|NONSENSE||SNP|C|C|T|g.chr1:15701094C>T|ENST00000375998.4|+|25|3478|c.3478C>T|c.(3478-3480)Cga>Tga|p.R1160*|0.4937655860349127|ACTTCGAGCGCGAATTAAAGA|FHAD1_ENST00000358897.4_NONSENSE_p.R1160*/FHAD1_ENST00000417793.1_NONSENSE_p.R1124*/FHAD1_ENST00000375999.3_NONSENSE_p.R1160*/FHAD1_ENST00000314740.8_NONSENSE_p.R413*/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|FHAD1:114827|false|true|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|367730091|15701094|false|false|0|false|0|false|0.999141_%2C_0.000858575|false|false|false|SNV|true|0x050000000605040426000100|1|false|138|rs367730091] chr1 15732793 rs733887 A G . PASS FUNCOTATION=[RP3-467K16.4|hg19|chr1|15732793|15732793|LINCRNA||SNP|A|A|G|g.chr1:15732793A>G|ENST00000427824.1|-|||c.e3-1610T>C|||0.486284289276808|TAAAGGATCAATCGTCTTGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -966,7 +966,7 @@ chr1 15813922 exm19463 G A . PASS FUNCOTATION=[CELA2B|hg19|chr1|15813922|1581392 chr1 15844653 exm19536 C A . PASS FUNCOTATION=[CASP9|hg19|chr1|15844653|15844653|NONSENSE||SNP|C|C|A|g.chr1:15844653C>A|ENST00000333868.5|-|2|465|c.370G>T|c.(370-372)Gaa>Taa|p.E124*|0.486284289276808|CTGGGTGTTTCCGGTCTGAGA|CASP9_ENST00000546424.1_NONSENSE_p.E124*/CASP9_ENST00000348549.5_NONSENSE_p.E124*/CASP9_ENST00000375890.4_NONSENSE_p.E41*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CASP9:842|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201216482|15844653|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480605040402000100|1|false|137|rs201216482] chr1 15844755 exm19545 G A . PASS FUNCOTATION=[CASP9|hg19|chr1|15844755|15844755|NONSENSE||SNP|G|G|A|g.chr1:15844755G>A|ENST00000333868.5|-|2|363|c.268C>T|c.(268-270)Cga>Tga|p.R90*|0.513715710723192|CTGTTAGTTCGCAGAAACGAA|CASP9_ENST00000546424.1_NONSENSE_p.R90*/CASP9_ENST00000348549.5_NONSENSE_p.R90*/CASP9_ENST00000375890.4_NONSENSE_p.R7*/CASP9_ENST00000469637.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CASP9:842|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|144884967|15844755|false|false|0|false|0|false||false|false|true|SNV|true|0x050000400605040402000100|1|false|134|rs144884967] chr1 15863057 variant.1017 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15863057|15863057|NONSENSE||SNP|C|C|T|g.chr1:15863057C>T|ENST00000375847.3|+|4|486|c.322C>T|c.(322-324)Cga>Tga|p.R108*|0.3865336658354115|GCAACAGCAGCGAGAGTATCG|DNAJC16_ENST00000375849.1_NONSENSE_p.R108*/DNAJC16_ENST00000375838.1_NONSENSE_p.R108*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 15886024 variant.1019 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886024|15886024|NONSENSE||SNP|C|C|T|g.chr1:15886024C>T|ENST00000375847.3|+|8|1191|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.4164588528678304|TCTCTAGGCCCGAGGTATGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R343*/DNAJC16_ENST00000375838.1_NONSENSE_p.R343*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 15886024 variant.1019 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886024|15886024|NONSENSE||SNP|C|C|T|g.chr1:15886024C>T|ENST00000375847.3|+|8|1191|c.1027C>T|c.(1027-1029)Cga>Tga|p.R343*|0.4164588528678304|TCTCTAGGCCCGAGGTATGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R343*/DNAJC16_ENST00000375838.1_NONSENSE_p.R343*/DNAJC16_ENST00000483270.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15886141 newrs148404423 C T . PASS FUNCOTATION=[DNAJC16|hg19|chr1|15886141|15886141|NONSENSE||SNP|C|C|T|g.chr1:15886141C>T|ENST00000375847.3|+|8|1308|c.1144C>T|c.(1144-1146)Cga>Tga|p.R382*|0.4488778054862843|ACGGTCGCATCGACAGAGGAA|DNAJC16_ENST00000375849.1_NONSENSE_p.R382*/DNAJC16_ENST00000375838.1_NONSENSE_p.R382*/DNAJC16_ENST00000483270.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15909881 indel.1029 AG A . PASS FUNCOTATION=[AGMAT|hg19|chr1|15909882|15909882|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:15909882delG|ENST00000375826.3|-|2|425|c.281delC|c.(280-282)cctfs|p.P94fs|0.5286783042394015|GATGCGGCGAGGTCCGAATCT|DNAJC16_ENST00000483270.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15986922 newrs138928687 C T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15986922|15986922|NONSENSE||SNP|C|C|T|g.chr1:15986922C>T|ENST00000345034.1|+|1|559|c.559C>T|c.(559-561)Caa>Taa|p.Q187*|0.41895261845386533|TTCACATGACCAAGAATATCT|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -975,15 +975,15 @@ chr1 15987735 exm19842 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987735|1598773 chr1 15987735 newrs137912259 G T . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987735|15987735|NONSENSE||SNP|G|G|T|g.chr1:15987735G>T|ENST00000345034.1|+|1|1372|c.1372G>T|c.(1372-1374)Gaa>Taa|p.E458*|0.40648379052369077|AACCGATAAGGAAGGTGTCCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15987834 indel.1039 GA G . PASS FUNCOTATION=[RSC1A1|hg19|chr1|15987835|15987835|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:15987835delA|ENST00000345034.1|+|1|1471|c.1472delA|c.(1471-1473)gaafs|p.I492fs|0.41895261845386533|TTAGGTGTAGAAATTTCACCC|DDI2_ENST00000480945.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 15993338 rs10492987 A G . PASS FUNCOTATION=[DDI2|hg19|chr1|15993338|15993338|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:15993338A>G|ENST00000480945.1|+|10|||||0.4463840399002494|ACCTGGTTCCACTTCAGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 16054617 variant.1044 C T . PASS FUNCOTATION=[PLEKHM2|hg19|chr1|16054617|16054617|NONSENSE||SNP|C|C|T|g.chr1:16054617C>T|ENST00000375799.3|+|10|2031|c.1804C>T|c.(1804-1806)Cga>Tga|p.R602*|0.6159600997506235|CCACGTGTTCCGAGAAAACGA|PLEKHM2_ENST00000375793.2_NONSENSE_p.R582*/RP11-288I21.1_ENST00000453804.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 16067904 rs7516080 T C . PASS FUNCOTATION=[RP11-169K16.4|hg19|chr1|16067904|16067904|RNA||SNP|T|T|C|g.chr1:16067904T>C|ENST00000418525.1|-|||c.e2+1187A>G|||0.6084788029925187|TCCTCTGTGGTGAATCTCAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 16068364 rs35365738 G A . PASS FUNCOTATION=[RP11-169K16.4|hg19|chr1|16068364|16068364|RNA||SNP|G|G|A|g.chr1:16068364G>A|ENST00000418525.1|-|||c.e2+1647C>T|||0.5486284289276808|GACAGATGGAGCCTGGGACTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 16054617 variant.1044 C T . PASS FUNCOTATION=[PLEKHM2|hg19|chr1|16054617|16054617|NONSENSE||SNP|C|C|T|g.chr1:16054617C>T|ENST00000375799.3|+|10|2031|c.1804C>T|c.(1804-1806)Cga>Tga|p.R602*|0.6159600997506235|CCACGTGTTCCGAGAAAACGA|PLEKHM2_ENST00000375793.2_NONSENSE_p.R582*/PLEKHM2_ENST00000477849.1_FIVE_PRIME_FLANK/RP11-288I21.1_ENST00000453804.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 16067904 rs7516080 T C . PASS FUNCOTATION=[TMEM82|hg19|chr1|16067904|16067904|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:16067904T>C|ENST00000375782.1|+||||||0.6084788029925187|TCCTCTGTGGTGAATCTCAGT|TMEM82_ENST00000465575.1_FIVE_PRIME_FLANK/RP11-169K16.4_ENST00000418525.1_RNA/RP11-288I21.1_ENST00000453804.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 16068364 rs35365738 G A . PASS FUNCOTATION=[TMEM82|hg19|chr1|16068364|16068364|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:16068364G>A|ENST00000375782.1|+||||||0.5486284289276808|GACAGATGGAGCCTGGGACTT|TMEM82_ENST00000465575.1_FIVE_PRIME_FLANK/RP11-169K16.4_ENST00000418525.1_RNA/RP11-288I21.1_ENST00000453804.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16070922 exm20137 C T . PASS FUNCOTATION=[TMEM82|hg19|chr1|16070922|16070922|NONSENSE||SNP|C|C|T|g.chr1:16070922C>T|ENST00000375782.1|+|4|742|c.604C>T|c.(604-606)Cag>Tag|p.Q202*|0.6733167082294265|TGGCCTCCCCCAGCTGCTGGG|RP11-169K16.4_ENST00000418525.1_RNA/TMEM82_ENST00000465575.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16096939 exm20219 C T . PASS FUNCOTATION=[FBLIM1|hg19|chr1|16096939|16096939|NONSENSE||SNP|C|C|T|g.chr1:16096939C>T|ENST00000375766.3|+|6|1217|c.577C>T|c.(577-579)Cga>Tga|p.R193*|0.5760598503740648|CGTGTCCCCCCGAGAGCTGGC|FBLIM1_ENST00000375771.1_NONSENSE_p.R193*/FBLIM1_ENST00000441801.2_NONSENSE_p.R193*/FBLIM1_ENST00000332305.5_NONSENSE_p.R96*/FBLIM1_ENST00000400773.1_NONSENSE_p.R96*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16161836 rs4661661 T C . PASS FUNCOTATION=[RP11-169K16.9|hg19|chr1|16161836|16161836|RNA||SNP|T|T|C|g.chr1:16161836T>C|ENST00000317122.1|-|||c.e2+862A>G|||0.6159600997506235|AAAGTGAAGATGGGTGGTGAA|RP11-169K16.9_ENST00000535249.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16255007 exm20355 C T . PASS FUNCOTATION=[SPEN|hg19|chr1|16255007|16255007|NONSENSE||SNP|C|C|T|g.chr1:16255007C>T|ENST00000375759.3|+|11|2476|c.2272C>T|c.(2272-2274)Cga>Tga|p.R758*|0.47880299251870323|GCTTTACAGCCGATCCTCAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SPEN:23013|false|true|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|72649638|16255007|false|false|0|false|0|false||false|false|false|SNV|false|0x05000000060500041e000100|1|false|130|rs72649638] -chr1 16341354 rs1048245 T G . PASS FUNCOTATION=[HSPB7|hg19|chr1|16341354|16341354|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:16341354T>G|ENST00000375718.4|-|4|||||0.6109725685785536|CCAACCCCACTTGGCCTTGCC|HSPB7_ENST00000311890.9_THREE_PRIME_UTR/HSPB7_ENST00000411503.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 16348412 rs945425 T C . PASS FUNCOTATION=[CLCNKA|hg19|chr1|16348412|16348412|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:16348412T>C|ENST00000375692.1|+|1|||||0.6134663341645885|TTAATCTCCATGGTAAACCCC|CLCNKA_ENST00000464764.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 16341354 rs1048245 T G . PASS FUNCOTATION=[HSPB7|hg19|chr1|16341354|16341354|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:16341354T>G|ENST00000375718.4|-|4|||||0.6109725685785536|CCAACCCCACTTGGCCTTGCC|HSPB7_ENST00000311890.9_THREE_PRIME_UTR/HSPB7_ENST00000411503.1_THREE_PRIME_UTR/CLCNKA_ENST00000464764.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 16348412 rs945425 T C . PASS FUNCOTATION=[CLCNKA|hg19|chr1|16348412|16348412|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:16348412T>C|ENST00000375692.1|+|1|||||0.6134663341645885|TTAATCTCCATGGTAAACCCC|HSPB7_ENST00000311890.9_FIVE_PRIME_FLANK/CLCNKA_ENST00000331433.4_FIVE_PRIME_FLANK/HSPB7_ENST00000375718.4_FIVE_PRIME_FLANK/HSPB7_ENST00000406363.2_FIVE_PRIME_FLANK/HSPB7_ENST00000411503.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000420078.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000439316.2_FIVE_PRIME_FLANK/HSPB7_ENST00000487046.1_FIVE_PRIME_FLANK/HSPB7_ENST00000545268.1_FIVE_PRIME_FLANK/CLCNKA_ENST00000464764.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16486793 rs904106 A G . PASS FUNCOTATION=[RP11-276H7.3|hg19|chr1|16486793|16486793|RNA||SNP|A|A|G|g.chr1:16486793A>G|ENST00000426353.1|+|||c.e1+872A>G|||0.49875311720698257|CCTGCTCTCAACCAACTGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16524869 rs221031 T C . PASS FUNCOTATION=[ARHGEF19|hg19|chr1|16524869|16524869|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16524869T>C|ENST00000270747.3|-|16|||||0.5635910224438903|GAAGAAACTATCCTTGGCCTT|ARHGEF19_ENST00000478117.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 16574316 rs3738632 T C . PASS FUNCOTATION=[FBXO42|hg19|chr1|16574316|16574316|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:16574316T>C|ENST00000375592.3|-|10|||||0.4139650872817955|CGCTCTGCTGTATAACCTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1042,10 +1042,10 @@ chr1 19198895 rs9117 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198895|19198895 chr1 19198972 kgp24983758 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19198972|19198972|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19198972G>A|ENST00000375341.3|-|15|||||0.6159600997506235|GGTGAGGTTTGCCAAGGGGCC|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 19199067 kgp1588165 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19199067|19199067|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:19199067G>A|ENST00000375341.3|-|15|||||0.5960099750623441|GCCCAGTGGAGGGCAGAGGGA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 19199217 kgp25228545 A G . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19199217|19199217|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:19199217A>G|ENST00000375341.3|-|15|||||0.6159600997506235|AAGGGAGTCAAGCCCGGATTA|ALDH4A1_ENST00000290597.5_INTRON/ALDH4A1_ENST00000538309.1_THREE_PRIME_UTR/ALDH4A1_ENST00000538839.1_THREE_PRIME_UTR/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 19229092 kgp15363246 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19229092|19229092|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19229092G>A|ENST00000375341.3|-|1|||||0.6408977556109726|CGTCCAGAGCGCACCACCTCG|RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 19578192 rs2294942 G A . PASS FUNCOTATION=[MRTO4|hg19|chr1|19578192|19578192|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19578192G>A|ENST00000330263.4|+|1|||||0.71571072319202|GCGGCGGCTTGGCAGGGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 19229092 kgp15363246 G A . PASS FUNCOTATION=[ALDH4A1|hg19|chr1|19229092|19229092|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19229092G>A|ENST00000375341.3|-|1|||||0.6408977556109726|CGTCCAGAGCGCACCACCTCG|ALDH4A1_ENST00000290597.5_FIVE_PRIME_FLANK/ALDH4A1_ENST00000538839.1_FIVE_PRIME_FLANK/RP13-279N23.2_ENST00000494072.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 19578192 rs2294942 G A . PASS FUNCOTATION=[MRTO4|hg19|chr1|19578192|19578192|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:19578192G>A|ENST00000330263.4|+|1|||||0.71571072319202|GCGGCGGCTTGGCAGGGAGAG|MRTO4_ENST00000493700.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 19593199 rs7527253 T C . PASS FUNCOTATION=[AKR7L|hg19|chr1|19593199|19593199|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:19593199T>C|ENST00000420396.2|-|5|||||0.3765586034912718|TTTTTACTTATTGGCTATTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 19922387 rs1737416 C T . PASS FUNCOTATION=[RP5-1056L3.1|hg19|chr1|19922387|19922387|RNA||SNP|C|C|T|g.chr1:19922387C>T|ENST00000416470.1|-|||c.e1-817G>A|||0.39900249376558605|TTGCATACAACCTACACACAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 19922387 rs1737416 C T . PASS FUNCOTATION=[MINOS1|hg19|chr1|19922387|19922387|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:19922387C>T|ENST00000322753.6|+||||||0.39900249376558605|TTGCATACAACCTACACACAT|MINOS1_ENST00000486890.1_FIVE_PRIME_FLANK/MINOS1-NBL1_ENST00000602662.1_FIVE_PRIME_FLANK/RP5-1056L3.1_ENST00000416470.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 19954014 rs880554 G T . PASS FUNCOTATION=[MINOS1|hg19|chr1|19954014|19954014|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:19954014G>T|ENST00000322753.6|+|4|||||0.4763092269326683|GGAGAAGAGAGGTGTAGGCAA|MINOS1-NBL1_ENST00000602662.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20008880 rs9064 G T . PASS FUNCOTATION=[TMCO4|hg19|chr1|20008880|20008880|THREE_PRIME_UTR||SNP|G|G|T|g.chr1:20008880G>T|ENST00000294543.6|-|16|||||0.486284289276808|CTCTGTTAGTGGTGTCCAGAT|TMCO4_ENST00000375127.1_THREE_PRIME_UTR/TMCO4_ENST00000375122.2_THREE_PRIME_UTR/TMCO4_ENST00000489814.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20142681 rs3806310 A G . PASS FUNCOTATION=[RP11-91K11.2|hg19|chr1|20142681|20142681|RNA||SNP|A|A|G|g.chr1:20142681A>G|ENST00000454736.1|+|||c.e1+1635A>G|||0.5461346633416458|CCTTCCATGGAGCAGGACCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1069,23 +1069,23 @@ chr1 20736532 rs10916790 C T . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20736532| chr1 20740016 rs10799633 C A . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20740016|20740016|LINCRNA||SNP|C|C|A|g.chr1:20740016C>A|ENST00000426428.1|-|||c.e2+7254G>T|||0.5486284289276808|CAGACGGCATCACAGAGGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20750561 rs7537381 A G . PASS FUNCOTATION=[RP4-749H3.1|hg19|chr1|20750561|20750561|LINCRNA||SNP|A|A|G|g.chr1:20750561A>G|ENST00000426428.1|-|||c.e1-4516T>C|||0.30673316708229426|AGTAAACGAAAAAGATAATAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20826910 rs529974 G A . PASS FUNCOTATION=[MUL1|hg19|chr1|20826910|20826910|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:20826910G>A|ENST00000264198.3|-|4|||||0.5635910224438903|AGTCACACTCGCACTGATCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 20915507 kgp25087902 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915507|20915507|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915507G>A|ENST00000375071.3|+|1|||||0.6184538653366584|GAGAGCCTGCGGTCTGGCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 20915577 kgp25241726 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915577|20915577|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915577G>A|ENST00000375071.3|+|1|||||0.6159600997506235|CAGGCTGGCCGGAGCTCCTGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 20915507 kgp25087902 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915507|20915507|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915507G>A|ENST00000375071.3|+|1|||||0.6184538653366584|GAGAGCCTGCGGTCTGGCTGC|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 20915577 kgp25241726 G A . PASS FUNCOTATION=[CDA|hg19|chr1|20915577|20915577|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:20915577G>A|ENST00000375071.3|+|1|||||0.6159600997506235|CAGGCTGGCCGGAGCTCCTGT|CDA_ENST00000461985.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20915590 kgp5980907 C T . PASS FUNCOTATION=[CDA|hg19|chr1|20915590|20915590|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:20915590C>T|ENST00000375071.3|+|1|||||0.6159600997506235|GCTCCTGTTTCCCGCTGCTCT|CDA_ENST00000461985.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20945251 GA000375 C G . PASS FUNCOTATION=[CDA|hg19|chr1|20945251|20945251|THREE_PRIME_UTR||SNP|C|C|G|g.chr1:20945251C>G|ENST00000375071.3|+|4|||||0.5411471321695761|AGAACACCGCCGCCCCCTGCC|CDA_ENST00000461985.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20945252 GA018656 G C . PASS FUNCOTATION=[CDA|hg19|chr1|20945252|20945252|THREE_PRIME_UTR||SNP|G|G|C|g.chr1:20945252G>C|ENST00000375071.3|+|4|||||0.5411471321695761|GAACACCGCCGCCCCCTGCCC|CDA_ENST00000461985.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20976994 indel.1467 TG T . PASS FUNCOTATION=[PINK1|hg19|chr1|20976995|20976995|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:20976995delG|ENST00000321556.4|+|8|1650|c.1557delG|c.(1555-1557)ctgfs|p.K520fs|0.5112219451371571|TTCTAGCCCTGAAGAATCTGA|PINK1-AS_ENST00000451424.1_RNA/PINK1_ENST00000492302.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20978058 exm2264808 G A . PASS FUNCOTATION=[PINK1-AS|hg19|chr1|20978058|20978058|RNA||SNP|G|G|A|g.chr1:20978058G>A|ENST00000451424.1|-|||c.e1-628C>T|||0.4239401496259352|CCATTTCAGTGATTCCCACCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20978058 rs650616 G A . PASS FUNCOTATION=[PINK1-AS|hg19|chr1|20978058|20978058|RNA||SNP|G|G|A|g.chr1:20978058G>A|ENST00000451424.1|-|||c.e1-628C>T|||0.4239401496259352|CCATTTCAGTGATTCCCACCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 20987879 exm27256 A C . PASS FUNCOTATION=[DDOST|hg19|chr1|20987879|20987879|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:20987879A>C|ENST00000602624.2|-|1|||||0.6508728179551122|GCACGTGCACACCGGAAGTAC|DDOST_ENST00000375048.3_MISSENSE_p.C6G/DDOST_ENST00000415136.2_MISSENSE_p.C6G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 20987879 exm27256 A C . PASS FUNCOTATION=[DDOST|hg19|chr1|20987879|20987879|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:20987879A>C|ENST00000602624.2|-|1|||||0.6508728179551122|GCACGTGCACACCGGAAGTAC|DDOST_ENST00000375048.3_MISSENSE_p.C6G/DDOST_ENST00000415136.2_MISSENSE_p.C6G/DDOST_ENST00000477229.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 20998552 indel.1474 CAG C . PASS FUNCOTATION=[KIF17|hg19|chr1|20998553|20998554|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:20998553_20998554delAG|ENST00000247986.2|-|12|2912_2913|c.2599_2600delCT|c.(2599-2601)ctgfs|p.L867fs|0.5696517412935324|CCTGCGAATCAGGGGCTGCACC|KIF17_ENST00000400463.3_FRAME_SHIFT_DEL_p.L867fs/KIF17_ENST00000375044.1_FRAME_SHIFT_DEL_p.L767fs/KIF17_ENST00000490034.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 21047725 rs659046 A G . PASS FUNCOTATION=[SH2D5|hg19|chr1|21047725|21047725|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:21047725A>G|ENST00000375031.1|-|9|||||0.5810473815461347|TCAGATACATATGAGAAACAG|SH2D5_ENST00000460804.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 21047725 rs659046 A G . PASS FUNCOTATION=[SH2D5|hg19|chr1|21047725|21047725|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:21047725A>G|ENST00000375031.1|-|9|||||0.5810473815461347|TCAGATACATATGAGAAACAG|KIF17_ENST00000247986.2_FIVE_PRIME_FLANK/KIF17_ENST00000375044.1_FIVE_PRIME_FLANK/KIF17_ENST00000400463.3_FIVE_PRIME_FLANK/SH2D5_ENST00000460804.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 21544601 rs3026913 C T . PASS FUNCOTATION=[ECE1|hg19|chr1|21544601|21544601|THREE_PRIME_UTR||SNP|C|C|T|g.chr1:21544601C>T|ENST00000415912.2|-|19|||||0.6184538653366584|GAGTCTGCTACTGGAGAAGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 21742614 rs10916982 T C . PASS FUNCOTATION=[RP11-293F5.1|hg19|chr1|21742614|21742614|LINCRNA||SNP|T|T|C|g.chr1:21742614T>C|ENST00000444647.1|+|||c.e1+186T>C|||0.5311720698254364|CCCTGAGAGATCCCAACAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 21771685 variant.1499 C T . PASS FUNCOTATION=[NBPF3|hg19|chr1|21771685|21771685|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21771685C>T|ENST00000318220.6|+|2|||||0.5211970074812967|TGGTGTGGGCCGACATCAAGA|NBPF3_ENST00000342104.5_NONSENSE_p.R36*/NBPF3_ENST00000318249.5_NONSENSE_p.R36*/NBPF3_ENST00000454000.2_NONSENSE_p.R36*/NBPF3_ENST00000478653.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NBPF3:84224|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|758505231|21771685|false|false|0|false|0|false||false|false|true|SNV|false|0x050000400605000002000100|1|false|144|rs758505231] chr1 21795274 indel.1502 TC T . PASS FUNCOTATION=[NBPF3|hg19|chr1|21795275|21795275|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:21795275delC|ENST00000318220.6|+|6|1107|c.60delC|c.(58-60)atcfs|p.N21fs|0.45885286783042395|TTCTAGAAATCAACAAGAAAT|NBPF3_ENST00000342104.5_FRAME_SHIFT_DEL_p.N77fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_DEL_p.N77fs/NBPF3_ENST00000454000.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747818094|21795275|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs747818094] chr1 21800057 indel.1508 G GC . PASS FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859] -chr1 21894604 indel.1522 TG T . PASS FUNCOTATION=[ALPL|hg19|chr1|21894605|21894605|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:21894605delG|ENST00000374840.3|+|7|906|c.657delG|c.(655-657)atgfs|p.G221fs|0.5685785536159601|AGGTGATCATGGGGGGTGGCC|ALPL_ENST00000374832.1_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000425315.2_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000540617.1_FRAME_SHIFT_DEL_p.G166fs/ALPL_ENST00000539907.1_FRAME_SHIFT_DEL_p.G144fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769948289|21894605|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs769948289] +chr1 21894604 indel.1522 TG T . PASS FUNCOTATION=[ALPL|hg19|chr1|21894605|21894605|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:21894605delG|ENST00000374840.3|+|7|906|c.657delG|c.(655-657)atgfs|p.G221fs|0.5685785536159601|AGGTGATCATGGGGGGTGGCC|ALPL_ENST00000374832.1_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000425315.2_FRAME_SHIFT_DEL_p.G221fs/ALPL_ENST00000540617.1_FRAME_SHIFT_DEL_p.G166fs/ALPL_ENST00000539907.1_FRAME_SHIFT_DEL_p.G144fs/ALPL_ENST00000374830.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769948289|21894605|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs769948289] chr1 21914362 rs1256279 C T . PASS FUNCOTATION=[RP11-63N8.3|hg19|chr1|21914362|21914362|RNA||SNP|C|C|T|g.chr1:21914362C>T|ENST00000457706.1|+|||c.e1+780C>T|||0.5910224438902744|GGGAGGAAGGCGGCCCAGGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 21976289 exm28371 C T . PASS FUNCOTATION=[RAP1GAP|hg19|chr1|21976289|21976289|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:21976289C>T|ENST00000374765.4|-|2|||||0.5785536159600998|ACTTGTCCACCCTGAAACACA|RAP1GAP_ENST00000542643.2_FIVE_PRIME_UTR/RAP1GAP_ENST00000290101.4_SPLICE_SITE_p.G15G/RAP1GAP_ENST00000374757.3_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 22354866 rs2473295 T C . PASS FUNCOTATION=[LINC00339|hg19|chr1|22354866|22354866|LINCRNA||SNP|T|T|C|g.chr1:22354866T>C|ENST00000416769.1|+|||c.e2-1907T>C|||0.4488778054862843|TGGGGCTGTATCCTAATGTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1094,7 +1094,7 @@ chr1 23435538 rs16827981 G A . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|234355 chr1 23720491 indel.1632 AC A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23720492|23720492|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:23720492delC|ENST00000450454.2|-|8|807|c.699delG|c.(697-699)aagfs|p.K233fs|0.6034912718204489|GGTTCCGGTACTTCATGTCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|769709955|23720492|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs769709955] chr1 23751126 exm30864 T A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010] chr1 23756350 exm30867 T C . PASS FUNCOTATION=[ASAP3|hg19|chr1|23756350|23756350|NONSTOP||SNP|T|T|C|g.chr1:23756350T>C|ENST00000336689.3|-|25|2756|c.2711A>G|c.(2710-2712)tAg>tGg|p.*904W|0.4763092269326683|AGCAAGGAGCTAGTCTTGCAA|ASAP3_ENST00000437606.2_NONSTOP_p.*895W/ASAP3_ENST00000495646.1_NONSTOP_p.*408W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ASAP3:55616|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148021104|23756350|false|false|0|false|0|false||false|false|false|SNV|false|0x050000000205000402000100|1|false|134|rs148021104] -chr1 24100223 rs7514394 C T . PASS FUNCOTATION=[RP5-886K2.3|hg19|chr1|24100223|24100223|RNA||SNP|C|C|T|g.chr1:24100223C>T|ENST00000427796.1|-|||c.e2+1307G>A|||0.4389027431421446|CCTGGAAGGGCCTTGTGTCCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 24100223 rs7514394 C T . PASS FUNCOTATION=[RP5-886K2.3|hg19|chr1|24100223|24100223|RNA||SNP|C|C|T|g.chr1:24100223C>T|ENST00000427796.1|-|||c.e2+1307G>A|||0.4389027431421446|CCTGGAAGGGCCTTGTGTCCA|RP5-886K2.3_ENST00000447961.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 24201027 var_1_24201027 AG A . PASS FUNCOTATION=[CNR2|hg19|chr1|24201028|24201028|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:24201028delG|ENST00000374472.4|-|2|1243|c.1080delC|c.(1078-1080)tgcfs|p.*361fs|0.5286783042394015|GGCCTCATCAGCAATCAGAGA|CNR2_ENST00000536471.1_FRAME_SHIFT_DEL_p.*361fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CNR2:1269|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|758031503|24201028|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs758031503] chr1 24372971 rs12401982 C T . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24372971|24372971|RNA||SNP|C|C|T|g.chr1:24372971C>T|ENST00000439239.2|+|||c.e2+4136C>T|||0.49625935162094764|GTGACTGTATCCGCCCACATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 24377326 rs11586125 T C . PASS FUNCOTATION=[RP11-293P20.2|hg19|chr1|24377326|24377326|RNA||SNP|T|T|C|g.chr1:24377326T>C|ENST00000439239.2|+|||c.e2+8491T>C|||0.5112219451371571|TGAGGCCTGCTCCAGCTCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1106,7 +1106,7 @@ chr1 24531634 rs946662 C A . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24531634|2 chr1 24537652 psy_rs112274538 C A . PASS FUNCOTATION=[RP11-10N16.2|hg19|chr1|24537652|24537652|LINCRNA||SNP|C|C|A|g.chr1:24537652C>A|ENST00000439059.2|+|||c.e3-531C>A|||0.5211970074812967|CAAATCACTTCTCCAGGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 24636835 rs672511 C T . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24636835|24636835|RNA||SNP|C|C|T|g.chr1:24636835C>T|ENST00000437965.1|-|||c.e3-330G>A|||0.42643391521197005|TACAGACTCACGTAGACTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 24640314 rs621535 G A . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24640314|24640314|RNA||SNP|G|G|A|g.chr1:24640314G>A|ENST00000437965.1|-|||c.e2+1832C>T|||0.4688279301745636|GCTGTATTGAGGGGAGGTTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 24645356 rs2248219 A G . PASS FUNCOTATION=[RP11-10N16.3|hg19|chr1|24645356|24645356|RNA||SNP|A|A|G|g.chr1:24645356A>G|ENST00000437965.1|-|||c.e1-2800T>C|||0.45885286783042395|TCTGTAAAATATGTGTTGAAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 24645356 rs2248219 A G . PASS FUNCOTATION=[GRHL3|hg19|chr1|24645356|24645356|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:24645356A>G|ENST00000236255.4|+||||||0.45885286783042395|TCTGTAAAATATGTGTTGAAG|GRHL3_ENST00000342072.4_FIVE_PRIME_FLANK/GRHL3_ENST00000350501.5_FIVE_PRIME_FLANK/GRHL3_ENST00000356046.2_FIVE_PRIME_FLANK/GRHL3_ENST00000361548.4_FIVE_PRIME_FLANK/GRHL3_ENST00000530984.1_FIVE_PRIME_FLANK/RP11-10N16.3_ENST00000437965.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 24687425 indel.1723 T TA . PASS FUNCOTATION=[STPG1|hg19|chr1|24687425|24687426|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:24687425_24687426insA|ENST00000374409.1|-|8|1099|c.843_844insT|c.(844-846)aagfs|p.K282fs|0.5|TGAAATGCTTGCGGGGGCCT|STPG1_ENST00000337248.4_FRAME_SHIFT_INS_p.K282fs/STPG1_ENST00000003583.8_FRAME_SHIFT_INS_p.K235fs/GRHL3_ENST00000350501.5_INTRON/STPG1_ENST00000440416.1_FRAME_SHIFT_INS_p.K235fs/STPG1_ENST00000468303.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|STPG1:90529_%7C_GRHL3:57822|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|868621625|24687425|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs868621625] chr1 24876383 rs2776747 T C . PASS FUNCOTATION=[RP4-594I10.3|hg19|chr1|24876383|24876383|LINCRNA||SNP|T|T|C|g.chr1:24876383T>C|ENST00000577528.1|-|||c.e2-1996A>G|||0.4513715710723192|GGGACTTGGATGCTGAATCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 24877458 rs12065278 A G . PASS FUNCOTATION=[RP4-594I10.3|hg19|chr1|24877458|24877458|LINCRNA||SNP|A|A|G|g.chr1:24877458A>G|ENST00000577528.1|-|||c.e2-921T>C|||0.49625935162094764|TTTTTCTCCAAAGCACTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1130,7 +1130,7 @@ chr1 26570762 indel.1881 AC A . PASS FUNCOTATION=[CEP85|hg19|chr1|26570763|26570 chr1 27020012 rs4466675 C T . PASS FUNCOTATION=[RP5-968P14.2|hg19|chr1|27020012|27020012|RNA||SNP|C|C|T|g.chr1:27020012C>T|ENST00000569378.1|-|||c.e1-610G>A|||0.5112219451371571|TTCCTGGGATCGTGGTGTGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 27558522 rs10902652 C T . PASS FUNCOTATION=[RP11-40H20.4|hg19|chr1|27558522|27558522|RNA||SNP|C|C|T|g.chr1:27558522C>T|ENST00000425205.1|-|||c.e2-1414G>A|||0.5286783042394015|TGGTGGCGGGCGCCTGTAGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 28120132 indel.2029 AC A . PASS FUNCOTATION=[STX12|hg19|chr1|28120133|28120133|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:28120133delC|ENST00000373943.4|+|3|402|c.278delC|c.(277-279)actfs|p.T93fs|0.40399002493765584|CCCTTATCTACTTCAGAACAG|STX12_ENST00000468761.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 28906454 var_1_28906454 C T . PASS FUNCOTATION=[SNHG12|hg19|chr1|28906454|28906454|RNA||SNP|C|C|T|g.chr1:28906454C>T|ENST00000488745.1|-|||c.e4+30G>A|||0.48877805486284287|ACAAGCTCACCTCCTCAGTAT|SNHG12_ENST00000531126.1_RNA/SNHG12_ENST00000483436.1_SPLICE_SITE/SNHG12_ENST00000475441.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 28906454 var_1_28906454 C T . PASS FUNCOTATION=[SNHG12|hg19|chr1|28906454|28906454|RNA||SNP|C|C|T|g.chr1:28906454C>T|ENST00000488745.1|-|||c.e4+30G>A|||0.48877805486284287|ACAAGCTCACCTCCTCAGTAT|SNHG12_ENST00000531126.1_RNA/SNHG12_ENST00000483436.1_SPLICE_SITE/SNHG12_ENST00000475441.1_SPLICE_SITE/SNHG12_ENST00000384581.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 29194818 rs204069 A G . PASS FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194818|29194818|LINCRNA||SNP|A|A|G|g.chr1:29194818A>G|ENST00000443593.2|+|||c.e1-254A>G|||0.4937655860349127|TAATACGATCATCAGCCTCAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 29194901 exm2268873 C T . PASS FUNCOTATION=[RP1-212P9.2|hg19|chr1|29194901|29194901|LINCRNA||SNP|C|C|T|g.chr1:29194901C>T|ENST00000443593.2|+|||c.e1-171C>T|||0.4937655860349127|GTCACTTCACCTCCACGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 29200219 rs7511894 T C . PASS FUNCOTATION=[RP1-212P9.3|hg19|chr1|29200219|29200219|RNA||SNP|T|T|C|g.chr1:29200219T>C|ENST00000418471.1|-|||c.e2+1219A>G|||0.5561097256857855|AGCTACACTCTTGGATCCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1139,7 +1139,7 @@ chr1 29670073 psy_rs16838142 T C . PASS FUNCOTATION=[RP3-437I16.1|hg19|chr1|2967 chr1 30487342 rs453149 T C . PASS FUNCOTATION=[RP11-111I12.1|hg19|chr1|30487342|30487342|LINCRNA||SNP|T|T|C|g.chr1:30487342T>C|ENST00000445180.2|-|||c.e7-14A>G|||0.5286783042394015|AAGGAGAGCTTGGGGTGACTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 30494591 rs1603724 G A . PASS FUNCOTATION=[RP11-111I12.1|hg19|chr1|30494591|30494591|LINCRNA||SNP|G|G|A|g.chr1:30494591G>A|ENST00000445180.2|-|||c.e4-3281C>T|||0.29925187032418954|TGAAAGTATCGCCATCTTAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 31198733 rs1149048 A G . PASS FUNCOTATION=[MATN1-AS1|hg19|chr1|31198733|31198733|RNA||SNP|A|A|G|g.chr1:31198733A>G|ENST00000414532.2|+|||c.e3+151A>G|||0.57356608478803|GGCTGTGTCCAGGGCTCAGGG|MATN1-AS1_ENST00000454613.1_RNA/MATN1-AS1_ENST00000443076.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 32110813 rs7542583 A G . PASS FUNCOTATION=[RP11-73M7.6|hg19|chr1|32110813|32110813|RNA||SNP|A|A|G|g.chr1:32110813A>G|ENST00000610043.1|+|||c.e1+916A>G|||0.57356608478803|AACCTGGCAAATGGGACGCAT|RP11-73M7.6_ENST00000609549.1_RNA/RP11-73M7.6_ENST00000609625.1_RNA/RP11-73M7.6_ENST00000607926.1_RNA/RP11-73M7.6_ENST00000585660.1_RNA/RP11-73M7.6_ENST00000610216.1_RNA/RP11-73M7.6_ENST00000608246.1_RNA/RP11-73M7.6_ENST00000608888.1_RNA/RP11-73M7.6_ENST00000608332.1_RNA/RP11-73M7.6_ENST00000591592.1_RNA/RP11-73M7.9_ENST00000581333.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 32110813 rs7542583 A G . PASS FUNCOTATION=[RP11-73M7.6|hg19|chr1|32110813|32110813|RNA||SNP|A|A|G|g.chr1:32110813A>G|ENST00000610043.1|+|||c.e1+916A>G|||0.57356608478803|AACCTGGCAAATGGGACGCAT|RP11-73M7.6_ENST00000609549.1_RNA/RP11-73M7.6_ENST00000609625.1_RNA/RP11-73M7.6_ENST00000607926.1_RNA/RP11-73M7.6_ENST00000585660.1_RNA/RP11-73M7.6_ENST00000610216.1_RNA/RP11-73M7.6_ENST00000608246.1_RNA/RP11-73M7.6_ENST00000608888.1_RNA/RP11-73M7.6_ENST00000608332.1_RNA/RP11-73M7.6_ENST00000591592.1_RNA/RP11-73M7.9_ENST00000581333.1_RNA/RP11-73M7.6_ENST00000585413.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000587445.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000589462.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000591929.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000593188.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609033.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609338.1_FIVE_PRIME_FLANK/RP11-73M7.6_ENST00000609373.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 32374452 indel.2196 TC T . PASS FUNCOTATION=[PTP4A2|hg19|chr1|32374453|32374453|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:32374453delC|ENST00000602725.1|-|5|923|c.505_504delG|c.(502-504)tagfs|p.M169fs|0.36159600997506236|ACATTTCCTTCTACTGAACAC|PTP4A2_ENST00000457805.2_FRAME_SHIFT_DEL_p.M138fs/PTP4A2_ENST00000470404.1_THREE_PRIME_UTR/PTP4A2_ENST00000344035.6_FRAME_SHIFT_DEL_p.M169fs/PTP4A2_ENST00000356536.3_THREE_PRIME_UTR/RP11-84A19.4_ENST00000602889.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 32752074 rs11807976 G A . PASS FUNCOTATION=[Y_RNA|hg19|chr1|32752074|32752074|RNA||SNP|G|G|A|g.chr1:32752074G>A|ENST00000516641.1|-|||c.e1+21C>T|||0.47381546134663344|CAAATGAAGCGGCGGGAATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 33187046 rs359952 C T . PASS FUNCOTATION=[RP11-114B7.6|hg19|chr1|33187046|33187046|RNA||SNP|C|C|T|g.chr1:33187046C>T|ENST00000421619.1|-|||c.e2+3477G>A|||0.5660847880299252|CAGCCCTCATCTCTTTTTACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1149,59 +1149,59 @@ chr1 35239992 rs639126 T C . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35239992|35 chr1 35246297 rs1764405 A G . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35246297|35246297|RNA||SNP|A|A|G|g.chr1:35246297A>G|ENST00000542839.1|-|||c.e1-7292T>C|||0.4763092269326683|AGGCTGGGGCACTGCAGGCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 35253376 rs483721 C T . PASS FUNCOTATION=[RP1-34M23.5|hg19|chr1|35253376|35253376|RNA||SNP|C|C|T|g.chr1:35253376C>T|ENST00000542839.1|-|||c.e1-213G>A|||0.5386533665835411|ACAGGGAATACGGTCAGCATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 35444037 rs4072108 T C . PASS FUNCOTATION=[RP11-244H3.1|hg19|chr1|35444037|35444037|RNA||SNP|T|T|C|g.chr1:35444037T>C|ENST00000417456.1|-|||c.e2+1034A>G|||0.4513715710723192|TCTGGGCATATTCCTACCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 35497529 kgp11705169 G A . PASS FUNCOTATION=[ZMYM6|hg19|chr1|35497529|35497529|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:35497529G>A|ENST00000357182.4|-|1|||||0.5685785536159601|CCAACGCAACGACCGGCCAAC|ZMYM6_ENST00000373340.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 35497529 kgp11705169 G A . PASS FUNCOTATION=[ZMYM6|hg19|chr1|35497529|35497529|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:35497529G>A|ENST00000357182.4|-|1|||||0.5685785536159601|CCAACGCAACGACCGGCCAAC|ZMYM6_ENST00000373340.2_FIVE_PRIME_UTR/ZMYM6_ENST00000317538.5_FIVE_PRIME_FLANK/ZMYM6_ENST00000373333.1_FIVE_PRIME_FLANK/ZMYM6_ENST00000493328.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 35854642 indel.2376 TG T . PASS FUNCOTATION=[ZMYM4|hg19|chr1|35854643|35854643|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:35854643delG|ENST00000314607.6|+|14|2475|c.2396delG|c.(2395-2397)tgtfs|p.C799fs|0.29925187032418954|GAGTTCTGTTGTGAAGAATGC|ZMYM4_ENST00000373297.2_FRAME_SHIFT_DEL_p.C710fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 36291074 indel.2402 CA C . PASS FUNCOTATION=[AGO4|hg19|chr1|36291075|36291075|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:36291075delA|ENST00000373210.3|+|4|712|c.468delA|c.(466-468)acafs|p.R157fs|0.3915211970074813|ATGTTATCACAAGACACCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 36558985 exm44727 T G . PASS FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661] -chr1 36789546 rs12116935 A G . PASS FUNCOTATION=[RP11-268J15.5|hg19|chr1|36789546|36789546|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:36789546A>G|ENST00000373137.2|+|1|||||0.5935162094763092|CGCAGATCAAATAAACGGAGT|EVA1B_ENST00000270824.1_FIVE_PRIME_UTR/SH3D21_ENST00000474766.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 36929988 rs3806289 T C . PASS FUNCOTATION=[MRPS15|hg19|chr1|36929988|36929988|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:36929988T>C|ENST00000373116.5|-|1|||||0.6384039900249376|ATCGAGGCAGTTGCAATACCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 36789546 rs12116935 A G . PASS FUNCOTATION=[RP11-268J15.5|hg19|chr1|36789546|36789546|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:36789546A>G|ENST00000373137.2|+|1|||||0.5935162094763092|CGCAGATCAAATAAACGGAGT|EVA1B_ENST00000270824.1_FIVE_PRIME_UTR/EVA1B_ENST00000490466.1_FIVE_PRIME_FLANK/SH3D21_ENST00000474766.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 36929988 rs3806289 T C . PASS FUNCOTATION=[MRPS15|hg19|chr1|36929988|36929988|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:36929988T>C|ENST00000373116.5|-|1|||||0.6384039900249376|ATCGAGGCAGTTGCAATACCG|MRPS15_ENST00000488606.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 37922859 rs2660569 C T . PASS FUNCOTATION=[RP11-422J8.1|hg19|chr1|37922859|37922859|RNA||SNP|C|C|T|g.chr1:37922859C>T|ENST00000424989.1|-|||c.e2+799G>A|||0.46384039900249374|TCATCTCATCCGCTTTAGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 37939094 rs6681785 C T . PASS FUNCOTATION=[RP11-422J8.1|hg19|chr1|37939094|37939094|RNA||SNP|C|C|T|g.chr1:37939094C>T|ENST00000424989.1|-|||c.e1-651G>A|||0.44139650872817954|TCTGTGTTTTCTCTCTCTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 37939173 rs2492301 T C . PASS FUNCOTATION=[RP11-422J8.1|hg19|chr1|37939173|37939173|RNA||SNP|T|T|C|g.chr1:37939173T>C|ENST00000424989.1|-|||c.e1-572A>G|||0.49625935162094764|CTGCCCTCAGTCACTCGTGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 38456106 rs4072980 G A . PASS FUNCOTATION=[SF3A3|hg19|chr1|38456106|38456106|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:38456106G>A|ENST00000373019.4|-|1|||||0.5386533665835411|AGGAAAATGGGAATAGTGGGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 38456106 rs4072980 G A . PASS FUNCOTATION=[SF3A3|hg19|chr1|38456106|38456106|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:38456106G>A|ENST00000373019.4|-|1|||||0.5386533665835411|AGGAAAATGGGAATAGTGGGG|SF3A3_ENST00000448721.2_FIVE_PRIME_FLANK/SF3A3_ENST00000489537.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 39305315 indel.2566 AC A . PASS FUNCOTATION=[RRAGC|hg19|chr1|39305316|39305316|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:39305316delC|ENST00000373001.3|-|7|1287|c.1109delG|c.(1108-1110)ggtfs|p.G370fs|0.4688279301745636|AGAAGTCACACCCACCTCAAA|RRAGC_ENST00000474456.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 39350742 rs4970633 C T . PASS FUNCOTATION=[RP5-864K19.4|hg19|chr1|39350742|39350742|RNA||SNP|C|C|T|g.chr1:39350742C>T|ENST00000433671.2|+|||c.e2+9052C>T|||0.32917705735660846|CTATATCTAACTAAGTGTATA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 39797335 indel.2587 AT A . PASS FUNCOTATION=[MACF1|hg19|chr1|39797336|39797336|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:39797336delT|ENST00000372915.3|+|36|5177|c.5091delT|c.(5089-5091)tatfs|p.R1699fs|0.44139650872817954|TAGAGTCTTATCTTAGAACAT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.R1731fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.R1694fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.R134fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 39800498 indel.2592 TG T . PASS FUNCOTATION=[MACF1|hg19|chr1|39800499|39800499|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:39800499delG|ENST00000372915.3|+|36|8340|c.8254delG|c.(8254-8256)gagfs|p.E2752fs|0.38902743142144636|AGAAGCTATTGAGAAAAGACT|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.E2784fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.E2747fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.E1187fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 39806577 indel.2597 CA C . PASS FUNCOTATION=[MACF1|hg19|chr1|39806578|39806578|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:39806578delA|ENST00000372915.3|+|39|10635|c.10549delA|c.(10549-10551)agtfs|p.S3517fs|0.3915211970074813|GGGATCTAACAGTGAAATAGA|MACF1_ENST00000567887.1_FRAME_SHIFT_DEL_p.S3549fs/MACF1_ENST00000564288.1_FRAME_SHIFT_DEL_p.S3512fs/MACF1_ENST00000289893.4_FRAME_SHIFT_DEL_p.S1952fs/MACF1_ENST00000361689.2_INTRON/MACF1_ENST00000545844.1_INTRON/MACF1_ENST00000317713.7_INTRON/MACF1_ENST00000539005.1_INTRON/MACF1_ENST00000476350.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 39992808 rs1180341 T C . PASS FUNCOTATION=[RP11-69E11.4|hg19|chr1|39992808|39992808|RNA||SNP|T|T|C|g.chr1:39992808T>C|ENST00000458207.1|-|||c.e2-1880A>G|||0.5610972568578554|CCACCAAAATTGGCGTCACCC|RP11-69E11.4_ENST00000440190.1_RNA/RP11-69E11.4_ENST00000450157.1_RNA/RP11-69E11.4_ENST00000431553.1_RNA/RP11-69E11.4_ENST00000417869.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 40546155 exm48877 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 40546155 newrs148412181 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 40547950 rs3131660 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40547950|40547950|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40547950C>T|ENST00000530076.1|-|1|||||0.4513715710723192|ACAGAGCCAGCTACGTCAGAG|PPT1_ENST00000433473.3_INTRON/PPT1_ENST00000449045.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 39992808 rs1180341 T C . PASS FUNCOTATION=[RP11-69E11.4|hg19|chr1|39992808|39992808|RNA||SNP|T|T|C|g.chr1:39992808T>C|ENST00000458207.1|-|||c.e2-1880A>G|||0.5610972568578554|CCACCAAAATTGGCGTCACCC|RP11-69E11.4_ENST00000440190.1_RNA/RP11-69E11.4_ENST00000450157.1_RNA/RP11-69E11.4_ENST00000431553.1_RNA/RP11-69E11.4_ENST00000417869.1_RNA/RP11-69E11.4_ENST00000331856.2_FIVE_PRIME_FLANK/RP11-69E11.4_ENST00000441741.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 40546155 exm48877 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 40546155 newrs148412181 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40546155|40546155|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40546155C>T|ENST00000530076.1|-|2|||||0.5012468827930174|TCGGCTTGCACGAGGCTGTAG|PPT1_ENST00000433473.3_MISSENSE_p.V181M/PPT1_ENST00000449045.2_MISSENSE_p.V78M/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 40547950 rs3131660 C T . PASS FUNCOTATION=[PPT1|hg19|chr1|40547950|40547950|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:40547950C>T|ENST00000530076.1|-|1|||||0.4513715710723192|ACAGAGCCAGCTACGTCAGAG|PPT1_ENST00000433473.3_INTRON/PPT1_ENST00000449045.2_INTRON/PPT1_ENST00000372775.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40717196 var_1_40717196 CT C . PASS FUNCOTATION=[TMCO2|hg19|chr1|40717197|40717197|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:40717197delT|ENST00000372766.3|+|2|572|c.480delT|c.(478-480)tctfs|p.E161fs|0.43640897755610975|ATTGCTCCTCTGAGCCCTACT|TMCO2_ENST00000468258.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40722795 rs926830 G A . PASS FUNCOTATION=[RP1-39G22.7|hg19|chr1|40722795|40722795|RNA||SNP|G|G|A|g.chr1:40722795G>A|ENST00000567508.1|-|||c.e1+696C>T|||0.3092269326683292|GCAGGGTTGAGAAATTCAAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40930624 rs2982502 A G . PASS FUNCOTATION=[RP1-228H13.5|hg19|chr1|40930624|40930624|RNA||SNP|A|A|G|g.chr1:40930624A>G|ENST00000565390.1|+|||c.e1+633A>G|||0.43640897755610975|CCTTGGCACTACCAATATTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40961344 indel.2695 TA T . PASS FUNCOTATION=[ZFP69|hg19|chr1|40961345|40961345|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40961345delA|ENST00000372706.1|+|6|2200|c.1195delA|c.(1195-1197)agtfs|p.S399fs|0.4114713216957606|TAGACACCTTAGTGAACATAT|ZFP69_ENST00000372705.3_FRAME_SHIFT_DEL_p.S399fs/RP11-656D10.3_ENST00000450713.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40966167 rs7511983 C T . PASS FUNCOTATION=[RP11-656D10.3|hg19|chr1|40966167|40966167|RNA||SNP|C|C|T|g.chr1:40966167C>T|ENST00000450713.1|-|||c.e2+6807G>A|||0.428927680798005|AGGTCAGGTGCCAACCCTTAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 40974156 rs3795347 T C . PASS FUNCOTATION=[RP11-656D10.3|hg19|chr1|40974156|40974156|RNA||SNP|T|T|C|g.chr1:40974156T>C|ENST00000450713.1|-|||c.e1-105A>G|||0.5561097256857855|CTTGCTCGGATTGTCCCGGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 40974799 rs12068587 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974799|40974799|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:40974799T>C|ENST00000372703.1|+|1|||||0.6109725685785536|TCCCTGTTCTTATTCCTGGCT|EXO5_ENST00000296380.4_INTRON/EXO5_ENST00000358527.2_INTRON/EXO5_ENST00000471429.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 40974156 rs3795347 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974156|40974156|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:40974156T>C|ENST00000296380.4|+||||||0.5561097256857855|CTTGCTCGGATTGTCCCGGTG|EXO5_ENST00000358527.2_FIVE_PRIME_FLANK/EXO5_ENST00000372703.1_FIVE_PRIME_FLANK/EXO5_ENST00000471429.1_FIVE_PRIME_FLANK/RP11-656D10.3_ENST00000450713.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 40974799 rs12068587 T C . PASS FUNCOTATION=[EXO5|hg19|chr1|40974799|40974799|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:40974799T>C|ENST00000372703.1|+|1|||||0.6109725685785536|TCCCTGTTCTTATTCCTGGCT|EXO5_ENST00000296380.4_INTRON/EXO5_ENST00000358527.2_INTRON/EXO5_ENST00000471429.1_INTRON/RP11-656D10.3_ENST00000450713.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40980601 indel.2701 CA C . PASS FUNCOTATION=[EXO5|hg19|chr1|40980602|40980602|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:40980602delA|ENST00000372703.1|+|2|1459|c.386delA|c.(385-387)catfs|p.H129fs|0.4713216957605985|CTAGAACTTCATGATCTTGTG|EXO5_ENST00000296380.4_FRAME_SHIFT_DEL_p.H129fs/EXO5_ENST00000358527.2_FRAME_SHIFT_DEL_p.H129fs/RP11-656D10.5_ENST00000453437.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 41338665 rs1359893 A G . PASS FUNCOTATION=[RP5-1066H13.4|hg19|chr1|41338665|41338665|RNA||SNP|A|A|G|g.chr1:41338665A>G|ENST00000414199.1|+|||c.e3-3474A>G|||0.38154613466334164|TTATTCCCACATCATAAATGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 41461696 indel.2730 GC G . PASS FUNCOTATION=[CTPS1|hg19|chr1|41461697|41461697|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:41461697delC|ENST00000372621.4|+|8|1336|c.829delC|c.(829-831)cagfs|p.Q277fs|0.4314214463840399|TATTGAGAGGCAGCCAAGAAA|CTPS1_ENST00000372616.1_FRAME_SHIFT_DEL_p.Q277fs/CTPS1_ENST00000541520.1_FRAME_SHIFT_DEL_p.Q46fs/CTPS1_ENST00000543104.1_FRAME_SHIFT_DEL_p.Q284fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 42094498 rs2038976 A G . PASS FUNCOTATION=[HIVEP3|hg19|chr1|42094498|42094498|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:42094498A>G|ENST00000372583.1|-|3|||||0.5112219451371571|GTCCACTCCTACGGCAGCCAC|HIVEP3_ENST00000247584.5_FIVE_PRIME_UTR/HIVEP3_ENST00000372584.1_FIVE_PRIME_UTR/HIVEP3_ENST00000429157.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 43004894 indel.2772 CA C . PASS FUNCOTATION=[CCDC30|hg19|chr1|43004895|43004895|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:43004895delA|ENST00000340612.4|+|2|168|c.169delA|c.(169-171)aatfs|p.N57fs|0.30673316708229426|TGAAGTTCACAATCTTCCAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000342022.4_FRAME_SHIFT_DEL_p.N57fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 43004894 indel.2772 CA C . PASS FUNCOTATION=[CCDC30|hg19|chr1|43004895|43004895|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:43004895delA|ENST00000340612.4|+|2|168|c.169delA|c.(169-171)aatfs|p.N57fs|0.30673316708229426|TGAAGTTCACAATCTTCCAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000342022.4_FRAME_SHIFT_DEL_p.N57fs/CCDC30_ENST00000390640.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 43021827 indel.2775 TC T . PASS FUNCOTATION=[CCDC30|hg19|chr1|43021828|43021828|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|C|C|-|g.chr1:43021828delC|ENST00000340612.4|+|4|426|c.427delC|c.(427-429)cccfs|p.K144fs|0.38902743142144636|TGCACCAAGTCCCAAATTAGG|CCDC30_ENST00000507855.1_INTRON/CCDC30_ENST00000428554.2_SPLICE_SITE_p.K144fs/CCDC30_ENST00000342022.4_SPLICE_SITE_p.K144fs/CCDC30_ENST00000390640.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115] -chr1 43610910 rs626842 T G . PASS FUNCOTATION=[FAM183A|hg19|chr1|43610910|43610910|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:43610910T>G|ENST00000410048.1|+|1|||||0.47880299251870323|TGCAGGGCCATTGACAGAGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115] +chr1 43610910 rs626842 T G . PASS FUNCOTATION=[FAM183A|hg19|chr1|43610910|43610910|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:43610910T>G|ENST00000410048.1|+|1|||||0.47880299251870323|TGCAGGGCCATTGACAGAGAA|FAM183A_ENST00000335282.4_FIVE_PRIME_FLANK/FAM183A_ENST00000409337.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 43783609 indel.2866 CGGAA C . PASS FUNCOTATION=[TIE1|hg19|chr1|43783610|43783613|FRAME_SHIFT_DEL||DEL|GGAA|GGAA|-|g.chr1:43783610_43783613delGGAA|ENST00000372476.3|+|17|2867_2870|c.2789_2792delGGAA|c.(2788-2793)cggaaafs|p.R930fs|0.5668316831683168|GATTTTCTGCGGAAAAGCCGGGTC|TIE1_ENST00000433781.2_FRAME_SHIFT_DEL_p.R575fs/TIE1_ENST00000473014.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 43854091 exm52079 C G . PASS FUNCOTATION=[MED8|hg19|chr1|43854091|43854091|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:43854091C>G|ENST00000372455.4|-|2|||||0.4837905236907731|CAAGCTGCTTCTCCTCTCTCT|MED8_ENST00000372457.4_MISSENSE_p.E5D/MED8_ENST00000290663.6_MISSENSE_p.E5D/RP1-92O14.6_ENST00000436713.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 44445667 rs3762423 T C . PASS FUNCOTATION=[B4GALT2|hg19|chr1|44445667|44445667|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:44445667T>C|ENST00000356836.6|+|1|||||0.6384039900249376|GTGTGAGCTGTCTGAGAGTCT|B4GALT2_ENST00000372324.1_INTRON/B4GALT2_ENST00000434555.2_INTRON/B4GALT2_ENST00000309519.7_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 44445667 rs3762423 T C . PASS FUNCOTATION=[B4GALT2|hg19|chr1|44445667|44445667|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:44445667T>C|ENST00000356836.6|+|1|||||0.6384039900249376|GTGTGAGCTGTCTGAGAGTCT|B4GALT2_ENST00000372324.1_INTRON/B4GALT2_ENST00000434555.2_INTRON/B4GALT2_ENST00000309519.7_FIVE_PRIME_UTR/B4GALT2_ENST00000481924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 45205606 exm53931 T A . PASS FUNCOTATION=[KIF2C|hg19|chr1|45205606|45205606|START_CODON_SNP||SNP|T|T|A|g.chr1:45205606T>A|ENST00000372224.4|+|1|115|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5835411471321695|ACTCTCCGAATGGCCATGGAC|KIF2C_ENST00000372218.4_START_CODON_SNP_p.M1K/KIF2C_ENST00000493027.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 45241113 rs11211031 T C . PASS FUNCOTATION=[RPS8|hg19|chr1|45241113|45241113|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:45241113T>C|ENST00000396651.3|+|1|||||0.5985037406483791|GAGACCCTCCTAGGCTCGTGG|RP11-269F19.2_ENST00000428791.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 45241113 rs11211031 T C . PASS FUNCOTATION=[RPS8|hg19|chr1|45241113|45241113|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:45241113T>C|ENST00000396651.3|+|1|||||0.5985037406483791|GAGACCCTCCTAGGCTCGTGG|RPS8_ENST00000372209.3_FIVE_PRIME_FLANK/RPS8_ENST00000485390.1_FIVE_PRIME_FLANK/RP11-269F19.2_ENST00000428791.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 45477940 variant.3034 G A . PASS FUNCOTATION=[UROD|hg19|chr1|45477940|45477940|START_CODON_SNP||SNP|G|G|A|g.chr1:45477940G>A|ENST00000246337.4|+|1|122|c.3G>A|c.(1-3)atG>atA|p.M1I|0.543640897755611|AGCTGACCATGGAAGCGAATG|UROD_ENST00000494399.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 45965246 indel.3113 ATCCAGCTG A . PASS FUNCOTATION=[CCDC163P|hg19|chr1|45965247|45965254|FRAME_SHIFT_DEL||DEL|TCCAGCTG|TCCAGCTG|-|g.chr1:45965247_45965254delTCCAGCTG|ENST00000432082.1|-|1|401_408|c.28_35delCAGCTGGA|c.(28-36)cagctggatfs|p.Q10fs|0.5465686274509803|GAGAAGCACATCCAGCTGCTCAAACCAG|CCDC163P_ENST00000488405.2_FRAME_SHIFT_DEL_p.Q10fs/CCDC163P_ENST00000490551.3_FRAME_SHIFT_DEL_p.Q10fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783] -chr1 46032295 var_1_46032295 GC G . PASS FUNCOTATION=[AKR1A1|hg19|chr1|46032296|46032296|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46032296delC|ENST00000372070.3|+|4|886|c.140delC|c.(139-141)gctfs|p.A47fs|0.5261845386533666|ATTGATTGTGCTGCTATCTAC|AKR1A1_ENST00000351829.4_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000471651.1_FRAME_SHIFT_DEL_p.A47fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 45965246 indel.3113 ATCCAGCTG A . PASS FUNCOTATION=[CCDC163P|hg19|chr1|45965247|45965254|FRAME_SHIFT_DEL||DEL|TCCAGCTG|TCCAGCTG|-|g.chr1:45965247_45965254delTCCAGCTG|ENST00000432082.1|-|1|401_408|c.28_35delCAGCTGGA|c.(28-36)cagctggatfs|p.Q10fs|0.5465686274509803|GAGAAGCACATCCAGCTGCTCAAACCAG|CCDC163P_ENST00000488405.2_FRAME_SHIFT_DEL_p.Q10fs/CCDC163P_ENST00000490551.3_FRAME_SHIFT_DEL_p.Q10fs/MMACHC_ENST00000401061.4_FIVE_PRIME_FLANK/CCDC163P_ENST00000502793.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783] +chr1 46032295 var_1_46032295 GC G . PASS FUNCOTATION=[AKR1A1|hg19|chr1|46032296|46032296|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46032296delC|ENST00000372070.3|+|4|886|c.140delC|c.(139-141)gctfs|p.A47fs|0.5261845386533666|ATTGATTGTGCTGCTATCTAC|AKR1A1_ENST00000351829.4_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000471651.1_FRAME_SHIFT_DEL_p.A47fs/AKR1A1_ENST00000473038.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46086465 indel.3153 CTT C . PASS FUNCOTATION=[CCDC17|hg19|chr1|46086466|46086467|FRAME_SHIFT_DEL||DEL|TT|TT|-|g.chr1:46086466_46086467delTT|ENST00000528266.1|-|12|1788_1789|c.1638_1639delAA|c.(1636-1638)gcafs|p.D548fs|0.5597014925373134|GCTGCATCTCTTGCATTCACCA|CCDC17_ENST00000421127.2_FRAME_SHIFT_DEL_p.D539fs/CCDC17_ENST00000445048.2_INTRON/CCDC17_ENST00000343901.2_FRAME_SHIFT_DEL_p.D516fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46087133 indel.3158 TC T . PASS FUNCOTATION=[CCDC17|hg19|chr1|46087134|46087134|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:46087134delC|ENST00000528266.1|-|10|1356|c.1207delG|c.(1207-1209)gatfs|p.D403fs|0.600997506234414|CGCAGGAAATCATAGAAAATG|CCDC17_ENST00000421127.2_FRAME_SHIFT_DEL_p.D394fs/CCDC17_ENST00000445048.2_INTRON/CCDC17_ENST00000343901.2_FRAME_SHIFT_DEL_p.D371fs/CCDC17_ENST00000464739.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46120883 indel.3165 CA C . PASS FUNCOTATION=[GPBP1L1|hg19|chr1|46120884|46120884|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:46120884delA|ENST00000290795.3|-|4|1391|c.168delT|c.(166-168)aatfs|p.N56fs|0.4014962593516209|GTAGGGGACCATTGTTAAAAA|GPBP1L1_ENST00000355105.3_FRAME_SHIFT_DEL_p.N56fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46125880 rs3811436 T C . PASS FUNCOTATION=[GPBP1L1|hg19|chr1|46125880|46125880|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:46125880T>C|ENST00000290795.3|-|2|||||0.428927680798005|TCTGTGGTCCTGTTTCTGAAC|GPBP1L1_ENST00000355105.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 46153203 rs3013595 G A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46153203|46153203|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:46153203G>A|ENST00000372025.4|+|1|||||0.5012468827930174|ACACGGAAGGGCACTAAAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 46153203 rs3013595 G A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46153203|46153203|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:46153203G>A|ENST00000372025.4|+|1|||||0.5012468827930174|ACACGGAAGGGCACTAAAATT|GPBP1L1_ENST00000290795.3_FIVE_PRIME_FLANK/GPBP1L1_ENST00000355105.3_FIVE_PRIME_FLANK/TMEM69_ENST00000496366.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46158964 indel.3168 CAT C . PASS FUNCOTATION=[TMEM69|hg19|chr1|46158965|46158966|FRAME_SHIFT_DEL||DEL|AT|AT|-|g.chr1:46158965_46158966delAT|ENST00000372025.4|+|3|1288_1289|c.132_133delAT|c.(130-135)ccatgtfs|p.C45fs|0.4129353233830846|ACTTTTCCCCATGTCCAAGGCC|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46159031 indel.3170 AT A . PASS FUNCOTATION=[TMEM69|hg19|chr1|46159032|46159032|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46159032delT|ENST00000372025.4|+|3|1355|c.199delT|c.(199-201)tccfs|p.S67fs|0.42144638403990026|CTATCATACATCCCCCTGCAG|TMEM69_ENST00000496366.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46543210 indel.3212 CT C . PASS FUNCOTATION=[PIK3R3|hg19|chr1|46543211|46543211|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:46543211delT|ENST00000262741.5|-|3|981|c.290delA|c.(289-291)cagfs|p.Q97fs|0.3516209476309227|ATAATCTCCCTGCATTTTTGT|PIK3R3_ENST00000420542.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000372006.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000423209.1_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000354242.4_FRAME_SHIFT_DEL_p.Q97fs/PIK3R3_ENST00000340332.6_FRAME_SHIFT_DEL_p.Q61fs/PIK3R3_ENST00000540385.1_FRAME_SHIFT_DEL_p.Q143fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46598273 rs1707303 A C . PASS FUNCOTATION=[PIK3R3|hg19|chr1|46598273|46598273|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:46598273A>C|ENST00000262741.5|-|1|||||0.6708229426433915|AACCAACCCGACCGCACCAAC|PIK3R3_ENST00000420542.1_INTRON/PIK3R3_ENST00000372006.1_INTRON/PIK3R3_ENST00000423209.1_FIVE_PRIME_UTR/PIK3R3_ENST00000354242.4_INTRON/PIK3R3_ENST00000340332.6_INTRON/PIK3R3_ENST00000540385.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 46646780 exm56088 A G . PASS FUNCOTATION=[TSPAN1|hg19|chr1|46646780|46646780|START_CODON_SNP||SNP|A|A|G|g.chr1:46646780A>G|ENST00000372003.1|+|3|465|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5187032418952618|AGGAGCCACCATGCAGTGCTT|TSPAN1_ENST00000498443.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 46646780 exm56088 A G . PASS FUNCOTATION=[TSPAN1|hg19|chr1|46646780|46646780|START_CODON_SNP||SNP|A|A|G|g.chr1:46646780A>G|ENST00000372003.1|+|3|465|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5187032418952618|AGGAGCCACCATGCAGTGCTT|PIK3R3_ENST00000540385.1_FIVE_PRIME_FLANK/TSPAN1_ENST00000498443.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46826473 indel.3258 TG T . PASS FUNCOTATION=[NSUN4|hg19|chr1|46826474|46826474|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:46826474delG|ENST00000474844.1|+|5|1501|c.852delG|c.(850-852)ttgfs|p.L284fs|0.4688279301745636|GACAGATATTGCCTGTGCTGC|NSUN4_ENST00000537428.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000536062.1_FRAME_SHIFT_DEL_p.L235fs/NSUN4_ENST00000498008.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 46905802 rs11211276 G T . PASS FUNCOTATION=[RP5-1109J22.1|hg19|chr1|46905802|46905802|RNA||SNP|G|G|T|g.chr1:46905802G>T|ENST00000429784.2|+|||c.e3-536G>T|||0.5187032418952618|CTGAAGTTGAGATTAGGTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47005597 psy_rs75939162 C T . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47005597|47005597|RNA||SNP|C|C|T|g.chr1:47005597C>T|ENST00000602433.1|+|||c.e2-1005C>T|||0.5586034912718204|CCTCTTGGCTCCAGATTCCTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9918_%2C_0.008187|false|false|1||false|false|false|MKNK1-AS1:100507423|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|75939162|47005597|false|false|0|true|0|false|0.984271_%2C_0.0157291|false|false|false|SNV|true|0x050100080005040436000100|1|false|132|rs75939162] @@ -1209,12 +1209,12 @@ chr1 47006657 rs2486164 C T . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47006657|470 chr1 47011762 rs885125 A G . PASS FUNCOTATION=[MKNK1-AS1|hg19|chr1|47011762|47011762|RNA||SNP|A|A|G|g.chr1:47011762A>G|ENST00000602433.1|+|||c.e3+2322A>G|||0.5211970074812967|GGTCTGTCGCACTGTTGTCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4273_%2C_0.5727|false|false|1||false|true|true|MKNK1-AS1:100507423_%7C_KNCN:148930|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|885125|47011762|false|false|0|true|0|false|0.473659_%2C_0.526341|false|true|false|SNV|true|0x05010088000517053f000100|1|false|86|rs885125] chr1 47013404 exm56794 A G . PASS FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646] chr1 47075329 exm56885 A G . PASS FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077] -chr1 47264724 rs2297813 G T . PASS FUNCOTATION=[CYP4B1|hg19|chr1|47264724|47264724|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:47264724G>T|ENST00000371923.4|+|1|||||0.5610972568578554|AGGCAGGTCAGATGAAGGCTA|CYP4B1_ENST00000271153.4_FIVE_PRIME_UTR/CYP4B1_ENST00000546128.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 47264724 rs2297813 G T . PASS FUNCOTATION=[CYP4B1|hg19|chr1|47264724|47264724|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:47264724G>T|ENST00000371923.4|+|1|||||0.5610972568578554|AGGCAGGTCAGATGAAGGCTA|CYP4B1_ENST00000271153.4_FIVE_PRIME_UTR/CYP4B1_ENST00000371919.4_FIVE_PRIME_FLANK/CYP4B1_ENST00000546128.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47309265 exm2264832 A G . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47309265|47309265|RNA||SNP|A|A|G|g.chr1:47309265A>G|ENST00000505841.1|-|||c.e12+415T>C|||0.4488778054862843|CTTTTGTAGGAAAACAAGATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47309265 rs10749865 A G . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47309265|47309265|RNA||SNP|A|A|G|g.chr1:47309265A>G|ENST00000505841.1|-|||c.e12+415T>C|||0.4488778054862843|CTTTTGTAGGAAAACAAGATC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47326226 rs6679068 T C . PASS FUNCOTATION=[CYP4Z2P|hg19|chr1|47326226|47326226|RNA||SNP|T|T|C|g.chr1:47326226T>C|ENST00000505841.1|-|||c.e9+767A>G|||0.38902743142144636|CAATGCTAGATATTGGTTCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 47400133 indel.3307 AG A . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400134|47400134|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47400134delG|ENST00000310638.4|-|7|921|c.888delC|c.(886-888)ctcfs|p.L297fs|0.543640897755611|CTTTGGCCAAGAGGAGGATAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.G246fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L297fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L298fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.G142fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 47400148 indel.3308 GA G . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400149|47400149|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:47400149delA|ENST00000310638.4|-|7|906|c.873delT|c.(871-873)tttfs|p.L292fs|0.5386533665835411|GGATATCCAGAAAATCCAAAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.S240fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L292fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L293fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.S136fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 47400133 indel.3307 AG A . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400134|47400134|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47400134delG|ENST00000310638.4|-|7|921|c.888delC|c.(886-888)ctcfs|p.L297fs|0.543640897755611|CTTTGGCCAAGAGGAGGATAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.G246fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L297fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L298fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.G142fs/CYP4A11_ENST00000496519.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 47400148 indel.3308 GA G . PASS FUNCOTATION=[CYP4A11|hg19|chr1|47400149|47400149|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:47400149delA|ENST00000310638.4|-|7|906|c.873delT|c.(871-873)tttfs|p.L292fs|0.5386533665835411|GGATATCCAGAAAATCCAAAT|CYP4A11_ENST00000462347.1_FRAME_SHIFT_DEL_p.S240fs/CYP4A11_ENST00000371905.1_FRAME_SHIFT_DEL_p.L292fs/CYP4A11_ENST00000371904.4_FRAME_SHIFT_DEL_p.L293fs/CYP4A11_ENST00000457840.2_FRAME_SHIFT_DEL_p.S136fs/CYP4A11_ENST00000496519.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47514283 indel.3316 TG T . PASS FUNCOTATION=[CYP4X1|hg19|chr1|47514284|47514284|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:47514284delG|ENST00000371901.3|+|10|1504|c.1255delG|c.(1255-1257)gtcfs|p.V419fs|0.4014962593516209|CAACCCTGCTGTCTGGAAAAA|CYP4X1_ENST00000538609.1_FRAME_SHIFT_DEL_p.V418fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47610057 indel.3329 AC A . PASS FUNCOTATION=[CYP4A22|hg19|chr1|47610058|47610058|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:47610058delC|ENST00000371891.3|+|7|850|c.820delC|c.(820-822)ctafs|p.L274fs|0.5511221945137157|GAAGGCTCAACTACAGAAGGA|CYP4A22_ENST00000371890.3_FRAME_SHIFT_DEL_p.T222fs/CYP4A22_ENST00000294337.3_FRAME_SHIFT_DEL_p.L274fs/CYP4A22-AS1_ENST00000444042.2_LINCRNA/CYP4A22_ENST00000485117.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 47854514 rs17103186 C T . PASS FUNCOTATION=[RP11-511I2.2|hg19|chr1|47854514|47854514|RNA||SNP|C|C|T|g.chr1:47854514C>T|ENST00000420876.1|-|||c.e2+2486G>A|||0.49875311720698257|AGAGATAGTCCGGGGTAGGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1225,10 +1225,10 @@ chr1 48630438 rs10788882 G C . PASS FUNCOTATION=[SKINTL|hg19|chr1|48630438|48630 chr1 50673575 psy_rs1467725 G A . PASS FUNCOTATION=[RP11-567C20.3|hg19|chr1|50673575|50673575|RNA||SNP|G|G|A|g.chr1:50673575G>A|ENST00000440897.1|-|||c.e2+1595C>T|||0.42643391521197005|CAAAAAAGCAGGAAAGGAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 50679059 rs2480687 G A . PASS FUNCOTATION=[RP11-567C20.3|hg19|chr1|50679059|50679059|RNA||SNP|G|G|A|g.chr1:50679059G>A|ENST00000440897.1|-|||c.e2+7079C>T|||0.4389027431421446|CCTCAATGGTGTCCCTAGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 51770773 indel.3397 CA C . PASS FUNCOTATION=[TTC39A|hg19|chr1|51770774|51770774|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:51770774delA|ENST00000262676.5|-|8|891|c.729delT|c.(727-729)tttfs|p.F243fs|0.57356608478803|AAAACCCCACAAACTCCAACA|TTC39A_ENST00000447632.2_FRAME_SHIFT_DEL_p.F247fs/TTC39A_ENST00000413473.2_FRAME_SHIFT_DEL_p.F215fs/TTC39A_ENST00000262675.7_FRAME_SHIFT_DEL_p.F184fs/TTC39A_ENST00000371750.5_FRAME_SHIFT_DEL_p.F212fs/TTC39A_ENST00000371747.3_FRAME_SHIFT_DEL_p.F246fs/TTC39A_ENST00000451380.1_FRAME_SHIFT_DEL_p.F211fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 52521798 rs2809954 G T . PASS FUNCOTATION=[TXNDC12|hg19|chr1|52521798|52521798|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:52521798G>T|ENST00000371626.4|-|1|||||0.5586034912718204|GAGACTGCAAGCCCCAGGATG|BTF3L4_ENST00000313334.8_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 52521798 rs2809954 G T . PASS FUNCOTATION=[TXNDC12|hg19|chr1|52521798|52521798|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:52521798G>T|ENST00000371626.4|-|1|||||0.5586034912718204|GAGACTGCAAGCCCCAGGATG|BTF3L4_ENST00000313334.8_FIVE_PRIME_UTR/BTF3L4_ENST00000472944.2_FIVE_PRIME_FLANK/BTF3L4_ENST00000484036.1_FIVE_PRIME_FLANK/BTF3L4_ENST00000489308.2_FIVE_PRIME_FLANK/BTF3L4_ENST00000533836.1_FIVE_PRIME_FLANK/TXNDC12_ENST00000610127.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 52859335 indel.3466 GA G . PASS FUNCOTATION=[ORC1|hg19|chr1|52859336|52859336|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:52859336delA|ENST00000371568.3|-|6|1081|c.861delT|c.(859-861)tctfs|p.P288fs|0.4463840399002494|TCAGAGCTGGAGACAAGGTTT|ORC1_ENST00000371566.1_FRAME_SHIFT_DEL_p.P288fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 53158510 indel.3481 CTTCCAAATAGTCCA C . PASS FUNCOTATION=[SELRC1|hg19|chr1|53158511|53158524|FRAME_SHIFT_DEL||DEL|TTCCAAATAGTCCA|TTCCAAATAGTCCA|-|g.chr1:53158511_53158524delTTCCAAATAGTCCA|ENST00000371538.3|-|2|176_189|c.122_135delTGGACTATTTGGAA|c.(121-138)gtggactatttggaagggfs|p.V41fs|0.5289855072463768|TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA|SELRC1_ENST00000486918.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 53163901 indel.3482 TC T . PASS FUNCOTATION=[SELRC1|hg19|chr1|53163902|53163902|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:53163902delC|ENST00000371538.3|-|1|138|c.97delG|c.(97-99)gacfs|p.D33fs|0.6982543640897756|CCGTCCGGGTCCTTCTCGTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 53163901 indel.3482 TC T . PASS FUNCOTATION=[SELRC1|hg19|chr1|53163902|53163902|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:53163902delC|ENST00000371538.3|-|1|138|c.97delG|c.(97-99)gacfs|p.D33fs|0.6982543640897756|CCGTCCGGGTCCTTCTCGTGG|SELRC1_ENST00000486918.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 53741391 exm60486 A G . PASS FUNCOTATION=[LRP8|hg19|chr1|53741391|53741391|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:53741391A>G|ENST00000465675.1|-|5|||||0.57356608478803|TCCCATCCCCACACTGGAACT|LRP8_ENST00000347547.2_INTRON/LRP8_ENST00000306052.6_SILENT_p.C306C/LRP8_ENST00000371454.2_SILENT_p.C306C/LRP8_ENST00000354412.3_SILENT_p.C177C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 54354613 variant.3577 G A . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354613|54354613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:54354613G>A|ENST00000072644.1|-|3|||||0.38403990024937656|GCTGCCATTCGGCCAGTGAGT|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_NONSENSE_p.R25*/YIPF1_ENST00000469457.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 54354658 exm60875 T G . PASS FUNCOTATION=[YIPF1|hg19|chr1|54354658|54354658|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:54354658T>G|ENST00000072644.1|-|3|||||0.36658354114713215|ATTTGCAGGGTTCTAAAAGAA|YIPF1_ENST00000371399.1_INTRON/YIPF1_ENST00000539954.1_SPLICE_SITE_p.T10P/YIPF1_ENST00000469457.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1254,57 +1254,57 @@ chr1 63300482 indel.3964 CA C . PASS FUNCOTATION=[ATG4C|hg19|chr1|63300483|63300 chr1 63902553 indel.3980 TCC T . PASS FUNCOTATION=[ALG6|hg19|chr1|63902554|63902555|FRAME_SHIFT_DEL||DEL|CC|CC|-|g.chr1:63902554_63902555delCC|ENST00000263440.4|+|14|1600_1601|c.1393_1394delCC|c.(1393-1395)cctfs|p.P465fs|0.35572139303482586|ACTGGATCCTCCTCAGAAACTA|ALG6_ENST00000371108.4_FRAME_SHIFT_DEL_p.P463fs/ALG6_ENST00000494765.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 63999793 indel.3992 CAA C . PASS FUNCOTATION=[EFCAB7|hg19|chr1|63999794|63999795|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:63999794_63999795delAA|ENST00000371088.4|+|6|956_957|c.711_712delAA|c.(709-714)gcaaccfs|p.T238fs|0.32587064676616917|TACTGTCAGCAACCAGGAAGTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 64669794 indel.4009 TATAAG T . PASS FUNCOTATION=[UBE2U|hg19|chr1|64669795|64669799|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|ATAAG|ATAAG|-|g.chr1:64669795_64669799delATAAG|ENST00000371076.3|+|1|305_309|c.62_66delATAAG|c.(61-66)tataagfs|p.Y21fs|0.3654320987654321|GAGAACAATTATAAGGTAAGTACTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 64676467 var_1_64676467 AC A . PASS FUNCOTATION=[UBE2U|hg19|chr1|64676468|64676468|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:64676468delC|ENST00000371076.3|+|4|528|c.285delC|c.(283-285)aacfs|p.P96fs|0.30423940149625933|TTTTGGACAACCCTGAGAAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 64676467 var_1_64676467 AC A . PASS FUNCOTATION=[UBE2U|hg19|chr1|64676468|64676468|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:64676468delC|ENST00000371076.3|+|4|528|c.285delC|c.(283-285)aacfs|p.P96fs|0.30423940149625933|TTTTGGACAACCCTGAGAAGT|UBE2U_ENST00000464349.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 67288063 indel.4057 G GCT . PASS FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129] chr1 67474834 indel.4082 TAA T . PASS FUNCOTATION=[SLC35D1|hg19|chr1|67474835|67474836|FRAME_SHIFT_DEL||DEL|AA|AA|-|g.chr1:67474835_67474836delAA|ENST00000235345.5|-|11|979_980|c.891_892delTT|c.(889-891)actfs|p.I299fs|0.26616915422885573|ATTCCAATATAAGTTATTAATA|SLC35D1_ENST00000506472.2_FRAME_SHIFT_DEL_p.I220fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823] +chr1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823] chr1 68564373 indel.4122 TC T . PASS FUNCOTATION=[WLS|hg19|chr1|68564374|68564374|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:68564374delC|ENST00000354777.2|-|12|1820|c.1573delG|c.(1573-1575)gaafs|p.E525fs|0.3341645885286783|CTGAACAATTCTTGATAAAGT|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.E527fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 68564392 indel.4123 CA C . PASS FUNCOTATION=[WLS|hg19|chr1|68564393|68564393|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:68564393delA|ENST00000354777.2|-|12|1801|c.1554delT|c.(1552-1554)tttfs|p.F518fs|0.33915211970074816|GTTCCGAAACAAACAAAGCAC|WLS_ENST00000540432.1_FRAME_SHIFT_DEL_p.F520fs/GNG12-AS1_ENST00000420587.1_RNA/GNG12-AS1_ENST00000413628.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 70820699 indel.4171 GC G . PASS FUNCOTATION=[HHLA3|hg19|chr1|70820700|70820700|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70820700delC|ENST00000359875.5|+|1|205|c.66delC|c.(64-66)tgcfs|p.C22fs|0.5586034912718204|CAGAGGAATGCAGAATGACGC|HHLA3_ENST00000370940.5_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000361764.4_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000531950.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000432224.1_FRAME_SHIFT_DEL_p.C22fs/HHLA3_ENST00000486110.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 70904381 indel.4182 AC A . PASS FUNCOTATION=[CTH|hg19|chr1|70904382|70904382|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:70904382delC|ENST00000370938.3|+|11|1207|c.1064delC|c.(1063-1065)actfs|p.T355fs|0.38902743142144636|GCAATCATGACTCATGCATCA|CTH_ENST00000346806.2_FRAME_SHIFT_DEL_p.T311fs/CTH_ENST00000411986.2_FRAME_SHIFT_DEL_p.T323fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 71418631 indel.4185 TG T . PASS FUNCOTATION=[PTGER3|hg19|chr1|71418632|71418632|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:71418632delG|ENST00000356595.4|-|4|1427|c.1215delC|c.(1213-1215)agcfs|p.S405fs|0.3740648379052369|ACACATTAATGCTGCTCACGA|PTGER3_ENST00000414819.1_THREE_PRIME_UTR/PTGER3_ENST00000370931.3_INTRON/PTGER3_ENST00000460330.1_INTRON/PTGER3_ENST00000370932.2_INTRON/PTGER3_ENST00000351052.5_INTRON/PTGER3_ENST00000354608.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 74663709 rs11806946 G A . PASS FUNCOTATION=[LRRIQ3|hg19|chr1|74663709|74663709|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:74663709G>A|ENST00000370911.3|-|1|||||0.5635910224438903|GCCCTTATGAGTTGGAGACAA|LRRIQ3_ENST00000370909.2_FIVE_PRIME_UTR/LRRIQ3_ENST00000354431.4_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 74663709 rs11806946 G A . PASS FUNCOTATION=[LRRIQ3|hg19|chr1|74663709|74663709|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:74663709G>A|ENST00000370911.3|-|1|||||0.5635910224438903|GCCCTTATGAGTTGGAGACAA|LRRIQ3_ENST00000370909.2_FIVE_PRIME_UTR/LRRIQ3_ENST00000354431.4_FIVE_PRIME_UTR/TNNI3K_ENST00000370891.2_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370893.1_FIVE_PRIME_FLANK/FPGT_ENST00000370894.5_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370895.1_FIVE_PRIME_FLANK/FPGT_ENST00000370898.3_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000370899.3_FIVE_PRIME_FLANK/FPGT_ENST00000467578.2_FIVE_PRIME_FLANK/FPGT_ENST00000482102.2_FIVE_PRIME_FLANK/FPGT_ENST00000524915.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000533006.1_FIVE_PRIME_FLANK/FPGT_ENST00000534056.1_FIVE_PRIME_FLANK/FPGT-TNNI3K_ENST00000557284.2_FIVE_PRIME_FLANK/FPGT_ENST00000609362.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 74737317 indel.4219 TGGAGC T . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74737318|74737322|FRAME_SHIFT_DEL||DEL|GGAGC|GGAGC|-|g.chr1:74737318_74737322delGGAGC|ENST00000370899.3|+|7|709_713|c.673_677delGGAGC|c.(673-678)ggagctfs|p.G225fs|0.3950617283950617|GCTTCACAGTGGAGCTGATATACAG|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G124fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G238fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G225fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G225fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|761357894|74737318|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs761357894] chr1 74835230 indel.4234 CAG C . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74835231|74835232|FRAME_SHIFT_DEL||DEL|AG|AG|-|g.chr1:74835231_74835232delAG|ENST00000370899.3|+|18|1968_1969|c.1932_1933delAG|c.(1930-1935)tcagggfs|p.G646fs|0.43034825870646765|AATACATATCAGGGGGTTCTCT|TNNI3K_ENST00000326637.3_FRAME_SHIFT_DEL_p.G545fs/FPGT-TNNI3K_ENST00000557284.2_FRAME_SHIFT_DEL_p.G659fs/FPGT-TNNI3K_ENST00000370895.1_FRAME_SHIFT_DEL_p.G646fs/TNNI3K_ENST00000370891.2_FRAME_SHIFT_DEL_p.G646fs/RP11-439H8.4_ENST00000415549.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TNNI3K:51086_%7C_FPGT-TNNI3K:100526835|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748927643|74835231|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs748927643] chr1 75036872 indel.4252 CT C . PASS FUNCOTATION=[C1orf173|hg19|chr1|75036873|75036873|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:75036873delT|ENST00000326665.5|-|14|4741|c.4521delA|c.(4519-4521)cgafs|p.E1508fs|0.5336658354114713|GTTGCTTCTCTCGGGTTTCAG|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 75038572 var_1_75038572 TC T . PASS FUNCOTATION=[C1orf173|hg19|chr1|75038573|75038573|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:75038573delC|ENST00000326665.5|-|14|3041|c.2821delG|c.(2821-2823)gatfs|p.D941fs|0.5336658354114713|TCTCCGACATCACTCACAGCC|C1orf173_ENST00000433746.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 75198740 kgp9120456 A C . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198740|75198740|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:75198740A>C|ENST00000417775.1|-|1|||||0.5311720698254364|TCCACCCAGGATGTGCGCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 75198788 kgp15455600 C A . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198788|75198788|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:75198788C>A|ENST00000417775.1|-|1|||||0.5336658354114713|CACCCCTAGGCGAAGGCACTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 75198740 kgp9120456 A C . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198740|75198740|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:75198740A>C|ENST00000417775.1|-|1|||||0.5311720698254364|TCCACCCAGGATGTGCGCCTC|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 75198788 kgp15455600 C A . PASS FUNCOTATION=[CRYZ|hg19|chr1|75198788|75198788|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:75198788C>A|ENST00000417775.1|-|1|||||0.5336658354114713|CACCCCTAGGCGAAGGCACTA|CRYZ_ENST00000340866.5_FIVE_PRIME_FLANK/CRYZ_ENST00000370871.3_FIVE_PRIME_FLANK/CRYZ_ENST00000370872.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 76200513 indel.4306 AG A . PASS FUNCOTATION=[ACADM|hg19|chr1|76200514|76200514|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76200514delG|ENST00000370834.5|+|7|603|c.525delG|c.(523-525)aagfs|p.K176fs|0.32418952618453867|ATCAACAAAAGAAGAAGTATT|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.K147fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.K143fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.K107fs/ACADM_ENST00000543667.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 76226844 indel.4318 TG T . PASS FUNCOTATION=[ACADM|hg19|chr1|76226845|76226845|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76226845delG|ENST00000370834.5|+|12|1161|c.1083delG|c.(1081-1083)atgfs|p.M361fs|0.3940149625935162|AAATGGCAATGAAAGTTGAAC|ACADM_ENST00000420607.2_FRAME_SHIFT_DEL_p.M332fs/ACADM_ENST00000370841.4_FRAME_SHIFT_DEL_p.M328fs/ACADM_ENST00000541113.1_FRAME_SHIFT_DEL_p.M292fs/ACADM_ENST00000543667.1_FRAME_SHIFT_DEL_p.M139fs/ACADM_ENST00000481374.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 76255706 indel.4325 CA C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76255707|76255707|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76255707delA|ENST00000319942.3|+|4|450|c.380delA|c.(379-381)cagfs|p.Q127fs|0.3516209476309227|AAAGGTCTACAGAAAGAAGAT|RABGGTB_ENST00000370826.3_FRAME_SHIFT_DEL_p.Q127fs/RABGGTB_ENST00000535300.1_FIVE_PRIME_UTR/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 76260335 exm69323 G C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76260335|76260335|NONSTOP||SNP|G|G|C|g.chr1:76260335G>C|ENST00000319942.3|+|9|1067|c.996G>C|c.(994-996)taG>taC|p.*332Y|0.286783042394015|TAGTGAGCTAGATTCATTGAA|RABGGTB_ENST00000535300.1_NONSTOP_p.*158Y/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 76260335 exm69323 G C . PASS FUNCOTATION=[RABGGTB|hg19|chr1|76260335|76260335|NONSTOP||SNP|G|G|C|g.chr1:76260335G>C|ENST00000319942.3|+|9|1067|c.996G>C|c.(994-996)taG>taC|p.*332Y|0.286783042394015|TAGTGAGCTAGATTCATTGAA|RABGGTB_ENST00000535300.1_NONSTOP_p.*158Y/MSH4_ENST00000263187.3_FIVE_PRIME_FLANK/RABGGTB_ENST00000496055.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 76349331 indel.4337 AG A . PASS FUNCOTATION=[MSH4|hg19|chr1|76349332|76349332|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:76349332delG|ENST00000263187.3|+|15|2036|c.1933delG|c.(1933-1935)gcafs|p.A645fs|0.30673316708229426|TGATACTTTAGCAATCAAACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 76397779 indel.4348 TA T . PASS FUNCOTATION=[ASB17|hg19|chr1|76397780|76397780|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:76397780delA|ENST00000284142.6|-|1|338|c.197delT|c.(196-198)ctafs|p.L66fs|0.3740648379052369|ATCTGTGAGTAGTGCGTCAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 78207409 exm69937 C T . PASS FUNCOTATION=[USP33|hg19|chr1|78207409|78207409|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:78207409C>T|ENST00000370794.3|-|2|||||0.2743142144638404|TCCTGTTTCCCAAGACTTTCA|USP33_ENST00000370793.1_MISSENSE_p.G23R/USP33_ENST00000370792.3_MISSENSE_p.G23R/USP33_ENST00000357428.1_MISSENSE_p.G23R/USP33_ENST00000528150.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 78245342 exm69939 T G . PASS FUNCOTATION=[FAM73A|hg19|chr1|78245342|78245342|START_CODON_SNP||SNP|T|T|G|g.chr1:78245342T>G|ENST00000370791.3|+|1|34|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.6059850374064838|GCCTTCTCCATGTCAGACTGC|FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 78392430 indel.4380 AG A . PASS FUNCOTATION=[NEXN|hg19|chr1|78392431|78392431|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:78392431delG|ENST00000334785.7|+|8|901|c.718delG|c.(718-720)gaafs|p.E240fs|0.33665835411471323|AGCAAAAAAAGAATCACTTTC|NEXN_ENST00000330010.8_FRAME_SHIFT_DEL_p.E176fs/NEXN_ENST00000457030.1_FRAME_SHIFT_DEL_p.E226fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 78392430 indel.4380 AG A . PASS FUNCOTATION=[NEXN|hg19|chr1|78392431|78392431|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:78392431delG|ENST00000334785.7|+|8|901|c.718delG|c.(718-720)gaafs|p.E240fs|0.33665835411471323|AGCAAAAAAAGAATCACTTTC|NEXN_ENST00000330010.8_FRAME_SHIFT_DEL_p.E176fs/NEXN_ENST00000457030.1_FRAME_SHIFT_DEL_p.E226fs/NEXN_ENST00000480732.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 78546379 indel.4391 CA C . PASS FUNCOTATION=[GIPC2|hg19|chr1|78546380|78546380|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:78546380delA|ENST00000370759.3|+|2|454|c.262delA|c.(262-264)acafs|p.T88fs|0.32418952618453867|CACTTTAAACACACCTAAAAT|GIPC2_ENST00000476882.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 82302600 rs12064537 T C . PASS FUNCOTATION=[LPHN2|hg19|chr1|82302600|82302600|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:82302600T>C|ENST00000370728.1|+|5|||||0.341645885286783|GACTGATGGTTTTGATGAAGC|LPHN2_ENST00000370730.1_FIVE_PRIME_UTR/LPHN2_ENST00000370715.1_FIVE_PRIME_UTR/LPHN2_ENST00000319517.6_FIVE_PRIME_UTR/LPHN2_ENST00000370713.1_FIVE_PRIME_UTR/LPHN2_ENST00000370725.1_FIVE_PRIME_UTR/LPHN2_ENST00000370723.1_FIVE_PRIME_UTR/LPHN2_ENST00000370727.1_FIVE_PRIME_UTR/LPHN2_ENST00000370721.1_FIVE_PRIME_UTR/LPHN2_ENST00000359929.3_FIVE_PRIME_UTR/LPHN2_ENST00000370717.2_FIVE_PRIME_UTR/LPHN2_ENST00000394879.1_FIVE_PRIME_UTR/LPHN2_ENST00000271029.4_FIVE_PRIME_UTR/LPHN2_ENST00000335786.5_FIVE_PRIME_UTR/LPHN2_ENST00000469377.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 84768912 exm70876 C T . PASS FUNCOTATION=[SAMD13|hg19|chr1|84768912|84768912|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:84768912C>T|ENST00000370668.3|+|2|||||0.4139650872817955|ACCCTGCAGCCTTCCCATGCT|SAMD13_ENST00000370669.1_FIVE_PRIME_UTR/SAMD13_ENST00000394834.3_FIVE_PRIME_UTR/SAMD13_ENST00000370670.2_FIVE_PRIME_UTR/SAMD13_ENST00000370673.3_MISSENSE_p.L13F/SAMD13_ENST00000370671.3_MISSENSE_p.L19F|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 85020683 exm71046 C G . PASS FUNCOTATION=[CTBS|hg19|chr1|85020683|85020683|NONSTOP||SNP|C|C|G|g.chr1:85020683C>G|ENST00000370630.5|-|7|1206|c.1157G>C|c.(1156-1158)tGa>tCa|p.*386S|0.3541147132169576|AAAAGATGTTCATCTCTGTAA|CTBS_ENST00000477677.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743] +chr1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743] chr1 89530860 rs17130722 A G . PASS FUNCOTATION=[GBP1|hg19|chr1|89530860|89530860|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:89530860A>G|ENST00000370473.4|-|1|||||0.40648379052369077|TTTTCTCCTTAGTTCACGAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 92729242 indel.4840 A AG . PASS FUNCOTATION=[GLMN|hg19|chr1|92729242|92729243|FRAME_SHIFT_INS||INS|-|-|G|g.chr1:92729242_92729243insG|ENST00000370360.3|-|15|1429|c.1346_1347insC|c.(1345-1347)cttfs|p.L450fs|0.325|CAAATCAAGAAGGGAAATCA|GLMN_ENST00000534881.1_FRAME_SHIFT_INS_p.L436fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GLMN:11146|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763357116|92729242|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs763357116] -chr1 93645613 var_1_93645613 G A . PASS FUNCOTATION=[CCDC18|hg19|chr1|93645613|93645613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:93645613G>A|ENST00000343253.7|+|1|||||0.6483790523690773|GCACTTACTTGGTACTCGATC|TMED5_ENST00000370282.3_NONSENSE_p.Q63*/TMED5_ENST00000479918.1_NONSENSE_p.Q63*/TMED5_ENST00000370280.1_NONSENSE_p.Q63*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 93645613 var_1_93645613 G A . PASS FUNCOTATION=[CCDC18|hg19|chr1|93645613|93645613|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:93645613G>A|ENST00000343253.7|+|1|||||0.6483790523690773|GCACTTACTTGGTACTCGATC|TMED5_ENST00000370282.3_NONSENSE_p.Q63*/TMED5_ENST00000479918.1_NONSENSE_p.Q63*/TMED5_ENST00000370280.1_NONSENSE_p.Q63*/CCDC18_ENST00000334652.5_FIVE_PRIME_FLANK/CCDC18_ENST00000338949.4_FIVE_PRIME_FLANK/CCDC18_ENST00000401026.3_FIVE_PRIME_FLANK/CCDC18_ENST00000557479.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 94344716 rs2235971 C T . PASS FUNCOTATION=[DNTTIP2|hg19|chr1|94344716|94344716|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:94344716C>T|ENST00000436063.2|-|1|||||0.6059850374064838|TTTCCGGCTCCCTCGCGACCA|DNTTIP2_ENST00000460191.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 94697167 exm76553 T C . PASS FUNCOTATION=[ARHGAP29|hg19|chr1|94697167|94697167|START_CODON_SNP||SNP|T|T|C|g.chr1:94697167T>C|ENST00000260526.6|-|2|184|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.3541147132169576|TGAGCAATCATCCTTTCATGT|ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 100174455 exm1689665 T C . PASS FUNCOTATION=[FRRS1|hg19|chr1|100174455|100174455|NONSTOP||SNP|T|T|C|g.chr1:100174455T>C|ENST00000287474.5|-|17|2482|c.1880A>G|c.(1879-1881)tAg>tGg|p.*627W|0.36159600997506236|AGAATTCCTCTACAGACATGA|FRRS1_ENST00000414213.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 101354386 newrs77649301 T C . PASS FUNCOTATION=[EXTL2|hg19|chr1|101354386|101354386|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr1:101354386T>C|ENST00000370113.3|-|2|||||0.30423940149625933|CACTTGTCACTATTAAGATAA|EXTL2_ENST00000370114.3_SPLICE_SITE/EXTL2_ENST00000535414.1_SPLICE_SITE/EXTL2_ENST00000480774.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 101361178 rs17123491 C T . PASS FUNCOTATION=[EXTL2|hg19|chr1|101361178|101361178|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:101361178C>T|ENST00000370114.3|-|1|||||0.5361596009975063|GGAATGGATTCCTAAGATTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 101361178 rs17123491 C T . PASS FUNCOTATION=[EXTL2|hg19|chr1|101361178|101361178|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:101361178C>T|ENST00000370114.3|-|1|||||0.5361596009975063|GGAATGGATTCCTAAGATTTG|EXTL2_ENST00000370113.3_FIVE_PRIME_FLANK/EXTL2_ENST00000480774.1_FIVE_PRIME_FLANK/EXTL2_ENST00000535414.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 109289353 rs1124427 C G . PASS FUNCOTATION=[STXBP3|hg19|chr1|109289353|109289353|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109289353C>G|ENST00000370008.3|+|1|||||0.6658354114713217|TCCGCAGTGTCGGGAAGATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 109633256 rs521734 C G . PASS FUNCOTATION=[TMEM167B|hg19|chr1|109633256|109633256|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109633256C>G|ENST00000338272.8|+|1|||||0.571072319201995|CGGCCAAGTACGAAGCCTTCG|RP5-1065J22.8_ENST00000608574.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110198727 kgp3155172 C G . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198727|110198727|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:110198727C>G|ENST00000369836.4|+|1|||||0.6508728179551122|CCTCCTAGTGCTTCCGGACCT|GSTM4_ENST00000336075.5_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110198788 kgp25277353 T C . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198788|110198788|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110198788T>C|ENST00000369836.4|+|1|||||0.6583541147132169|TTCCAGCCAGTGAGGATCCAG|GSTM4_ENST00000326729.5_FIVE_PRIME_UTR/GSTM4_ENST00000336075.5_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110210671 rs625456 G T . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210671|110210671|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:110210671G>T|ENST00000369831.2|+|1|||||0.6783042394014963|ACCCTCTCTGGGCCTCTCACA|GSTM2_ENST00000442650.1_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 109633256 rs521734 C G . PASS FUNCOTATION=[TMEM167B|hg19|chr1|109633256|109633256|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:109633256C>G|ENST00000338272.8|+|1|||||0.571072319201995|CGGCCAAGTACGAAGCCTTCG|TMEM167B_ENST00000473828.1_FIVE_PRIME_FLANK/RP5-1065J22.8_ENST00000608574.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110198727 kgp3155172 C G . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198727|110198727|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:110198727C>G|ENST00000369836.4|+|1|||||0.6508728179551122|CCTCCTAGTGCTTCCGGACCT|GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000326729.5_FIVE_PRIME_FLANK/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110198788 kgp25277353 T C . PASS FUNCOTATION=[GSTM4|hg19|chr1|110198788|110198788|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110198788T>C|ENST00000369836.4|+|1|||||0.6583541147132169|TTCCAGCCAGTGAGGATCCAG|GSTM4_ENST00000326729.5_FIVE_PRIME_UTR/GSTM4_ENST00000336075.5_FIVE_PRIME_UTR/GSTM4_ENST00000369833.1_FIVE_PRIME_FLANK/GSTM4_ENST00000495742.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110210671 rs625456 G T . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210671|110210671|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:110210671G>T|ENST00000369831.2|+|1|||||0.6783042394014963|ACCCTCTCTGGGCCTCTCACA|GSTM2_ENST00000442650.1_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR/GSTM2_ENST00000241337.4_FIVE_PRIME_FLANK/GSTM2_ENST00000369829.2_FIVE_PRIME_FLANK/GSTM2_ENST00000414179.2_FIVE_PRIME_FLANK/GSTM2_ENST00000460717.3_FIVE_PRIME_FLANK/GSTM2_ENST00000464206.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 110210740 exm1692076 G A . PASS FUNCOTATION=[GSTM2|hg19|chr1|110210740|110210740|START_CODON_SNP||SNP|G|G|A|g.chr1:110210740G>A|ENST00000241337.4|+|1|53|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6932668329177057|CCAGCACCATGCCCATGACAC|GSTM2_ENST00000369831.2_START_CODON_SNP_p.M1I/GSTM2_ENST00000442650.1_START_CODON_SNP_p.M1I/GSTM2_ENST00000460717.3_START_CODON_SNP_p.M1I/GSTM2_ENST00000369829.2_START_CODON_SNP_p.M1I/GSTM2_ENST00000414179.2_FIVE_PRIME_UTR/GSTM2_ENST00000369827.3_FIVE_PRIME_UTR/GSTM2_ENST00000464206.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110255320 var_1_110255320 T C . PASS FUNCOTATION=[GSTM5|hg19|chr1|110255320|110255320|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110255320T>C|ENST00000369813.1|+|2|||||0.628428927680798|GGGACGGTAATGGCACCCTCG|GSTM5_ENST00000256593.3_INTRON/GSTM5_ENST00000369812.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GSTM5:2949|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|868017653|110255320|false|false|0|false|0|false||false|false|false|SNV|false|0x0500000a0005000402000100|1|false|147|rs868017653] +chr1 110255320 var_1_110255320 T C . PASS FUNCOTATION=[GSTM5|hg19|chr1|110255320|110255320|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110255320T>C|ENST00000369813.1|+|2|||||0.628428927680798|GGGACGGTAATGGCACCCTCG|GSTM5_ENST00000256593.3_INTRON/GSTM5_ENST00000369812.5_INTRON/GSTM5_ENST00000492718.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GSTM5:2949|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|868017653|110255320|false|false|0|false|0|false||false|false|false|SNV|false|0x0500000a0005000402000100|1|false|147|rs868017653] chr1 110282909 exm1692490 T C . PASS FUNCOTATION=[GSTM3|hg19|chr1|110282909|110282909|START_CODON_SNP||SNP|T|T|C|g.chr1:110282909T>C|ENST00000540225.1|-|2|312|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6708229426433915|TCGCACGACATGGTGACGGGC|GSTM3_ENST00000361066.2_START_CODON_SNP_p.M1V/GSTM3_ENST00000256594.3_START_CODON_SNP_p.M1V/RP4-735C1.4_ENST00000431955.1_RNA/GSTM3_ENST00000488824.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|GSTM3:2947|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|202171165|110282909|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs202171165] chr1 110300600 indel.5498 C CCTGCTGGTTTT . PASS FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845] -chr1 110950259 exm82881 T C . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950259|110950259|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110950259T>C|ENST00000602318.1|-|1|||||0.6458852867830424|CACCGACCACTCCGGCTCAGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.E77G/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110950277 exm82883 G A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950277|110950277|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:110950277G>A|ENST00000602318.1|-|1|||||0.6508728179551122|AGAACCCAGCGGCACGGCACG|LAMTOR5_ENST00000256644.4_MISSENSE_p.P71L/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110950295 exm82888 C A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950295|110950295|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:110950295C>A|ENST00000602318.1|-|1|||||0.6458852867830424|ACGTCCTTCTCCACCACAGGC|LAMTOR5_ENST00000256644.4_MISSENSE_p.G65V/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 110950313 exm82890 A G . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950313|110950313|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:110950313A>G|ENST00000602318.1|-|1|||||0.6408977556109726|GGCCTCAGTCACTTGACGCGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.V59A/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110950259 exm82881 T C . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950259|110950259|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:110950259T>C|ENST00000602318.1|-|1|||||0.6458852867830424|CACCGACCACTCCGGCTCAGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.E77G/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110950277 exm82883 G A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950277|110950277|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:110950277G>A|ENST00000602318.1|-|1|||||0.6508728179551122|AGAACCCAGCGGCACGGCACG|LAMTOR5_ENST00000256644.4_MISSENSE_p.P71L/LAMTOR5_ENST00000474861.2_FIVE_PRIME_UTR/LAMTOR5_ENST00000483260.1_FIVE_PRIME_UTR/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110950295 exm82888 C A . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950295|110950295|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:110950295C>A|ENST00000602318.1|-|1|||||0.6458852867830424|ACGTCCTTCTCCACCACAGGC|LAMTOR5_ENST00000256644.4_MISSENSE_p.G65V/LAMTOR5_ENST00000474861.2_FIVE_PRIME_FLANK/LAMTOR5_ENST00000483260.1_FIVE_PRIME_FLANK/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 110950313 exm82890 A G . PASS FUNCOTATION=[LAMTOR5|hg19|chr1|110950313|110950313|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:110950313A>G|ENST00000602318.1|-|1|||||0.6408977556109726|GGCCTCAGTCACTTGACGCGA|LAMTOR5_ENST00000256644.4_MISSENSE_p.V59A/LAMTOR5_ENST00000474861.2_FIVE_PRIME_FLANK/LAMTOR5_ENST00000483260.1_FIVE_PRIME_FLANK/LAMTOR5_ENST00000602858.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590413.1_RNA/LAMTOR5-AS1_ENST00000457535.1_RNA/LAMTOR5-AS1_ENST00000585330.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000587691.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000590826.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000598454.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608067.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608253.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608486.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608499.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000608602.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609244.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609512.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609653.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000609709.1_FIVE_PRIME_FLANK/LAMTOR5-AS1_ENST00000610148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 111148080 rs3887820 C A . PASS FUNCOTATION=[KCNA2|hg19|chr1|111148080|111148080|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:111148080C>A|ENST00000369770.3|-|2|||||0.5386533665835411|TGAGATGCACCAACAGGCAGC|KCNA2_ENST00000485317.1_FIVE_PRIME_UTR/KCNA2_ENST00000316361.4_FIVE_PRIME_UTR/KCNA2_ENST00000440270.1_FIVE_PRIME_UTR/KCNA2_ENST00000525120.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 111415841 rs1494324 G A . PASS FUNCOTATION=[CD53|hg19|chr1|111415841|111415841|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:111415841G>A|ENST00000271324.5|+|1|||||0.4463840399002494|AAATTCTGCCGAAAGGACTGA|CD53_ENST00000429072.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 112042574 exm83930 A G . PASS FUNCOTATION=[ADORA3|hg19|chr1|112042574|112042574|NONSTOP||SNP|A|A|G|g.chr1:112042574A>G|ENST00000241356.4|-|2|1361|c.955T>C|c.(955-957)Tag>Cag|p.*319Q|0.4538653366583541|ATGGATAACTACTCAGAATTC|ADORA3_ENST00000369716.4_INTRON/ADORA3_ENST00000369717.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1312,24 +1312,24 @@ chr1 113010195 exm84380 T G . PASS FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010 chr1 113248791 rs12144044 C A . PASS FUNCOTATION=[RHOC|hg19|chr1|113248791|113248791|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:113248791C>A|ENST00000285735.2|-|2|||||0.5760598503740648|GACAGTGTGGCTACATCAGAC|RHOC_ENST00000339083.7_INTRON/RHOC_ENST00000369642.3_INTRON/RHOC_ENST00000369633.2_INTRON/RHOC_ENST00000369638.2_INTRON/RHOC_ENST00000369632.2_INTRON/RHOC_ENST00000369637.1_INTRON/RP11-426L16.10_ENST00000606505.1_INTRON/RHOC_ENST00000369636.2_INTRON/RP11-426L16.10_ENST00000471038.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 113498070 kgp6470243 G C . PASS FUNCOTATION=[SLC16A1|hg19|chr1|113498070|113498070|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:113498070G>C|ENST00000538576.1|-|1|||||0.5785536159600998|GGGCTGCCCCGTCCCCTCCGC|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 113498283 kgp2705500 A C . PASS FUNCOTATION=[SLC16A1|hg19|chr1|113498283|113498283|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:113498283A>C|ENST00000538576.1|-|1|||||0.6109725685785536|TACCACATGCAGCAGCCTCAT|SLC16A1_ENST00000369626.3_INTRON/SLC16A1_ENST00000433570.4_FIVE_PRIME_UTR/SLC16A1_ENST00000478835.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397] -chr1 116384580 rs2797208 C T . PASS FUNCOTATION=[NHLH2|hg19|chr1|116384580|116384580|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116384580C>T|ENST00000369506.1|-|1|||||0.3341645885286783|ACCAGTGTGTCCCAGTACATA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 116916056 seq_chr1_116916056 C T . PASS FUNCOTATION=[ATP1A1|hg19|chr1|116916056|116916056|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116916056C>T|ENST00000295598.5|+|1|||||0.7630922693266833|CCCGCTCGCTCGGCCGGGAGC|AL136376.1_ENST00000598661.1_MISSENSE_p.R59Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397] +chr1 116384580 rs2797208 C T . PASS FUNCOTATION=[NHLH2|hg19|chr1|116384580|116384580|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116384580C>T|ENST00000369506.1|-|1|||||0.3341645885286783|ACCAGTGTGTCCCAGTACATA|NHLH2_ENST00000320238.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 116916056 seq_chr1_116916056 C T . PASS FUNCOTATION=[ATP1A1|hg19|chr1|116916056|116916056|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:116916056C>T|ENST00000295598.5|+|1|||||0.7630922693266833|CCCGCTCGCTCGGCCGGGAGC|AL136376.1_ENST00000598661.1_MISSENSE_p.R59Q/ATP1A1_ENST00000537345.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 120307172 indel.6031 A ATTGGCCTCCAGGGCCA . PASS FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 144816621 exm89960 A G . PASS FUNCOTATION=[NBPF9|hg19|chr1|144816621|144816621|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:144816621A>G|ENST00000281815.8|+|5|||||0.4314214463840399|AGTCGACTCAACTCTCATTGG|NBPF9_ENST00000440491.2_MISSENSE_p.T252A/NBPF9_ENST00000338347.4_MISSENSE_p.T252A/NBPF9_ENST00000468645.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 146696658 indel.6227 CCTA C . PASS FUNCOTATION=[FMO5|hg19|chr1|146696659|146696661|FIVE_PRIME_UTR||DEL|CTA|CTA|-|g.chr1:146696659_146696661delCTA|ENST00000254090.4|-|2|||||0.49627791563275436|GTCGCCTGTCCTAAAGAAAGGAT|FMO5_ENST00000369272.3_FIVE_PRIME_UTR/FMO5_ENST00000441068.2_FIVE_PRIME_UTR/RP11-337C18.10_ENST00000606856.1_RNA/FMO5_ENST00000465173.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 147013362 rs10900376 A G . PASS FUNCOTATION=[BCL9|hg19|chr1|147013362|147013362|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:147013362A>G|ENST00000234739.3|+|1|||||0.5087281795511222|CAGGGATTGCAGGAAAAGGGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 148011761 indel.6269 T TGA . PASS FUNCOTATION=[NBPF14|hg19|chr1|148011761|148011762|FRAME_SHIFT_INS||INS|-|-|GA|g.chr1:148011761_148011762insGA|ENST00000369219.1|-|13|1501|c.1483_1484insTC|c.(1483-1485)aaafs|p.K495fs|0.44|CCCCTTCTTTTCTTCCCCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 150039678 rs2027349 G A . PASS FUNCOTATION=[VPS45|hg19|chr1|150039678|150039678|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150039678G>A|ENST00000369130.3|+|1|||||0.6209476309226932|GTGGAGAATAGCGCCCGCGCG|VPS45_ENST00000369128.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 150039678 rs2027349 G A . PASS FUNCOTATION=[VPS45|hg19|chr1|150039678|150039678|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150039678G>A|ENST00000369130.3|+|1|||||0.6209476309226932|GTGGAGAATAGCGCCCGCGCG|VPS45_ENST00000369128.5_INTRON/VPS45_ENST00000535106.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 150955582 exm95494 A G . PASS FUNCOTATION=[ANXA9|hg19|chr1|150955582|150955582|START_CODON_SNP||SNP|A|A|G|g.chr1:150955582A>G|ENST00000368947.4|+|3|477|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5685785536159601|CAGTAGCACCATGTCTGTGAC|ANXA9_ENST00000474997.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 150975108 exm95619 T C . PASS FUNCOTATION=[FAM63A|hg19|chr1|150975108|150975108|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:150975108T>C|ENST00000361936.5|-|3|||||0.5211970074812967|AAAAGGGACTTGGCTGAGGGG|FAM63A_ENST00000361738.6_MISSENSE_p.K44E/FAM63A_ENST00000312210.5_INTRON/FAM63A_ENST00000493834.2_INTRON/FAM63A_ENST00000470877.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 150975123 var_1_150975123 G A . PASS FUNCOTATION=[FAM63A|hg19|chr1|150975123|150975123|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:150975123G>A|ENST00000361936.5|-|3|||||0.516209476309227|GAGGGGCACTGAAGGTGTTTA|FAM63A_ENST00000361738.6_NONSENSE_p.Q39*/FAM63A_ENST00000312210.5_INTRON/FAM63A_ENST00000493834.2_INTRON/FAM63A_ENST00000470877.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 151138250 exm96069 G T . PASS FUNCOTATION=[LYSMD1|hg19|chr1|151138250|151138250|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:151138250G>T|ENST00000368908.5|-|1|||||0.5511221945137157|TCAAAGGTCCGCTCCGCATAA|LYSMD1_ENST00000440902.2_MISSENSE_p.S3R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 151138250 exm96069 G T . PASS FUNCOTATION=[LYSMD1|hg19|chr1|151138250|151138250|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:151138250G>T|ENST00000368908.5|-|1|||||0.5511221945137157|TCAAAGGTCCGCTCCGCATAA|LYSMD1_ENST00000440902.2_MISSENSE_p.S3R/SCNM1_ENST00000368905.4_FIVE_PRIME_FLANK/SCNM1_ENST00000461862.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 151372047 rs2296840 C T . PASS FUNCOTATION=[PSMB4|hg19|chr1|151372047|151372047|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151372047C>T|ENST00000290541.6|+|1|||||0.5486284289276808|TTCATTTTTTCTGCTACCGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 151372065 exm1714112 T C . PASS FUNCOTATION=[PSMB4|hg19|chr1|151372065|151372065|START_CODON_SNP||SNP|T|T|C|g.chr1:151372065T>C|ENST00000290541.6|+|1|56|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5610972568578554|GTGACTAAGATGGAAGCGTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 151739221 indel.6571 CT C . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739222|151739222|FIVE_PRIME_UTR||DEL|T|T|-|g.chr1:151739222delT|ENST00000479764.1|+|1|||||0.456359102244389|GTGTCGCCCCTCTGTCTACTC|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|751011390|151739222|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs751011390] chr1 151739333 exm97447 C T . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739333|151739333|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:151739333C>T|ENST00000479764.1|+|1|||||0.4239401496259352|GATCACTCTCCGGGAGAAGAT|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_INTRON/RP11-98D18.16_ENST00000596133.1_RNA/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|188726350|151739333|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000080a05040416000100|1|false|135|rs188726350] -chr1 151739679 exm97451 C A . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739679|151739679|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:151739679C>A|ENST00000479764.1|+|2|||||0.48877805486284287|ACTCCAGCCCCGTTCCTGCCT|OAZ3_ENST00000453029.2_MISSENSE_p.R38S/OAZ3_ENST00000321531.5_MISSENSE_p.R25S/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_MISSENSE_p.R25S/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|false|false|false|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|201902593|151739679|false|false|0|false|0|false|0.999931_%2C_3.4343e-005_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000104|1|false|137|rs201902593] +chr1 151739679 exm97451 C A . PASS FUNCOTATION=[OAZ3|hg19|chr1|151739679|151739679|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:151739679C>A|ENST00000479764.1|+|2|||||0.48877805486284287|ACTCCAGCCCCGTTCCTGCCT|OAZ3_ENST00000453029.2_MISSENSE_p.R38S/OAZ3_ENST00000321531.5_MISSENSE_p.R25S/OAZ3_ENST00000400999.1_FIVE_PRIME_UTR/OAZ3_ENST00000315067.8_MISSENSE_p.R25S/RP11-98D18.3_ENST00000512280.1_RNA/OAZ3_ENST00000577465.1_INTRON/RP11-98D18.16_ENST00000596133.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|OAZ3:51686|false|true|false|false|false|false|false|false|false|true|false|true|false|false|false|false|false|false|false|true|201902593|151739679|false|false|0|false|0|false|0.999931_%2C_3.4343e-005_%2C_._%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000104|1|false|137|rs201902593] chr1 152275177 exm2249939 T C . PASS FUNCOTATION=[FLG|hg19|chr1|152275177|152275177|SILENT||SNP|T|T|C|g.chr1:152275177T>C|ENST00000368799.1|-|3|12221|c.12185A>G|c.(12184-12186)tAa>tGa|p.*4062*|0.32169576059850374|ATTAATTTCTTACTCATAGTA|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FLG:2312|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|139645876|152275177|false|false|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000305040402000100|1|false|134|rs139645876] chr1 152323087 exm100586 C G . PASS FUNCOTATION=[FLG2|hg19|chr1|152323087|152323087|NONSTOP||SNP|C|C|G|g.chr1:152323087C>G|ENST00000388718.5|-|3|7248|c.7175G>C|c.(7174-7176)tGa>tCa|p.*2392S|0.3940149625935162|AAATAACTGTCAATGTCTAGA|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.997_%2C_0.002995|false|false|1||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|150529054|152323087|false|false|0|false|0|false|0.997321_%2C_0.00267876|false|false|false|SNV|true|0x050000080205040436000100|1|false|134|rs150529054] chr1 152324500 indel.6754 G GC . PASS FUNCOTATION=[FLG2|hg19|chr1|152324500|152324501|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:152324500_152324501insC|ENST00000388718.5|-|3|5835|c.5761_5762insG|c.(5761-5763)actfs|p.T1921fs|0.5175|CCATGAGTAGTTTGGTGTCT|FLG-AS1_ENST00000392688.2_RNA/FLG-AS1_ENST00000445097.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FLG2:388698_%7C_FLG-AS1:339400|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|760715355|152324500|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040402000200|1|false|144|rs760715355] @@ -1339,29 +1339,29 @@ chr1 153122367 exm101949 A G . PASS FUNCOTATION=[SPRR2G|hg19|chr1|153122367|1531 chr1 153177184 exm101965 A G . PASS FUNCOTATION=[LELP1|hg19|chr1|153177184|153177184|START_CODON_SNP||SNP|A|A|G|g.chr1:153177184A>G|ENST00000368747.1|+|2|111|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46384039900249374|TCAAGAAACAATGTCGAGTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 153390542 exm102219 G C . PASS FUNCOTATION=[S100A7A|hg19|chr1|153390542|153390542|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:153390542G>C|ENST00000368729.4|+|2|||||0.4538653366583541|TTTCCTGAAGGCTTTTTGAAA|S100A7A_ENST00000329256.2_FIVE_PRIME_UTR/S100A7A_ENST00000368728.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 153431505 exm1715554 G T . PASS FUNCOTATION=[S100A7|hg19|chr1|153431505|153431505|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:153431505G>T|ENST00000368723.3|-|2|||||0.4339152119700748|CTTTCAAAAAGCCTTCAGGAA|S100A7_ENST00000368722.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 153514241 exm2231338 A C . PASS FUNCOTATION=[S100A5|hg19|chr1|153514241|153514241|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:153514241A>C|ENST00000368718.1|-|1|||||0.4912718204488778|GAAGTGTGGGACAAACACAGG|S100A5_ENST00000359215.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 153517519 rs11488669 G A . PASS FUNCOTATION=[S100A4|hg19|chr1|153517519|153517519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153517519G>A|ENST00000368715.1|-|1|||||0.6109725685785536|CTGGAGATTCGGGCAGCAAAC|S100A4_ENST00000368716.4_INTRON/S100A4_ENST00000354332.4_INTRON/S100A4_ENST00000368714.1_INTRON/S100A4_ENST00000481009.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 153514241 exm2231338 A C . PASS FUNCOTATION=[S100A5|hg19|chr1|153514241|153514241|FIVE_PRIME_UTR||SNP|A|A|C|g.chr1:153514241A>C|ENST00000368718.1|-|1|||||0.4912718204488778|GAAGTGTGGGACAAACACAGG|S100A5_ENST00000359215.1_FIVE_PRIME_UTR/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 153517519 rs11488669 G A . PASS FUNCOTATION=[S100A4|hg19|chr1|153517519|153517519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153517519G>A|ENST00000368715.1|-|1|||||0.6109725685785536|CTGGAGATTCGGGCAGCAAAC|S100A4_ENST00000368716.4_INTRON/S100A4_ENST00000354332.4_INTRON/S100A4_ENST00000368714.1_INTRON/S100A5_ENST00000359215.1_FIVE_PRIME_FLANK/S100A5_ENST00000368717.2_FIVE_PRIME_FLANK/S100A5_ENST00000368718.1_FIVE_PRIME_FLANK/S100A4_ENST00000481009.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 153580653 exm1715597 C A . PASS FUNCOTATION=[S100A16|hg19|chr1|153580653|153580653|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:153580653C>A|ENST00000368704.1|-|2|||||0.571072319201995|GCTGGCGGGGCCTGGACACCA|S100A16_ENST00000368706.4_FIVE_PRIME_UTR/S100A16_ENST00000368705.2_FIVE_PRIME_UTR/S100A16_ENST00000368703.2_FIVE_PRIME_UTR/S100A16_ENST00000474991.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 153604519 rs3818632 G A . PASS FUNCOTATION=[S100A13|hg19|chr1|153604519|153604519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153604519G>A|ENST00000368699.1|-|2|||||0.5411471321695761|CCAGCCATCCGATGTCTGTCT|RP1-178F15.4_ENST00000469931.2_RNA/RP1-178F15.5_ENST00000497086.1_RNA/RP1-178F15.4_ENST00000607839.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 153604519 rs3818632 G A . PASS FUNCOTATION=[S100A13|hg19|chr1|153604519|153604519|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153604519G>A|ENST00000368699.1|-|2|||||0.5411471321695761|CCAGCCATCCGATGTCTGTCT|S100A13_ENST00000339556.4_FIVE_PRIME_FLANK/S100A13_ENST00000392622.1_FIVE_PRIME_FLANK/S100A13_ENST00000392623.1_FIVE_PRIME_FLANK/S100A13_ENST00000440685.2_FIVE_PRIME_FLANK/S100A13_ENST00000491177.1_FIVE_PRIME_FLANK/RP1-178F15.4_ENST00000469931.2_RNA/RP1-178F15.5_ENST00000497086.1_RNA/RP1-178F15.4_ENST00000607839.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 153752478 exm103036 A G . PASS FUNCOTATION=[SLC27A3|hg19|chr1|153752478|153752478|NONSTOP||SNP|A|A|G|g.chr1:153752478A>G|ENST00000271857.2|+|10|3196|c.2436A>G|c.(2434-2436)tgA>tgG|p.*812W|0.5386533665835411|TTCGAATCTGAGAACTTCCAC|SLC27A3_ENST00000368661.3_NONSTOP_p.*731W/SLC27A3_ENST00000484014.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 153935543 rs2072704 G A . PASS FUNCOTATION=[SLC39A1|hg19|chr1|153935543|153935543|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:153935543G>A|ENST00000368623.3|-|1|||||0.5511221945137157|ACCTGGAGCTGGAGTTCCCCT|SLC39A1_ENST00000368621.1_FIVE_PRIME_UTR/SLC39A1_ENST00000310483.6_INTRON/SLC39A1_ENST00000356205.4_INTRON/SLC39A1_ENST00000537590.1_INTRON/SLC39A1_ENST00000461071.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 153963239 exm103541 C T . PASS FUNCOTATION=[RPS27|hg19|chr1|153963239|153963239|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:153963239C>T|ENST00000368567.4|+|1|||||0.5336658354114713|GCTTTCGCTCCTTTCCGGCGG|RPS27_ENST00000392558.4_FIVE_PRIME_UTR/RPS27_ENST00000493224.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 154245142 rs11265425 T G . PASS FUNCOTATION=[HAX1|hg19|chr1|154245142|154245142|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:154245142T>G|ENST00000328703.7|+|1|||||0.5660847880299252|TGCGCAGGTTTCCCCCGTCTG|HAX1_ENST00000483970.2_FIVE_PRIME_UTR/HAX1_ENST00000457918.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 154956373 exm105089 A G . PASS FUNCOTATION=[FLAD1|hg19|chr1|154956373|154956373|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:154956373A>G|ENST00000315144.10|+|2|||||0.5910224438902744|TGCCCTGTAGACCTGGCAGGC|FLAD1_ENST00000368433.1_MISSENSE_p.D68G/FLAD1_ENST00000292180.3_MISSENSE_p.D68G/FLAD1_ENST00000368432.1_FIVE_PRIME_UTR/FLAD1_ENST00000368431.3_FIVE_PRIME_UTR/FLAD1_ENST00000487371.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 155214473 rs12034326 A G . PASS FUNCOTATION=[GBA|hg19|chr1|155214473|155214473|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:155214473A>G|ENST00000428024.3|-|1|||||0.6159600997506235|TCGGGGCGGGACCTGGATTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 157670278 exm111816 A T . PASS FUNCOTATION=[FCRL3|hg19|chr1|157670278|157670278|START_CODON_SNP||SNP|A|A|T|g.chr1:157670278A>T|ENST00000368184.3|-|2|294|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5037406483790524|CCACAGAAGCATGGGCACCGG|FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 154245142 rs11265425 T G . PASS FUNCOTATION=[HAX1|hg19|chr1|154245142|154245142|FIVE_PRIME_UTR||SNP|T|T|G|g.chr1:154245142T>G|ENST00000328703.7|+|1|||||0.5660847880299252|TGCGCAGGTTTCCCCCGTCTG|HAX1_ENST00000483970.2_FIVE_PRIME_UTR/HAX1_ENST00000457918.2_FIVE_PRIME_UTR/HAX1_ENST00000532105.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 154956373 exm105089 A G . PASS FUNCOTATION=[FLAD1|hg19|chr1|154956373|154956373|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:154956373A>G|ENST00000315144.10|+|2|||||0.5910224438902744|TGCCCTGTAGACCTGGCAGGC|FLAD1_ENST00000368433.1_MISSENSE_p.D68G/FLAD1_ENST00000292180.3_MISSENSE_p.D68G/FLAD1_ENST00000368432.1_FIVE_PRIME_UTR/FLAD1_ENST00000368431.3_FIVE_PRIME_UTR/FLAD1_ENST00000295530.2_FIVE_PRIME_FLANK/FLAD1_ENST00000368428.1_FIVE_PRIME_FLANK/FLAD1_ENST00000405236.2_FIVE_PRIME_FLANK/FLAD1_ENST00000487371.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 155214473 rs12034326 A G . PASS FUNCOTATION=[GBA|hg19|chr1|155214473|155214473|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:155214473A>G|ENST00000428024.3|-|1|||||0.6159600997506235|TCGGGGCGGGACCTGGATTGG|GBA_ENST00000327247.5_FIVE_PRIME_FLANK/GBA_ENST00000368373.3_FIVE_PRIME_FLANK/GBA_ENST00000427500.3_FIVE_PRIME_FLANK/GBA_ENST00000493842.1_FIVE_PRIME_FLANK/GBA_ENST00000536770.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 157670278 exm111816 A T . PASS FUNCOTATION=[FCRL3|hg19|chr1|157670278|157670278|START_CODON_SNP||SNP|A|A|T|g.chr1:157670278A>T|ENST00000368184.3|-|2|294|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5037406483790524|CCACAGAAGCATGGGCACCGG|FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K/FCRL3_ENST00000473231.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 157716528 exm111824 A G . PASS FUNCOTATION=[FCRL2|hg19|chr1|157716528|157716528|NONSTOP||SNP|A|A|G|g.chr1:157716528A>G|ENST00000361516.3|-|12|1574|c.1525T>C|c.(1525-1527)Taa>Caa|p.*509Q|0.4139650872817955|TCCAAGTGTTATGATTTCTTC|FCRL2_ENST00000368181.4_NONSTOP_p.*203Q/FCRL2_ENST00000392274.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 158323779 exm112427 A G . PASS FUNCOTATION=[CD1E|hg19|chr1|158323779|158323779|START_CODON_SNP||SNP|A|A|G|g.chr1:158323779A>G|ENST00000368167.3|+|1|240|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5361596009975063|CAGAGCTTCAATGCTGCTCCT|CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V/CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V/CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V/CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V/CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V/CD1E_ENST00000434258.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 158323779 exm112427 A G . PASS FUNCOTATION=[CD1E|hg19|chr1|158323779|158323779|START_CODON_SNP||SNP|A|A|G|g.chr1:158323779A>G|ENST00000368167.3|+|1|240|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5361596009975063|CAGAGCTTCAATGCTGCTCCT|CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V/CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V/CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V/CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V/CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V/CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V/CD1E_ENST00000434258.1_INTRON/CD1E_ENST00000464822.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 158576993 indel.7654 T TC . PASS FUNCOTATION=[OR10Z1|hg19|chr1|158576993|158576994|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:158576993_158576994insC|ENST00000361284.1|+|1|765|c.765_766insC|c.(766-768)tccfs|p.S256fs|0.4875|TGGCTGTGCTTCCTTCGTGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 158815534 indel.7712 A AAC . PASS FUNCOTATION=[MNDA|hg19|chr1|158815534|158815535|FRAME_SHIFT_INS||INS|-|-|AC|g.chr1:158815534_158815535insAC|ENST00000368141.4|+|5|989|c.728_729insAC|c.(727-729)aagfs|p.T244fs|0.395|TGGCCAGTAAGACTCAATAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 159032484 exm113976 A C . PASS FUNCOTATION=[AIM2|hg19|chr1|159032484|159032484|NONSTOP||SNP|A|A|C|g.chr1:159032484A>C|ENST00000368130.4|-|6|1319|c.1030T>G|c.(1030-1032)Tag>Gag|p.*344E|0.38154613466334164|TTACTTCTCTATGTTTTTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 159796689 exm114535 A T . PASS FUNCOTATION=[SLAMF8|hg19|chr1|159796689|159796689|START_CODON_SNP||SNP|A|A|T|g.chr1:159796689A>T|ENST00000289707.5|+|1|150|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.5536159600997507|CCAGAGAAAGATGGTCATGAG|SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 159796689 exm114535 A T . PASS FUNCOTATION=[SLAMF8|hg19|chr1|159796689|159796689|START_CODON_SNP||SNP|A|A|T|g.chr1:159796689A>T|ENST00000289707.5|+|1|150|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.5536159600997507|CCAGAGAAAGATGGTCATGAG|SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L/SLAMF8_ENST00000471286.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 160797604 exm116520 T G . PASS FUNCOTATION=[LY9|hg19|chr1|160797604|160797604|NONSTOP||SNP|T|T|G|g.chr1:160797604T>G|ENST00000263285.6|+|10|1996|c.1966T>G|c.(1966-1968)Tga>Gga|p.*656G|0.5087281795511222|AAATTTCACCTGAAAGGAAAA|LY9_ENST00000368037.5_NONSTOP_p.*642G/LY9_ENST00000392203.4_NONSTOP_p.*566G/LY9_ENST00000368040.1_NONSTOP_p.*271G/LY9_ENST00000368041.2_NONSTOP_p.*527G/LY9_ENST00000341032.4_NONSTOP_p.*522G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 161677004 exm118314 A T . PASS FUNCOTATION=[FCRLA|hg19|chr1|161677004|161677004|START_CODON_SNP||SNP|A|A|T|g.chr1:161677004A>T|ENST00000236938.6|+|1|243|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4488778054862843|GAGAGGTTTCATGTTGAAGAA|FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L/FCRLA_ENST00000540926.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 161677004 exm118314 A T . PASS FUNCOTATION=[FCRLA|hg19|chr1|161677004|161677004|START_CODON_SNP||SNP|A|A|T|g.chr1:161677004A>T|ENST00000236938.6|+|1|243|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.4488778054862843|GAGAGGTTTCATGTTGAAGAA|FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L/FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L/FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L/FCRLA_ENST00000540926.1_FIVE_PRIME_UTR/FCRLA_ENST00000294796.4_FIVE_PRIME_FLANK/FCRLA_ENST00000309691.6_FIVE_PRIME_FLANK/FCRLA_ENST00000349527.4_FIVE_PRIME_FLANK/FCRLA_ENST00000367950.1_FIVE_PRIME_FLANK/FCRLA_ENST00000367953.3_FIVE_PRIME_FLANK/FCRLA_ENST00000470841.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 161697451 exm118460 G C . PASS FUNCOTATION=[FCRLB|hg19|chr1|161697451|161697451|NONSTOP||SNP|G|G|C|g.chr1:161697451G>C|ENST00000367948.2|+|8|1495|c.1280G>C|c.(1279-1281)tGa>tCa|p.*427S|0.5635910224438903|GTGGAGAGCTGAGGGGGCGGC|FCRLB_ENST00000336830.5_THREE_PRIME_UTR/FCRLB_ENST00000367944.3_THREE_PRIME_UTR/FCRLB_ENST00000367946.3_THREE_PRIME_UTR/FCRLB_ENST00000367945.1_THREE_PRIME_UTR/FCRLB_ENST00000392158.1_NONSTOP_p.*427S/FCRLB_ENST00000495397.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 165619079 exm119609 C T . PASS FUNCOTATION=[MGST3|hg19|chr1|165619079|165619079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:165619079C>T|ENST00000367889.3|+|2|||||0.44389027431421446|CTTCCACAGACGCAAGATGGC|MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME/MGST3_ENST00000367883.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367885.1_SPLICE_SITE_p.R13C/MGST3_ENST00000367886.2_SPLICE_SITE_p.R13C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 165667795 exm119723 T G . PASS FUNCOTATION=[ALDH9A1|hg19|chr1|165667795|165667795|START_CODON_SNP||SNP|T|T|G|g.chr1:165667795T>G|ENST00000354775.4|-|1|306|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6957605985037406|CGGAGAAACATGAGTGGCGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797] +chr1 165667795 exm119723 T G . PASS FUNCOTATION=[ALDH9A1|hg19|chr1|165667795|165667795|START_CODON_SNP||SNP|T|T|G|g.chr1:165667795T>G|ENST00000354775.4|-|1|306|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6957605985037406|CGGAGAAACATGAGTGGCGGA|ALDH9A1_ENST00000461664.1_FIVE_PRIME_FLANK/ALDH9A1_ENST00000538148.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797] chr1 171178090 exm123207 T C . PASS FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174] chr1 171178090 rs6661174 T C . PASS FUNCOTATION=[FMO2|hg19|chr1|171178090|171178090|NONSTOP||SNP|T|T|C|g.chr1:171178090T>C|ENST00000209929.7|+|9|1572|c.1414T>C|c.(1414-1416)Tag>Cag|p.*472Q|0.456359102244389|CAACTCCTATTAGTATCGCCT|FMO2_ENST00000441535.1_NONSTOP_p.*472Q/RP1-127D3.4_ENST00000422841.1_RNA/RP1-127D3.4_ENST00000445909.1_RNA/RP1-127D3.4_ENST00000445290.1_RNA/FMO2_ENST00000529935.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9537_%2C_0.04633|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|true|true|false|false|true|6661174|171178090|false|false|0|true|0|false||false|true|false|SNV|true|0x05012880060515053f000100|1|false|116|rs6661174] chr1 175046557 exm125033 G T . PASS FUNCOTATION=[TNN|hg19|chr1|175046557|175046557|START_CODON_SNP||SNP|G|G|T|g.chr1:175046557G>T|ENST00000239462.4|+|2|116|c.3G>T|c.(1-3)atG>atT|p.M1I|0.5336658354114713|TTCCAAGGATGAGTCTCCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1371,8 +1371,8 @@ chr1 182555939 newrs74315365 C T . PASS FUNCOTATION=[RNASEL|hg19|chr1|182555939| chr1 196670459 exm133400 T C . PASS FUNCOTATION=[CFH|hg19|chr1|196670459|196670459|NONSTOP||SNP|T|T|C|g.chr1:196670459T>C|ENST00000359637.2|+|9|1218|c.1156T>C|c.(1156-1158)Tga>Cga|p.*386R|0.44389027431421446|CTTTACCCTCTGAACTTCTGA|CFH_ENST00000367429.4_INTRON/CFH_ENST00000439155.2_NONSTOP_p.*450R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 197057491 indel.9105 T TCC . PASS FUNCOTATION=[ASPM|hg19|chr1|197057491|197057492|FRAME_SHIFT_INS||INS|-|-|CC|g.chr1:197057491_197057492insCC|ENST00000367409.4|-|26|10313|c.10055_10056insGG|c.(10054-10056)atafs|p.I3352fs|0.3175|TTCTCGGTATATCTGCAAAA|ASPM_ENST00000367408.1_FRAME_SHIFT_INS_p.I1017fs/ASPM_ENST00000294732.7_FRAME_SHIFT_INS_p.I1767fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 207700162 indel.9720 A AAGAT . PASS FUNCOTATION=[CR1|hg19|chr1|207700162|207700163|FRAME_SHIFT_INS||INS|-|-|AGAT|g.chr1:207700162_207700163insAGAT|ENST00000367049.4|+|6|951|c.951_952insAGAT|c.(952-954)cctfs|p.P318fs|0.445|CAACTTTTCACCTGGGCAGG|CR1_ENST00000367052.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367053.1_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000400960.2_FRAME_SHIFT_INS_p.P318fs/CR1_ENST00000367051.1_INTRON/CR1_ENST00000367050.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 209849340 exm145908 A G . PASS FUNCOTATION=[G0S2|hg19|chr1|209849340|209849340|NONSTOP||SNP|A|A|G|g.chr1:209849340A>G|ENST00000367029.4|+|2|473|c.311A>G|c.(310-312)tAg>tGg|p.*104W|0.6309226932668329|CACGCCTCCTAGGAACTGTGG|RP1-28O10.1_ENST00000441672.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341] +chr1 209849340 exm145908 A G . PASS FUNCOTATION=[G0S2|hg19|chr1|209849340|209849340|NONSTOP||SNP|A|A|G|g.chr1:209849340A>G|ENST00000367029.4|+|2|473|c.311A>G|c.(310-312)tAg>tGg|p.*104W|0.6309226932668329|CACGCCTCCTAGGAACTGTGG|RP1-28O10.1_ENST00000441672.1_RNA/RP1-28O10.1_ENST00000445272.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341] chr1 217804722 exm149634 T C . PASS FUNCOTATION=[SPATA17|hg19|chr1|217804722|217804722|START_CODON_SNP||SNP|T|T|C|g.chr1:217804722T>C|ENST00000366933.4|+|1|57|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.43640897755610975|CAAGAGACCATGGCCACGTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 225586971 exm152734 A T . PASS FUNCOTATION=[DNAH14|hg19|chr1|225586971|225586971|NONSTOP||SNP|A|A|T|g.chr1:225586971A>T|ENST00000445597.2|+|61|10524|c.10524A>T|c.(10522-10524)taA>taT|p.*3508Y|0.3790523690773067|ATGAAAAATAAATGTCCATAT|DNAH14_ENST00000439375.2_NONSTOP_p.*4516Y/DNAH14_ENST00000430092.1_NONSTOP_p.*4516Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 228295961 exm154986 T G . PASS FUNCOTATION=[MRPL55|hg19|chr1|228295961|228295961|START_CODON_SNP||SNP|T|T|G|g.chr1:228295961T>G|ENST00000411464.2|-|3|795|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5536159600997507|ACGGCCGCCATTCCTCCTTAC|MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L/MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L/MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L/MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L/MRPL55_ENST00000465397.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|140581823|228295961|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs140581823] @@ -1388,9 +1388,9 @@ chr1 248366370 exm167630 A G . PASS FUNCOTATION=[OR2M3|hg19|chr1|248366370|24836 chr1 248367306 exm167691 T A . PASS FUNCOTATION=[OR2M3|hg19|chr1|248367306|248367306|NONSTOP||SNP|T|T|A|g.chr1:248367306T>A|ENST00000456743.1|+|1|975|c.937T>A|c.(937-939)Tga>Aga|p.*313R|0.38403990024937656|GTCTGGAGAGTGAGTTACCTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 248801588 exm168726 C T . PASS FUNCOTATION=[OR2T35|hg19|chr1|248801588|248801588|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:248801588C>T|ENST00000317450.3|-|1|972|c.972G>A|c.(970-972)taG>taA|p.*324*|0.516209476309227|GGAGTCCCTGCTAGCCCTTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr10 5144336 indel.11443 T TA . PASS FUNCOTATION=[AKR1C3|hg19|chr10|5144336|5144337|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5144336_5144337insA|ENST00000380554.3|+|6|1266|c.614_615insA|c.(613-615)ttcfs|p.F205fs|0.34|TGCTAGATTTCTGCAAGTCG|AKR1C3_ENST00000605149.1_FRAME_SHIFT_INS_p.F182fs/AKR1C3_ENST00000439082.2_FRAME_SHIFT_INS_p.F86fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr10 5204954 indel.11449 G GA . PASS FUNCOTATION=[AKR1CL1|hg19|chr10|5204954|5204955|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5204954_5204955insA|ENST00000334314.3|-|2|200|c.122_123insT|c.(121-123)accfs|p.K42fs|0.445|AGCCACTTTGGTGGCCTCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr10 5204954 indel.11449 G GA . PASS FUNCOTATION=[AKR1CL1|hg19|chr10|5204954|5204955|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:5204954_5204955insA|ENST00000334314.3|-|2|200|c.122_123insT|c.(121-123)accfs|p.K42fs|0.445|AGCCACTTTGGTGGCCTCGG|AKR1CL1_ENST00000465430.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr10 14867578 exm810770 G C . PASS FUNCOTATION=[CDNF|hg19|chr10|14867578|14867578|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr10:14867578G>C|ENST00000378442.1|-|5|||||0.4389027431421446|CTTCACTTAGGATCTTTGTGG|CDNF_ENST00000378441.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr10 35426755 rs17499247 A G . PASS FUNCOTATION=[CREM|hg19|chr10|35426755|35426755|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr10:35426755A>G|ENST00000345491.3|+|2|||||0.26683291770573564|GATTACAAATATCTTAACAAT|CREM_ENST00000374721.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000354759.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000429130.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000460270.1_INTRON/CREM_ENST00000374726.3_INTRON/CREM_ENST00000474362.1_INTRON/CREM_ENST00000489321.1_INTRON/CREM_ENST00000469949.2_INTRON/CREM_ENST00000395895.2_DE_NOVO_START_OUT_FRAME/CREM_ENST00000333809.8_DE_NOVO_START_OUT_FRAME/CREM_ENST00000439705.1_DE_NOVO_START_OUT_FRAME/CREM_ENST00000374728.3_INTRON/CREM_ENST00000489388.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr10 35426755 rs17499247 A G . PASS FUNCOTATION=[CREM|hg19|chr10|35426755|35426755|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr10:35426755A>G|ENST00000345491.3|+|2|||||0.26683291770573564|GATTACAAATATCTTAACAAT|CREM_ENST00000374721.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000354759.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000429130.3_DE_NOVO_START_OUT_FRAME/CREM_ENST00000460270.1_INTRON/CREM_ENST00000374726.3_INTRON/CREM_ENST00000474362.1_INTRON/CREM_ENST00000489321.1_INTRON/CREM_ENST00000469949.2_INTRON/CREM_ENST00000395895.2_DE_NOVO_START_OUT_FRAME/CREM_ENST00000333809.8_DE_NOVO_START_OUT_FRAME/CREM_ENST00000439705.1_DE_NOVO_START_OUT_FRAME/CREM_ENST00000374728.3_INTRON/CREM_ENST00000337656.4_FIVE_PRIME_FLANK/CREM_ENST00000374734.3_FIVE_PRIME_FLANK/CREM_ENST00000479070.1_FIVE_PRIME_FLANK/CREM_ENST00000489388.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr10 38344447 indel.12316 T TA . PASS FUNCOTATION=[ZNF33A|hg19|chr10|38344447|38344448|FRAME_SHIFT_INS||INS|-|-|A|g.chr10:38344447_38344448insA|ENST00000374618.3|+|5|1573|c.1395_1396insA|c.(1396-1398)gagfs|p.E466fs|0.4025|TCACACAGGTGAGAAACCTT|ZNF33A_ENST00000458705.2_FRAME_SHIFT_INS_p.E465fs/ZNF33A_ENST00000469037.2_INTRON/ZNF33A_ENST00000432900.2_FRAME_SHIFT_INS_p.E472fs/ZNF33A_ENST00000307441.9_FRAME_SHIFT_INS_p.E465fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr10 55955567 exm825941 T C . PASS FUNCOTATION=[PCDH15|hg19|chr10|55955567|55955567|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr10:55955567T>C|ENST00000409834.1|-|3|||||0.34663341645885287|CATTGTAAAATATGGACTTTG|PCDH15_ENST00000373965.2_MISSENSE_p.Y394C/PCDH15_ENST00000361849.3_MISSENSE_p.Y394C/PCDH15_ENST00000395433.1_MISSENSE_p.Y372C/PCDH15_ENST00000320301.6_MISSENSE_p.Y394C/PCDH15_ENST00000395430.1_MISSENSE_p.Y394C/PCDH15_ENST00000395438.1_MISSENSE_p.Y394C/PCDH15_ENST00000395445.1_MISSENSE_p.Y394C/PCDH15_ENST00000373955.1_MISSENSE_p.Y394C/PCDH15_ENST00000373957.3_MISSENSE_p.Y372C/PCDH15_ENST00000395446.1_MISSENSE_p.Y394C/PCDH15_ENST00000395440.1_MISSENSE_p.Y394C/PCDH15_ENST00000395442.1_INTRON/PCDH15_ENST00000414778.1_MISSENSE_p.Y399C/PCDH15_ENST00000395432.2_MISSENSE_p.Y357C/PCDH15_ENST00000437009.1_MISSENSE_p.Y394C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr10 70182529 indel.12828 A AAG . PASS FUNCOTATION=[DNA2|hg19|chr10|70182529|70182530|FRAME_SHIFT_INS||INS|-|-|AG|g.chr10:70182529_70182530insAG|ENST00000358410.3|-|15|2378|c.2326_2327insCT|c.(2326-2328)cttfs|p.L776fs|0.3525|GAAAAAAAAAGGGGGCCCAG|DNA2_ENST00000399180.2_FRAME_SHIFT_INS_p.L862fs/DNA2_ENST00000399179.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1407,18 +1407,18 @@ chr11 5842447 indel.16325 T TC . PASS FUNCOTATION=[OR52N2|hg19|chr11|5842447|584 chr11 58891938 var_11_58891938 A ACT . PASS FUNCOTATION=[FAM111B|hg19|chr11|58891938|58891939|FRAME_SHIFT_INS||INS|-|-|CT|g.chr11:58891938_58891939insCT|ENST00000343597.3|+|4|559|c.368_369insCT|c.(367-369)aatfs|p.Q124fs|0.3475|GGATAAAGAATCAGTTTAAT|FAM111B_ENST00000529618.1_FRAME_SHIFT_INS_p.Q94fs/FAM111B_ENST00000411426.1_FRAME_SHIFT_INS_p.Q94fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr11 59132518 indel.18341 T TG . PASS FUNCOTATION=[OR5AN1|hg19|chr11|59132518|59132519|FRAME_SHIFT_INS||INS|-|-|G|g.chr11:59132518_59132519insG|ENST00000313940.2|+|1|634|c.587_588insG|c.(586-588)gtafs|p.Q197fs|0.435|CTTTCTTTGTACAGGTCATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr11 62931299 indel.18818 T TC . PASS FUNCOTATION=[SLC22A25|hg19|chr11|62931299|62931300|FRAME_SHIFT_INS||INS|-|-|C|g.chr11:62931299_62931300insC|ENST00000306494.6|-|9|1641|c.1640_1641insG|c.(1639-1641)ctafs|p.*548fs|0.51|ACAGACCTATAGCACAGAGC|SLC22A10_ENST00000535888.1_INTRON/SLC22A10_ENST00000525620.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr11 63953121 rs3751122 G T . PASS FUNCOTATION=[STIP1|hg19|chr11|63953121|63953121|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr11:63953121G>T|ENST00000358794.5|+|1|||||0.6733167082294265|GCAACCCAGAGGCCCCGCAGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr11 63953121 rs3751122 G T . PASS FUNCOTATION=[STIP1|hg19|chr11|63953121|63953121|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr11:63953121G>T|ENST00000358794.5|+|1|||||0.6733167082294265|GCAACCCAGAGGCCCCGCAGC|STIP1_ENST00000305218.4_FIVE_PRIME_FLANK/STIP1_ENST00000538945.1_FIVE_PRIME_FLANK/STIP1_ENST00000540501.1_FIVE_PRIME_FLANK/STIP1_ENST00000543847.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr11 75694488 exm942121 C T . PASS FUNCOTATION=[UVRAG|hg19|chr11|75694488|75694488|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr11:75694488C>T|ENST00000533454.1|+|3|||||0.32169576059850374|TGAACTGGAACGGCAGAAGAA|UVRAG_ENST00000356136.3_MISSENSE_p.R253W/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.R152W/UVRAG_ENST00000539288.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr11 75694530 exm942122 A G . PASS FUNCOTATION=[UVRAG|hg19|chr11|75694530|75694530|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr11:75694530A>G|ENST00000533454.1|+|3|||||0.34413965087281795|ATTACTGCATAAGCAACAAAT|UVRAG_ENST00000356136.3_MISSENSE_p.K267E/UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000539288.1_DE_NOVO_START_OUT_FRAME/UVRAG_ENST00000528420.1_MISSENSE_p.K166E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr11 78282425 exm944472 G C . PASS FUNCOTATION=[NARS2|hg19|chr11|78282425|78282425|DE_NOVO_START_OUT_FRAME||SNP|G|G|C|g.chr11:78282425G>C|ENST00000528850.1|-|2|||||0.3790523690773067|GCTTTCCAAAGATGACCCATC|NARS2_ENST00000281038.5_MISSENSE_p.S69C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr11 111753117 indel.21284 C CGT . PASS FUNCOTATION=[C11orf1|hg19|chr11|111753117|111753118|FRAME_SHIFT_INS||INS|-|-|GT|g.chr11:111753117_111753118insGT|ENST00000530214.1|+|2|90|c.71_72insGT|c.(70-72)acafs|p.N25fs|0.4425|GTTTCCTCACAAACCCACAC|C11orf1_ENST00000528125.1_FIVE_PRIME_UTR/C11orf1_ENST00000260276.3_FRAME_SHIFT_INS_p.N25fs/C11orf1_ENST00000529270.1_FRAME_SHIFT_INS_p.N65fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr11 113565234 exm956500 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565234|113565234|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr11:113565234G>A|ENST00000536856.1|-|6|||||0.5586034912718204|ACCACCCAGCGTGGCGCTAGC|TMPRSS5_ENST00000299882.5_MISSENSE_p.R251C/TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME/TMPRSS5_ENST00000545579.1_MISSENSE_p.R242C/TMPRSS5_ENST00000538955.1_MISSENSE_p.R207C/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr11 113565260 exm1695050 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565260|113565260|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr11:113565260G>A|ENST00000536856.1|-|6|||||0.5760598503740648|GCCCCCACACGTGTGCCGGAA|TMPRSS5_ENST00000299882.5_MISSENSE_p.T242M/TMPRSS5_ENST00000545579.1_MISSENSE_p.T233M/TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME/TMPRSS5_ENST00000538955.1_MISSENSE_p.T198M/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr11 113565234 exm956500 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565234|113565234|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr11:113565234G>A|ENST00000536856.1|-|6|||||0.5586034912718204|ACCACCCAGCGTGGCGCTAGC|TMPRSS5_ENST00000299882.5_MISSENSE_p.R251C/TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME/TMPRSS5_ENST00000545579.1_MISSENSE_p.R242C/TMPRSS5_ENST00000538955.1_MISSENSE_p.R207C/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr11 113565260 exm1695050 G A . PASS FUNCOTATION=[TMPRSS5|hg19|chr11|113565260|113565260|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr11:113565260G>A|ENST00000536856.1|-|6|||||0.5760598503740648|GCCCCCACACGTGTGCCGGAA|TMPRSS5_ENST00000299882.5_MISSENSE_p.T242M/TMPRSS5_ENST00000545579.1_MISSENSE_p.T233M/TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME/TMPRSS5_ENST00000538955.1_MISSENSE_p.T198M/TMPRSS5_ENST00000544634.1_INTRON/TMPRSS5_ENST00000544476.1_INTRON/TMPRSS5_ENST00000545265.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 11243923 indel.23289 TTTCACC T . PASS FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065] chr12 29597130 indel.23912 T TA . PASS FUNCOTATION=[OVCH1|hg19|chr12|29597130|29597131|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:29597130_29597131insA|ENST00000318184.5|-|24|2965|c.2964_2965insT|c.(2965-2967)aagfs|p.K989fs|0.3825|CTTCTGGCTTGGTCAGAAGA|OVCH1-AS1_ENST00000551108.1_INTRON/OVCH1-AS1_ENST00000549411.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 52201139 indel.24708 A AC . PASS FUNCOTATION=[SCN8A|hg19|chr12|52201139|52201140|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:52201139_52201140insC|ENST00000354534.6|+|27|6047|c.5869_5870insC|c.(5869-5871)aaafs|p.K1957fs|0.465|GAAAAGGAGAAACAGCAGCG|SCN8A_ENST00000545061.1_FRAME_SHIFT_INS_p.K1916fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 53699726 indel.24975 T TA . PASS FUNCOTATION=[C12orf10|hg19|chr12|53699726|53699727|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:53699726_53699727insA|ENST00000549488.1|+|2|205|c.35_36insA|c.(34-36)gtgfs|p.D13fs|0.515|TGGATGCTGTGGACAATGGG|C12orf10_ENST00000267103.5_FRAME_SHIFT_INS_p.D176fs/C12orf10_ENST00000548632.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr12 54405153 indel.25064 A AC . PASS FUNCOTATION=[HOXC8|hg19|chr12|54405153|54405154|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:54405153_54405154insC|ENST00000040584.4|+|2|954|c.717_718insC|c.(718-720)aacfs|p.N240fs|0.44|AAAGGAAGAAAACAAGGACT|RP11-834C11.12_ENST00000513209.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr12 54405153 indel.25064 A AC . PASS FUNCOTATION=[HOXC8|hg19|chr12|54405153|54405154|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:54405153_54405154insC|ENST00000040584.4|+|2|954|c.717_718insC|c.(718-720)aacfs|p.N240fs|0.44|AAAGGAAGAAAACAAGGACT|RP11-834C11.12_ENST00000513209.1_INTRON/HOXC6_ENST00000394331.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 55248357 rs1048371 G T . PASS FUNCOTATION=[MUCL1|hg19|chr12|55248357|55248357|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr12:55248357G>T|ENST00000308796.6|+|1|||||0.44389027431421446|CTGATCTTCAGGTCACCACCA|MUCL1_ENST00000546809.1_INTRON/MUCL1_ENST00000547990.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 68719304 exm1020408 T C . PASS FUNCOTATION=[MDM1|hg19|chr12|68719304|68719304|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr12:68719304T>C|ENST00000540418.1|-|3|||||0.3192019950124688|CTCAAGGCATTATATGAAGGA|MDM1_ENST00000411698.2_INTRON/MDM1_ENST00000303145.7_MISSENSE_p.N184D/MDM1_ENST00000393543.3_THREE_PRIME_UTR/MDM1_ENST00000430606.2_THREE_PRIME_UTR/MDM1_ENST00000545724.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 100452662 indel.26607 G GA . PASS FUNCOTATION=[UHRF1BP1L|hg19|chr12|100452662|100452663|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:100452662_100452663insA|ENST00000279907.7|-|14|2606|c.2392_2393insT|c.(2392-2394)cctfs|p.P798fs|0.4025|GACGAGGAAGGGGAAAATCT|UHRF1BP1L_ENST00000545232.2_FRAME_SHIFT_INS_p.P448fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1427,7 +1427,7 @@ chr12 120111850 exm2250630 C T . PASS FUNCOTATION=[PRKAB1|hg19|chr12|120111850|1 chr12 122977328 exm1046212 A C . PASS FUNCOTATION=[ZCCHC8|hg19|chr12|122977328|122977328|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr12:122977328A>C|ENST00000543897.1|-|2|||||0.3266832917705736|ATCGTTCACCAATATTCCACT|ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME/ZCCHC8_ENST00000336229.4_MISSENSE_p.L84W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 133727648 indel.28471 T TA . PASS FUNCOTATION=[ZNF10|hg19|chr12|133727648|133727649|FRAME_SHIFT_INS||INS|-|-|A|g.chr12:133727648_133727649insA|ENST00000248211.6|+|3|290|c.68_69insA|c.(67-69)ttcfs|p.F23fs|0.44|TTGTGGACTTCACCAGGGAG|ZNF10_ENST00000426665.2_FRAME_SHIFT_INS_p.F23fs/CTD-2140B24.4_ENST00000540096.2_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000402932.2_FRAME_SHIFT_INS_p.F23fs/ZNF268_ENST00000416488.1_FRAME_SHIFT_INS_p.F23fs/ZNF10_ENST00000540927.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr12 133780295 indel.28489 A AC . PASS FUNCOTATION=[ZNF268|hg19|chr12|133780295|133780296|FRAME_SHIFT_INS||INS|-|-|C|g.chr12:133780295_133780296insC|ENST00000536435.2|+|6|2353|c.2023_2024insC|c.(2023-2025)aaafs|p.K675fs|0.4025|CAATGTGCAAAAACCTTTAG|ZNF268_ENST00000228289.5_FRAME_SHIFT_INS_p.K675fs/ZNF268_ENST00000541009.2_THREE_PRIME_UTR/ZNF268_ENST00000542986.2_THREE_PRIME_UTR/ZNF268_ENST00000536899.2_THREE_PRIME_UTR/ZNF268_ENST00000537565.1_FRAME_SHIFT_INS_p.K514fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr13 21714654 exm1792536 A G . PASS FUNCOTATION=[SAP18|hg19|chr13|21714654|21714654|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr13:21714654A>G|ENST00000382533.4|+|1|||||0.6259351620947631|GGCCGACTATAAAGTGTCGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr13 21714654 exm1792536 A G . PASS FUNCOTATION=[SAP18|hg19|chr13|21714654|21714654|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr13:21714654A>G|ENST00000382533.4|+|1|||||0.6259351620947631|GGCCGACTATAAAGTGTCGAG|SAP18_ENST00000485646.1_FIVE_PRIME_FLANK/SAP18_ENST00000607003.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr13 37427618 indel.29113 G GT . PASS FUNCOTATION=[SMAD9|hg19|chr13|37427618|37427619|FRAME_SHIFT_INS||INS|-|-|T|g.chr13:37427618_37427619insT|ENST00000350148.5|-|5|1396|c.1086_1087insA|c.(1087-1089)cacfs|p.H363fs|0.475|CAAAGCCGTGGTGAACTGAC|SMAD9_ENST00000399275.2_FRAME_SHIFT_INS_p.H400fs/SMAD9_ENST00000379826.4_FRAME_SHIFT_INS_p.H400fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr13 76335079 exm2251544 C T . PASS FUNCOTATION=[LMO7|hg19|chr13|76335079|76335079|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr13:76335079C>T|ENST00000321797.8|+|2|||||0.3516209476309227|ATAATATAAACGTTTTCTTGA|LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME/LMO7_ENST00000341547.4_SILENT_p.N126N/LMO7_ENST00000526202.1_SILENT_p.N35N/LMO7_ENST00000357063.3_SILENT_p.N126N/LMO7_ENST00000377534.3_SILENT_p.N126N/RP11-29G8.3_ENST00000563635.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr14 31917379 indel.31575 T TGG . PASS FUNCOTATION=[DTD2|hg19|chr14|31917379|31917380|FRAME_SHIFT_INS||INS|-|-|GG|g.chr14:31917379_31917380insGG|ENST00000310850.4|-|3|580|c.462_463insCC|c.(463-465)aagfs|p.K155fs|0.365|TGTCCAGCTTTAACACCTGC|RP11-176H8.1_ENST00000547378.1_INTRON/DTD2_ENST00000356180.4_FRAME_SHIFT_INS_p.K155fs/CTD-2213F21.2_ENST00000502430.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1442,29 +1442,29 @@ chr15 77348407 exm1179460 G A . PASS FUNCOTATION=[TSPAN3|hg19|chr15|77348407|773 chr16 66432463 exm1246534 C T . PASS FUNCOTATION=[CDH5|hg19|chr16|66432463|66432463|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr16:66432463C>T|ENST00000539168.1|+|4|||||0.5187032418952618|CGGATAATCACGGTAGGCATC|CDH5_ENST00000341529.3_SPLICE_SITE_p.H530H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr17 4955266 psy_rs117556792 G A . PASS FUNCOTATION=[SLC52A1|hg19|chr17|4955266|4955266|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr17:4955266G>A|ENST00000512825.2|-|1|||||0.486284289276808|GCCAGGCACCGTGGCTCAGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr17 8021612 exm1290936 C A . PASS FUNCOTATION=[ALOXE3|hg19|chr17|8021612|8021612|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr17:8021612C>A|ENST00000448843.2|-|2|||||0.6109725685785536|TATCAGGAGCCTGGGTTCCAC|ALOXE3_ENST00000380149.1_MISSENSE_p.Q55H/ALOXE3_ENST00000318227.3_MISSENSE_p.Q31H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr17 33772713 exm1882307 C A . PASS FUNCOTATION=[SLFN13|hg19|chr17|33772713|33772713|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr17:33772713C>A|ENST00000533791.1|-|1|||||0.4089775561097257|GAACTTGCACCTTAAAGTATT|SLFN13_ENST00000285013.6_SPLICE_SITE/SLFN13_ENST00000526861.1_SPLICE_SITE/SLFN13_ENST00000542635.1_SPLICE_SITE/SLFN13_ENST00000534689.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr17 43212963 exm2226509 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr17 43212963 rs2291447 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr17 45730168 exm1332330 C G . PASS FUNCOTATION=[KPNB1|hg19|chr17|45730168|45730168|DE_NOVO_START_OUT_FRAME||SNP|C|C|G|g.chr17:45730168C>G|ENST00000540627.1|+|2|||||0.4164588528678304|ATCTAAAGATCCAGATATCAA|KPNB1_ENST00000290158.4_MISSENSE_p.P70A/KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME/KPNB1_ENST00000577918.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr17 33772713 exm1882307 C A . PASS FUNCOTATION=[SLFN13|hg19|chr17|33772713|33772713|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr17:33772713C>A|ENST00000533791.1|-|1|||||0.4089775561097257|GAACTTGCACCTTAAAGTATT|SLFN13_ENST00000285013.6_SPLICE_SITE/SLFN13_ENST00000526861.1_SPLICE_SITE/SLFN13_ENST00000542635.1_SPLICE_SITE/SLFN13_ENST00000534689.1_SPLICE_SITE/SLFN13_ENST00000360502.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr17 43212963 exm2226509 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr17 43212963 rs2291447 G T . PASS FUNCOTATION=[ACBD4|hg19|chr17|43212963|43212963|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr17:43212963G>T|ENST00000431281.1|+|2|||||0.628428927680798|GGTTGAGGTAGGTAAGCCGAA|ACBD4_ENST00000591859.1_INTRON/ACBD4_ENST00000321854.8_FIVE_PRIME_FLANK/ACBD4_ENST00000376955.4_FIVE_PRIME_FLANK/ACBD4_ENST00000398322.3_FIVE_PRIME_FLANK/ACBD4_ENST00000586346.1_FIVE_PRIME_FLANK/ACBD4_ENST00000591136.1_FIVE_PRIME_FLANK/ACBD4_ENST00000592162.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr17 45730168 exm1332330 C G . PASS FUNCOTATION=[KPNB1|hg19|chr17|45730168|45730168|DE_NOVO_START_OUT_FRAME||SNP|C|C|G|g.chr17:45730168C>G|ENST00000540627.1|+|2|||||0.4164588528678304|ATCTAAAGATCCAGATATCAA|KPNB1_ENST00000290158.4_MISSENSE_p.P70A/KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME/KPNB1_ENST00000537679.1_FIVE_PRIME_FLANK/KPNB1_ENST00000577918.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr17 73242591 exm1353848 G A . PASS FUNCOTATION=[GGA3|hg19|chr17|73242591|73242591|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr17:73242591G>A|ENST00000582486.1|-|3|||||0.5960099750623441|AGGACCTACCGTCAGGGCCTG|GGA3_ENST00000578348.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000245541.6_SPLICE_SITE_p.T67M/GGA3_ENST00000582717.1_DE_NOVO_START_IN_FRAME/GGA3_ENST00000351904.7_SPLICE_SITE_p.T67M/GGA3_ENST00000537686.1_SPLICE_SITE_p.T67M/GGA3_ENST00000538886.1_INTRON/GGA3_ENST00000579743.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr18 72914161 exm1393249 T C . PASS FUNCOTATION=[ZADH2|hg19|chr18|72914161|72914161|DE_NOVO_START_OUT_FRAME||SNP|T|T|C|g.chr18:72914161T>C|ENST00000537114.2|-|2|||||0.4837905236907731|GCCAACTGTGTATCTGGCACT|ZADH2_ENST00000322342.3_MISSENSE_p.Y115C|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr18 72914280 rs7230037 G A . PASS FUNCOTATION=[ZADH2|hg19|chr18|72914280|72914280|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr18:72914280G>A|ENST00000537114.2|-|2|||||0.4389027431421446|TGTCAGATGCGTTAACACCAA|ZADH2_ENST00000322342.3_SILENT_p.N75N|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr19 6670529 rs3760746 G A . PASS FUNCOTATION=[TNFSF14|hg19|chr19|6670529|6670529|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:6670529G>A|ENST00000599359.1|-|1|||||0.5336658354114713|AAGAAACCTCGTAAACAAGAA|TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr19 6670529 rs3760746 G A . PASS FUNCOTATION=[TNFSF14|hg19|chr19|6670529|6670529|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:6670529G>A|ENST00000599359.1|-|1|||||0.5336658354114713|AAGAAACCTCGTAAACAAGAA|TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME/TNFSF14_ENST00000245912.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr19 18994994 exm2253710 G A . PASS FUNCOTATION=[GDF1|hg19|chr19|18994994|18994994|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:18994994G>A|ENST00000247005.6|-|3|||||0.6259351620947631|ATAGCGTAGCGTAGATGGAGT|CERS1_ENST00000429504.2_SILENT_p.Y164Y/CERS1_ENST00000542296.2_SILENT_p.Y66Y/CERS1_ENST00000427170.2_SILENT_p.Y164Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr19 40542375 variant.55743 G A . PASS FUNCOTATION=[ZNF780B|hg19|chr19|40542375|40542375|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr19:40542375G>A|ENST00000221355.6|-|6|||||0.32917705735660846|TGTCCCTGTCGTCCCTCAAAT|ZNF780B_ENST00000434248.1_NONSENSE_p.R131*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr19 41903671 rs892044 A G . PASS FUNCOTATION=[BCKDHA|hg19|chr19|41903671|41903671|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr19:41903671A>G|ENST00000269980.2|+|1|||||0.5511221945137157|TCAGGCACATAAAGAGGCAGC|CTC-435M10.3_ENST00000540732.1_INTRON/BCKDHA_ENST00000595085.1_INTRON/CTC-435M10.3_ENST00000604424.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr19 41903671 rs892044 A G . PASS FUNCOTATION=[BCKDHA|hg19|chr19|41903671|41903671|DE_NOVO_START_OUT_FRAME||SNP|A|A|G|g.chr19:41903671A>G|ENST00000269980.2|+|1|||||0.5511221945137157|TCAGGCACATAAAGAGGCAGC|CTC-435M10.3_ENST00000540732.1_INTRON/BCKDHA_ENST00000595085.1_INTRON/BCKDHA_ENST00000457836.2_FIVE_PRIME_FLANK/CTC-435M10.3_ENST00000604424.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 3718692 rs13409104 C T . PASS FUNCOTATION=[ALLC|hg19|chr2|3718692|3718692|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr2:3718692C>T|ENST00000252505.3|+|2|||||0.5211970074812967|CCAGGAAGCACGGCTGATGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr2 25194771 exm2018058 C T . PASS FUNCOTATION=[DNAJC27|hg19|chr2|25194771|25194771|START_CODON_SNP||SNP|C|C|T|g.chr2:25194771C>T|ENST00000264711.2|-|1|193|c.3G>A|c.(1-3)atG>atA|p.M1I|0.713216957605985|TGTTGGCCTCCATGGCCCTGG|DNAJC27-AS1_ENST00000421904.1_RNA/DNAJC27-AS1_ENST00000451291.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr2 25194771 exm2018058 C T . PASS FUNCOTATION=[DNAJC27|hg19|chr2|25194771|25194771|START_CODON_SNP||SNP|C|C|T|g.chr2:25194771C>T|ENST00000264711.2|-|1|193|c.3G>A|c.(1-3)atG>atA|p.M1I|0.713216957605985|TGTTGGCCTCCATGGCCCTGG|DNAJC27_ENST00000468467.1_FIVE_PRIME_FLANK/DNAJC27_ENST00000534855.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000421904.1_RNA/DNAJC27-AS1_ENST00000451291.1_RNA/DNAJC27-AS1_ENST00000421842.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000422449.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000428614.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000434897.1_FIVE_PRIME_FLANK/DNAJC27-AS1_ENST00000445389.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 26679385 exm178577 A C . PASS FUNCOTATION=[DRC1|hg19|chr2|26679385|26679385|NONSTOP||SNP|A|A|C|g.chr2:26679385A>C|ENST00000288710.2|+|17|2297|c.2223A>C|c.(2221-2223)tgA>tgC|p.*741C|0.5411471321695761|CCACAAAATGAGCTGGACCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 27870801 indel.59967 G GGC . PASS FUNCOTATION=[GPN1|hg19|chr2|27870801|27870802|FRAME_SHIFT_INS||INS|-|-|GC|g.chr2:27870801_27870802insGC|ENST00000610189.1|+|13|1037|c.1030_1031insGC|c.(1030-1032)gacfs|p.D344fs|0.4575|GATGACATTGACCACAGAGG|GPN1_ENST00000264718.3_FRAME_SHIFT_INS_p.D358fs/GPN1_ENST00000424214.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000515877.1_FRAME_SHIFT_INS_p.D265fs/GPN1_ENST00000458167.2_FRAME_SHIFT_INS_p.D249fs/GPN1_ENST00000407583.3_FRAME_SHIFT_INS_p.D332fs/GPN1_ENST00000503738.1_FRAME_SHIFT_INS_p.D249fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 29093143 exm183039 T C . PASS FUNCOTATION=[TRMT61B|hg19|chr2|29093143|29093143|START_CODON_SNP||SNP|T|T|C|g.chr2:29093143T>C|ENST00000306108.5|-|1|25|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6533665835411472|GCCATTAGCATAGTGTTTCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 54483287 exm194087 A G . PASS FUNCOTATION=[TSPYL6|hg19|chr2|54483287|54483287|START_CODON_SNP||SNP|A|A|G|g.chr2:54483287A>G|ENST00000317802.7|-|1|123|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6034912718204489|CGGGAGGCTCATGTTGGTAGC|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 54483288 exm194088 T C . PASS FUNCOTATION=[TSPYL6|hg19|chr2|54483288|54483288|START_CODON_SNP||SNP|T|T|C|g.chr2:54483288T>C|ENST00000317802.7|-|1|122|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.600997506234414|GGGAGGCTCATGTTGGTAGCG|ACYP2_ENST00000394666.3_INTRON/ACYP2_ENST00000607452.1_INTRON/ACYP2_ENST00000303536.4_INTRON/ACYP2_ENST00000606865.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr2 54558114 exm194103 T C . PASS FUNCOTATION=[C2orf73|hg19|chr2|54558114|54558114|START_CODON_SNP||SNP|T|T|C|g.chr2:54558114T>C|ENST00000398634.2|+|1|44|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5660847880299252|TAGAGGCCCATGGAGGAAAAG|C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr2 54558114 exm194103 T C . PASS FUNCOTATION=[C2orf73|hg19|chr2|54558114|54558114|START_CODON_SNP||SNP|T|T|C|g.chr2:54558114T>C|ENST00000398634.2|+|1|44|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5660847880299252|TAGAGGCCCATGGAGGAAAAG|C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T/C2orf73_ENST00000491538.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 71163086 exm200378 T C . PASS FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642] chr2 74709963 exm204648 A G . PASS FUNCOTATION=[CCDC142|hg19|chr2|74709963|74709963|START_CODON_SNP||SNP|A|A|G|g.chr2:74709963A>G|ENST00000290418.4|-|1|161|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|CGCCTGGGCCATGGGGCGGCG|CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T/CCDC142_ENST00000471713.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 84777170 indel.61662 C CT . PASS FUNCOTATION=[DNAH6|hg19|chr2|84777170|84777171|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:84777170_84777171insT|ENST00000237449.6|+|8|1482|c.1474_1475insT|c.(1474-1476)cctfs|p.P492fs|0.36|CCTGAAGTCCCTGATAAAAA|DNAH6_ENST00000389394.3_FRAME_SHIFT_INS_p.P492fs/DNAH6_ENST00000398278.2_FRAME_SHIFT_INS_p.P492fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr2 85629266 exm207178 C T . PASS FUNCOTATION=[CAPG|hg19|chr2|85629266|85629266|START_CODON_SNP||SNP|C|C|T|g.chr2:85629266C>T|ENST00000409921.1|-|2|70|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5261845386533666|TGGCTGTGTACATGCTGTCTT|CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I/CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I/CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr2 85629266 exm207178 C T . PASS FUNCOTATION=[CAPG|hg19|chr2|85629266|85629266|START_CODON_SNP||SNP|C|C|T|g.chr2:85629266C>T|ENST00000409921.1|-|2|70|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5261845386533666|TGGCTGTGTACATGCTGTCTT|CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I/CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I/CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I/CAPG_ENST00000483659.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 86849962 indel.61839 G GC . PASS FUNCOTATION=[RNF103|hg19|chr2|86849962|86849963|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:86849962_86849963insC|ENST00000237455.4|-|1|1017|c.47_48insG|c.(46-48)ttcfs|p.F16fs|0.6125|GGCCAGGACGAACAGGACCA|RNF103-CHMP3_ENST00000604011.1_INTRON/CHMP3_ENST00000439940.2_INTRON/RNF103_ENST00000477307.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 96859067 indel.61977 T TC . PASS FUNCOTATION=[STARD7|hg19|chr2|96859067|96859068|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:96859067_96859068insC|ENST00000337288.5|-|4|957|c.572_573insG|c.(571-573)aaafs|p.W192fs|0.4125|GGCATCCCATTTTTTTCTAT|STARD7_ENST00000462501.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 101086951 exm216544 A G . PASS FUNCOTATION=[NMS|hg19|chr2|101086951|101086951|START_CODON_SNP||SNP|A|A|G|g.chr2:101086951A>G|ENST00000376865.1|+|1|8|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5536159600997507|GACTCTCACAATGAAACATCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1478,8 +1478,8 @@ chr2 150294223 exm231995 A G . PASS FUNCOTATION=[LYPD6|hg19|chr2|150294223|15029 chr2 152511831 indel.63250 T TC . PASS FUNCOTATION=[NEB|hg19|chr2|152511831|152511832|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:152511831_152511832insC|ENST00000604864.1|-|49|6760|c.6759_6760insG|c.(6760-6762)acafs|p.T2254fs|0.295|TATCTGGTGTATCAGGCATC|NEB_ENST00000603639.1_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000409198.1_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000427231.2_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000397345.3_FRAME_SHIFT_INS_p.T2254fs/NEB_ENST00000172853.10_FRAME_SHIFT_INS_p.T2254fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 167759994 exm238877 T C . PASS FUNCOTATION=[XIRP2|hg19|chr2|167759994|167759994|START_CODON_SNP||SNP|T|T|C|g.chr2:167759994T>C|ENST00000409728.1|+|2|91|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.45885286783042395|GACCCATCCATGTTCCCAATG|XIRP2_ENST00000409043.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000409195.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000420519.1_START_CODON_SNP_p.M1T/XIRP2_ENST00000409756.2_START_CODON_SNP_p.M1T/XIRP2_ENST00000295237.9_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 169727989 indel.63772 A AT . PASS FUNCOTATION=[SPC25|hg19|chr2|169727989|169727990|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:169727989_169727990insT|ENST00000282074.2|-|7|769|c.626_627insA|c.(625-627)gctfs|p.L211fs|0.31|GGCAAGAAAAGCTGAAAAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr2 169923213 kgp14846241 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169923213|169923213|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169923213C>T|ENST00000602501.1|+|2|||||0.38902743142144636|CACTTTTCAACGCAGGACCTC|DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9796_%2C_._%2C_0.02037|false|false|1||false|true|false|DHRS9:10170|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|16856426|169923213|false|false|0|true|0|false|0.997733_%2C_._%2C_0.00226664|false|false|true|SNV|true|0x050100420005150436000100|1|false|123|rs16856426] -chr2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286] +chr2 169923213 kgp14846241 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169923213|169923213|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169923213C>T|ENST00000602501.1|+|2|||||0.38902743142144636|CACTTTTCAACGCAGGACCTC|DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME/DHRS9_ENST00000357546.2_FIVE_PRIME_FLANK/DHRS9_ENST00000421653.1_FIVE_PRIME_FLANK/DHRS9_ENST00000428522.1_FIVE_PRIME_FLANK/DHRS9_ENST00000432060.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9796_%2C_._%2C_0.02037|false|false|1||false|true|false|DHRS9:10170|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|16856426|169923213|false|false|0|true|0|false|0.997733_%2C_._%2C_0.00226664|false|false|true|SNV|true|0x050100420005150436000100|1|false|123|rs16856426] +chr2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286] chr2 175614897 indel.64033 C CT . PASS FUNCOTATION=[CHRNA1|hg19|chr2|175614897|175614898|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|T|g.chr2:175614897_175614898insT|ENST00000409219.1|-|7|797|c.778_779insA|c.(778-780)gggfs|p.G260fs|0.4625|ATCTTCTCCCCTGAAAAGAC|CHRNA1_ENST00000348749.5_SPLICE_SITE_p.G260fs/CHRNA1_ENST00000261007.5_SPLICE_SITE_p.G285fs/CHRNA1_ENST00000409542.1_SPLICE_SITE_p.G178fs/AC018890.6_ENST00000442996.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 175629122 exm243337 T C . PASS FUNCOTATION=[CHRNA1|hg19|chr2|175629122|175629122|START_CODON_SNP||SNP|T|T|C|g.chr2:175629122T>C|ENST00000409219.1|-|1|19|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5760598503740648|CAGGGCTCCATGGGCTACCGG|CHRNA1_ENST00000348749.5_START_CODON_SNP_p.M1V/CHRNA1_ENST00000261007.5_START_CODON_SNP_p.M1V/CHRNA1_ENST00000409323.1_START_CODON_SNP_p.M1V/CHRNA1_ENST00000409542.1_START_CODON_SNP_p.M1V/AC018890.6_ENST00000442996.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 178415667 indel.64070 T TC . PASS FUNCOTATION=[TTC30B|hg19|chr2|178415667|178415668|FRAME_SHIFT_INS||INS|-|-|C|g.chr2:178415667_178415668insC|ENST00000408939.3|-|1|2076|c.1824_1825insG|c.(1825-1827)attfs|p.I609fs|0.365|ATTCTTGAATAACACTATCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1487,11 +1487,11 @@ chr2 187487140 indel.64390 A ACCT . PASS FUNCOTATION=[ITGAV|hg19|chr2|187487140| chr2 187692863 indel.64404 T TA . PASS FUNCOTATION=[ZSWIM2|hg19|chr2|187692863|187692864|FRAME_SHIFT_INS||INS|-|-|A|g.chr2:187692863_187692864insA|ENST00000295131.2|-|9|1790|c.1749_1750insT|c.(1750-1752)agcfs|p.S584fs|0.345|TAGCTGTGCTCCAATTGACA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 191184475 exm253061 A G . PASS FUNCOTATION=[HIBCH|hg19|chr2|191184475|191184475|START_CODON_SNP||SNP|A|A|G|g.chr2:191184475A>G|ENST00000359678.5|-|1|297|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6633416458852868|GCGCTGCCCCATCGCCAAACA|HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5683_%2C_0.4317|false|false|1||false|true|true|HIBCH:26275|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|291466|191184475|false|false|0|true|0|false|0.490041_%2C_0.509959|false|false|false|SNV|true|0x050100000a0517053f000101|1|false|79|rs291466] chr2 197208381 exm254675 G A . PASS FUNCOTATION=[HECW2|hg19|chr2|197208381|197208381|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr2:197208381G>A|ENST00000409111.1|-|2|||||0.3117206982543641|AGTTACTTACGTTCCATGAAA|HECW2_ENST00000260983.3_SPLICE_SITE_p.P134S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr2 202122956 exm256838 T C . PASS FUNCOTATION=[CASP8|hg19|chr2|202122956|202122956|START_CODON_SNP||SNP|T|T|C|g.chr2:202122956T>C|ENST00000358485.4|+|1|198|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4937655860349127|AGTGAGGCCATGGAGGGAGGC|CASP8_ENST00000264275.5_INTRON/CASP8_ENST00000432109.2_INTRON/CASP8_ENST00000392258.3_INTRON/CASP8_ENST00000392259.2_INTRON/CASP8_ENST00000392266.3_INTRON/CASP8_ENST00000264274.9_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr2 202122956 exm256838 T C . PASS FUNCOTATION=[CASP8|hg19|chr2|202122956|202122956|START_CODON_SNP||SNP|T|T|C|g.chr2:202122956T>C|ENST00000358485.4|+|1|198|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.4937655860349127|AGTGAGGCCATGGAGGGAGGC|CASP8_ENST00000264275.5_INTRON/CASP8_ENST00000432109.2_INTRON/CASP8_ENST00000392258.3_INTRON/CASP8_ENST00000392259.2_INTRON/CASP8_ENST00000392266.3_INTRON/CASP8_ENST00000264274.9_INTRON/CASP8_ENST00000323492.7_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 209358383 exm261124 G T . PASS FUNCOTATION=[PTH2R|hg19|chr2|209358383|209358383|NONSTOP||SNP|G|G|T|g.chr2:209358383G>T|ENST00000272847.2|+|13|1865|c.1652G>T|c.(1651-1653)tGa>tTa|p.*551L|0.4538653366583541|GATGTTCTCTGAATGGACATT|AC019185.4_ENST00000424628.1_RNA/PTH2R_ENST00000413482.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 216946463 exm263596 A G . PASS FUNCOTATION=[PECR|hg19|chr2|216946463|216946463|START_CODON_SNP||SNP|A|A|G|g.chr2:216946463A>G|ENST00000265322.7|-|1|77|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.713216957605985|CCAGGAGGCCATCCCTGCAGC|PECR_ENST00000497889.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 219029932 exm264611 C T . PASS FUNCOTATION=[CXCR1|hg19|chr2|219029932|219029932|START_CODON_SNP||SNP|C|C|T|g.chr2:219029932C>T|ENST00000295683.2|-|2|124|c.3G>A|c.(1-3)atG>atA|p.M1I|0.456359102244389|TAATATTTGACATGTCCTCTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747] +chr2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747] chr2 225265759 indel.65842 G GT . PASS FUNCOTATION=[FAM124B|hg19|chr2|225265759|225265760|FRAME_SHIFT_INS||INS|-|-|T|g.chr2:225265759_225265760insT|ENST00000409685.3|-|1|993|c.726_727insA|c.(727-729)cttfs|p.L243fs|0.4975|ATACCTGAAGCAGAATCTTG|FAM124B_ENST00000389874.3_FRAME_SHIFT_INS_p.L243fs/FAM124B_ENST00000243806.2_FRAME_SHIFT_INS_p.L243fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr2 238667455 indel.66367 G GTAA . PASS FUNCOTATION=[LRRFIP1|hg19|chr2|238667455|238667456|IN_FRAME_INS||INS|-|-|TAA|g.chr2:238667455_238667456insTAA|ENST00000308482.9|+|18|1377|c.1308_1309insTAA|c.(1309-1311)gaa>TAAgaa|p.436_437ins*|0.3775|GCTGAAAGAGGAATTAAAGG|LRRFIP1_ENST00000244815.5_INTRON/LRRFIP1_ENST00000289175.6_INTRON/LRRFIP1_ENST00000392000.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LRRFIP1:9208|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|752147133|238667455|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000200|1|false|144|rs752147133] chr21 37948710 exm2275316 G A . PASS FUNCOTATION=[CLDN14|hg19|chr21|37948710|37948710|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr21:37948710G>A|ENST00000342108.2|-|1|||||0.4937655860349127|GCCACTCACCGTGCTGCTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1500,15 +1500,15 @@ chr22 24034867 exm1592938 C T . PASS FUNCOTATION=[RGL4|hg19|chr22|24034867|24034 chr22 30983274 exm1600038 G A . PASS FUNCOTATION=[PES1|hg19|chr22|30983274|30983274|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr22:30983274G>A|ENST00000405677.1|-|6|||||0.47880299251870323|CCGGCTCACCGTTCCTTGATG|PES1_ENST00000354694.7_SPLICE_SITE_p.R123W/PES1_ENST00000335214.6_SPLICE_SITE_p.R123W/PES1_ENST00000402281.1_DE_NOVO_START_OUT_FRAME/PES1_ENST00000402284.3_SPLICE_SITE_p.R123W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 9932407 exm288739 A G . PASS FUNCOTATION=[JAGN1|hg19|chr3|9932407|9932407|START_CODON_SNP||SNP|A|A|G|g.chr3:9932407A>G|ENST00000307768.4|+|1|170|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.7032418952618454|GGCAGGCACAATGGCGTCTCG|JAGN1_ENST00000489724.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 11643465 exm290624 T C . PASS FUNCOTATION=[VGLL4|hg19|chr3|11643465|11643465|DE_NOVO_START_IN_FRAME||SNP|T|T|C|g.chr3:11643465T>C|ENST00000413604.1|-|2|||||0.5760598503740648|GCAGGGTCTGTATTCTGGGTT|VGLL4_ENST00000430365.2_MISSENSE_p.I38M/VGLL4_ENST00000273038.3_MISSENSE_p.I32M/VGLL4_ENST00000404339.1_MISSENSE_p.I37M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr3 15643175 rs2279841 G A . PASS FUNCOTATION=[HACL1|hg19|chr3|15643175|15643175|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:15643175G>A|ENST00000321169.5|-|1|||||0.5685785536159601|AAACACGCGCGTTCTCCAATC|BTD_ENST00000449107.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr3 15643175 rs2279841 G A . PASS FUNCOTATION=[HACL1|hg19|chr3|15643175|15643175|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr3:15643175G>A|ENST00000321169.5|-|1|||||0.5685785536159601|AAACACGCGCGTTCTCCAATC|BTD_ENST00000449107.1_FIVE_PRIME_UTR/BTD_ENST00000303498.5_FIVE_PRIME_FLANK/BTD_ENST00000383778.4_FIVE_PRIME_FLANK/HACL1_ENST00000435217.2_FIVE_PRIME_FLANK/BTD_ENST00000437172.1_FIVE_PRIME_FLANK/HACL1_ENST00000451445.2_FIVE_PRIME_FLANK/HACL1_ENST00000456194.2_FIVE_PRIME_FLANK/HACL1_ENST00000457447.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 17131402 exm294647 T G . PASS FUNCOTATION=[PLCL2|hg19|chr3|17131402|17131402|NONSTOP||SNP|T|T|G|g.chr3:17131402T>G|ENST00000418129.2|+|6|3469|c.3004T>G|c.(3004-3006)Tga>Gga|p.*1002G|0.38154613466334164|AACTGGAGAATGAGGAAACTT|PLCL2_ENST00000432376.1_NONSTOP_p.*1002G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 25835983 exm295920 T C . PASS FUNCOTATION=[OXSM|hg19|chr3|25835983|25835983|NONSTOP||SNP|T|T|C|g.chr3:25835983T>C|ENST00000280701.3|+|3|1477|c.1378T>C|c.(1378-1380)Tag>Cag|p.*460Q|0.3491271820448878|TGCTGGACTGTAGAACATATA|OXSM_ENST00000420173.2_NONSTOP_p.*377Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 27418257 exm296156 A G . PASS FUNCOTATION=[SLC4A7|hg19|chr3|27418257|27418257|NONSTOP||SNP|A|A|G|g.chr3:27418257A>G|ENST00000435667.2|-|25|3627|c.3406T>C|c.(3406-3408)Tag>Cag|p.*1136Q|0.29925187032418954|GTTCAATTCTATAATGAAGTT|SLC4A7_ENST00000455077.1_NONSTOP_p.*1132Q/SLC4A7_ENST00000295736.5_NONSTOP_p.*1215Q/SLC4A7_ENST00000428386.1_NONSTOP_p.*1091Q/SLC4A7_ENST00000454389.1_NONSTOP_p.*1260Q/SLC4A7_ENST00000440156.1_NONSTOP_p.*1247Q/SLC4A7_ENST00000445684.1_NONSTOP_p.*1211Q/SLC4A7_ENST00000446700.1_NONSTOP_p.*1207Q/SLC4A7_ENST00000437179.1_NONSTOP_p.*1096Q/SLC4A7_ENST00000388777.4_NONSTOP_p.*801Q/SLC4A7_ENST00000425128.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 36756821 exm298344 A C . PASS FUNCOTATION=[DCLK3|hg19|chr3|36756821|36756821|NONSTOP||SNP|A|A|C|g.chr3:36756821A>C|ENST00000416516.2|-|5|2436|c.1945T>G|c.(1945-1947)Tag>Gag|p.*649E|0.4488778054862843|GGTGGTGACTATGATACCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 37458758 exm299371 A C . PASS FUNCOTATION=[C3orf35|hg19|chr3|37458758|37458758|START_CODON_SNP||SNP|A|A|C|g.chr3:37458758A>C|ENST00000328376.5|+|5|980|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.43640897755610975|CTGAATCCACATGAAAACAAT|C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L/C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L/C3orf35_ENST00000481400.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr3 46450604 exm307756 A C . PASS FUNCOTATION=[CCRL2|hg19|chr3|46450604|46450604|NONSTOP||SNP|A|A|C|g.chr3:46450604A>C|ENST00000399036.3|+|2|1386|c.1034A>C|c.(1033-1035)tAa>tCa|p.*345S|0.4538653366583541|ACCGAAGTGTAAACTAGCATC|CCRL2_ENST00000400882.2_NONSTOP_p.*345S/CCRL2_ENST00000400880.3_NONSTOP_p.*345S/CCRL2_ENST00000357392.4_NONSTOP_p.*357S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr3 46450604 exm307756 A C . PASS FUNCOTATION=[CCRL2|hg19|chr3|46450604|46450604|NONSTOP||SNP|A|A|C|g.chr3:46450604A>C|ENST00000399036.3|+|2|1386|c.1034A>C|c.(1033-1035)tAa>tCa|p.*345S|0.4538653366583541|ACCGAAGTGTAAACTAGCATC|CCRL2_ENST00000400882.2_NONSTOP_p.*345S/CCRL2_ENST00000400880.3_NONSTOP_p.*345S/CCRL2_ENST00000357392.4_NONSTOP_p.*357S/CCRL2_ENST00000441909.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 48369830 exm310825 A G . PASS FUNCOTATION=[SPINK8|hg19|chr3|48369830|48369830|START_CODON_SNP||SNP|A|A|G|g.chr3:48369830A>G|ENST00000434006.1|-|1|2|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3865336658354115|GATCCCCTTCATGGTGACAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr3 48506471 exm311380 C T . PASS FUNCOTATION=[TREX1|hg19|chr3|48506471|48506471|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:48506471C>T|ENST00000296443.9|+|1|||||0.5985037406483791|CCTGATGTGACGGACTGTGAA|ATRIP_ENST00000320211.3_MISSENSE_p.T766M/ATRIP_ENST00000412052.1_MISSENSE_p.T673M/ATRIP_ENST00000346691.4_MISSENSE_p.T739M/ATRIP_ENST00000357105.6_MISSENSE_p.T639M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr3 48506471 exm311380 C T . PASS FUNCOTATION=[TREX1|hg19|chr3|48506471|48506471|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr3:48506471C>T|ENST00000296443.9|+|1|||||0.5985037406483791|CCTGATGTGACGGACTGTGAA|ATRIP_ENST00000320211.3_MISSENSE_p.T766M/ATRIP_ENST00000412052.1_MISSENSE_p.T673M/ATRIP_ENST00000346691.4_MISSENSE_p.T739M/ATRIP_ENST00000357105.6_MISSENSE_p.T639M/TREX1_ENST00000422277.2_FIVE_PRIME_FLANK/TREX1_ENST00000433541.1_FIVE_PRIME_FLANK/TREX1_ENST00000436480.2_FIVE_PRIME_FLANK/TREX1_ENST00000444177.1_FIVE_PRIME_FLANK/TREX1_ENST00000456089.1_FIVE_PRIME_FLANK/TREX1_ENST00000492235.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 49053682 indel.74958 A AT . PASS FUNCOTATION=[DALRD3|hg19|chr3|49053682|49053683|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:49053682_49053683insT|ENST00000440857.1|-|10|1440|c.736_737insA|c.(736-738)ctcfs|p.L246fs|0.5525|CTCTCAAAGAGTGTGGCAAG|DALRD3_ENST00000341949.4_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000313778.5_FRAME_SHIFT_INS_p.L246fs/DALRD3_ENST00000441576.2_FRAME_SHIFT_INS_p.L413fs/DALRD3_ENST00000395462.4_FRAME_SHIFT_INS_p.L246fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 51928908 exm319305 A G . PASS FUNCOTATION=[IQCF1|hg19|chr3|51928908|51928908|NONSTOP||SNP|A|A|G|g.chr3:51928908A>G|ENST00000310914.5|-|4|679|c.616T>C|c.(616-618)Tga>Cga|p.*206R|0.5187032418952618|AGACCACTTCATTCCTTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 57310755 indel.75748 T TA . PASS FUNCOTATION=[ASB14|hg19|chr3|57310755|57310756|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|A|g.chr3:57310755_57310756insA|ENST00000487349.1|-|10|1708|c.1586_1587insT|c.(1585-1587)acafs|p.N530fs|0.3725|GCGAGGGTTTGCTAAAAAGA|ASB14_ENST00000389601.3_SPLICE_SITE_p.N530fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1523,7 +1523,7 @@ chr3 118955888 rs3806698 G A . PASS FUNCOTATION=[B4GALT4|hg19|chr3|118955888|118 chr3 119912256 indel.76783 G GT . PASS FUNCOTATION=[GPR156|hg19|chr3|119912256|119912257|FRAME_SHIFT_INS||INS|-|-|T|g.chr3:119912256_119912257insT|ENST00000464295.1|-|4|695|c.248_249insA|c.(247-249)tccfs|p.S84fs|0.425|ATTGGGACTGGACATCTTCA|GPR156_ENST00000461057.1_FRAME_SHIFT_INS_p.S84fs/GPR156_ENST00000315843.3_FRAME_SHIFT_INS_p.S84fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 120408670 exm341061 T C . PASS FUNCOTATION=[RABL3|hg19|chr3|120408670|120408670|NONSTOP||SNP|T|T|C|g.chr3:120408670T>C|ENST00000273375.3|-|8|741|c.711A>G|c.(709-711)tgA>tgG|p.*237W|0.3740648379052369|TGAGTGTAATTCAGTCATAAT|RABL3_ENST00000483733.1_NONSTOP_p.*213W/RABL3_ENST00000491398.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 122133383 exm2255644 T C . PASS FUNCOTATION=[WDR5B|hg19|chr3|122133383|122133383|SILENT||SNP|T|T|C|g.chr3:122133383T>C|ENST00000330689.4|-|1|1500|c.993A>G|c.(991-993)taA>taG|p.*331*|0.3516209476309227|TTCAAAGGGATTAGTGGTTAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr3 122180151 indel.77008 T TGGGA . PASS FUNCOTATION=[KPNA1|hg19|chr3|122180151|122180152|FRAME_SHIFT_INS||INS|-|-|GGGA|g.chr3:122180151_122180152insGGGA|ENST00000344337.6|-|5|529|c.351_352insTCCC|c.(352-354)attfs|p.I118fs|0.3275|CTTCATCAATAGGAGGGTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr3 122180151 indel.77008 T TGGGA . PASS FUNCOTATION=[KPNA1|hg19|chr3|122180151|122180152|FRAME_SHIFT_INS||INS|-|-|GGGA|g.chr3:122180151_122180152insGGGA|ENST00000344337.6|-|5|529|c.351_352insTCCC|c.(352-354)attfs|p.I118fs|0.3275|CTTCATCAATAGGAGGGTTA|KPNA1_ENST00000466923.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 130394240 exm350511 A T . PASS FUNCOTATION=[COL6A6|hg19|chr3|130394240|130394240|NONSTOP||SNP|A|A|T|g.chr3:130394240A>T|ENST00000358511.6|+|36|6822|c.6791A>T|c.(6790-6792)tAa>tTa|p.*2264L|0.371571072319202|CAACATGATTAAAAAAATGCT|COL6A6_ENST00000453409.2_NONSTOP_p.*2264L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 131102185 exm2255693 G A . PASS FUNCOTATION=[NUDT16|hg19|chr3|131102185|131102185|SILENT||SNP|G|G|A|g.chr3:131102185G>A|ENST00000521288.1|+|3|619|c.588G>A|c.(586-588)taG>taA|p.*196*|0.5087281795511222|CTCATCACTAGAGGCAGCCCT|NUDT16_ENST00000502852.1_THREE_PRIME_UTR/NUDT16_ENST00000359850.3_SILENT_p.*163*/NUDT16_ENST00000537561.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 132075720 exm2038069 T C . PASS FUNCOTATION=[ACPP|hg19|chr3|132075720|132075720|NONSTOP||SNP|T|T|C|g.chr3:132075720T>C|ENST00000475741.1|+|9|1111|c.1060T>C|c.(1060-1062)Tag>Cag|p.*354Q|0.5087281795511222|CAGTACAGATTAGTGTGCACA|ACPP_ENST00000351273.7_INTRON/ACPP_ENST00000336375.5_NONSTOP_p.*387Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1542,7 +1542,7 @@ chr3 158428700 indel.78351 C CT . PASS FUNCOTATION=[RARRES1|hg19|chr3|158428700| chr3 172607362 exm365204 A G . PASS FUNCOTATION=[SPATA16|hg19|chr3|172607362|172607362|NONSTOP||SNP|A|A|G|g.chr3:172607362A>G|ENST00000351008.3|-|11|1892|c.1708T>C|c.(1708-1710)Tag>Cag|p.*570Q|0.3790523690773067|CCTAATGACTACCTTTGCTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 183014766 indel.78803 T TC . PASS FUNCOTATION=[MCF2L2|hg19|chr3|183014766|183014767|FRAME_SHIFT_INS||INS|-|-|C|g.chr3:183014766_183014767insC|ENST00000328913.3|-|12|1793|c.1494_1495insG|c.(1495-1497)aagfs|p.K499fs|0.5275|GCATTACCTTTGCATCGAGG|MCF2L2_ENST00000473233.1_FRAME_SHIFT_INS_p.K499fs/MCF2L2_ENST00000414362.2_FRAME_SHIFT_INS_p.K499fs/MCF2L2_ENST00000447025.2_FRAME_SHIFT_INS_p.K499fs/B3GNT5_ENST00000462559.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 183273440 exm367182 A T . PASS FUNCOTATION=[KLHL6|hg19|chr3|183273440|183273440|START_CODON_SNP||SNP|A|A|T|g.chr3:183273440A>T|ENST00000341319.3|-|1|38|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.5087281795511222|TGCCATCAACATCGAGACTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr3 195960068 exm376334 T C . PASS FUNCOTATION=[SLC51A|hg19|chr3|195960068|195960068|NONSTOP||SNP|T|T|C|g.chr3:195960068T>C|ENST00000296327.5|+|9|1230|c.1021T>C|c.(1021-1023)Taa>Caa|p.*341Q|0.428927680798005|CCTCAAAGCCTAAGGTGGATG|PCYT1A_ENST00000419333.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr3 195960068 exm376334 T C . PASS FUNCOTATION=[SLC51A|hg19|chr3|195960068|195960068|NONSTOP||SNP|T|T|C|g.chr3:195960068T>C|ENST00000296327.5|+|9|1230|c.1021T>C|c.(1021-1023)Taa>Caa|p.*341Q|0.428927680798005|CCTCAAAGCCTAAGGTGGATG|PCYT1A_ENST00000419333.1_INTRON/SLC51A_ENST00000479732.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr3 197260392 indel.79539 CA C . PASS FUNCOTATION=[BDH1|hg19|chr3|197260393|197260393|DE_NOVO_START_OUT_FRAME||DEL|A|A|-|g.chr3:197260393delA|ENST00000441275.1|-|3|||||0.5785536159600998|TCCGACGGCCAATCGGGATAA|BDH1_ENST00000392378.2_FRAME_SHIFT_DEL_p.I41fs/BDH1_ENST00000358186.2_FRAME_SHIFT_DEL_p.I41fs/BDH1_ENST00000392379.1_FRAME_SHIFT_DEL_p.I41fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 2632732 exm2240883 A G . PASS FUNCOTATION=[FAM193A|hg19|chr4|2632732|2632732|START_CODON_SNP||SNP|A|A|G|g.chr4:2632732A>G|ENST00000502458.1|+|3|322|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5960099750623441|TGTGCTGGAGATGAAGGTCCG|FAM193A_ENST00000324666.5_START_CODON_SNP_p.M1V/FAM193A_ENST00000382839.3_START_CODON_SNP_p.M1V/FAM193A_ENST00000505311.1_START_CODON_SNP_p.M1V/FAM193A_ENST00000545951.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 2835561 exm383150 A G . PASS FUNCOTATION=[SH3BP2|hg19|chr4|2835561|2835561|NONSTOP||SNP|A|A|G|g.chr4:2835561A>G|ENST00000356331.5|+|13|1947|c.1686A>G|c.(1684-1686)tgA>tgG|p.*562W|0.6408977556109726|GGCCTAGGTGATGGCAGTCCA|SH3BP2_ENST00000511747.1_NONSTOP_p.*562W/SH3BP2_ENST00000435136.2_NONSTOP_p.*562W/SH3BP2_ENST00000452765.2_NONSTOP_p.*562W/SH3BP2_ENST00000442312.2_NONSTOP_p.*590W/SH3BP2_ENST00000503393.2_NONSTOP_p.*619W|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1557,7 +1557,7 @@ chr4 69093631 variant.81168 A C . PASS FUNCOTATION=[TMPRSS11B|hg19|chr4|69093631 chr4 70513361 exm403696 A G . PASS FUNCOTATION=[UGT2A1|hg19|chr4|70513361|70513361|START_CODON_SNP||SNP|A|A|G|g.chr4:70513361A>G|ENST00000503640.1|-|1|58|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3566084788029925|GTTGTTTAACATGATGTGGCT|UGT2A1_ENST00000514019.1_START_CODON_SNP_p.M1T/UGT2A1_ENST00000512704.1_START_CODON_SNP_p.M1T/UGT2A1_ENST00000286604.4_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 71201943 rs13039 A G . PASS FUNCOTATION=[CABS1|hg19|chr4|71201943|71201943|SILENT||SNP|A|A|G|g.chr4:71201943A>G|ENST00000273936.5|+|1|1261|c.1187A>G|c.(1186-1188)tAa>tGa|p.*396*|0.3690773067331671|TTCATGATTTAAAAGCAACAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 71275790 exm2276910 T C . PASS FUNCOTATION=[PROL1|hg19|chr4|71275790|71275790|NONSTOP||SNP|T|T|C|g.chr4:71275790T>C|ENST00000399575.2|+|3|919|c.745T>C|c.(745-747)Tga>Cga|p.*249R|0.3940149625935162|CATTTTTGGTTGAACATGCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr4 74270123 exm405598 C T . PASS FUNCOTATION=[ALB|hg19|chr4|74270123|74270123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr4:74270123C>T|ENST00000503124.1|+|1|||||0.3192019950124688|TCGAGATGCACGTAAGAAATC|ALB_ENST00000295897.4_SPLICE_SITE_p.H27Y/ALB_ENST00000509063.1_SPLICE_SITE_p.H27Y/ALB_ENST00000401494.3_SPLICE_SITE_p.H27Y/ALB_ENST00000415165.2_SPLICE_SITE_p.H27Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr4 74270123 exm405598 C T . PASS FUNCOTATION=[ALB|hg19|chr4|74270123|74270123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr4:74270123C>T|ENST00000503124.1|+|1|||||0.3192019950124688|TCGAGATGCACGTAAGAAATC|ALB_ENST00000295897.4_SPLICE_SITE_p.H27Y/ALB_ENST00000509063.1_SPLICE_SITE_p.H27Y/ALB_ENST00000401494.3_SPLICE_SITE_p.H27Y/ALB_ENST00000415165.2_SPLICE_SITE_p.H27Y/ALB_ENST00000505649.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 76943085 exm407033 A G . PASS FUNCOTATION=[CXCL10|hg19|chr4|76943085|76943085|NONSTOP||SNP|A|A|G|g.chr4:76943085A>G|ENST00000306602.1|-|4|361|c.295T>C|c.(295-297)Taa>Caa|p.*99Q|0.4164588528678304|CTCTGGTTTTAAGGAGATCTT|ART3_ENST00000341029.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 76955947 exm407044 T A . PASS FUNCOTATION=[CXCL11|hg19|chr4|76955947|76955947|NONSTOP||SNP|T|T|A|g.chr4:76955947T>A|ENST00000503860.1|-|5|663|c.284A>T|c.(283-285)tAa>tTa|p.*95L|0.34663341645885287|TTGATATTTTTAAAAATTCTT|CXCL11_ENST00000306621.3_NONSTOP_p.*95L/ART3_ENST00000341029.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 87812672 exm411464 A G . PASS FUNCOTATION=[C4orf36|hg19|chr4|87812672|87812672|START_CODON_SNP||SNP|A|A|G|g.chr4:87812672A>G|ENST00000473559.1|-|5|666|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.3940149625935162|TCCATACGCCATGGTGAGTTA|C4orf36_ENST00000295898.3_START_CODON_SNP_p.M1T/C4orf36_ENST00000503001.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1572,7 +1572,7 @@ chr4 130032945 exm424717 A G . PASS FUNCOTATION=[C4orf33|hg19|chr4|130032945|130 chr4 144618679 indel.82923 A AC . PASS FUNCOTATION=[FREM3|hg19|chr4|144618679|144618680|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:144618679_144618680insC|ENST00000329798.5|-|1|3150|c.3149_3150insG|c.(3148-3150)aatfs|p.N1050fs|0.4775|TATTATGCTATTCCCCACTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 152212603 exm428580 T G . PASS FUNCOTATION=[PRSS48|hg19|chr4|152212603|152212603|NONSTOP||SNP|T|T|G|g.chr4:152212603T>G|ENST00000455694.2|+|5|987|c.985T>G|c.(985-987)Taa>Gaa|p.*329E|0.42144638403990026|CAGGGGCAGATAACTCACAGG|PRSS48_ENST00000441586.2_NONSTOP_p.*186E/SH3D19_ENST00000604030.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 155407595 exm430189 C A . PASS FUNCOTATION=[DCHS2|hg19|chr4|155407595|155407595|NONSTOP||SNP|C|C|A|g.chr4:155407595C>A|ENST00000456341.2|-|2|2109|c.2109G>T|c.(2107-2109)taG>taT|p.*703Y|0.4139650872817955|TACAGGAAATCTAGGCAAGAT|DCHS2_ENST00000339452.1_INTRON/DCHS2_ENST00000443500.1_NONSTOP_p.*710Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr4 156274490 indel.83213 T TC . PASS FUNCOTATION=[MAP9|hg19|chr4|156274490|156274491|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:156274490_156274491insC|ENST00000311277.4|-|11|1647|c.1382_1383insG|c.(1381-1383)aaafs|p.A463fs|0.2825|AGCAGCTTTTTTCTACAGTG|MAP9_ENST00000515654.1_FRAME_SHIFT_INS_p.A439fs/AC097467.2_ENST00000608463.1_RNA/AC097467.2_ENST00000610249.1_RNA/AC097467.2_ENST00000593387.2_RNA/AC097467.2_ENST00000609716.1_RNA/AC097467.2_ENST00000609486.1_RNA/AC097467.2_ENST00000598252.1_RNA/AC097467.2_ENST00000608544.1_RNA/AC097467.2_ENST00000609254.1_RNA/AC097467.2_ENST00000608092.1_RNA/AC097467.2_ENST00000597939.1_RNA/AC097467.2_ENST00000608406.1_RNA/AC097467.2_ENST00000601977.1_RNA/AC097467.2_ENST00000608762.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr4 156274490 indel.83213 T TC . PASS FUNCOTATION=[MAP9|hg19|chr4|156274490|156274491|FRAME_SHIFT_INS||INS|-|-|C|g.chr4:156274490_156274491insC|ENST00000311277.4|-|11|1647|c.1382_1383insG|c.(1381-1383)aaafs|p.A463fs|0.2825|AGCAGCTTTTTTCTACAGTG|MAP9_ENST00000515654.1_FRAME_SHIFT_INS_p.A439fs/AC097467.2_ENST00000608463.1_RNA/AC097467.2_ENST00000610249.1_RNA/AC097467.2_ENST00000593387.2_RNA/AC097467.2_ENST00000609716.1_RNA/AC097467.2_ENST00000609486.1_RNA/AC097467.2_ENST00000598252.1_RNA/AC097467.2_ENST00000608544.1_RNA/AC097467.2_ENST00000609254.1_RNA/AC097467.2_ENST00000608092.1_RNA/AC097467.2_ENST00000597939.1_RNA/AC097467.2_ENST00000608406.1_RNA/AC097467.2_ENST00000601977.1_RNA/AC097467.2_ENST00000608762.1_RNA/AC097467.2_ENST00000417474.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594492.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000594666.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596165.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000596754.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000597831.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000598890.1_FIVE_PRIME_FLANK/AC097467.2_ENST00000600928.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 169279300 exm433315 A G . PASS FUNCOTATION=[DDX60L|hg19|chr4|169279300|169279300|NONSTOP||SNP|A|A|G|g.chr4:169279300A>G|ENST00000511577.1|-|38|5367|c.5119T>C|c.(5119-5121)Taa>Caa|p.*1707Q|0.2892768079800499|CCATGGTGTTATTCTAAATGA|DDX60L_ENST00000260184.7_NONSTOP_p.*1707Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 184633795 exm436211 T C . PASS FUNCOTATION=[TRAPPC11|hg19|chr4|184633795|184633795|NONSTOP||SNP|T|T|C|g.chr4:184633795T>C|ENST00000334690.6|+|30|3602|c.3400T>C|c.(3400-3402)Tga>Cga|p.*1134R|0.3316708229426434|TGCTGCTGCATGATGTTCAAG|TRAPPC11_ENST00000512476.1_NONSTOP_p.*740R/TRAPPC11_ENST00000357207.4_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 185655214 exm436696 C T . PASS FUNCOTATION=[MLF1IP|hg19|chr4|185655214|185655214|START_CODON_SNP||SNP|C|C|T|g.chr4:185655214C>T|ENST00000281453.5|-|1|74|c.3G>A|c.(1-3)atG>atA|p.M1I|0.7007481296758105|CCCGCGGGGCCATGGTGCCGC|MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1582,7 +1582,7 @@ chr5 36227619 exm450129 T C . PASS FUNCOTATION=[NADK2|hg19|chr5|36227619|3622761 chr5 43388500 exm453467 A T . PASS FUNCOTATION=[CCL28|hg19|chr5|43388500|43388500|START_CODON_SNP||SNP|A|A|T|g.chr5:43388500A>T|ENST00000513525.1|-|2|309|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.4239401496259352|GATGCGACACATATTCACTCT|CCL28_ENST00000361115.4_MISSENSE_p.M48K/CCL28_ENST00000537013.1_MISSENSE_p.M48K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 43656769 indel.84762 G GT . PASS FUNCOTATION=[NNT|hg19|chr5|43656769|43656770|FRAME_SHIFT_INS||INS|-|-|T|g.chr5:43656769_43656770insT|ENST00000264663.5|+|16|2529|c.2308_2309insT|c.(2308-2310)gccfs|p.A770fs|0.415|CTGAAATCTGCCCCTCTCCT|NNT_ENST00000344920.4_FRAME_SHIFT_INS_p.A770fs/NNT_ENST00000512996.2_FRAME_SHIFT_INS_p.A639fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 44809066 exm453799 T C . PASS FUNCOTATION=[MRPS30|hg19|chr5|44809066|44809066|START_CODON_SNP||SNP|T|T|C|g.chr5:44809066T>C|ENST00000507110.1|+|1|40|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5910224438902744|CGGGCAAAGATGGCGGCGGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr5 54329752 indel.84832 TAA T . PASS FUNCOTATION=[GZMK|hg19|chr5|54329753|54329754|NONSTOP||DEL|AA|AA|-|g.chr5:54329753_54329754delAA|ENST00000231009.2|+|5|863_864|c.794_795delAA|c.(793-795)taafs|p.*265fs|0.39800995024875624|CATACAAATTAAGTTACAAATA|CTD-2313F11.1_ENST00000609699.1_RNA/CTD-2313F11.1_ENST00000595218.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr5 54329752 indel.84832 TAA T . PASS FUNCOTATION=[GZMK|hg19|chr5|54329753|54329754|NONSTOP||DEL|AA|AA|-|g.chr5:54329753_54329754delAA|ENST00000231009.2|+|5|863_864|c.794_795delAA|c.(793-795)taafs|p.*265fs|0.39800995024875624|CATACAAATTAAGTTACAAATA|CTD-2313F11.1_ENST00000609699.1_RNA/CTD-2313F11.1_ENST00000595218.1_RNA/CTD-2313F11.1_ENST00000596137.1_FIVE_PRIME_FLANK/CTD-2313F11.1_ENST00000609792.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 76342200 indel.85335 T TA . PASS FUNCOTATION=[AGGF1|hg19|chr5|76342200|76342201|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:76342200_76342201insA|ENST00000312916.7|+|6|1281|c.899_900insA|c.(898-900)ttcfs|p.F300fs|0.3725|AAAAAGCCTTCAGTGTTGAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 94785984 exm467542 T C . PASS FUNCOTATION=[FAM81B|hg19|chr5|94785984|94785984|NONSTOP||SNP|T|T|C|g.chr5:94785984T>C|ENST00000283357.5|+|10|1403|c.1357T>C|c.(1357-1359)Taa>Caa|p.*453Q|0.32418952618453867|CCAGGAAGTATAAACCTTTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 101572564 exm469248 A G . PASS FUNCOTATION=[SLCO4C1|hg19|chr5|101572564|101572564|NONSTOP||SNP|A|A|G|g.chr5:101572564A>G|ENST00000310954.6|-|13|2460|c.2173T>C|c.(2173-2175)Tga>Cga|p.*725R|0.3192019950124688|TTCCCATTTCACCCTTCTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1590,18 +1590,18 @@ chr5 101631965 exm469338 A G . PASS FUNCOTATION=[SLCO4C1|hg19|chr5|101631965|101 chr5 115167503 exm472287 A T . PASS FUNCOTATION=[ATG12|hg19|chr5|115167503|115167503|NONSTOP||SNP|A|A|T|g.chr5:115167503A>T|ENST00000509910.1|-|4|727|c.421T>A|c.(421-423)Tga>Aga|p.*141R|0.34413965087281795|TTTGTGGTTCATCCCCACGCC|ATG12_ENST00000500945.2_THREE_PRIME_UTR/ATG12_ENST00000274459.4_NONSTOP_p.*188R/ATG12_ENST00000509598.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 118860923 indel.86141 C CAA . PASS FUNCOTATION=[HSD17B4|hg19|chr5|118860923|118860924|FRAME_SHIFT_INS||INS|-|-|AA|g.chr5:118860923_118860924insAA|ENST00000515320.1|+|17|1541|c.1462_1463insAA|c.(1462-1464)cgcfs|p.R488fs|0.2975|GCTTTGTACCGCCTCAGTGG|HSD17B4_ENST00000509514.1_FRAME_SHIFT_INS_p.R244fs/HSD17B4_ENST00000256216.6_FRAME_SHIFT_INS_p.R506fs/HSD17B4_ENST00000504811.1_FRAME_SHIFT_INS_p.R531fs/HSD17B4_ENST00000510025.1_FRAME_SHIFT_INS_p.R482fs/HSD17B4_ENST00000414835.2_FRAME_SHIFT_INS_p.R366fs/HSD17B4_ENST00000513628.1_FRAME_SHIFT_INS_p.R369fs/HSD17B4_ENST00000522415.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 121297728 exm473453 A G . PASS FUNCOTATION=[SRFBP1|hg19|chr5|121297728|121297728|START_CODON_SNP||SNP|A|A|G|g.chr5:121297728A>G|ENST00000339397.4|+|1|73|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.57356608478803|TTCATCTACCATGGCTCAGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr5 132208861 rs765760 C T . PASS FUNCOTATION=[LEAP2|hg19|chr5|132208861|132208861|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr5:132208861C>T|ENST00000296877.2|+|1|||||0.4339152119700748|AGCAAGTGGACGATCTGGGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr5 132208861 rs765760 C T . PASS FUNCOTATION=[LEAP2|hg19|chr5|132208861|132208861|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr5:132208861C>T|ENST00000296877.2|+|1|||||0.4339152119700748|AGCAAGTGGACGATCTGGGGA|LEAP2_ENST00000485457.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 135513085 newrs55765823 T TC . PASS FUNCOTATION=[SMAD5|hg19|chr5|135513085|135513086|SPLICE_SITE|FRAME_SHIFT_INS|INS|-|-|C|g.chr5:135513085_135513086insC|ENST00000545279.1|+|8|1674|c.1314_1315insC|c.(1315-1317)cttfs|p.L439fs|0.36|GATTGAGATTATCTTCATGG|SMAD5_ENST00000545620.1_SPLICE_SITE_p.L439fs/SMAD5_ENST00000514641.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 137451371 exm480022 T A . PASS FUNCOTATION=[NME5|hg19|chr5|137451371|137451371|NONSTOP||SNP|T|T|A|g.chr5:137451371T>A|ENST00000265191.2|-|6|688|c.638A>T|c.(637-639)tAa>tTa|p.*213L|0.26433915211970077|ATTTTTTTTTTAATAAGGTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr5 138210895 rs288036 C A . PASS FUNCOTATION=[LRRTM2|hg19|chr5|138210895|138210895|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:138210895C>A|ENST00000518785.1|-|1|||||0.4314214463840399|CTTCAGTCTCCTTTCCGCAGC|LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000518825.1_INTRON/LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000302763.7_INTRON/CTNNA1_ENST00000355078.5_INTRON/CTNNA1_ENST00000520400.1_INTRON/LRRTM2_ENST00000523537.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr5 138210895 rs288036 C A . PASS FUNCOTATION=[LRRTM2|hg19|chr5|138210895|138210895|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:138210895C>A|ENST00000518785.1|-|1|||||0.4314214463840399|CTTCAGTCTCCTTTCCGCAGC|LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000518825.1_INTRON/LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME/CTNNA1_ENST00000302763.7_INTRON/CTNNA1_ENST00000355078.5_INTRON/CTNNA1_ENST00000540387.1_FIVE_PRIME_FLANK/CTNNA1_ENST00000520400.1_INTRON/LRRTM2_ENST00000523537.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 139508064 exm481924 G A . PASS FUNCOTATION=[IGIP|hg19|chr5|139508064|139508064|START_CODON_SNP||SNP|G|G|A|g.chr5:139508064G>A|ENST00000333305.3|+|1|2544|c.3G>A|c.(1-3)atG>atA|p.M1I|0.35910224438902744|TATTAAATATGTGCAGTTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 140213970 exm484005 T G . PASS FUNCOTATION=[PCDHA7|hg19|chr5|140213970|140213970|START_CODON_SNP||SNP|T|T|G|g.chr5:140213970T>G|ENST00000525929.1|+|1|2|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5087281795511222|TAATTTGAAATGGTGTGCCCG|PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA6_ENST00000527624.1_INTRON/PCDHA7_ENST00000378125.3_SPLICE_SITE_p.M1R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 140255770 indel.86893 A AC . PASS FUNCOTATION=[PCDHA12|hg19|chr5|140255770|140255771|FRAME_SHIFT_INS||INS|-|-|C|g.chr5:140255770_140255771insC|ENST00000398631.2|+|1|713|c.713_714insC|c.(712-714)aatfs|p.G239fs|0.3675|TGAATGACAATGGTCCGGCG|PCDHA9_ENST00000532602.1_INTRON/PCDHA6_ENST00000529310.1_INTRON/PCDHA3_ENST00000522353.2_INTRON/PCDHA8_ENST00000531613.1_INTRON/PCDHA11_ENST00000398640.2_INTRON/PCDHA10_ENST00000307360.5_INTRON/PCDHA2_ENST00000526136.1_INTRON/PCDHA4_ENST00000530339.1_INTRON/PCDHA7_ENST00000525929.1_INTRON/PCDHA5_ENST00000529859.1_INTRON/PCDHA1_ENST00000504120.2_INTRON/PCDHA1_ENST00000394633.3_INTRON/PCDHA4_ENST00000512229.2_INTRON/PCDHA5_ENST00000529619.1_INTRON/PCDHA10_ENST00000506939.2_INTRON/PCDHA6_ENST00000527624.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 140503900 indel.86950 T TG . PASS FUNCOTATION=[PCDHB4|hg19|chr5|140503900|140503901|FRAME_SHIFT_INS||INS|-|-|G|g.chr5:140503900_140503901insG|ENST00000194152.1|+|1|2320|c.2320_2321insG|c.(2320-2322)ttgfs|p.L774fs|0.4975|CCTAATCTCTTGGTTCAGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 140529841 exm2089280 G A . PASS FUNCOTATION=[PCDHB6|hg19|chr5|140529841|140529841|START_CODON_SNP||SNP|G|G|A|g.chr5:140529841G>A|ENST00000231136.1|+|1|3|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4613466334164589|TAATAGACATGATGCAAACTA|PCDHB6_ENST00000543635.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 140596092 exm487247 A G . PASS FUNCOTATION=[PCDHB13|hg19|chr5|140596092|140596092|NONSTOP||SNP|A|A|G|g.chr5:140596092A>G|ENST00000341948.4|+|1|2584|c.2397A>G|c.(2395-2397)tgA>tgG|p.*799W|0.41895261845386533|ATATTCAGTGACCATAGTTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr5 142814699 kgp22176342 A C . PASS FUNCOTATION=[NR3C1|hg19|chr5|142814699|142814699|DE_NOVO_START_IN_FRAME||SNP|A|A|C|g.chr5:142814699A>C|ENST00000343796.2|-|1|||||0.428927680798005|AAACTAAATGAATGCGTGCAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr5 142815041 kgp22485205 C A . PASS FUNCOTATION=[NR3C1|hg19|chr5|142815041|142815041|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:142815041C>A|ENST00000343796.2|-|1|||||0.4114713216957606|GAAGAGGTACCTTTTGAATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr5 142814699 kgp22176342 A C . PASS FUNCOTATION=[NR3C1|hg19|chr5|142814699|142814699|DE_NOVO_START_IN_FRAME||SNP|A|A|C|g.chr5:142814699A>C|ENST00000343796.2|-|1|||||0.428927680798005|AAACTAAATGAATGCGTGCAT|NR3C1_ENST00000504572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr5 142815041 kgp22485205 C A . PASS FUNCOTATION=[NR3C1|hg19|chr5|142815041|142815041|DE_NOVO_START_OUT_FRAME||SNP|C|C|A|g.chr5:142815041C>A|ENST00000343796.2|-|1|||||0.4114713216957606|GAAGAGGTACCTTTTGAATGG|NR3C1_ENST00000504572.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 147665609 exm492891 T C . PASS FUNCOTATION=[SPINK13|hg19|chr5|147665609|147665609|NONSTOP||SNP|T|T|C|g.chr5:147665609T>C|ENST00000512953.1|+|6|814|c.283T>C|c.(283-285)Taa>Caa|p.*95Q|0.2892768079800499|AAAATGTGATTAATGGGTACC|SPINK13_ENST00000511106.1_NONSTOP_p.*55Q/SPINK13_ENST00000398450.4_NONSTOP_p.*95Q/RP11-373N22.3_ENST00000501695.3_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 153409127 indel.87683 G GA . PASS FUNCOTATION=[FAM114A2|hg19|chr5|153409127|153409128|FRAME_SHIFT_INS||INS|-|-|A|g.chr5:153409127_153409128insA|ENST00000351797.4|-|5|494|c.416_417insT|c.(415-417)gccfs|p.K140fs|0.3875|ATTCTCTTTGGCATTTGTCT|FAM114A2_ENST00000522858.1_FRAME_SHIFT_INS_p.K140fs/FAM114A2_ENST00000520667.1_FRAME_SHIFT_INS_p.K140fs/FAM114A2_ENST00000520313.1_FRAME_SHIFT_INS_p.K70fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr5 169675703 exm2094972 A G . PASS FUNCOTATION=[LCP2|hg19|chr5|169675703|169675703|NONSTOP||SNP|A|A|G|g.chr5:169675703A>G|ENST00000046794.5|-|21|2216|c.1600T>C|c.(1600-1602)Tag>Cag|p.*534Q|0.4114713216957606|ATAACTTGCTATGGGTACCCT|LCP2_ENST00000521416.1_NONSTOP_p.*329Q/C5orf58_ENST00000517575.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1619,17 +1619,17 @@ chr6 26216869 exm2118836 C A . PASS FUNCOTATION=[HIST1H2BG|hg19|chr6|26216869|26 chr6 27114910 exm523525 G A . PASS FUNCOTATION=[HIST1H2AH|hg19|chr6|27114910|27114910|START_CODON_SNP||SNP|G|G|A|g.chr6:27114910G>A|ENST00000377459.1|+|1|50|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5361596009975063|TGACCAGTATGTCTGGACGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 28056967 indel.89354 A AC . PASS FUNCOTATION=[ZNF165|hg19|chr6|28056967|28056968|FRAME_SHIFT_INS||INS|-|-|C|g.chr6:28056967_28056968insC|ENST00000377325.1|+|4|1733|c.1177_1178insC|c.(1177-1179)attfs|p.I393fs|0.435|CATCGGCGAATTCACACTGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 29795623 exm526510 T C . PASS FUNCOTATION=[HLA-G|hg19|chr6|29795623|29795623|START_CODON_SNP||SNP|T|T|C|g.chr6:29795623T>C|ENST00000360323.6|+|1|26|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6758104738154613|ACGCCAAGGATGGTGGTCATG|HLA-G_ENST00000376828.2_MISSENSE_p.M6T/HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T/HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr6 30080582 exm527119 T C . PASS FUNCOTATION=[TRIM31|hg19|chr6|30080582|30080582|START_CODON_SNP||SNP|T|T|C|g.chr6:30080582T>C|ENST00000376734.3|-|2|127|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46633416458852867|CCACTGGCCATGACAGAACAA|TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V/TRIM31-AS1_ENST00000440874.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr6 30080582 exm527119 T C . PASS FUNCOTATION=[TRIM31|hg19|chr6|30080582|30080582|START_CODON_SNP||SNP|T|T|C|g.chr6:30080582T>C|ENST00000376734.3|-|2|127|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.46633416458852867|CCACTGGCCATGACAGAACAA|TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V/TRIM31_ENST00000485864.1_FIVE_PRIME_FLANK/TRIM31-AS1_ENST00000440874.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 31828246 indel.89874 C CCT . PASS FUNCOTATION=[NEU1|hg19|chr6|31828246|31828247|FRAME_SHIFT_INS||INS|-|-|CT|g.chr6:31828246_31828247insCT|ENST00000375631.4|-|4|898|c.767_768insAG|c.(766-768)cagfs|p.E257fs|0.5925|ATCATTTTCCTGCTTGGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 32731258 exm-rs1573649 G A . PASS FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 32731258 rs1573649 G A . PASS FUNCOTATION=[HLA-DQB2|hg19|chr6|32731258|32731258|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr6:32731258G>A|ENST00000437316.2|-|1|||||0.5236907730673317|CTTCCAAGACGTAAGTGAGAC|HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME/HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr6 33172446 exm537955 A G . PASS FUNCOTATION=[HSD17B8|hg19|chr6|33172446|33172446|START_CODON_SNP||SNP|A|A|G|g.chr6:33172446A>G|ENST00000374662.3|+|1|28|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6658354114713217|ACAGCCCGCCATGGCGTCTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr6 33172446 exm537955 A G . PASS FUNCOTATION=[HSD17B8|hg19|chr6|33172446|33172446|START_CODON_SNP||SNP|A|A|G|g.chr6:33172446A>G|ENST00000374662.3|+|1|28|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6658354114713217|ACAGCCCGCCATGGCGTCTCA|HSD17B8_ENST00000469186.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 39554075 indel.90611 T TGC . PASS FUNCOTATION=[KIF6|hg19|chr6|39554075|39554076|FRAME_SHIFT_INS||INS|-|-|GC|g.chr6:39554075_39554076insGC|ENST00000287152.7|-|8|1047|c.951_952insGC|c.(952-954)atgfs|p.M318fs|0.425|TTGCAATCATAGTTGTCATG|KIF6_ENST00000373215.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373216.3_FRAME_SHIFT_INS_p.M318fs/KIF6_ENST00000373213.4_FRAME_SHIFT_INS_p.M157fs/KIF6_ENST00000538893.1_FRAME_SHIFT_INS_p.M318fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 42713809 exm547280 C T . PASS FUNCOTATION=[TBCC|hg19|chr6|42713809|42713809|START_CODON_SNP||SNP|C|C|T|g.chr6:42713809C>T|ENST00000372876.1|-|1|26|c.3G>A|c.(1-3)atG>atA|p.M1I|0.5960099750623441|TGACGGACTCCATATTGGCTT|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 42713810 exm547281 A C . PASS FUNCOTATION=[TBCC|hg19|chr6|42713810|42713810|START_CODON_SNP||SNP|A|A|C|g.chr6:42713810A>C|ENST00000372876.1|-|1|25|c.2T>G|c.(1-3)aTg>aGg|p.M1R|0.5935162094763092|GACGGACTCCATATTGGCTTC|TBCC_ENST00000244625.2_START_CODON_SNP_p.M1R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 42858524 exm547465 C T . PASS FUNCOTATION=[C6orf226|hg19|chr6|42858524|42858524|START_CODON_SNP||SNP|C|C|T|g.chr6:42858524C>T|ENST00000408925.2|-|1|31|c.3G>A|c.(1-3)atG>atA|p.M1I|0.6533665835411472|GGGGACGCTCCATGTCGGGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 49604523 newrs121918588 C A . PASS FUNCOTATION=[RHAG|hg19|chr6|49604523|49604523|START_CODON_SNP||SNP|C|C|A|g.chr6:49604523C>A|ENST00000371175.4|-|1|30|c.3G>T|c.(1-3)atG>atT|p.M1I|0.41895261845386533|ATGTGAACCTCATGTTTGTGG|RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr6 52285209 exm555450 A G . PASS FUNCOTATION=[EFHC1|hg19|chr6|52285209|52285209|START_CODON_SNP||SNP|A|A|G|g.chr6:52285209A>G|ENST00000371068.5|+|1|104|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|ACCGGCTGCAATGGTGTCCAA|EFHC1_ENST00000433625.2_FIVE_PRIME_UTR/EFHC1_ENST00000491749.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr6 52285209 exm555450 A G . PASS FUNCOTATION=[EFHC1|hg19|chr6|52285209|52285209|START_CODON_SNP||SNP|A|A|G|g.chr6:52285209A>G|ENST00000371068.5|+|1|104|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|ACCGGCTGCAATGGTGTCCAA|EFHC1_ENST00000433625.2_FIVE_PRIME_UTR/EFHC1_ENST00000538167.1_FIVE_PRIME_FLANK/EFHC1_ENST00000491749.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 76782204 exm562176 A T . PASS FUNCOTATION=[IMPG1|hg19|chr6|76782204|76782204|START_CODON_SNP||SNP|A|A|T|g.chr6:76782204A>T|ENST00000369950.3|-|1|192|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.3167082294264339|TTCCAAATACATTCTGGCTTT|IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 84567107 exm563671 A C . PASS FUNCOTATION=[RIPPLY2|hg19|chr6|84567107|84567107|NONSTOP||SNP|A|A|C|g.chr6:84567107A>C|ENST00000369689.1|+|4|537|c.386A>C|c.(385-387)tAa>tCa|p.*129S|0.2793017456359102|TGTGAAAATTAATCTGATTAG|RIPPLY2_ENST00000369687.1_NONSTOP_p.*71S|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 88255394 var_6_88255394 CTTT C . PASS FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894] @@ -1637,22 +1637,22 @@ chr6 109954114 exm571178 T A . PASS FUNCOTATION=[AK9|hg19|chr6|109954114|1099541 chr6 117249986 indel.92725 C CA . PASS FUNCOTATION=[RFX6|hg19|chr6|117249986|117249987|FRAME_SHIFT_INS||INS|-|-|A|g.chr6:117249986_117249987insA|ENST00000332958.2|+|18|2479|c.2463_2464insA|c.(2464-2466)gttfs|p.V822fs|0.3925|GAATCAGCACGTTTCTGTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 132874859 exm579084 A G . PASS FUNCOTATION=[TAAR8|hg19|chr6|132874859|132874859|SPLICE_SITE|SILENT|SNP|A|A|G|g.chr6:132874859A>G|ENST00000275200.1|+|1|1028|c.1028A>G|c.(1027-1029)tAa>tGa|p.*343*|0.26184538653366585|TTTTTAGAATAAGTTTAAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 133004281 exm579323 A G . PASS FUNCOTATION=[VNN1|hg19|chr6|133004281|133004281|NONSTOP||SNP|A|A|G|g.chr6:133004281A>G|ENST00000367928.4|-|7|1554|c.1540T>C|c.(1540-1542)Tag>Cag|p.*514Q|0.32418952618453867|TCAATATTCTACCAACTTAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr6 136603803 kgp16927569 A C . PASS FUNCOTATION=[BCLAF1|hg19|chr6|136603803|136603803|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr6:136603803A>C|ENST00000531224.1|-|2|||||0.3092269326683292|TGCTCTGAGAAATTAAACTCT|BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr6 136603803 kgp16927569 A C . PASS FUNCOTATION=[BCLAF1|hg19|chr6|136603803|136603803|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chr6:136603803A>C|ENST00000531224.1|-|2|||||0.3092269326683292|TGCTCTGAGAAATTAAACTCT|BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME/BCLAF1_ENST00000392348.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 149721528 exm585306 A G . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721528|149721528|START_CODON_SNP||SNP|A|A|G|g.chr6:149721528A>G|ENST00000326669.4|+|1|34|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.5411471321695761|GGTGTTCACCATGGCCAACGA|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 149721529 exm585307 T C . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721529|149721529|START_CODON_SNP||SNP|T|T|C|g.chr6:149721529T>C|ENST00000326669.4|+|1|35|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.5411471321695761|GTGTTCACCATGGCCAACGAA|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 149721815 exm585324 A G . PASS FUNCOTATION=[SUMO4|hg19|chr6|149721815|149721815|NONSTOP||SNP|A|A|G|g.chr6:149721815A>G|ENST00000326669.4|+|1|321|c.288A>G|c.(286-288)tgA>tgG|p.*96W|0.39650872817955113|GTGTCTACTGAAAAGGGAACC|TAB2_ENST00000367456.1_INTRON/TAB2_ENST00000538427.1_INTRON/TAB2_ENST00000286332.5_INTRON/TAB2_ENST00000536230.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 160241547 exm2243431 T C . PASS FUNCOTATION=[PNLDC1|hg19|chr6|160241547|160241547|NONSTOP||SNP|T|T|C|g.chr6:160241547T>C|ENST00000392167.3|+|19|1628|c.1594T>C|c.(1594-1596)Tga>Cga|p.*532R|0.5336658354114713|ATCTGGTACCTGAGTGCAGCG|PNLDC1_ENST00000610273.1_NONSTOP_p.*521R|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 166308924 rs10806835 G A . PASS FUNCOTATION=[SDIM1|hg19|chr6|166308924|166308924|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr6:166308924G>A|ENST00000545867.1|-|1|||||0.5411471321695761|AGGATCCTCCGTGGTGGCTTT|PDE10A_ENST00000535229.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 20685486 indel.94825 G GA . PASS FUNCOTATION=[ABCB5|hg19|chr7|20685486|20685487|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:20685486_20685487insA|ENST00000404938.2|+|8|1438|c.786_787insA|c.(787-789)gagfs|p.E263fs|0.3725|TAGGGCCCAGGAGAAAGAAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 20685486 indel.94825 G GA . PASS FUNCOTATION=[ABCB5|hg19|chr7|20685486|20685487|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:20685486_20685487insA|ENST00000404938.2|+|8|1438|c.786_787insA|c.(787-789)gagfs|p.E263fs|0.3725|TAGGGCCCAGGAGAAAGAAC|ABCB5_ENST00000258738.6_FIVE_PRIME_FLANK/ABCB5_ENST00000406935.1_FIVE_PRIME_FLANK/ABCB5_ENST00000443026.2_FIVE_PRIME_FLANK/ABCB5_ENST00000477094.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 23338972 exm609536 A G . PASS FUNCOTATION=[MALSU1|hg19|chr7|23338972|23338972|START_CODON_SNP||SNP|A|A|G|g.chr7:23338972A>G|ENST00000466681.1|+|1|154|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6708229426433915|GGCTGCTGCTATGGGGCCGGG|MALSU1_ENST00000479974.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 23749905 exm609783 A T . PASS FUNCOTATION=[STK31|hg19|chr7|23749905|23749905|START_CODON_SNP||SNP|A|A|T|g.chr7:23749905A>T|ENST00000355870.3|+|1|120|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.6234413965087282|AAAGTCCAGTATGTGGGTCCA|STK31_ENST00000433467.2_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 27181455 indel.95055 CAG C . PASS FUNCOTATION=[HOXA5|hg19|chr7|27181456|27181457|NONSTOP||DEL|AG|AG|-|g.chr7:27181456_27181457delAG|ENST00000222726.3|-|2|873_874|c.810_811delCT|c.(808-810)cccfs|p.*271fs|0.4651741293532338|TCAGATACTCAGGGACGGAAGG|RP1-170O19.22_ENST00000467897.2_RNA/HOXA-AS3_ENST00000521197.1_RNA/HOXA-AS3_ENST00000518848.1_RNA/HOXA5_ENST00000520854.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 23749905 exm609783 A T . PASS FUNCOTATION=[STK31|hg19|chr7|23749905|23749905|START_CODON_SNP||SNP|A|A|T|g.chr7:23749905A>T|ENST00000355870.3|+|1|120|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.6234413965087282|AAAGTCCAGTATGTGGGTCCA|STK31_ENST00000433467.2_START_CODON_SNP_p.M1L/STK31_ENST00000354639.3_FIVE_PRIME_FLANK/STK31_ENST00000428484.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 27181455 indel.95055 CAG C . PASS FUNCOTATION=[HOXA5|hg19|chr7|27181456|27181457|NONSTOP||DEL|AG|AG|-|g.chr7:27181456_27181457delAG|ENST00000222726.3|-|2|873_874|c.810_811delCT|c.(808-810)cccfs|p.*271fs|0.4651741293532338|TCAGATACTCAGGGACGGAAGG|HOXA3_ENST00000521401.1_FIVE_PRIME_FLANK/RP1-170O19.22_ENST00000467897.2_RNA/HOXA-AS3_ENST00000521197.1_RNA/HOXA-AS3_ENST00000518848.1_RNA/HOXA5_ENST00000520854.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 33134847 var_7_33134847 CA C . PASS FUNCOTATION=[RP9|hg19|chr7|33134848|33134848|NONSTOP||DEL|A|A|-|g.chr7:33134848delA|ENST00000297157.3|-|6|683|c.664delT|c.(664-666)tgafs|p.*222fs|0.4488778054862843|CATCCTTGTCACTCTGAGTCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 48278997 indel.95654 C CGGTA . PASS FUNCOTATION=[ABCA13|hg19|chr7|48278997|48278998|FRAME_SHIFT_INS||INS|-|-|GGTA|g.chr7:48278997_48278998insGGTA|ENST00000435803.1|+|9|1081|c.1057_1058insGGTA|c.(1057-1059)caafs|p.Q353fs|0.495|CGAGTCTACCAACAGGTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 54610426 exm621856 G A . PASS FUNCOTATION=[VSTM2A|hg19|chr7|54610426|54610426|START_CODON_SNP||SNP|G|G|A|g.chr7:54610426G>A|ENST00000404951.1|+|1|318|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4837905236907731|TTTTTGGAATGATGGGGATCT|VSTM2A_ENST00000407838.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000302287.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402613.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402026.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 64453403 exm623577 A T . PASS FUNCOTATION=[ERV3-1|hg19|chr7|64453403|64453403|START_CODON_SNP||SNP|A|A|T|g.chr7:64453403A>T|ENST00000394323.2|-|2|503|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.46384039900249374|CATACCCAGCATGGACAGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 73442483 seq_chr7_73442483 G T . PASS FUNCOTATION=[ELN|hg19|chr7|73442483|73442483|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr7:73442483G>T|ENST00000252034.7|+|1|||||0.683291770573566|GATAAAACGAGGTGCGGAGAG|ELN_ENST00000414324.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000320492.7_DE_NOVO_START_IN_FRAME/ELN_ENST00000445912.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000380562.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000358929.4_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 75932030 exm628281 A C . PASS FUNCOTATION=[HSPB1|hg19|chr7|75932030|75932030|START_CODON_SNP||SNP|A|A|C|g.chr7:75932030A>C|ENST00000248553.6|+|1|170|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6783042394014963|GTCAGCCAGCATGACCGAGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 54610426 exm621856 G A . PASS FUNCOTATION=[VSTM2A|hg19|chr7|54610426|54610426|START_CODON_SNP||SNP|G|G|A|g.chr7:54610426G>A|ENST00000404951.1|+|1|318|c.3G>A|c.(1-3)atG>atA|p.M1I|0.4837905236907731|TTTTTGGAATGATGGGGATCT|VSTM2A_ENST00000407838.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000302287.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402613.3_START_CODON_SNP_p.M1I/VSTM2A_ENST00000402026.2_FIVE_PRIME_UTR/VSTM2A_ENST00000498834.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 64453403 exm623577 A T . PASS FUNCOTATION=[ERV3-1|hg19|chr7|64453403|64453403|START_CODON_SNP||SNP|A|A|T|g.chr7:64453403A>T|ENST00000394323.2|-|2|503|c.2T>A|c.(1-3)aTg>aAg|p.M1K|0.46384039900249374|CATACCCAGCATGGACAGAAA|ZNF117_ENST00000282869.6_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 73442483 seq_chr7_73442483 G T . PASS FUNCOTATION=[ELN|hg19|chr7|73442483|73442483|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr7:73442483G>T|ENST00000252034.7|+|1|||||0.683291770573566|GATAAAACGAGGTGCGGAGAG|ELN_ENST00000414324.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000320492.7_DE_NOVO_START_IN_FRAME/ELN_ENST00000445912.1_DE_NOVO_START_IN_FRAME/ELN_ENST00000380562.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000358929.4_DE_NOVO_START_IN_FRAME/ELN_ENST00000320399.6_FIVE_PRIME_FLANK/ELN_ENST00000357036.5_FIVE_PRIME_FLANK/ELN_ENST00000380553.4_FIVE_PRIME_FLANK/ELN_ENST00000380575.4_FIVE_PRIME_FLANK/ELN_ENST00000380576.5_FIVE_PRIME_FLANK/ELN_ENST00000380584.4_FIVE_PRIME_FLANK/ELN_ENST00000429192.1_FIVE_PRIME_FLANK/ELN_ENST00000458204.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 75932030 exm628281 A C . PASS FUNCOTATION=[HSPB1|hg19|chr7|75932030|75932030|START_CODON_SNP||SNP|A|A|C|g.chr7:75932030A>C|ENST00000248553.6|+|1|170|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.6783042394014963|GTCAGCCAGCATGACCGAGCG|HSPB1_ENST00000429938.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 93551452 exm634970 G C . PASS FUNCOTATION=[GNG11|hg19|chr7|93551452|93551452|START_CODON_SNP||SNP|G|G|C|g.chr7:93551452G>C|ENST00000248564.5|+|1|442|c.3G>C|c.(1-3)atG>atC|p.M1I|0.5561097256857855|GGGCGAAAATGCCTGCCCTTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 99264234 indel.96884 T TA . PASS FUNCOTATION=[CYP3A5|hg19|chr7|99264234|99264235|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:99264234_99264235insA|ENST00000222982.4|-|6|611|c.510_511insT|c.(511-513)accfs|p.T171fs|0.5025|CTTTCAAGGTGACAGGCTTG|CYP3A5_ENST00000343703.5_FRAME_SHIFT_INS_p.T161fs/CYP3A5_ENST00000339843.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 99514391 indel.96936 A AC . PASS FUNCOTATION=[TRIM4|hg19|chr7|99514391|99514392|FRAME_SHIFT_INS||INS|-|-|C|g.chr7:99514391_99514392insC|ENST00000355947.2|-|2|535|c.404_405insG|c.(403-405)tttfs|p.F135fs|0.4375|GTGGATGTCAAAGTTACCTG|TRIM4_ENST00000349062.2_INTRON/TRIM4_ENST00000354241.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1662,16 +1662,16 @@ chr7 100486464 exm643029 T G . PASS FUNCOTATION=[UFSP1|hg19|chr7|100486464|10048 chr7 102524676 indel.97387 C CA . PASS FUNCOTATION=[FBXL13|hg19|chr7|102524676|102524677|FRAME_SHIFT_INS||INS|-|-|A|g.chr7:102524676_102524677insA|ENST00000313221.4|-|12|1519|c.1091_1092insT|c.(1090-1092)acgfs|p.D365fs|0.32|ACAGTTGTCCGTCAGAGTTG|FBXL13_ENST00000436908.1_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000393772.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379308.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379305.3_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000455112.2_FRAME_SHIFT_INS_p.D365fs/FBXL13_ENST00000379306.3_INTRON/FBXL13_ENST00000456695.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 112424910 variant.97734 G A . PASS FUNCOTATION=[TMEM168|hg19|chr7|112424910|112424910|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr7:112424910G>A|ENST00000312814.6|-|2|||||0.3167082294264339|TTTCCCTCACGTTACAAAAAT|TMEM168_ENST00000454074.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 122338970 exm653867 C T . PASS FUNCOTATION=[RNF133|hg19|chr7|122338970|122338970|START_CODON_SNP||SNP|C|C|T|g.chr7:122338970C>T|ENST00000340112.2|-|1|241|c.3G>A|c.(1-3)atG>atA|p.M1I|0.3865336658354115|TGAGTAGATGCATCTCTCTCT|CADPS2_ENST00000412584.2_INTRON/CADPS2_ENST00000449022.2_INTRON/CADPS2_ENST00000334010.7_INTRON/CADPS2_ENST00000313070.7_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 123197849 exm654183 T G . PASS FUNCOTATION=[NDUFA5|hg19|chr7|123197849|123197849|START_CODON_SNP||SNP|T|T|G|g.chr7:123197849T>G|ENST00000355749.2|-|1|461|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5635910224438903|ACACCCGCCATGACAGCGCCA|NDUFA5_ENST00000467117.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 123197849 exm654183 T G . PASS FUNCOTATION=[NDUFA5|hg19|chr7|123197849|123197849|START_CODON_SNP||SNP|T|T|G|g.chr7:123197849T>G|ENST00000355749.2|-|1|461|c.1A>C|c.(1-3)Atg>Ctg|p.M1L|0.5635910224438903|ACACCCGCCATGACAGCGCCA|NDUFA5_ENST00000471770.1_FIVE_PRIME_FLANK/NDUFA5_ENST00000467117.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 138711291 exm661303 T A . PASS FUNCOTATION=[ZC3HAV1L|hg19|chr7|138711291|138711291|NONSTOP||SNP|T|T|A|g.chr7:138711291T>A|ENST00000275766.1|-|5|914|c.902A>T|c.(901-903)tAa>tTa|p.*301L|0.456359102244389|CCATCTTCTTTACTTCTCGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 143748430 exm666951 A G . PASS FUNCOTATION=[OR2A5|hg19|chr7|143748430|143748430|NONSTOP||SNP|A|A|G|g.chr7:143748430A>G|ENST00000408906.2|+|1|970|c.936A>G|c.(934-936)tgA>tgG|p.*312W|0.48877805486284287|GATCAAAGTGAGGGATGCCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 143771791 indel.98888 T TTAAC . PASS FUNCOTATION=[OR2A25|hg19|chr7|143771791|143771792|FRAME_SHIFT_INS||INS|-|-|TAAC|g.chr7:143771791_143771792insTAAC|ENST00000408898.2|+|1|517|c.479_480insTAAC|c.(478-480)gtgfs|p.L161fs|0.4525|TCCATCTAGTGTTACTGCTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 150434689 exm671051 C T . PASS FUNCOTATION=[GIMAP5|hg19|chr7|150434689|150434689|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr7:150434689C>T|ENST00000358647.3|+|1|||||0.5361596009975063|CGCACACAGACGCAGAGCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr7 150434689 exm671051 C T . PASS FUNCOTATION=[GIMAP5|hg19|chr7|150434689|150434689|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr7:150434689C>T|ENST00000358647.3|+|1|||||0.5361596009975063|CGCACACAGACGCAGAGCAGG|GIMAP5_ENST00000479556.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 154863078 exm2144851 G A . PASS FUNCOTATION=[HTR5A-AS1|hg19|chr7|154863078|154863078|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr7:154863078G>A|ENST00000395731.2|-|1|||||0.6384039900249376|CCGCAAGTGCGTCTCCAACGT|HTR5A_ENST00000287907.2_MISSENSE_p.V157I/HTR5A-AS1_ENST00000543018.1_DE_NOVO_START_IN_FRAME/HTR5A-AS1_ENST00000493904.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr7 155755336 rs7807731 C T . PASS FUNCOTATION=[AC021218.2|hg19|chr7|155755336|155755336|DE_NOVO_START_IN_FRAME||SNP|C|C|T|g.chr7:155755336C>T|ENST00000377722.2|+|1|||||0.5037406483790524|TTTAGGAGCACGGGTACTACT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr8 6614907 exm679475 T C . PASS FUNCOTATION=[AGPAT5|hg19|chr8|6614907|6614907|NONSTOP||SNP|T|T|C|g.chr8:6614907T>C|ENST00000285518.6|+|8|1405|c.1093T>C|c.(1093-1095)Tag>Cag|p.*365Q|0.3940149625935162|TATTAAAGCATAGACAAGTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr8 10464405 exm2160034 C G . PASS FUNCOTATION=[RP1L1|hg19|chr8|10464405|10464405|NONSTOP||SNP|C|C|G|g.chr8:10464405C>G|ENST00000382483.3|-|4|7427|c.7203G>C|c.(7201-7203)taG>taC|p.*2401Y|0.516209476309227|TTGATCTTGTCTAGAAATCTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr8 18076998 variant.99838 G T . PASS FUNCOTATION=[NAT1|hg19|chr8|18076998|18076998|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr8:18076998G>T|ENST00000517492.1|+|2|||||0.3690773067331671|TACTAAGAAAGGTATTAAGGG|NAT1_ENST00000518029.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000535084.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000541942.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000307719.4_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000539092.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000545197.1_SPLICE_SITE_p.K60N/NAT1_ENST00000517441.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr8 18076998 variant.99838 G T . PASS FUNCOTATION=[NAT1|hg19|chr8|18076998|18076998|DE_NOVO_START_OUT_FRAME||SNP|G|G|T|g.chr8:18076998G>T|ENST00000517492.1|+|2|||||0.3690773067331671|TACTAAGAAAGGTATTAAGGG|NAT1_ENST00000518029.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000535084.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000541942.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000307719.4_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000539092.1_DE_NOVO_START_OUT_FRAME/NAT1_ENST00000545197.1_SPLICE_SITE_p.K60N/NAT1_ENST00000520546.1_FIVE_PRIME_FLANK/NAT1_ENST00000517441.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr8 18258384 exm685706 T G . PASS FUNCOTATION=[NAT2|hg19|chr8|18258384|18258384|NONSTOP||SNP|T|T|G|g.chr8:18258384T>G|ENST00000286479.3|+|2|978|c.871T>G|c.(871-873)Tag>Gag|p.*291E|0.3491271820448878|CCTTACTATTTAGAATAAGGA|NAT2_ENST00000520116.1_NONSTOP_p.*161E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr8 22995385 exm689245 A G . PASS FUNCOTATION=[TNFRSF10D|hg19|chr8|22995385|22995385|NONSTOP||SNP|A|A|G|g.chr8:22995385A>G|ENST00000312584.3|-|9|1254|c.1159T>C|c.(1159-1161)Tga>Cga|p.*387R|0.47381546134663344|AGATTCTTTCACAGGCAGGAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr8 23049208 exm689342 C A . PASS FUNCOTATION=[TNFRSF10A|hg19|chr8|23049208|23049208|NONSTOP||SNP|C|C|A|g.chr8:23049208C>A|ENST00000221132.3|-|10|1471|c.1406G>T|c.(1405-1407)tGa>tTa|p.*469L|0.4688279301745636|AAGAGTCTTTCACTCCAAGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -1691,19 +1691,19 @@ chr8 144413416 rs2450772 G A . PASS FUNCOTATION=[TOP1MT|hg19|chr8|144413416|1444 chr9 80855026 indel.104663 G GT . PASS FUNCOTATION=[CEP78|hg19|chr9|80855026|80855027|FRAME_SHIFT_INS||INS|-|-|T|g.chr9:80855026_80855027insT|ENST00000376597.4|+|2|485|c.341_342insT|c.(340-342)ggcfs|p.C115fs|0.3475|CTCTTAAAGGCTGTTTAAGT|CEP78_ENST00000424347.2_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000415759.2_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000277082.5_FRAME_SHIFT_INS_p.C115fs/CEP78_ENST00000376598.2_FRAME_SHIFT_INS_p.C115fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr9 114355240 indel.105666 C CT . PASS FUNCOTATION=[PTGR1|hg19|chr9|114355240|114355241|FRAME_SHIFT_INS||INS|-|-|T|g.chr9:114355240_114355241insT|ENST00000407693.2|-|4|438|c.174_175insA|c.(175-177)gaafs|p.E59fs|0.3925|TATCACCTTCCTTCAATCTT|PTGR1_ENST00000309195.5_FRAME_SHIFT_INS_p.E59fs/PTGR1_ENST00000538962.1_FRAME_SHIFT_INS_p.E59fs/PTGR1_ENST00000238248.3_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr9 125282025 indel.106072 G GTGTC . PASS FUNCOTATION=[OR1J4|hg19|chr9|125282025|125282026|FRAME_SHIFT_INS||INS|-|-|TGTC|g.chr9:125282025_125282026insTGTC|ENST00000340750.1|+|1|606|c.606_607insTGTC|c.(607-609)ggafs|p.G203fs|0.4875|TTTCACAGTGGGACAGGCAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr9 131221884 exm785426 C T . PASS FUNCOTATION=[ODF2|hg19|chr9|131221884|131221884|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:131221884C>T|ENST00000393527.3|+|3|||||0.4937655860349127|ACGAGTCTCACGCAGAAAAAG|ODF2_ENST00000448249.3_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000434106.3_MISSENSE_p.T24M/ODF2_ENST00000604420.1_MISSENSE_p.T24M/ODF2_ENST00000372791.3_MISSENSE_p.T24M/ODF2_ENST00000372814.3_MISSENSE_p.T68M/ODF2_ENST00000546203.1_MISSENSE_p.T24M/ODF2_ENST00000393533.2_MISSENSE_p.T24M/ODF2_ENST00000351030.3_DE_NOVO_START_IN_FRAME/ODF2_ENST00000535026.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr9 131221884 exm785426 C T . PASS FUNCOTATION=[ODF2|hg19|chr9|131221884|131221884|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:131221884C>T|ENST00000393527.3|+|3|||||0.4937655860349127|ACGAGTCTCACGCAGAAAAAG|ODF2_ENST00000448249.3_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000434106.3_MISSENSE_p.T24M/ODF2_ENST00000604420.1_MISSENSE_p.T24M/ODF2_ENST00000372791.3_MISSENSE_p.T24M/ODF2_ENST00000372814.3_MISSENSE_p.T68M/ODF2_ENST00000546203.1_MISSENSE_p.T24M/ODF2_ENST00000393533.2_MISSENSE_p.T24M/ODF2_ENST00000351030.3_DE_NOVO_START_IN_FRAME/ODF2_ENST00000535026.1_DE_NOVO_START_OUT_FRAME/ODF2_ENST00000372807.5_FIVE_PRIME_FLANK/ODF2_ENST00000444119.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr9 133327612 exm788586 C T . PASS FUNCOTATION=[ASS1|hg19|chr9|133327612|133327612|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr9:133327612C>T|ENST00000372394.1|+|3|||||0.6234413965087282|TCCCGCCAGACGCTATGTCCA|ASS1_ENST00000352480.5_DE_NOVO_START_OUT_FRAME/ASS1_ENST00000372393.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr9 139371562 exm798457 G A . PASS FUNCOTATION=[SEC16A|hg19|chr9|139371562|139371562|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr9:139371562G>A|ENST00000371706.3|-|1|||||0.6084788029925187|CCCATGAGACGTTTCAGGATC|SEC16A_ENST00000313050.7_MISSENSE_p.T169M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr9 139371562 exm798457 G A . PASS FUNCOTATION=[SEC16A|hg19|chr9|139371562|139371562|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr9:139371562G>A|ENST00000371706.3|-|1|||||0.6084788029925187|CCCATGAGACGTTTCAGGATC|SEC16A_ENST00000313050.7_MISSENSE_p.T169M/SEC16A_ENST00000290037.6_FIVE_PRIME_FLANK/SEC16A_ENST00000431893.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chrX 148582542 exm1661263 A C . PASS FUNCOTATION=[IDS|hg19|chrX|148582542|148582542|DE_NOVO_START_OUT_FRAME||SNP|A|A|C|g.chrX:148582542A>C|ENST00000422081.2|-|4|||||0.3940149625935162|CTATACGGAGAATCATCGGTA|IDS_ENST00000340855.6_MISSENSE_p.S149A/IDS_ENST00000370441.4_MISSENSE_p.S149A/IDS_ENST00000541269.1_DE_NOVO_START_OUT_FRAME/IDS_ENST00000370443.4_MISSENSE_p.S149A/IDS_ENST00000490775.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 72 2010-08-MT-841 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|72|72|IGR||SNP|T|T|C|g.chrM:72T>C|no_transcript|||||||0.4375|GTCTGGGGGGTATGCACGCGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 125 200610-102 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|125|125|IGR||SNP|T|T|C|g.chrM:125T>C|no_transcript|||||||0.4523076923076923|TATGTCGCAGTATCTGTCTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 212 200610-104 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|212|212|IGR||SNP|T|T|C|g.chrM:212T>C|no_transcript|||||||0.4389027431421446|AGTGTGTTAATTAATTAATGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 217 exm-rs41531144 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|217|217|IGR||SNP|T|T|C|g.chrM:217T>C|no_transcript|||||||0.44139650872817954|GTTAATTAATTAATGCTTGTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 228 exm-rs41323649 G A . PASS FUNCOTATION=[Unknown|hg19|chrM|228|228|IGR||SNP|G|G|A|g.chrM:228G>A|no_transcript|||||||0.43640897755610975|AATGCTTGTAGGACATAATAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 236 200610-105 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|236|236|IGR||SNP|T|T|C|g.chrM:236T>C|no_transcript|||||||0.4389027431421446|TAGGACATAATAATAACAATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 246 200610-106 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|246|246|IGR||SNP|T|T|C|g.chrM:246T>C|no_transcript|||||||0.4339152119700748|TAATAACAATTGAATGTCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 295 exm-rs41528348 C T . PASS FUNCOTATION=[Unknown|hg19|chrM|295|295|IGR||SNP|C|C|T|g.chrM:295C>T|no_transcript|||||||0.42144638403990026|CAAAAAATTTCCACCAAACCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 489 exm-rs28625645 T C . PASS FUNCOTATION=[Unknown|hg19|chrM|489|489|IGR||SNP|T|T|C|g.chrM:489T>C|no_transcript|||||||0.46633416458852867|ATCTCATCAATACAACCCCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 499 exm-rs3901846 G A . PASS FUNCOTATION=[Unknown|hg19|chrM|499|499|IGR||SNP|G|G|A|g.chrM:499G>A|no_transcript|||||||0.4688279301745636|TACAACCCCCGCCCATCCTAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chrM 1719 exm-rs3928305 G A . PASS FUNCOTATION=[MT-RNR2|hg19|chrM|1719|1719|RNA||SNP|G|G|A|g.chrM:1719G>A|ENST00000387347.2|+|||c.e1+48G>A|||0.4114713216957606|GACAACCTTAGCCAAACCATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 72 2010-08-MT-841 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|72|72|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:72T>C|ENST00000361390.2|+||||||0.4375|GTCTGGGGGGTATGCACGCGA|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 125 200610-102 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|125|125|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:125T>C|ENST00000361390.2|+||||||0.4523076923076923|TATGTCGCAGTATCTGTCTTT|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 212 200610-104 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|212|212|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:212T>C|ENST00000361390.2|+||||||0.4389027431421446|AGTGTGTTAATTAATTAATGC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 217 exm-rs41531144 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|217|217|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:217T>C|ENST00000361390.2|+||||||0.44139650872817954|GTTAATTAATTAATGCTTGTA|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 228 exm-rs41323649 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|228|228|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:228G>A|ENST00000361390.2|+||||||0.43640897755610975|AATGCTTGTAGGACATAATAA|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 236 200610-105 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|236|236|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:236T>C|ENST00000361390.2|+||||||0.4389027431421446|TAGGACATAATAATAACAATT|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 246 200610-106 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|246|246|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:246T>C|ENST00000361390.2|+||||||0.4339152119700748|TAATAACAATTGAATGTCTGC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 295 exm-rs41528348 C T . PASS FUNCOTATION=[MT-ND1|hg19|chrM|295|295|FIVE_PRIME_FLANK||SNP|C|C|T|g.chrM:295C>T|ENST00000361390.2|+||||||0.42144638403990026|CAAAAAATTTCCACCAAACCC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 489 exm-rs28625645 T C . PASS FUNCOTATION=[MT-ND1|hg19|chrM|489|489|FIVE_PRIME_FLANK||SNP|T|T|C|g.chrM:489T>C|ENST00000361390.2|+||||||0.46633416458852867|ATCTCATCAATACAACCCCCG|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 499 exm-rs3901846 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|499|499|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:499G>A|ENST00000361390.2|+||||||0.4688279301745636|TACAACCCCCGCCCATCCTAC|MT-RNR2_ENST00000387347.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chrM 1719 exm-rs3928305 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|1719|1719|FIVE_PRIME_FLANK||SNP|G|G|A|g.chrM:1719G>A|ENST00000361390.2|+||||||0.4114713216957606|GACAACCTTAGCCAAACCATT|MT-RNR2_ENST00000387347.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chrM 3316 exm-rs2853516 G A . PASS FUNCOTATION=[MT-ND1|hg19|chrM|3316|3316|MISSENSE||SNP|G|G|A|g.chrM:3316G>A|ENST00000361390.2|+|1|10|c.10G>A|c.(10-12)Gcc>Acc|p.A4T|0.4613466334164589|CATACCCATGGCCAACCTCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf index 69b53bc2652..8e40595fd62 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.maf @@ -88,15 +88,15 @@ ## contig= ## contig= ## contig= +## GATKCommandLine= ## source=Funcotator -## GATKCommandLine= -## Funcotator 0.0.5 | Date 20183513T123501 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 +## Funcotator 0.0.5 | Date 20184415T014432 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Activity_linked_to_OMIM FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values tumor_f t_alt_count t_ref_count n_alt_count n_ref_count Gencode_19_secondaryVariantClassification Achilles_Top_Genes CGC_Name CGC_GeneID CGC_Chr CGC_Chr_Band CGC_Cancer_Somatic_Mut CGC_Cancer_Germline_Mut CGC_Cancer_Syndrome CGC_Tissue_Type CGC_Cancer_Molecular_Genetics CGC_Other_Germline_Mut ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_ASSEMBLY ClinVar_rs CosmicFusion_fusion_id DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView DNARepairGenes_Accession_number_linked_to_NCBI_Entrez Familial_Cancer_Genes_Synonym Familial_Cancer_Genes_Reference Gencode_XHGNC_hgnc_id HGNC_HGNC_ID HGNC_Status HGNC_Locus_Type HGNC_Locus_Group HGNC_Previous_Symbols HGNC_Previous_Name HGNC_Synonyms HGNC_Name_Synonyms HGNC_Chromosome HGNC_Date_Modified HGNC_Date_Symbol_Changed HGNC_Date_Name_Changed HGNC_Accession_Numbers HGNC_Enzyme_IDs HGNC_Ensembl_Gene_ID HGNC_Pubmed_IDs HGNC_RefSeq_IDs HGNC_Gene_Family_ID HGNC_Gene_Family_Name HGNC_CCDS_IDs HGNC_Vega_ID HGNC_OMIM_ID(supplied_by_OMIM) HGNC_RefSeq(supplied_by_NCBI) HGNC_UniProt_ID(supplied_by_UniProt) HGNC_Ensembl_ID(supplied_by_Ensembl) HGNC_UCSC_ID(supplied_by_UCSC) Simple_Uniprot_alt_uniprot_accessions dbSNP_AC dbSNP_AF dbSNP_AN dbSNP_ASP dbSNP_ASS dbSNP_CAF dbSNP_CDA dbSNP_CFL dbSNP_COMMON dbSNP_DP dbSNP_DSS dbSNP_G5 dbSNP_G5A dbSNP_GENEINFO dbSNP_GNO dbSNP_HD dbSNP_INT dbSNP_KGPhase1 dbSNP_KGPhase3 dbSNP_LSD dbSNP_MTP dbSNP_MUT dbSNP_NOC dbSNP_NOV dbSNP_NSF dbSNP_NSM dbSNP_NSN dbSNP_OM dbSNP_OTH dbSNP_PM dbSNP_PMC dbSNP_R3 dbSNP_R5 dbSNP_REF dbSNP_RV dbSNP_S3D dbSNP_SAO dbSNP_SLO dbSNP_SSR dbSNP_SYN dbSNP_TOPMED dbSNP_TPA dbSNP_U3 dbSNP_U5 dbSNP_VC dbSNP_VP dbSNP_WGT dbSNP_WTD dbSNP_dbSNPBuildID dbSNP_ID HGNC_Entrez_Gene_ID(supplied_by_NCBI) dbSNP_RSPOS dbSNP_VLD RP11-206L10.10 __UNKNOWN__ hg19 1 752566 752566 + RNA SNP G G A 3094315 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:752566G>A ENST00000435300.1 - c.e1-187C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAGAAACGTTTGACAGAG 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2817,0.7183 false false 1 false true false FAM87B:400728 true true false true true false false false false false false false false false false true true false true false true false 0 true 0 false 0.351947,0.648053 false false false SNV 0x05012802000515053f000101 1 false 103 rs3094315 752566 true RP11-206L10.10 __UNKNOWN__ hg19 1 752721 752721 + RNA SNP A A G 3131972 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:752721A>G ENST00000435300.1 - c.e1-32T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGGAAAAGGGAAGAATG 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3466,0.6534 false false 1 false true true FAM87B:400728 true true false true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.393296,0.606704 false false false SNV 0x05010002000517053f000100 1 false 103 rs3131972 752721 true LINC00115 __UNKNOWN__ hg19 1 762320 762320 + RNA SNP C C T 75333668 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:762320C>T ENST00000473798.1 - c.e1-582G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCAACAGTCACCGCTAGTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9305,0.06949 false false 1 false true false LINC01128:643837|LINC00115:79854 false true false true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x050100020005150436000100 1 false 131 rs75333668 762320 true Unknown __UNKNOWN__ hg19 1 798959 798959 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:798959G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGCTTTAAGGTATGACTAG 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 838555 838555 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:838555C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCCATTTCACCTTAATCG 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +RP11-54O7.16 __UNKNOWN__ hg19 1 838555 838555 + 5'Flank SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:838555C>A ENST00000607769.1 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCCATTTCACCTTAATCG 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-54O7.16 __UNKNOWN__ hg19 1 846808 846808 + RNA SNP C C T 4475691 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:846808C>T ENST00000607769.1 + c.e2-4322C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGAGCTGCGCCTTTGTGC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7452,0.2548 false false 1 false true true LOC284600:284600 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.725634,0.274366 false false false SNV 0x05010002000517053e000100 1 false 111 rs4475691 846808 true SAMD11 __UNKNOWN__ hg19 1 861349 861349 + Missense_Mutation SNP C C T 200686669 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:861349C>T ENST00000342066.3 + 2 111 c.28C>T c.(28-30)Cct>Tct p.P10S AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGTGCATCCTCCGATCTG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs200686669 861349 true SAMD11 __UNKNOWN__ hg19 1 861808 861808 + Intron SNP A A G 13302982 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:861808A>G ENST00000342066.3 + c.e2+415A>G AL645608.1_ENST00000598827.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGACGACAGCATTTTGGGGAG 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3177,0.6823 false false 1 false true false SAMD11:148398 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.289649,0.710351 false false false SNV 0x05010008000515053f000100 1 false 121 rs13302982 861808 true @@ -109,42 +109,42 @@ SAMD11 __UNKNOWN__ hg19 1 865665 865665 + Missense_Mutation SNP G G A 145442390 SAMD11 __UNKNOWN__ hg19 1 865694 865694 + Missense_Mutation SNP C C T 9988179 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865694C>T ENST00000342066.3 + 3 315 c.232C>T c.(232-234)Cac>Tac p.H78Y AL645608.1_ENST00000598827.1_Missense_Mutation_p.C18Y __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATGGTCCGCACATCCGTAT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9475,0.05252 false false 1 false true false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.976441,0.0235593 false false false SNV 0x050100000a05150436000100 1 false 119 rs9988179 865694 true SAMD11 __UNKNOWN__ hg19 1 865700 865700 + Missense_Mutation SNP C C T 116730894 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865700C>T ENST00000342066.3 + 3 321 c.238C>T c.(238-240)Cgt>Tgt p.R80C AL645608.1_ENST00000598827.1_Missense_Mutation_p.R16Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGCACATCCGTATCATGAA 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.997802,0.00219795 false false false SNV 0x050100000a05040436000100 1 false 132 rs116730894 865700 true SAMD11 __UNKNOWN__ hg19 1 866429 866429 + Missense_Mutation SNP C C T 144317111 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:866429C>T ENST00000342066.3 + 4 348 c.265C>T c.(265-267)Cac>Tac p.H89Y AL645608.1_ENST00000598827.1_Nonsense_Mutation_p.W6* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCCACACCCACTGGGACGT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309108 false false false SNV 0x050000000a05040402000100 1 false 134 rs144317111 866429 true -SAMD11 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 871276 true +SAMD11 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S SAMD11_ENST00000478729.1_5'Flank|AL645608.1_ENST00000598827.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 871276 true SAMD11 __UNKNOWN__ hg19 1 878697 878697 + Nonsense_Mutation SNP G G A 147226614 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878697G>A ENST00000342066.3 + 12 1712 c.1629G>A c.(1627-1629)tgG>tgA p.W543* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACCAAGTGGACCGTGGATG 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398 false true true false false false false false false false false false true false false false false false false true false true 0 false 0 false false false false SNV 0x050200080605040402000100 1 false 134 rs147226614 878697 true NOC2L __UNKNOWN__ hg19 1 880167 880167 + Silent SNP G G A 201894720 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880167G>A ENST00000327044.6 - 19 2207 c.2157C>T c.(2155-2157)gaC>gaT p.D719D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGCCTCTGCGTCTGGGTCTC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SAMD11:148398|NOC2L:26155 false true false false false false false false false false false false false false false false false true false true false false 0 false 0 true false false false SNV 0x050000040305040402000100 1 false 137 rs201894720 880167 true NOC2L __UNKNOWN__ hg19 1 880943 880943 + Silent SNP G G A 113650656 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880943G>A ENST00000327044.6 - 17 2058 c.2008C>T c.(2008-2010)Ctg>Ttg p.L670L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGTTCAGGTCAAAGAGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198,. false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 true 0.998489,0.00144241,6.8686e-005 false false false SNV 0x050100000b05040536000100 1 false 132 rs113650656 880943 true NOC2L __UNKNOWN__ hg19 1 881554 881554 + Splice_Site SNP C C T 147322750 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881554C>T ENST00000327044.6 - 16 1966 c.1916G>A c.(1915-1917)cGg>cAg p.R639Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCCGCACCCGCTCTTTGCC 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999725,0.000274744 false false false SNV 0x050000000a05040402000100 1 false 134 rs147322750 881554 true NOC2L __UNKNOWN__ hg19 1 881627 881627 + Silent SNP G G A 2272757 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881627G>A ENST00000327044.6 - 16 1893 c.1843C>T c.(1843-1845)Ctg>Ttg p.L615L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAAGGTCAGGGGTGTCCCC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5581,0.4419 false false 1 false true true NOC2L:26155 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.601312,0.398688 false false false SNV 0x050100000305170536000100 1 false 100 rs2272757 881627 true NOC2L __UNKNOWN__ hg19 1 887521 887521 + Splice_Site SNP T T C 377598297 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887521T>C ENST00000327044.6 - c.e11+2A>G c.e11-2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATGTTTCCTGGTCAGAGAG 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON true true false false false false false NOC2L:26155 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000200005000402000100 1 false 138 rs377598297 887521 false -NOC2L __UNKNOWN__ hg19 1 891309 891309 + Missense_Mutation SNP C C T 148852075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891309C>T ENST00000327044.6 - 6 742 c.692G>A c.(691-693)aGc>aAc p.S231N NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACCTGCTGCTATCCTTTGC 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984 false false 1 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs148852075 891309 true -NOC2L __UNKNOWN__ hg19 1 891358 891358 + Missense_Mutation SNP G G T 147225789 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891358G>T ENST00000327044.6 - 6 693 c.643C>A c.(643-645)Ctc>Atc p.L215I NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAATGAGGTCTCTGATG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,.,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999107,6.8686e-005,0.000824232 false false false SNV 0x050100000a05040436000100 1 false 134 rs147225789 891358 true -NOC2L __UNKNOWN__ hg19 1 891384 891384 + Missense_Mutation SNP G G A 139726958 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891384G>A ENST00000327044.6 - 6 667 c.617C>T c.(616-618)gCt>gTt p.A206V NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAACCAGAGCATTGAATGC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040402000100 1 false 134 rs139726958 891384 true -NOC2L __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V NOC2L_ENST00000487214.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 891393 true -NOC2L __UNKNOWN__ hg19 1 894573 894573 + Intron SNP G G A 13303010 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894573G>A ENST00000327044.6 - c.e1-22C>T NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCAAATCGGCCCTCGGAC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3656,0.6344 false false 1 false true true KLHL17:339451|NOC2L:26155 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.400467,0.599533 false false false SNV 0x0501000a000517053f000100 1 false 121 rs13303010 894573 true -KLHL17 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 900427 true +NOC2L __UNKNOWN__ hg19 1 891309 891309 + Missense_Mutation SNP C C T 148852075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891309C>T ENST00000327044.6 - 6 742 c.692G>A c.(691-693)aGc>aAc p.S231N KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACCTGCTGCTATCCTTTGC 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984 false false 1 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs148852075 891309 true +NOC2L __UNKNOWN__ hg19 1 891358 891358 + Missense_Mutation SNP G G T 147225789 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891358G>T ENST00000327044.6 - 6 693 c.643C>A c.(643-645)Ctc>Atc p.L215I KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAATGAGGTCTCTGATG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,.,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999107,6.8686e-005,0.000824232 false false false SNV 0x050100000a05040436000100 1 false 134 rs147225789 891358 true +NOC2L __UNKNOWN__ hg19 1 891384 891384 + Missense_Mutation SNP G G A 139726958 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891384G>A ENST00000327044.6 - 6 667 c.617C>T c.(616-618)gCt>gTt p.A206V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAACCAGAGCATTGAATGC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040402000100 1 false 134 rs139726958 891384 true +NOC2L __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 891393 true +NOC2L __UNKNOWN__ hg19 1 894573 894573 + Intron SNP G G A 13303010 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894573G>A ENST00000327044.6 - c.e1-22C>T KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCAAATCGGCCCTCGGAC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3656,0.6344 false false 1 false true true KLHL17:339451|NOC2L:26155 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.400467,0.599533 false false false SNV 0x0501000a000517053f000100 1 false 121 rs13303010 894573 true +KLHL17 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 900427 true PLEKHN1 __UNKNOWN__ hg19 1 904165 904165 + Intron SNP G G A 28391282 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:904165G>A ENST00000379410.3 + c.e3-1492G>A PLEKHN1_ENST00000379407.3_Intron|PLEKHN1_ENST00000379409.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAAGGAGGGGGGTCAGGACTG 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8982,0.1018 false false 1 false true false PLEKHN1:84069 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.908098,0.0919019 false false false SNV 0x05010008000515053f000100 1 false 125 rs28391282 904165 true PLEKHN1 __UNKNOWN__ hg19 1 906472 906472 + Intron SNP G G A 201680039 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906472G>A ENST00000379410.3 + c.e7-21G>A PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E210K|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.E250K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCGGAGACGAACTCCCCTG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984 false false 1 false false false PLEKHN1:84069 false true true true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999347,0.000652517 false false false SNV 0x050000080a05040436000100 1 false 137 rs201680039 906472 true PLEKHN1 __UNKNOWN__ hg19 1 908390 908390 + Splice_Site SNP G G A 148169601 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908390G>A ENST00000379410.3 + 11 1187 c.1152G>A c.(1150-1152)ccG>ccA p.P384P PLEKHN1_ENST00000379407.3_Splice_Site_p.P396P|PLEKHN1_ENST00000379409.2_Splice_Site_p.P436P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCACACACCGGTGAGCGCTT 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.9968,0.003195 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999897,0.000103029 false false false SNV 0x050000000305040436000100 1 false 134 rs148169601 908390 true PLEKHN1 __UNKNOWN__ hg19 1 908585 908585 + Missense_Mutation SNP G G A 76884838 by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908585G>A ENST00000379410.3 + 12 1207 c.1172G>A c.(1171-1173)cGt>cAt p.R391H PLEKHN1_ENST00000379407.3_Intron|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R443H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTCTGACCGTGCCAGCATT 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false PLEKHN1:84069 false true true true true false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000080a05000436000100 1 false 131 rs76884838 908585 false PLEKHN1 __UNKNOWN__ hg19 1 908587 908587 + Missense_Mutation SNP G G A 375212442 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908587G>A ENST00000379410.3 + 12 1209 c.1174G>A c.(1174-1176)Gcc>Acc p.A392T PLEKHN1_ENST00000379407.3_Intron|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.A444T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTGACCGTGCCAGCATTGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false PLEKHN1:84069 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998626,0.00137372 false false false SNV 0x050000080a05040426000100 1 false 138 rs375212442 908587 true PLEKHN1 __UNKNOWN__ hg19 1 909320 909320 + Silent SNP C C T 144710974 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:909320C>T ENST00000379410.3 + 14 1577 c.1542C>T c.(1540-1542)ccC>ccT p.P514P PLEKHN1_ENST00000379407.3_Silent_p.P479P|PLEKHN1_ENST00000379409.2_Silent_p.P566P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCCGGCCCCGCTGGCCCCT 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.998077,0.00192334 false false false SNV 0x050000000305040436000100 1 false 134 rs144710974 909320 true -Unknown __UNKNOWN__ hg19 1 918573 918573 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:918573A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAACCTCTCACATTTCCAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +C1orf170 __UNKNOWN__ hg19 1 918573 918573 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:918573A>G ENST00000341290.2 - C1orf170_ENST00000433179.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAACCTCTCACATTTCCAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 928836 928836 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:928836C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTAAAGCCGAACTGGAAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RP11-54O7.17 __UNKNOWN__ hg19 1 932457 932457 + RNA SNP G G A 1891910 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:932457G>A ENST00000606034.1 - c.e1-974C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTCAAAGGGATGGATTAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8684,0.1316,. false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.840569,0.159397,3.43454e-005 false false false SNV 0x05010000000515053f000100 1 false 92 rs1891910 932457 true -HES4 __UNKNOWN__ hg19 1 934735 934735 + Missense_Mutation SNP A A C 200527634 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:934735A>C ENST00000304952.6 - 4 508 c.370T>G c.(370-372)Ttc>Gtc p.F124V HES4_ENST00000428771.2_Missense_Mutation_p.F150V|HES4_ENST00000484667.2_Missense_Mutation_p.F92V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGGCCAGGAAGCGGTTCACC 0.7805486284289277 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398 false false 1 false false false HES4:57801 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99763,0.00236967 false false false SNV 0x050000000a05040426000100 1 false 137 rs200527634 934735 true -HES4 __UNKNOWN__ hg19 1 934770 934770 + Missense_Mutation SNP G G A 201391049 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:934770G>A ENST00000304952.6 - 4 473 c.335C>T c.(334-336)gCc>gTc p.A112V HES4_ENST00000428771.2_Missense_Mutation_p.A138V|HES4_ENST00000484667.2_Missense_Mutation_p.A80V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAAGCCGGCGCGGTACTT 0.7680798004987531 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 1 false false false HES4:57801 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000000a05040426000100 1 false 137 rs201391049 934770 true -HES4 __UNKNOWN__ hg19 1 934801 934801 + Missense_Mutation SNP C C T 200512735 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:934801C>T ENST00000304952.6 - 4 442 c.304G>A c.(304-306)Gcc>Acc p.A102T HES4_ENST00000428771.2_Missense_Mutation_p.A128T|HES4_ENST00000484667.2_Missense_Mutation_p.A70T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGGGTCGGCGCTGAGCGCG 0.7581047381546134 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9974,0.002596 false false 1 false false false HES4:57801 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999313,0.00068686 false false false SNV 0x050000000a05040426000100 1 false 137 rs200512735 934801 true -HES4 __UNKNOWN__ hg19 1 935085 935085 + Missense_Mutation SNP G G A 144665333 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935085G>A ENST00000304952.6 - 2 329 c.191C>T c.(190-192)gCc>gTc p.A64V HES4_ENST00000428771.2_Missense_Mutation_p.A90V|HES4_ENST00000484667.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCTGAGGGCGTCCAGGAT 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false HES4:57801 false true true true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999004,0.000995948 false false false SNV 0x050000080a05040436000100 1 false 134 rs144665333 935085 true -HES4 __UNKNOWN__ hg19 1 935089 935089 + Missense_Mutation SNP C C G 144493256 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935089C>G ENST00000304952.6 - 2 325 c.187G>C c.(187-189)Gac>Cac p.D63H HES4_ENST00000428771.2_Missense_Mutation_p.D89H|HES4_ENST00000484667.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAGGGCGTCCAGGATGAGG 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false HES4:57801 false true true false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000080a05040402000100 1 false 134 rs144493256 935089 true -Unknown __UNKNOWN__ hg19 1 944564 944564 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:944564T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATACATTTCTGTGGTGTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +HES4 __UNKNOWN__ hg19 1 934735 934735 + Missense_Mutation SNP A A C 200527634 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:934735A>C ENST00000304952.6 - 4 508 c.370T>G c.(370-372)Ttc>Gtc p.F124V HES4_ENST00000428771.2_Missense_Mutation_p.F150V|HES4_ENST00000484667.2_Missense_Mutation_p.F92V|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGGCCAGGAAGCGGTTCACC 0.7805486284289277 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9986,0.001398 false false 1 false false false HES4:57801 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99763,0.00236967 false false false SNV 0x050000000a05040426000100 1 false 137 rs200527634 934735 true +HES4 __UNKNOWN__ hg19 1 934770 934770 + Missense_Mutation SNP G G A 201391049 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:934770G>A ENST00000304952.6 - 4 473 c.335C>T c.(334-336)gCc>gTc p.A112V HES4_ENST00000428771.2_Missense_Mutation_p.A138V|HES4_ENST00000484667.2_Missense_Mutation_p.A80V|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAAGCCGGCGCGGTACTT 0.7680798004987531 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 1 false false false HES4:57801 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000000a05040426000100 1 false 137 rs201391049 934770 true +HES4 __UNKNOWN__ hg19 1 934801 934801 + Missense_Mutation SNP C C T 200512735 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:934801C>T ENST00000304952.6 - 4 442 c.304G>A c.(304-306)Gcc>Acc p.A102T HES4_ENST00000428771.2_Missense_Mutation_p.A128T|HES4_ENST00000484667.2_Missense_Mutation_p.A70T|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGGGTCGGCGCTGAGCGCG 0.7581047381546134 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9974,0.002596 false false 1 false false false HES4:57801 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999313,0.00068686 false false false SNV 0x050000000a05040426000100 1 false 137 rs200512735 934801 true +HES4 __UNKNOWN__ hg19 1 935085 935085 + Missense_Mutation SNP G G A 144665333 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935085G>A ENST00000304952.6 - 2 329 c.191C>T c.(190-192)gCc>gTc p.A64V HES4_ENST00000428771.2_Missense_Mutation_p.A90V|HES4_ENST00000484667.2_Intron|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCTGAGGGCGTCCAGGAT 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false HES4:57801 false true true true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999004,0.000995948 false false false SNV 0x050000080a05040436000100 1 false 134 rs144665333 935085 true +HES4 __UNKNOWN__ hg19 1 935089 935089 + Missense_Mutation SNP C C G 144493256 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935089C>G ENST00000304952.6 - 2 325 c.187G>C c.(187-189)Gac>Cac p.D63H HES4_ENST00000428771.2_Missense_Mutation_p.D89H|HES4_ENST00000484667.2_Intron|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAGGGCGTCCAGGATGAGG 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false HES4:57801 false true true false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000080a05040402000100 1 false 134 rs144493256 935089 true +ISG15 __UNKNOWN__ hg19 1 944564 944564 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:944564T>C ENST00000379389.4 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATACATTTCTGTGGTGTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false AGRN __UNKNOWN__ hg19 1 981345 981345 + Splice_Site SNP C C T 118105080 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:981345C>T ENST00000379370.2 + 16 2732 c.2682C>T c.(2680-2682)gaC>gaT p.D894D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAGACGCTTCTGCGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false 0.998,0.001997 false false 1 false false false AGRN:375790 false true false true true false false false false false false false false false false true true false false true false false 0 true 0 true 0.99976,0.000240401 false false false SNV 0x050128000305040436000100 1 false 132 rs118105080 981345 true -AGRN __UNKNOWN__ hg19 1 990417 990417 + 3'UTR SNP T T C 2465136 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:990417T>C ENST00000379370.2 + 36 RP11-54O7.14_ENST00000418300.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAAACTTGTTGCTTTTTGAT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.616,0.384 false false 1 false true true AGRN:375790 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.565114,0.434886 false true false SNV 0x05010080000517053f000100 1 false 100 rs2465136 990417 true +AGRN __UNKNOWN__ hg19 1 990417 990417 + 3'UTR SNP T T C 2465136 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:990417T>C ENST00000379370.2 + 36 RP11-54O7.14_ENST00000418300.1_RNA|RP11-465B22.3_ENST00000427998.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAAACTTGTTGCTTTTTGAT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.616,0.384 false false 1 false true true AGRN:375790 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.565114,0.434886 false true false SNV 0x05010080000517053f000100 1 false 100 rs2465136 990417 true RP11-465B22.3 __UNKNOWN__ hg19 1 998395 998395 + RNA SNP A A G 7526076 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:998395A>G ENST00000427998.1 + c.e3-64A>G RP11-54O7.18_ENST00000442292.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGGAAACAATGAGGGAGGT 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1777,0.8223 false false 1 false true true LOC100288175:100288175 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.225771,0.774229 false false false SNV 0x05010008000517053f000100 1 false 116 rs7526076 998395 true Unknown __UNKNOWN__ hg19 1 1062638 1062638 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1062638C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCCCGCCGCAGCTTTAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1066403 1066403 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1066403T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCCGGCAATGGCATCCCAA 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false Unknown __UNKNOWN__ hg19 1 1097335 1097335 + IGR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1097335T>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCTCTTCCTCTGGGAGATG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ hg19 1 1106784 1106784 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1106784T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGGCCAGTTCTGGAGAGG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -TTLL10 __UNKNOWN__ hg19 1 1115954 1115954 + Nonsense_Mutation SNP C C T 191284590 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1115954C>T ENST00000379290.1 + 7 771 c.598C>T c.(598-600)Cga>Tga p.R200* TTLL10_ENST00000379289.1_Nonsense_Mutation_p.R200*|TTLL10_ENST00000379288.3_Nonsense_Mutation_p.R127* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAAGAGCCGAGACAGCTA 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false TTLL10:254173 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000605040436000100 1 false 135 rs191284590 1115954 true +TTLL10 __UNKNOWN__ hg19 1 1106784 1106784 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1106784T>C ENST00000379289.1 + TTLL10_ENST00000379290.1_5'Flank|TTLL10_ENST00000506177.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGGCCAGTTCTGGAGAGG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +TTLL10 __UNKNOWN__ hg19 1 1115954 1115954 + Nonsense_Mutation SNP C C T 191284590 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1115954C>T ENST00000379290.1 + 7 771 c.598C>T c.(598-600)Cga>Tga p.R200* TTLL10_ENST00000379289.1_Nonsense_Mutation_p.R200*|TTLL10_ENST00000379288.3_Nonsense_Mutation_p.R127*|TTLL10-AS1_ENST00000379317.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAAGAGCCGAGACAGCTA 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false TTLL10:254173 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000605040436000100 1 false 135 rs191284590 1115954 true TTLL10 __UNKNOWN__ hg19 1 1120536 1120536 + Intron SNP G G A 77950429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120536G>A ENST00000379290.1 + c.e13+47G>A TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379288.3_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTCGGGGCGGGGGTGTGTG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9483,0.05172 false false 1 false true false TTLL10:254173 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.976578,0.0234219 false true false SNV 0x050100880005150536000100 1 false 131 rs77950429 1120536 true TNFRSF18 __UNKNOWN__ hg19 1 1138913 1138913 + 3'UTR SNP T T C 3819001 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1138913T>C ENST00000379268.2 - 5 TNFRSF18_ENST00000328596.6_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTATTGAAGGTCCCCTGCAGC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8015,0.1985 false false 1 false true false TNFRSF18:8784 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.781922,0.218078 false true false SNV 0x05010080000515053f000100 1 false 107 rs3819001 1138913 true TNFRSF18 __UNKNOWN__ hg19 1 1139062 1139062 + 3'UTR SNP G G A 200799216 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139062G>A ENST00000379268.2 - 5 TNFRSF18_ENST00000328596.6_Missense_Mutation_p.S226L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGGCCGCCGAACTGCATGG 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false TNFRSF18:8784 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false true false SNV 0x050000800a05040436000100 1 false 137 rs200799216 1139062 true @@ -155,40 +155,40 @@ SDF4 __UNKNOWN__ hg19 1 1152971 1152971 + Missense_Mutation SNP T T C 149492192 SDF4 __UNKNOWN__ hg19 1 1153047 1153047 + Missense_Mutation SNP C C T 201770843 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153047C>T ENST00000360001.6 - 7 1197 c.934G>A c.(934-936)Gag>Aag p.E312K SDF4_ENST00000263741.7_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGTTGTACTCGTTCATGGGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SDF4:51150 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999794,0.000206058 false true false SNV 0x050200800a05040402000100 1 false 137 rs201770843 1153047 true FAM132A __UNKNOWN__ hg19 1 1178848 1178848 + Nonsense_Mutation SNP G G A 115005664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1178848G>A ENST00000330388.2 - 5 648 c.616C>T c.(616-618)Cag>Tag p.Q206* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGAGAACTGGAAGATGCCG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9968,0.003195 false false 1 false false false FAM132A:388581 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.993474,0.00652562 false false false SNV 0x050000000605040436000100 1 false 132 rs115005664 1178848 true FAM132A __UNKNOWN__ hg19 1 1179619 1179619 + Nonsense_Mutation SNP C C A 201741650 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1179619C>A ENST00000330388.2 - 3 363 c.331G>T c.(331-333)Gaa>Taa p.E111* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGTCACTTCTGCACCTGGA 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false FAM132A:388581 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.43454e-005 false false false SNV 0x050000000605040402000100 1 false 137 rs201741650 1179619 true -RP5-902P8.10 __UNKNOWN__ hg19 1 1211292 1211292 + RNA SNP C C T 6685064 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1211292C>T ENST00000453732.1 + c.e1+613C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTATAGGCAGATTCAAAA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5695,0.4305 false false 1 false true false LOC101928895:101928895 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.693592,0.306408 false false false SNV 0x05010008000515053f000100 1 false 116 rs6685064 1211292 true -SCNN1D __UNKNOWN__ hg19 1 1216848 1216848 + Silent SNP G G A 34385715 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1216848G>A ENST00000379116.5 + 3 361 c.135G>A c.(133-135)tcG>tcA p.S45S SCNN1D_ENST00000338555.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGGGTTCGCCCCACCCCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9928,0.007188 false false 1 false false false SCNN1D:6339 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.9932,0.00679992 false false false SNV 0x050100000305040536000100 1 false 126 rs34385715 1216848 true +SCNN1D __UNKNOWN__ hg19 1 1211292 1211292 + 5'Flank SNP C C T 6685064 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1211292C>T ENST00000338555.2 + UBE2J2_ENST00000347370.2_5'Flank|UBE2J2_ENST00000348298.7_5'Flank|UBE2J2_ENST00000349431.6_5'Flank|UBE2J2_ENST00000360466.2_5'Flank|SCNN1D_ENST00000379116.5_5'Flank|UBE2J2_ENST00000400929.2_5'Flank|UBE2J2_ENST00000400930.4_5'Flank|UBE2J2_ENST00000491779.1_5'Flank|RP5-902P8.10_ENST00000453732.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTATAGGCAGATTCAAAA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5695,0.4305 false false 1 false true false LOC101928895:101928895 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.693592,0.306408 false false false SNV 0x05010008000515053f000100 1 false 116 rs6685064 1211292 true +SCNN1D __UNKNOWN__ hg19 1 1216848 1216848 + Silent SNP G G A 34385715 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1216848G>A ENST00000379116.5 + 3 361 c.135G>A c.(133-135)tcG>tcA p.S45S SCNN1D_ENST00000338555.2_5'UTR|SCNN1D_ENST00000325425.8_5'Flank|SCNN1D_ENST00000400928.3_5'Flank|SCNN1D_ENST00000467651.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGGGTTCGCCCCACCCCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9928,0.007188 false false 1 false false false SCNN1D:6339 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.9932,0.00679992 false false false SNV 0x050100000305040536000100 1 false 126 rs34385715 1216848 true SCNN1D __UNKNOWN__ hg19 1 1219382 1219382 + Missense_Mutation SNP C C G 114582555 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1219382C>G ENST00000379116.5 + 5 602 c.376C>G c.(376-378)Cag>Gag p.Q126E SCNN1D_ENST00000325425.8_Missense_Mutation_p.Q28E|SCNN1D_ENST00000338555.2_5'UTR|SCNN1D_ENST00000400928.3_5'UTR|SCNN1D_ENST00000467651.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCTGCTTCAGAGCTGCCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9798,0.01518,0.004992 false false 1 false false false SCNN1D:6339 false true false true true false false false false false false true true false false false false false false true false false 0 true 0 false 0.975338,0.0246617,. false false false SNV 0x050100000e05140436000100 1 false 132 rs114582555 1219382 true SCNN1D __UNKNOWN__ hg19 1 1219401 1219401 + Missense_Mutation SNP C C T 201680784 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1219401C>T ENST00000379116.5 + 5 621 c.395C>T c.(394-396)cCg>cTg p.P132L SCNN1D_ENST00000325425.8_Missense_Mutation_p.P34L|SCNN1D_ENST00000338555.2_5'UTR|SCNN1D_ENST00000400928.3_5'UTR|SCNN1D_ENST00000467651.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCTGCCCCCGCAATGGCTG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9988,0.001198 false false 1 false false false SCNN1D:6339 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999176,0.000824346 false false false SNV 0x050000000a05040426000100 1 false 137 rs201680784 1219401 true SCNN1D __UNKNOWN__ hg19 1 1222519 1222519 + Nonsense_Mutation SNP C C T 148588796 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1222519C>T ENST00000379116.5 + 9 1376 c.1150C>T c.(1150-1152)Cga>Tga p.R384* SCNN1D_ENST00000338555.2_Nonsense_Mutation_p.R220*|SCNN1D_ENST00000325425.8_Nonsense_Mutation_p.R286*|SCNN1D_ENST00000400928.3_Nonsense_Mutation_p.R220* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTTTTACCGAGGCTACAC 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.999,0.0009984 false false 1 false false false SCNN1D:6339 false true false true true false false false false false false false true false false false false false false true false true 0 true 0 false 0.998661,0.00133938 false false false SNV 0x050300000605040436000100 1 false 134 rs148588796 1222519 true ACAP3 __UNKNOWN__ hg19 1 1227897 1227897 + 3'UTR SNP A A G 3737721 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1227897A>G ENST00000354700.5 - 24 ACAP3_ENST00000353662.3_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCAGGGTCACAGGCAGCAG 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.772,0.228 false false 1 false true false SCNN1D:6339|ACAP3:116983 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.918916,0.0810839 false true false SNV 0x05010088000515053f000100 1 false 107 rs3737721 1227897 true CPSF3L __UNKNOWN__ hg19 1 1249193 1249194 + Frame_Shift_Ins INS - - GCAA 752230074 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1249193_1249194insGCAA ENST00000435064.1 - 9 959 c.875_876insTTGC c.(874-876)aagfs p.K292fs CPSF3L_ENST00000421495.2_Frame_Shift_Ins_p.K34fs|CPSF3L_ENST00000450926.2_Frame_Shift_Ins_p.K270fs|CPSF3L_ENST00000411962.1_Frame_Shift_Ins_p.K194fs|CPSF3L_ENST00000419704.1_Frame_Shift_Ins_p.K191fs|CPSF3L_ENST00000540437.1_Frame_Shift_Ins_p.K298fs|CPSF3L_ENST00000545578.1_Frame_Shift_Ins_p.K263fs|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGAAAGTCTTGCGGATCT 0.6325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIR6727:102465435|CPSF3L:54973 false true false false false false false false false false true false false false false false false false true true false false 0 false 0 false false false false DIV 0x050000021205000402000200 1 false 144 rs752230074 1249193 false CPSF3L __UNKNOWN__ hg19 1 1250794 1250794 + Nonsense_Mutation SNP G G A 373723769 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1250794G>A ENST00000435064.1 - 6 636 c.553C>T c.(553-555)Cga>Tga p.R185* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R163*|CPSF3L_ENST00000411962.1_Nonsense_Mutation_p.R87*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R84*|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R191*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.R156*|CPSF3L_ENST00000462432.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAAGTGTCGGTCTGGGGTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true false false false false false false false false false true true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000e05040402000100 1 false 138 rs373723769 1250794 true -CPSF3L __UNKNOWN__ hg19 1 1254678 1254678 + Nonsense_Mutation SNP G G A 200207309 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254678G>A ENST00000435064.1 - 4 510 c.427C>T c.(427-429)Cag>Tag p.Q143* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGACCTGGACCGTCTGG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true true false false false false false false false false false true false false false false false true true false true 0 false 0 false false false false SNV 0x0502000a0605000402000100 1 false 137 rs200207309 1254678 false -CPSF3L __UNKNOWN__ hg19 1 1256453 1256453 + Nonsense_Mutation SNP G G A 200498230 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1256453G>A ENST00000435064.1 - 2 132 c.49C>T c.(49-51)Cga>Tga p.R17* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGCTTCGGCCCACGTCC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false CPSF3L:54973 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false true SNV 0x050200480605040436000100 1 false 137 rs200498230 1256453 true -RP4-758J18.10 __UNKNOWN__ hg19 1 1366830 1366830 + RNA SNP A A G 873927 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1366830A>G ENST00000417917.1 - c.e2+496T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTTCAGGACCCTGGGTCC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3157,0.6843 false false 1 false true false LOC102724312:102724312 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.497733,0.502267 false false false SNV 0x050100080005150537000100 1 false 92 rs873927 1366830 true -MIB2 __UNKNOWN__ hg19 1 1550992 1550992 + Nonsense_Mutation SNP C C A 199741261 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1550992C>A ENST00000505820.2 + 1 170 c.153C>A c.(151-153)tgC>tgA p.C51* MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|RP11-345P4.9_ENST00000607222.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCGCGATGCGGGCCGTCCT 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIB2:142678 false true false false false false false false false false false false true false false false false false true true false false 0 true 0 false 0.998798,0.00120201 false false false SNV 0x050100020605040402000100 1 false 137 rs199741261 1550992 true -MIB2 __UNKNOWN__ hg19 1 1551927 1551927 + Missense_Mutation SNP T T C 7418389 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1551927T>C ENST00000505820.2 + 2 231 c.214T>C c.(214-216)Ttc>Ctc p.F72L MIB2_ENST00000520777.1_Missense_Mutation_p.F72L|MIB2_ENST00000355826.5_Missense_Mutation_p.F72L|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.F72L|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000357210.4_Missense_Mutation_p.F15L|MIB2_ENST00000360522.4_Missense_Mutation_p.F15L|MIB2_ENST00000378710.3_Missense_Mutation_p.F15L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCAAAGTTTCCAGGCATC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.523,0.477 false false 1 false true true MIB2:142678 true true false true true false false false false false false true false false false false false false false true true false 0 true 0 false 0.374373,0.625627 false false true SNV 0x050100400a0517053e000100 1 false 116 rs7418389 1551927 true -MIB2 __UNKNOWN__ hg19 1 1551952 1551952 + Missense_Mutation SNP G G A 199576573 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1551952G>A ENST00000505820.2 + 2 256 c.239G>A c.(238-240)aGg>aAg p.R80K MIB2_ENST00000520777.1_Missense_Mutation_p.R80K|MIB2_ENST00000355826.5_Missense_Mutation_p.R80K|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.R80K|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000357210.4_Missense_Mutation_p.R23K|MIB2_ENST00000360522.4_Missense_Mutation_p.R23K|MIB2_ENST00000378710.3_Missense_Mutation_p.R23K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCAGCCCAGGAGCCTCAAG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9982,0.001797 false false 1 false false false MIB2:142678 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997527,0.0024727 false false true SNV 0x050000400a05040426000100 1 false 137 rs199576573 1551952 true +CPSF3L __UNKNOWN__ hg19 1 1254678 1254678 + Nonsense_Mutation SNP G G A 200207309 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254678G>A ENST00000435064.1 - 4 510 c.427C>T c.(427-429)Cag>Tag p.Q143* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|CPSF3L_ENST00000462432.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGACCTGGACCGTCTGG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPSF3L:54973 false true true false false false false false false false false false true false false false false false true true false true 0 false 0 false false false false SNV 0x0502000a0605000402000100 1 false 137 rs200207309 1254678 false +CPSF3L __UNKNOWN__ hg19 1 1256453 1256453 + Nonsense_Mutation SNP G G A 200498230 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1256453G>A ENST00000435064.1 - 2 132 c.49C>T c.(49-51)Cga>Tga p.R17* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGCTTCGGCCCACGTCC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false CPSF3L:54973 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false true SNV 0x050200480605040436000100 1 false 137 rs200498230 1256453 true +VWA1 __UNKNOWN__ hg19 1 1366830 1366830 + 5'Flank SNP A A G 873927 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1366830A>G ENST00000338660.5 + VWA1_ENST00000404702.3_5'Flank|VWA1_ENST00000476993.1_5'Flank|RP4-758J18.10_ENST00000417917.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTTCAGGACCCTGGGTCC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3157,0.6843 false false 1 false true false LOC102724312:102724312 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.497733,0.502267 false false false SNV 0x050100080005150537000100 1 false 92 rs873927 1366830 true +MIB2 __UNKNOWN__ hg19 1 1550992 1550992 + Nonsense_Mutation SNP C C A 199741261 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1550992C>A ENST00000505820.2 + 1 170 c.153C>A c.(151-153)tgC>tgA p.C51* MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|MIB2_ENST00000378708.1_5'Flank|MIB2_ENST00000378712.1_5'Flank|MIB2_ENST00000504599.1_5'Flank|RP11-345P4.9_ENST00000607222.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCGCGATGCGGGCCGTCCT 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MIB2:142678 false true false false false false false false false false false false true false false false false false true true false false 0 true 0 false 0.998798,0.00120201 false false false SNV 0x050100020605040402000100 1 false 137 rs199741261 1550992 true +MIB2 __UNKNOWN__ hg19 1 1551927 1551927 + Missense_Mutation SNP T T C 7418389 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1551927T>C ENST00000505820.2 + 2 231 c.214T>C c.(214-216)Ttc>Ctc p.F72L MIB2_ENST00000520777.1_Missense_Mutation_p.F72L|MIB2_ENST00000355826.5_Missense_Mutation_p.F72L|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.F72L|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000357210.4_Missense_Mutation_p.F15L|MIB2_ENST00000360522.4_Missense_Mutation_p.F15L|MIB2_ENST00000378710.3_Missense_Mutation_p.F15L|MIB2_ENST00000378708.1_5'Flank|RP11-345P4.9_ENST00000607222.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCAAAGTTTCCAGGCATC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.523,0.477 false false 1 false true true MIB2:142678 true true false true true false false false false false false true false false false false false false false true true false 0 true 0 false 0.374373,0.625627 false false true SNV 0x050100400a0517053e000100 1 false 116 rs7418389 1551927 true +MIB2 __UNKNOWN__ hg19 1 1551952 1551952 + Missense_Mutation SNP G G A 199576573 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1551952G>A ENST00000505820.2 + 2 256 c.239G>A c.(238-240)aGg>aAg p.R80K MIB2_ENST00000520777.1_Missense_Mutation_p.R80K|MIB2_ENST00000355826.5_Missense_Mutation_p.R80K|MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.R80K|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000357210.4_Missense_Mutation_p.R23K|MIB2_ENST00000360522.4_Missense_Mutation_p.R23K|MIB2_ENST00000378710.3_Missense_Mutation_p.R23K|MIB2_ENST00000378708.1_5'Flank|RP11-345P4.9_ENST00000607222.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCAGCCCAGGAGCCTCAAG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9982,0.001797 false false 1 false false false MIB2:142678 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997527,0.0024727 false false true SNV 0x050000400a05040426000100 1 false 137 rs199576573 1551952 true MIB2 __UNKNOWN__ hg19 1 1558792 1558792 + Missense_Mutation SNP T T C 12755088 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1558792T>C ENST00000505820.2 + 3 322 c.305T>C c.(304-306)aTg>aCg p.M102T MIB2_ENST00000520777.1_Missense_Mutation_p.M102T|MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Missense_Mutation_p.M102T|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000357210.4_Missense_Mutation_p.M45T|MIB2_ENST00000360522.4_Missense_Mutation_p.M45T|MIB2_ENST00000378710.3_Missense_Mutation_p.M45T|MIB2_ENST00000512004.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGCCCACCATGGACCCCTCT 0.7281795511221946 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2264,0.7736,. false false 1 false true false MIB2:142678 true true true true true false false false false false false true false false false false false false false true false false 0 true 0 false false false false SNV 0x050100080a0515053e000100 1 false 121 rs12755088 1558792 true CDK11A __UNKNOWN__ hg19 1 1647786 1647787 + Splice_Site DEL T T - 748188287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1647786delT ENST00000358779.5 - 5 538 c.457delA c.(457-459)aggfs p.R153fs CDK11A_ENST00000356200.3_Splice_Site_p.R129fs|CDK11A_ENST00000378633.1_Splice_Site_p.R153fs|CDK11A_ENST00000404249.3_Splice_Site_p.R163fs|CDK11A_ENST00000357760.2_Splice_Site_p.R153fs|CDK11A_ENST00000378638.2_Splice_Site_p.R129fs|CDK11A_ENST00000378635.3_Splice_Site_p.S153fs|RP1-283E3.8_ENST00000598846.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCACTCACCTTTCTCTCCTG 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_DEL true false false false false false false CDK11A:728642 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false true DIV 0x050000401205000402000200 1 false 144 rs748188287 1647786 false -RP11-181G12.4 __UNKNOWN__ hg19 1 2146966 2146966 + RNA SNP T T C 7512482 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2146966T>C ENST00000442483.2 + c.e1+2883T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACCTGCGTGAAGGAGCCC 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7963,0.2037 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.761969,0.238031 false false false SNV 0x05010000000517053f000100 1 false 116 rs7512482 2146966 true -RER1 __UNKNOWN__ hg19 1 2327075 2327075 + 5'UTR SNP C C T 3736330 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327075C>T ENST00000488353.1 + 1 RER1_ENST00000605895.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTTTTTCCCGAACAATTCA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7638,0.2362 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.789718,0.210282 false false false SNV 0x050100080005150537000100 1 false 107 rs3736330 2327075 true +C1orf86 __UNKNOWN__ hg19 1 2146966 2146966 + 5'Flank SNP T T C 7512482 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2146966T>C ENST00000487186.1 - AL590822.1_ENST00000545087.1_5'Flank|RP11-181G12.4_ENST00000442483.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACCTGCGTGAAGGAGCCC 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7963,0.2037 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.761969,0.238031 false false false SNV 0x05010000000517053f000100 1 false 116 rs7512482 2146966 true +RER1 __UNKNOWN__ hg19 1 2327075 2327075 + 5'UTR SNP C C T 3736330 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327075C>T ENST00000488353.1 + 1 RER1_ENST00000605895.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron|MORN1_ENST00000378529.3_5'Flank|MORN1_ENST00000378531.3_5'Flank|MORN1_ENST00000606372.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTTTTTCCCGAACAATTCA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7638,0.2362 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.789718,0.210282 false false false SNV 0x050100080005150537000100 1 false 107 rs3736330 2327075 true PLCH2 __UNKNOWN__ hg19 1 2408058 2408058 + Missense_Mutation SNP C C T 199848920 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2408058C>T ENST00000419816.2 + 1 305 c.31C>T c.(31-33)Cgg>Tgg p.R11W PLCH2_ENST00000449969.1_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R11W|PLCH2_ENST00000378488.3_Missense_Mutation_p.R11W|PLCH2_ENST00000288766.5_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCGACAGCCGGACCAAGGG 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PLCH2:9651 false true true false false false false false false false false true false false false false false false false true false false 0 false 0 false false false true SNV 0x050000480a05040402000100 1 false 137 rs199848920 2408058 true PANK4 __UNKNOWN__ hg19 1 2450734 2450735 + Frame_Shift_Del DEL G G - 764053138 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2450734delG ENST00000378466.3 - 7 897 c.883delC c.(883-885)ctgfs p.L295fs PANK4_ENST00000435556.3_Frame_Shift_Del_p.L256fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTGCAGCAGGCTCTTCGCC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PANK4:55229 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs764053138 2450734 false -MMEL1 __UNKNOWN__ hg19 1 2564465 2564465 + 5'UTR SNP T T C 12752515 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2564465T>C ENST00000288709.6 - 1 RP13-436F16.1_ENST00000427302.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGGCTTCTGGGCCTCCTT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4824,0.5176 false false 1 false true true MMEL1:79258 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.403943,0.596057 false false true SNV 0x050100400a0517053e000100 1 false 121 rs12752515 2564465 true -TPRG1L __UNKNOWN__ hg19 1 3542386 3542387 + Frame_Shift_Del DEL A A - 749859577 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542386delA ENST00000378344.2 + 3 473 c.403delA c.(403-405)atafs p.I135fs TPRG1L_ENST00000344579.5_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGCGGATAGCGCTCAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs749859577 3542386 false +MMEL1 __UNKNOWN__ hg19 1 2564465 2564465 + 5'UTR SNP T T C 12752515 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2564465T>C ENST00000288709.6 - 1 MMEL1_ENST00000378412.3_5'Flank|MMEL1_ENST00000502556.1_5'Flank|MMEL1_ENST00000511099.1_5'Flank|RP13-436F16.1_ENST00000427302.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGGCTTCTGGGCCTCCTT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4824,0.5176 false false 1 false true true MMEL1:79258 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.403943,0.596057 false false true SNV 0x050100400a0517053e000100 1 false 121 rs12752515 2564465 true +TPRG1L __UNKNOWN__ hg19 1 3542386 3542387 + Frame_Shift_Del DEL A A - 749859577 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542386delA ENST00000378344.2 + 3 473 c.403delA c.(403-405)atafs p.I135fs TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGCGGATAGCGCTCAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TPRG1L:127262 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs749859577 3542386 false DFFB __UNKNOWN__ hg19 1 3789042 3789043 + Frame_Shift_Del DEL T T - 755710345 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3789042delT ENST00000378209.3 + 6 1010 c.688delT c.(688-690)tttfs p.F230fs DFFB_ENST00000338895.3_Frame_Shift_Del_p.F230fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGGTCCCTTTGACATGGA 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false DFFB:1677 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs755710345 3789042 true DFFB __UNKNOWN__ hg19 1 3800159 3800160 + Frame_Shift_Del DEL G G - 777060714 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3800159delG ENST00000378209.3 + 7 1193 c.871delG c.(871-873)ggcfs p.G291fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATTTTTATGGCCTGCTTTT 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false DFFB:1677 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs777060714 3800159 false -RP13-15E13.1 __UNKNOWN__ hg19 1 3821782 3821782 + RNA SNP G G A 11589102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3821782G>A ENST00000442673.1 + c.e1+4587G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAACTAATGTTTTCTTAAT 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8093,0.1907 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748643,0.251357 false false false SNV 0x05010008000517053f000101 1 false 120 rs11589102 3821782 true +C1orf174 __UNKNOWN__ hg19 1 3821782 3821782 + 5'Flank SNP G G A 11589102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3821782G>A ENST00000361605.3 - C1orf174_ENST00000486765.1_5'Flank|RP13-15E13.1_ENST00000442673.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAACTAATGTTTTCTTAAT 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8093,0.1907 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748643,0.251357 false false false SNV 0x05010008000517053f000101 1 false 120 rs11589102 3821782 true RP13-15E13.1 __UNKNOWN__ hg19 1 3822703 3822703 + RNA SNP C C T 10909830 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3822703C>T ENST00000442673.1 + c.e1+5508C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCACCGACGCAGGCCCGG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7055,0.2945 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.663061,0.336939 false false false SNV 0x05010008000517053f000100 1 false 120 rs10909830 3822703 true RP13-15E13.1 __UNKNOWN__ hg19 1 3823395 3823395 + RNA SNP C C T 28973022 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3823395C>T ENST00000442673.1 + c.e1+6200C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCAGATCCACGTCTGCCTCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8087,0.1913 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748918,0.251082 false false false SNV 0x05010008000517053f000100 1 false 125 rs28973022 3823395 true RP13-15E13.1 __UNKNOWN__ hg19 1 3825525 3825525 + RNA SNP C C T 35383955 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3825525C>T ENST00000442673.1 + c.e2-5434C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAAGCGGAGCTCTTG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7456,0.2544 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false false false false SNV 0x05010008000517053e000100 1 false 126 rs35383955 3825525 true RP13-614K11.1 __UNKNOWN__ hg19 1 4002498 4002498 + RNA SNP T T C 7538691 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4002498T>C ENST00000412674.1 + c.e2+1295T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCCACATGCTGAAGTCCTTA 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4375,0.5625 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.405969,0.594031 false false false SNV 0x05010008000517053f000100 1 false 116 rs7538691 4002498 true -PLEKHG5 __UNKNOWN__ hg19 1 6550505 6550505 + 5'UTR SNP C C T 11806429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6550505C>T ENST00000340850.5 - 1 PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377748.1_Intron|PLEKHG5_ENST00000377732.1_Intron|PLEKHG5_ENST00000400915.3_Intron|PLEKHG5_ENST00000377728.3_Intron|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Intron|PLEKHG5_ENST00000377737.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGACTCACCTAGGAACAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8051,0.1949 false false 1 false true true PLEKHG5:57449 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.824748,0.175252 false false true SNV 0x05010048000517053f000100 1 false 120 rs11806429 6550505 true -PLEKHG5 __UNKNOWN__ hg19 1 6556585 6556585 + Missense_Mutation SNP G G A 201669114 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6556585G>A ENST00000377748.1 - 2 610 c.112C>T c.(112-114)Ccc>Tcc p.P38S PLEKHG5_ENST00000400915.3_Missense_Mutation_p.P17S|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P38S|PLEKHG5_ENST00000377732.1_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P40S|PLEKHG5_ENST00000377737.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGGCGGGGTTCTGACAG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false PLEKHG5:57449 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997974,0.00202624 false false false SNV 0x050000000a05040436000100 1 false 137 rs201669114 6556585 true -TAS1R1 __UNKNOWN__ hg19 1 6635346 6635347 + Frame_Shift_Del DEL C C - 867182312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635346delC ENST00000333172.6 + 3 1346 c.1154delC c.(1153-1155)tctfs p.S385fs TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Frame_Shift_Del_p.S385fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATGAGTTCTGCCTACAAC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TAS1R1:80835 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs867182312 6635346 false +PLEKHG5 __UNKNOWN__ hg19 1 6550505 6550505 + 5'UTR SNP C C T 11806429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6550505C>T ENST00000340850.5 - 1 PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377748.1_Intron|PLEKHG5_ENST00000377732.1_Intron|PLEKHG5_ENST00000400915.3_Intron|PLEKHG5_ENST00000377728.3_Intron|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Intron|PLEKHG5_ENST00000377737.2_Intron|PLEKHG5_ENST00000400913.1_5'Flank|PLEKHG5_ENST00000535355.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGACTCACCTAGGAACAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8051,0.1949 false false 1 false true true PLEKHG5:57449 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.824748,0.175252 false false true SNV 0x05010048000517053f000100 1 false 120 rs11806429 6550505 true +PLEKHG5 __UNKNOWN__ hg19 1 6556585 6556585 + Missense_Mutation SNP G G A 201669114 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6556585G>A ENST00000377748.1 - 2 610 c.112C>T c.(112-114)Ccc>Tcc p.P38S PLEKHG5_ENST00000400915.3_Missense_Mutation_p.P17S|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P38S|PLEKHG5_ENST00000377732.1_5'UTR|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P40S|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000377728.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGGCGGGGTTCTGACAG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9994,0.000599 false false 0 false false false PLEKHG5:57449 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997974,0.00202624 false false false SNV 0x050000000a05040436000100 1 false 137 rs201669114 6556585 true +TAS1R1 __UNKNOWN__ hg19 1 6635346 6635347 + Frame_Shift_Del DEL C C - 867182312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635346delC ENST00000333172.6 + 3 1346 c.1154delC c.(1153-1155)tctfs p.S385fs TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Frame_Shift_Del_p.S385fs|ZBTB48_ENST00000377674.4_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATGAGTTCTGCCTACAAC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TAS1R1:80835 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs867182312 6635346 false PER3 __UNKNOWN__ hg19 1 7897139 7897140 + Frame_Shift_Del DEL A A - 773961726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7897139delA ENST00000377532.3 + 20 3702 c.3479delA c.(3478-3480)caafs p.K1161fs PER3_ENST00000361923.2_Frame_Shift_Del_p.K1152fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCATGGGCAAAAGGAGGAG 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PER3:8863 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs773961726 7897139 false -UTS2 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 7913430 true +UTS2 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M|UTS2_ENST00000361696.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 7913430 true PARK7 __UNKNOWN__ hg19 1 8045015 8045020 + In_Frame_Del DEL GCC GCC - 764877312 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8045015_8045017delGCC ENST00000493678.1 + 7 537_539 c.471_473delGCC c.(469-474)gggcct>ggt p.P158del PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCCGGGGGCCTGGGACCAGC 0.4466501240694789 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PARK7:11315 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005040402000200 1 false 144 rs764877312 8045015 true LZIC __UNKNOWN__ hg19 1 9994823 9994824 + Frame_Shift_Del DEL T T - 866608629 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9994823delT ENST00000377223.1 - 5 582 c.333delA c.(331-333)gcafs p.E112fs LZIC_ENST00000377213.1_Frame_Shift_Del_p.E112fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.E112fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.E133fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTTACCTCTGCTAACCTTG 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false LZIC:84328 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 147 rs866608629 9994823 false PGD __UNKNOWN__ hg19 1 10478955 10478956 + Frame_Shift_Del DEL C C - 767877628 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10478955delC ENST00000270776.8 + 11 1219 c.1182delC c.(1180-1182)ttcfs p.F395fs PGD_ENST00000538557.1_Frame_Shift_Del_p.F382fs|PGD_ENST00000541529.1_Frame_Shift_Del_p.F373fs|PGD_ENST00000498356.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGACGACTTCTTTAAGTCAG 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PGD:5226 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs767877628 10478955 false @@ -198,9 +198,9 @@ AADACL3 __UNKNOWN__ hg19 1 12776344 12776344 + 5'UTR SNP A A T 3000859 byFreque PDPN __UNKNOWN__ hg19 1 13933727 13933727 + Missense_Mutation SNP A A G 141726617 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13933727A>G ENST00000509009.1 + 2 156 c.112A>G c.(112-114)Atg>Gtg p.M38V PDPN_ENST00000294489.6_Missense_Mutation_p.M119V|PDPN_ENST00000376057.4_Missense_Mutation_p.M119V|PDPN_ENST00000376061.4_START_CODON_SNP_p.M1V|PDPN_ENST00000513143.1_START_CODON_SNP_p.M1V|PDPN_ENST00000475043.1_START_CODON_SNP_p.M1V|PDPN_ENST00000487038.1_START_CODON_SNP_p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGCGTTGCCATGCCAGGTGC 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9954,0.004593 false false 1 false false false PDPN:10630 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.990487,0.00951302 false false false SNV 0x050000000a05040436000100 1 false 134 rs141726617 13933727 true FHAD1 __UNKNOWN__ hg19 1 15671649 15671649 + Missense_Mutation SNP T T C 200826682 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15671649T>C ENST00000375998.4 + 15 2135 c.2135T>C c.(2134-2136)aTg>aCg p.M712T FHAD1_ENST00000358897.4_Missense_Mutation_p.M712T|FHAD1_ENST00000417793.1_Missense_Mutation_p.M712T|FHAD1_ENST00000375999.3_Missense_Mutation_p.M712T|FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T|FHAD1_ENST00000471347.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGAAGAGAATGCAAGAACTG 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false FHAD1:114827|LOC101927417:101927417 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999554,0.000446459 false false false SNV 0x050000020a05040402000100 1 false 137 rs200826682 15671649 true PADI4 __UNKNOWN__ hg19 1 17634718 17634718 + START_CODON_SNP SNP A A G 141280036 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17634718A>G ENST00000375448.4 + 1 27 c.1A>G c.(1-3)Atg>Gtg p.M1V PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGCCCGACGATGGCCCAGGG 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false PADI4:23569 false true false false true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999176,0.000824232 false false false SNV 0x050200000a05040426000100 1 false 134 rs141280036 17634718 true -ARHGEF10L __UNKNOWN__ hg19 1 17942591 17942591 + Missense_Mutation SNP G G A 201155898 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17942591G>A ENST00000375415.1 + 7 655 c.612G>A c.(610-612)atG>atA p.M204I ARHGEF10L_ENST00000361221.3_Missense_Mutation_p.M243I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M204I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M243I|ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I|ARHGEF10L_ENST00000469726.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCTCAGATGACCCAGCTCA 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false ARHGEF10L:55160 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040426000100 1 false 137 rs201155898 17942591 true +ARHGEF10L __UNKNOWN__ hg19 1 17942591 17942591 + Missense_Mutation SNP G G A 201155898 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17942591G>A ENST00000375415.1 + 7 655 c.612G>A c.(610-612)atG>atA p.M204I ARHGEF10L_ENST00000361221.3_Missense_Mutation_p.M243I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M204I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M243I|ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I|ARHGEF10L_ENST00000167825.4_5'Flank|ARHGEF10L_ENST00000375408.3_5'Flank|ARHGEF10L_ENST00000469726.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCTCAGATGACCCAGCTCA 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false ARHGEF10L:55160 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040426000100 1 false 137 rs201155898 17942591 true NBPF3 __UNKNOWN__ hg19 1 21800057 21800058 + Frame_Shift_Ins INS - - C 747645859 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21800057_21800058insC ENST00000318220.6 + 10 1799 c.751_752insC c.(751-753)gatfs p.D251fs NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.D237fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATGGTTGGATGCTGTATG 0.4525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false NBPF3:84224 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs747645859 21800057 true -ALPL __UNKNOWN__ hg19 1 21896823 21896823 + Missense_Mutation SNP C C T 148405563 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21896823C>T ENST00000374840.3 + 8 1068 c.818C>T c.(817-819)aCg>aTg p.T273M ALPL_ENST00000374832.1_Missense_Mutation_p.T273M|ALPL_ENST00000374830.1_DE_NOVO_START_IN_FRAME|ALPL_ENST00000425315.2_Missense_Mutation_p.T273M|ALPL_ENST00000540617.1_Missense_Mutation_p.T218M|ALPL_ENST00000539907.1_Missense_Mutation_p.T196M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAACCGCACGGAACTCCTG 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ALPL:249 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999244,0.000755546 false false false SNV 0x050200000a05040402000100 1 false 134 rs148405563 21896823 true +ALPL __UNKNOWN__ hg19 1 21896823 21896823 + Missense_Mutation SNP C C T 148405563 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21896823C>T ENST00000374840.3 + 8 1068 c.818C>T c.(817-819)aCg>aTg p.T273M ALPL_ENST00000374832.1_Missense_Mutation_p.T273M|ALPL_ENST00000374830.1_DE_NOVO_START_IN_FRAME|ALPL_ENST00000425315.2_Missense_Mutation_p.T273M|ALPL_ENST00000540617.1_Missense_Mutation_p.T218M|ALPL_ENST00000539907.1_Missense_Mutation_p.T196M|ALPL_ENST00000374829.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAACCGCACGGAACTCCTG 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ALPL:249 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999244,0.000755546 false false false SNV 0x050200000a05040402000100 1 false 134 rs148405563 21896823 true LUZP1 __UNKNOWN__ hg19 1 23435538 23435538 + DE_NOVO_START_IN_FRAME SNP G G A 16827981 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23435538G>A ENST00000302291.4 - 3 LUZP1_ENST00000314174.5_Intron|LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME|LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCTTTCCGTCAATACTTC 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8674,0.1326 false false 1 false true false LUZP1:7798 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.807164,0.192836 false false true SNV 0x050100400005150537000100 1 false 123 rs16827981 23435538 true LUZP1 __UNKNOWN__ hg19 1 23435538 23435539 + DE_NOVO_START_OUT_FRAME INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23435538_23435539insAT ENST00000302291.4 - 3 LUZP1_ENST00000314174.5_Intron|LUZP1_ENST00000418342.1_DE_NOVO_START_OUT_FRAME|LUZP1_ENST00000374623.3_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGCTTTCCGTCAATACTTC 0.4325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false TCEA3 __UNKNOWN__ hg19 1 23751126 23751126 + START_CODON_SNP SNP T T A 200503010 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23751126T>A ENST00000450454.2 - 1 108 c.1A>T c.(1-3)Atg>Ttg p.M1L TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGGCCCATGTTGGCCCGC 0.7506234413965087 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TCEA3:6920 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999794,0.000171715,3.4343e-005 false false false SNV 0x050200000a05040402000100 1 false 137 rs200503010 23751126 true @@ -210,8 +210,8 @@ STPG1 __UNKNOWN__ hg19 1 24687425 24687426 + Frame_Shift_Ins INS - - A 86862162 ZCCHC17 __UNKNOWN__ hg19 1 31791962 31791962 + Missense_Mutation SNP A A G 149257512 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:31791962A>G ENST00000373714.1 + 3 334 c.73A>G c.(73-75)Atg>Gtg p.M25V ZCCHC17_ENST00000344147.5_Missense_Mutation_p.M25V|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.M17V|ZCCHC17_ENST00000422613.2_START_CODON_SNP_p.M1V|ZCCHC17_ENST00000479629.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAGGTTGCTATGGTGACAGA 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 1 false false false ZCCHC17:51538 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.998729,0.00127069 false false true SNV 0x050200400a05040436000100 1 false 134 rs149257512 31791962 true KPNA6 __UNKNOWN__ hg19 1 32620194 32620194 + Missense_Mutation SNP A A G 147022148 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32620194A>G ENST00000373625.3 + 2 103 c.10A>G c.(10-12)Atg>Gtg p.M4V KPNA6_ENST00000537234.1_START_CODON_SNP_p.M1V|KPNA6_ENST00000545542.1_Missense_Mutation_p.M9V|KPNA6_ENST00000469790.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTAGAGACCATGGCGAGCCC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false KPNA6:23633 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs147022148 32620194 true ADPRHL2 __UNKNOWN__ hg19 1 36558985 36558985 + Nonstop_Mutation SNP T T G 183554661 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36558985T>G ENST00000373178.4 + 6 1120 c.1090T>G c.(1090-1092)Tga>Gga p.*364G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAAGAGTTGATGAGGGCT 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false ADPRHL2:54936 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000205040436000100 1 false 135 rs183554661 36558985 true -C1orf50 __UNKNOWN__ hg19 1 43232984 43232984 + START_CODON_SNP SNP T T C 200116115 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43232984T>C ENST00000372525.5 + 1 45 c.2T>C c.(1-3)aTg>aCg p.M1T C1orf50_ENST00000536543.1_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGCTGTCATGGAGGACGCC 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,.,0.0003994 false false 0 false false false P3H1:64175|C1orf50:79078 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999622,0.000171715,0.000206058 false false false SNV 0x050000020a05040436000100 1 false 137 rs200116115 43232984 true -MMACHC __UNKNOWN__ hg19 1 45974886 45974886 + Nonstop_Mutation SNP G G C 201025783 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45974886G>C ENST00000401061.4 + 4 1128 c.848G>C c.(847-849)tGa>tCa p.*283S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGCCCTTGATTTTCTCCC 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MMACHC:25974 false true false true false false false false false false false false false false false false false false false true false false 0 false 0 false 0.999244,0.000240401,0.000515145 false false false SNV 0x050000000205040416000100 1 false 137 rs201025783 45974886 true +C1orf50 __UNKNOWN__ hg19 1 43232984 43232984 + START_CODON_SNP SNP T T C 200116115 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43232984T>C ENST00000372525.5 + 1 45 c.2T>C c.(1-3)aTg>aCg p.M1T C1orf50_ENST00000536543.1_3'UTR|C1orf50_ENST00000468913.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGCTGTCATGGAGGACGCC 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9996,.,0.0003994 false false 0 false false false P3H1:64175|C1orf50:79078 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999622,0.000171715,0.000206058 false false false SNV 0x050000020a05040436000100 1 false 137 rs200116115 43232984 true +MMACHC __UNKNOWN__ hg19 1 45974886 45974886 + Nonstop_Mutation SNP G G C 201025783 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45974886G>C ENST00000401061.4 + 4 1128 c.848G>C c.(847-849)tGa>tCa p.*283S MMACHC_ENST00000477188.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGCCCTTGATTTTCTCCC 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MMACHC:25974 false true false true false false false false false false false false false false false false false false false true false false 0 false 0 false 0.999244,0.000240401,0.000515145 false false false SNV 0x050000000205040416000100 1 false 137 rs201025783 45974886 true KNCN __UNKNOWN__ hg19 1 47013404 47013404 + Nonstop_Mutation SNP A A G 140455646 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47013404A>G ENST00000396314.3 - 3 304 c.304T>C c.(304-306)Tga>Cga p.*102R KNCN_ENST00000481882.2_Nonstop_Mutation_p.*125R|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTGCCTCAGCATTCCTCA 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9964,0.003594 false false 1 false false false MKNK1-AS1:100507423|KNCN:148930 false true true false true false false false false false false false false false false false false false false true false false 0 false 0 false 0.993337,0.00666255 false false false SNV 0x050000080205040426000100 1 false 134 rs140455646 47013404 true MOB3C __UNKNOWN__ hg19 1 47075329 47075329 + Nonstop_Mutation SNP A A G 149444077 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47075329A>G ENST00000371940.1 - 3 3793 c.718T>C c.(718-720)Tga>Cga p.*240R MOB3C_ENST00000271139.8_Nonstop_Mutation_p.*269R|MOB3C_ENST00000319928.3_Nonstop_Mutation_p.*217R|MKNK1_ENST00000545730.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGGGCTCAGTGGCAGATC 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false MOB3C:148932 false true false false false false false false false false false false false false false false false false false true false false 0 true 0 false 0.999931,6.8686e-005 false false false SNV 0x050100000205040402000100 1 false 134 rs149444077 47075329 true TTC4 __UNKNOWN__ hg19 1 55207184 55207185 + Frame_Shift_Ins INS - - AG 775455587 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55207184_55207185insAG ENST00000371281.3 + 10 1249 c.1162_1163insAG c.(1162-1164)tgafs p.L389fs TTC4_ENST00000371284.5_Intron|MROH7-TTC4_ENST00000414150.2_3'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGATACGATGACTAAGCCA 0.51 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false TTC4:7268|MROH7-TTC4:100527960 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true false false false DIV 0x050000000305040402000200 1 false 144 rs775455587 55207184 true @@ -219,25 +219,25 @@ C1orf177 __UNKNOWN__ hg19 1 55307347 55307347 + Intron SNP T T G 147344078 byFr FGGY __UNKNOWN__ hg19 1 60228254 60228254 + Nonstop_Mutation SNP T T C 201875327 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:60228254T>C ENST00000371218.4 + 17 1910 c.1726T>C c.(1726-1728)Tga>Cga p.*576R FGGY_ENST00000371212.1_Nonstop_Mutation_p.*464R|FGGY_ENST00000303721.7_Nonstop_Mutation_p.*552R|FGGY_ENST00000371210.1_Nonstop_Mutation_p.*253R|RP4-782L23.2_ENST00000443012.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATATGCTGACGCCCCTGCAT 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7632,0.2368 false false 1 false true true SGIP1:84251 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.864585,0.135415 false false false SNV 0x05010008000517053f000100 1 false 88 rs1325267 67160814 true WDR78 __UNKNOWN__ hg19 1 67288063 67288064 + Frame_Shift_Ins INS - - CT 754415129 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:67288063_67288064insCT ENST00000371026.3 - 16 2533 c.2476_2477insAG c.(2476-2478)actfs p.T826fs WDR78_ENST00000431318.1_Frame_Shift_Ins_p.T539fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCAAAACAGTAGGCATATT 0.3275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false WDR78:79819 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs754415129 67288063 false -IL12RB2 __UNKNOWN__ hg19 1 67773351 67773351 + DE_NOVO_START_OUT_FRAME SNP C C T 12142823 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:67773351C>T ENST00000262345.1 + 1 IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAAACCACGGGCGCCCGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8325,.,0.1675 false false 1 false true true IL12RB2:3595 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.85727,6.8686e-005,0.142661 false false true SNV 0x05010042000517053e000100 1 false 120 rs12142823 67773351 true +IL12RB2 __UNKNOWN__ hg19 1 67773351 67773351 + DE_NOVO_START_OUT_FRAME SNP C C T 12142823 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:67773351C>T ENST00000262345.1 + 1 IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME|IL12RB2_ENST00000541374.1_5'Flank|IL12RB2_ENST00000544434.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAAACCACGGGCGCCCGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8325,.,0.1675 false false 1 false true true IL12RB2:3595 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.85727,6.8686e-005,0.142661 false false true SNV 0x05010042000517053e000100 1 false 120 rs12142823 67773351 true FPGT-TNNI3K __UNKNOWN__ hg19 1 74671167 74671168 + Intron INS - - TTTC 763292758 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:74671167_74671168insTTTC ENST00000370899.3 + c.e3+4073A>ATTTC FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Frame_Shift_Ins_p.K492fs|FPGT_ENST00000534056.1_Frame_Shift_Ins_p.K225fs|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000609362.1_Frame_Shift_Ins_p.K479fs|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTGAAAAAGAGTGTGAAA 0.395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false FPGT-TNNI3K:100526835|FPGT:8790 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false true false DIV 0x050000881205040402000200 1 false 144 rs763292758 74671167 true -ODF2L __UNKNOWN__ hg19 1 86841963 86841964 + Frame_Shift_Ins INS - - T 867604743 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:86841963_86841964insT ENST00000370566.3 - 8 1130 c.762_763insA c.(763-765)catfs p.H255fs ODF2L_ENST00000359242.3_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.H124fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTAAAATGGTCAAGCCTT 0.2775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ODF2L:57489 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 147 rs867604743 86841963 false +ODF2L __UNKNOWN__ hg19 1 86841963 86841964 + Frame_Shift_Ins INS - - T 867604743 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:86841963_86841964insT ENST00000370566.3 - 8 1130 c.762_763insA c.(763-765)catfs p.H255fs ODF2L_ENST00000359242.3_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.H124fs|ODF2L_ENST00000524695.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTAAAATGGTCAAGCCTT 0.2775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ODF2L:57489 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 147 rs867604743 86841963 false GLMN __UNKNOWN__ hg19 1 92729242 92729243 + Frame_Shift_Ins INS - - G 763357116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:92729242_92729243insG ENST00000370360.3 - 15 1429 c.1346_1347insC c.(1345-1347)cttfs p.L450fs GLMN_ENST00000534881.1_Frame_Shift_Ins_p.L436fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATCAAGAAGGGAAATCA 0.325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false GLMN:11146 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs763357116 92729242 false AGL __UNKNOWN__ hg19 1 100327026 100327026 + Intron SNP C C T 2307129 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:100327026C>T ENST00000294724.4 + c.e3-33C>T AGL_ENST00000361915.3_Intron|AGL_ENST00000370163.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME|AGL_ENST00000361302.3_Intron|AGL_ENST00000370161.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAAGTCCTACGATGAGTTTA 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7728,0.2272 false false 1 false true true AGL:178 true true true true true false false false false false false false false false false true true false false false true false 0 true 0 false 0.729068,0.270932 false false true SNV 0x05012848000517053f000100 1 false 100 rs2307129 100327026 true EPS8L3 __UNKNOWN__ hg19 1 110300600 110300601 + Frame_Shift_Ins INS - - CTGCTGGTTTT 562835845 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110300600_110300601insCTGCTGGTTTT ENST00000369805.3 - 9 1031 c.800_801insAAAACCAGCAG c.(799-801)aagfs p.K269fs EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K268fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K268fs|RP4-735C1.4_ENST00000431955.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATTTCTTCTTCCTGCTGG 0.58 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false EPS8L3:79574|LOC101928585:101928585 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false DIV 0x050000081205040402000200 1 false 142 rs562835845 110300600 true WNT2B __UNKNOWN__ hg19 1 113010195 113010195 + DE_NOVO_START_OUT_FRAME SNP T T G 189656664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:113010195T>G ENST00000256640.5 + 1 WNT2B_ENST00000369686.5_Missense_Mutation_p.I12M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATAAGCATTTTTGGAATTC 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997 false false 0 false false false WNT2B:7482 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false true SNV 0x050000400a05040436000100 1 false 135 rs189656664 113010195 true -AP4B1 __UNKNOWN__ hg19 1 114447565 114447565 + DE_NOVO_START_OUT_FRAME SNP G G A 1217397 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:114447565G>A ENST00000369569.1 - 1 AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCTACCGTCGGCCGGCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6705,0.3295 false false 1 false true false DCLRE1B:64858|AP4B1:10717 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.586304,0.413696 false false true SNV 0x0501004a000515053f000101 1 false 87 rs1217397 114447565 true +AP4B1 __UNKNOWN__ hg19 1 114447565 114447565 + DE_NOVO_START_OUT_FRAME SNP G G A 1217397 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:114447565G>A ENST00000369569.1 - 1 AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCTACCGTCGGCCGGCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6705,0.3295 false false 1 false true false DCLRE1B:64858|AP4B1:10717 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.586304,0.413696 false false true SNV 0x0501004a000515053f000101 1 false 87 rs1217397 114447565 true HMGCS2 __UNKNOWN__ hg19 1 120307172 120307173 + Frame_Shift_Ins INS - - TTGGCCTCCAGGGCCA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA ENST00000369406.3 - 2 232 c.181_182insTGGCCCTGGAGGCCAA c.(181-183)gtcfs p.Y62fs HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.Y62fs|HMGCS2_ENST00000476640.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAAGTAGACCTCCAGGGC 0.4875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -GPATCH4 __UNKNOWN__ hg19 1 156571202 156571202 + Splice_Site SNP G G A 202090190 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:156571202G>A ENST00000438976.2 - 1 61 c.30C>T c.(28-30)gaC>gaT p.D10D GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME|GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCTTACCGTCATTGCTGG 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false GPATCH4:54865 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999279,0.000721203 false false true SNV 0x050000400305040402000100 1 false 137 rs202090190 156571202 true -FMO2 __UNKNOWN__ hg19 1 171154418 171154418 + DE_NOVO_START_OUT_FRAME SNP C C T 28369797 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171154418C>T ENST00000209929.7 + 1 FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTAAAAACGCTTCCAACT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9882,.,0.01178 false false 1 false true false FMO2:2327 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.993028,.,0.00697163 true false true SNV 0x050110400005150537000100 1 false 125 rs28369797 171154418 true -TRAF3IP3 __UNKNOWN__ hg19 1 209932121 209932121 + DE_NOVO_START_OUT_FRAME SNP C C T 10489341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209932121C>T ENST00000367024.1 + 1 TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATTTCCAACGCTCAGGATC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8838,0.1162 false false 1 false true false TRAF3IP3:80342 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.849876,0.150124 false false true SNV 0x05012848000515053f000100 1 false 119 rs10489341 209932121 true +GPATCH4 __UNKNOWN__ hg19 1 156571202 156571202 + Splice_Site SNP G G A 202090190 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:156571202G>A ENST00000438976.2 - 1 61 c.30C>T c.(28-30)gaC>gaT p.D10D GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME|GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME|GPATCH4_ENST00000497287.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCTTACCGTCATTGCTGG 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false GPATCH4:54865 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999279,0.000721203 false false true SNV 0x050000400305040402000100 1 false 137 rs202090190 156571202 true +FMO2 __UNKNOWN__ hg19 1 171154418 171154418 + DE_NOVO_START_OUT_FRAME SNP C C T 28369797 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171154418C>T ENST00000209929.7 + 1 FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|FMO2_ENST00000529935.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTAAAAACGCTTCCAACT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9882,.,0.01178 false false 1 false true false FMO2:2327 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.993028,.,0.00697163 true false true SNV 0x050110400005150537000100 1 false 125 rs28369797 171154418 true +TRAF3IP3 __UNKNOWN__ hg19 1 209932121 209932121 + DE_NOVO_START_OUT_FRAME SNP C C T 10489341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209932121C>T ENST00000367024.1 + 1 TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000010338.4_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATTTCCAACGCTCAGGATC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8838,0.1162 false false 1 false true false TRAF3IP3:80342 true true true true true false false false false false false false false false false true true false false false false false 0 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false true true ADI1:55256 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.805468,0.194532 false false true SNV 0x05010048000517053f000100 1 false 116 rs6422709 3519739 true -ZNF513 __UNKNOWN__ hg19 2 27603003 27603003 + Silent SNP G G A 144091327 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:27603003G>A ENST00000323703.6 - 2 367 c.168C>T c.(166-168)gaC>gaT p.D56D ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTGTTGCCGTCGCCTTCCT 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997,. false false 0 false false false ZNF513:130557 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 true 0.999519,0.000480835,. false false true SNV 0x050000420b05040436000100 1 false 134 rs144091327 27603003 true +ZNF513 __UNKNOWN__ hg19 2 27603003 27603003 + Silent SNP G G A 144091327 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:27603003G>A ENST00000323703.6 - 2 367 c.168C>T c.(166-168)gaC>gaT p.D56D ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME|ZNF513_ENST00000491924.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTGTTGCCGTCGCCTTCCT 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9998,0.0001997,. false false 0 false false false ZNF513:130557 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false false FEZ2:9637 true true false true true false false false false false false true false false false false false false false true true false 0 true 0 false 0.999622,0.000377799 false false false SNV 0x050100000a05040536000100 1 false 126 rs35730082 36818090 true -DHRS9 __UNKNOWN__ hg19 2 169926086 169926086 + DE_NOVO_START_OUT_FRAME SNP C C T 11889286 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169926086C>T ENST00000357546.2 + 2 DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000327239.4_Intron|DHRS9_ENST00000602501.1_Intron|DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000432060.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTCTACGGAAACCCAG 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9786,0.02137 false false 1 false true false DHRS9:10170 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.971118,0.0288825 false false true SNV 0x05010048000515053f000100 1 false 120 rs11889286 169926086 true +DHRS9 __UNKNOWN__ hg19 2 169926086 169926086 + DE_NOVO_START_OUT_FRAME SNP C C T 11889286 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169926086C>T ENST00000357546.2 + 2 DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000327239.4_Intron|DHRS9_ENST00000602501.1_Intron|DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000432060.2_Intron|DHRS9_ENST00000436483.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGAGGTCGAAACAGGATAA 0.3675 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ITGAV:3685 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005000402000200 1 false 144 rs762770151 187487140 false -STK11IP __UNKNOWN__ hg19 2 220462640 220462640 + DE_NOVO_START_IN_FRAME SNP G G T 681747 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:220462640G>T ENST00000456909.1 + 1 STK11IP_ENST00000295641.10_Missense_Mutation_p.R1M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGACGGGGAGGTTCGGTATG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1667,0.8333 false false 1 false true false STK11IP:114790 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.236589,0.763411 false false true SNV 0x05010040000515053f000101 1 false 83 rs681747 220462640 true +STK11IP __UNKNOWN__ hg19 2 220462640 220462640 + DE_NOVO_START_IN_FRAME SNP G G T 681747 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:220462640G>T ENST00000456909.1 + 1 STK11IP_ENST00000295641.10_Missense_Mutation_p.R1M|STK11IP_ENST00000459692.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGACGGGGAGGTTCGGTATG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1667,0.8333 false false 1 false true false STK11IP:114790 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.236589,0.763411 false false true SNV 0x05010040000515053f000101 1 false 83 rs681747 220462640 true LRRFIP1 __UNKNOWN__ hg19 2 238667455 238667456 + In_Frame_Ins INS - - TAA 752147133 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:238667455_238667456insTAA ENST00000308482.9 + 18 1377 c.1308_1309insTAA c.(1309-1311)gaa>TAAgaa p.436_437ins* LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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SLMAP_ENST00000383718.3_Missense_Mutation_p.T64M|SLMAP_ENST00000428312.1_Missense_Mutation_p.T64M|SLMAP_ENST00000449503.2_Missense_Mutation_p.T64M|SLMAP_ENST00000295952.3_Missense_Mutation_p.T64M|SLMAP_ENST00000416870.1_DE_NOVO_START_IN_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCACAAGACGGGCAAGGTA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false SLMAP:7871 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs149291683 57743569 true PIK3CA __UNKNOWN__ hg19 3 178936088 178936089 + In_Frame_Ins INS - - GGT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:178936088_178936089insGGT ENST00000263967.3 + 10 1787 c.1630_1631insGGT c.(1630-1632)act>aGGTct p.T544RS __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGAAATCACTGAGCAGGA 0.3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -266,7 +266,7 @@ PIK3CA __UNKNOWN__ hg19 3 178936090 178936091 + In_Frame_Ins INS - - GAG __UN PIK3CA __UNKNOWN__ hg19 3 178936090 178936091 + Frame_Shift_Ins INS - - GAGC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:178936090_178936091insGAGC ENST00000263967.3 + 10 1789 c.1632_1633insGAGC c.(1633-1635)gagfs p.Q546fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAATCACTGAGCAGGAGA 0.3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PRKG2 __UNKNOWN__ hg19 4 82126215 82126215 + Splice_Site SNP C C A 866277244 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:82126215C>A ENST00000395578.1 - c.e2+1G>T c.e2-1 PRKG2_ENST00000264399.1_DE_NOVO_START_IN_FRAME|PRKG2_ENST00000418486.2_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCAGGGACCTGAGAAGGCA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON true true false false false false false PRKG2:5593 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000200005000402000100 1 false 147 rs866277244 82126215 false MAPK10 __UNKNOWN__ hg19 4 87028376 87028376 + Splice_Site SNP G G A 200989776 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:87028376G>A ENST00000395169.3 - 5 973 c.252C>T c.(250-252)aaC>aaT p.N84N MAPK10_ENST00000395166.1_Splice_Site_p.N84N|MAPK10_ENST00000395160.3_DE_NOVO_START_IN_FRAME|MAPK10_ENST00000395157.3_DE_NOVO_START_IN_FRAME|MAPK10_ENST00000359221.3_Splice_Site_p.N122N|MAPK10_ENST00000361569.2_Splice_Site_p.N122N|MAPK10_ENST00000395161.2_Splice_Site_p.N122N|MAPK10_ENST00000449047.2_DE_NOVO_START_IN_FRAME|MAPK10_ENST00000513839.1_Splice_Site __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAACTCACGTTTTTATGGT 0.39900249376558605 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT true false false false false false false MAPK10:5602 false true false false false false false false false false false false false false false false false false false true false true 0 false 0 true 0.999966,3.4343e-005 false false true SNV 0x050200400305040402000100 1 false 137 rs200989776 87028376 true -IRX4 __UNKNOWN__ hg19 5 1882759 1882760 + START_CODON_INS INS - - AT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:1882759_1882760insAT ENST00000505790.1 - 2 460 c.2_3insAT IRX4_ENST00000231357.2_START_CODON_INS_|IRX4_ENST00000513692.1_START_CODON_INS_ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGTAGGACATGGCGGGCG 0.72 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +IRX4 __UNKNOWN__ hg19 5 1882759 1882760 + START_CODON_INS INS - - AT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:1882759_1882760insAT ENST00000505790.1 - 2 460 c.2_3insAT IRX4_ENST00000231357.2_START_CODON_INS_|IRX4_ENST00000513692.1_START_CODON_INS_|IRX4_ENST00000505938.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGTAGGACATGGCGGGCG 0.72 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false RARS2 __UNKNOWN__ hg19 6 88255395 88255400 + In_Frame_Del DEL TTT TTT - 757743894 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:88255395_88255397delTTT ENST00000369536.5 - 7 521_523 c.472_474delAAA c.(472-474)aaadel p.K158del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAAGCTTCTTTGAGATTTGCT 0.2903225806451613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false RARS2:57038 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false 0.999966,3.4343e-005 false false false DIV 0x050000000005040402000200 1 false 144 rs757743894 88255395 true EIF3A __UNKNOWN__ hg19 10 120795682 120795705 + In_Frame_Del DEL CTCGGTCTCTTG CTCGGTCTCTTG - 766037789 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:120795682_120795693delCTCGGTCTCTTG ENST00000369144.3 - 22 4147_4158 c.4007_4018delCAAGAGACCGAG c.(4006-4020)tcaagagaccgagaa>taa p.1336_1340SRDRE>* EIF3A_ENST00000541549.1_In_Frame_Del_p.1302_1306SRDRE>* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG 0.3859223300970874 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false EIF3A:8661 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005000402000200 1 false 144 rs766037789 120795682 false TAS2R43 __UNKNOWN__ hg19 12 11243924 11243935 + In_Frame_Del DEL TTCACC TTCACC - 867813065 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:11243924_11243929delTTCACC ENST00000531678.1 - 1 990_995 c.900_905delGGTGAA c.(898-906)tgggtgaaa>tga p.300_302WVK>* TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTCTCCTTTCACCCAGTACCTCA 0.35714285714285715 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PRH1-TAS2R14:106707243|TAS2R43:259289|PRH1:5554|PRH1-PRR4:100533464 false true true false false false false false true false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000080005000402000210 1 false 147 rs867813065 11243924 false diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf index 0a2445e9f68..8cf836e21ae 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet1_expected.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 ##Funcotator Version=0.0.5 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 -##GATKCommandLine= +##GATKCommandLine= ##INFO= ##contig= ##contig= @@ -95,7 +95,7 @@ chr1 752566 rs3094315 G A . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752566|75 chr1 752721 rs3131972 A G . PASS FUNCOTATION=[RP11-206L10.10|hg19|chr1|752721|752721|RNA||SNP|A|A|G|g.chr1:752721A>G|ENST00000435300.1|-|||c.e1-32T>C|||0.486284289276808|AGAAAGGAAAAGGGAAGAATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3466_%2C_0.6534|false|false|1||false|true|true|FAM87B:400728|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3131972|752721|true|false|0|true|0|false|0.393296_%2C_0.606704|false|false|false|SNV|true|0x05010002000517053f000100|1|false|103|rs3131972] chr1 762320 exm2268640 C T . PASS FUNCOTATION=[LINC00115|hg19|chr1|762320|762320|LINCRNA||SNP|C|C|T|g.chr1:762320C>T|ENST00000473798.1|-|||c.e1-582G>A|||0.6084788029925187|ACCCAACAGTCACCGCTAGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9305_%2C_0.06949|false|false|1||false|true|false|LINC01128:643837_%7C_LINC00115:79854|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|75333668|762320|false|false|0|true|0|false||false|false|false|SNV|true|0x050100020005150436000100|1|false|131|rs75333668] chr1 798959 rs11240777 G A . PASS FUNCOTATION=[Unknown|hg19|chr1|798959|798959|IGR||SNP|G|G|A|g.chr1:798959G>A|no_transcript|||||||0.4089775561097257|TGGGCTTTAAGGTATGACTAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 838555 rs4970383 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|838555|838555|IGR||SNP|C|C|A|g.chr1:838555C>A|no_transcript|||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 838555 rs4970383 C A . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|838555|838555|FIVE_PRIME_FLANK||SNP|C|C|A|g.chr1:838555C>A|ENST00000607769.1|+||||||0.5511221945137157|GACCCCATTTCACCTTAATCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 846808 rs4475691 C T . PASS FUNCOTATION=[RP11-54O7.16|hg19|chr1|846808|846808|LINCRNA||SNP|C|C|T|g.chr1:846808C>T|ENST00000607769.1|+|||c.e2-4322C>T|||0.6059850374064838|TGGTGAGCTGCGCCTTTGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7452_%2C_0.2548|false|false|1||false|true|true|LOC284600:284600|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|4475691|846808|false|false|0|true|0|false|0.725634_%2C_0.274366|false|false|false|SNV|true|0x05010002000517053e000100|1|false|111|rs4475691] chr1 861349 exm41 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|861349|861349|MISSENSE||SNP|C|C|T|g.chr1:861349C>T|ENST00000342066.3|+|2|111|c.28C>T|c.(28-30)Cct>Tct|p.P10S|0.6533665835411472|GCAGGTGCATCCTCCGATCTG|AL645608.1_ENST00000598827.1_MISSENSE_p.G84E|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200686669|861349|false|false|0|false|0|false||false|false|false|SNV|true|0x050000000a05040402000100|1|false|137|rs200686669] chr1 861808 rs13302982 A G . PASS FUNCOTATION=[SAMD11|hg19|chr1|861808|861808|INTRON||SNP|A|A|G|g.chr1:861808A>G|ENST00000342066.3|+|||c.e2+415A>G|||0.6134663341645885|GGACGACAGCATTTTGGGGAG|AL645608.1_ENST00000598827.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3177_%2C_0.6823|false|false|1||false|true|false|SAMD11:148398|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|13302982|861808|false|false|0|true|0|false|0.289649_%2C_0.710351|false|false|false|SNV|true|0x05010008000515053f000100|1|false|121|rs13302982] @@ -108,42 +108,42 @@ chr1 865665 exm53 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|865665|865665|MISSENS chr1 865694 exm55 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865694|865694|MISSENSE||SNP|C|C|T|g.chr1:865694C>T|ENST00000342066.3|+|3|315|c.232C>T|c.(232-234)Cac>Tac|p.H78Y|0.6359102244389028|GGATGGTCCGCACATCCGTAT|AL645608.1_ENST00000598827.1_MISSENSE_p.C18Y|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9475_%2C_0.05252|false|false|1||false|true|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|9988179|865694|false|false|0|true|0|false|0.976441_%2C_0.0235593|false|false|false|SNV|true|0x050100000a05150436000100|1|false|119|rs9988179] chr1 865700 exm56 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|865700|865700|MISSENSE||SNP|C|C|T|g.chr1:865700C>T|ENST00000342066.3|+|3|321|c.238C>T|c.(238-240)Cgt>Tgt|p.R80C|0.6384039900249376|TCCGCACATCCGTATCATGAA|AL645608.1_ENST00000598827.1_MISSENSE_p.R16Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SAMD11:148398|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|116730894|865700|false|false|0|true|0|false|0.997802_%2C_0.00219795|false|false|false|SNV|true|0x050100000a05040436000100|1|false|132|rs116730894] chr1 866429 exm60 C T . PASS FUNCOTATION=[SAMD11|hg19|chr1|866429|866429|MISSENSE||SNP|C|C|T|g.chr1:866429C>T|ENST00000342066.3|+|4|348|c.265C>T|c.(265-267)Cac>Tac|p.H89Y|0.6384039900249376|AGTCCACACCCACTGGGACGT|AL645608.1_ENST00000598827.1_NONSENSE_p.W6*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144317111|866429|false|false|0|false|0|false|0.999691_%2C_0.000309108|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs144317111] -chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471] +chr1 871276 exm85 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|871276|871276|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:871276G>A|ENST00000342066.3|+|5|513|c.430G>A|c.(430-432)Ggt>Agt|p.G144S|0.6758104738154613|GCGACCCGCCGGTGAGGAGCA|SAMD11_ENST00000478729.1_FIVE_PRIME_FLANK/AL645608.1_ENST00000598827.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|146347471|871276|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs146347471] chr1 878697 exm151 G A . PASS FUNCOTATION=[SAMD11|hg19|chr1|878697|878697|NONSENSE||SNP|G|G|A|g.chr1:878697G>A|ENST00000342066.3|+|12|1712|c.1629G>A|c.(1627-1629)tgG>tgA|p.W543*|0.6458852867830424|TCACCAAGTGGACCGTGGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|147226614|878697|false|true|0|false|0|false||false|false|false|SNV|true|0x050200080605040402000100|1|false|134|rs147226614] chr1 880167 exm2253572 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880167|880167|SILENT||SNP|G|G|A|g.chr1:880167G>A|ENST00000327044.6|-|19|2207|c.2157C>T|c.(2155-2157)gaC>gaT|p.D719D|0.6134663341645885|CCGCCTCTGCGTCTGGGTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SAMD11:148398_%7C_NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|true|201894720|880167|false|false|0|false|0|true||false|false|false|SNV|true|0x050000040305040402000100|1|false|137|rs201894720] chr1 880943 exm249 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|880943|880943|SILENT||SNP|G|G|A|g.chr1:880943G>A|ENST00000327044.6|-|17|2058|c.2008C>T|c.(2008-2010)Ctg>Ttg|p.L670L|0.6159600997506235|GAGCTGTTCAGGTCAAAGAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198_%2C_.|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113650656|880943|false|false|0|true|0|true|0.998489_%2C_0.00144241_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000b05040536000100|1|false|132|rs113650656] chr1 881554 exm255 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|881554|881554|SPLICE_SITE|MISSENSE|SNP|C|C|T|g.chr1:881554C>T|ENST00000327044.6|-|16|1966|c.1916G>A|c.(1915-1917)cGg>cAg|p.R639Q|0.628428927680798|GAGCCGCACCCGCTCTTTGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147322750|881554|false|false|0|false|0|false|0.999725_%2C_0.000274744|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147322750] chr1 881627 exm2253575 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|881627|SILENT||SNP|G|G|A|g.chr1:881627G>A|ENST00000327044.6|-|16|1893|c.1843C>T|c.(1843-1845)Ctg>Ttg|p.L615L|0.6408977556109726|TACAAGGTCAGGGGTGTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5581_%2C_0.4419|false|false|1||false|true|true|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|2272757|881627|true|false|0|true|0|true|0.601312_%2C_0.398688|false|false|false|SNV|true|0x050100000305170536000100|1|false|100|rs2272757] chr1 887521 variant.16 T C . PASS FUNCOTATION=[NOC2L|hg19|chr1|887521|887521|SPLICE_SITE|INTRON|SNP|T|T|C|g.chr1:887521T>C|ENST00000327044.6|-|||c.e11+2A>G|c.e11-2||0.6059850374064838|GTATGTTTCCTGGTCAGAGAG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|377598297|887521|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|138|rs377598297] -chr1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075] -chr1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789] -chr1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958] -chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763] -chr1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010] -chr1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058] +chr1 891309 exm360 C T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891309|891309|MISSENSE||SNP|C|C|T|g.chr1:891309C>T|ENST00000327044.6|-|6|742|c.692G>A|c.(691-693)aGc>aAc|p.S231N|0.5960099750623441|TTACCTGCTGCTATCCTTTGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|NOC2L:26155|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148852075|891309|false|false|0|false|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050000000a05040426000100|1|false|134|rs148852075] +chr1 891358 exm369 G T . PASS FUNCOTATION=[NOC2L|hg19|chr1|891358|891358|MISSENSE||SNP|G|G|T|g.chr1:891358G>T|ENST00000327044.6|-|6|693|c.643C>A|c.(643-645)Ctc>Atc|p.L215I|0.5910224438902744|CAGCCAATGAGGTCTCTGATG|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_._%2C_0.000599|false|false|0||false|false|false|NOC2L:26155|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147225789|891358|false|false|0|true|0|false|0.999107_%2C_6.8686e-005_%2C_0.000824232|false|false|false|SNV|true|0x050100000a05040436000100|1|false|134|rs147225789] +chr1 891384 exm371 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891384|891384|MISSENSE||SNP|G|G|A|g.chr1:891384G>A|ENST00000327044.6|-|6|667|c.617C>T|c.(616-618)gCt>gTt|p.A206V|0.57356608478803|GGTAACCAGAGCATTGAATGC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NOC2L:26155|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|139726958|891384|false|false|0|false|0|false|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs139726958] +chr1 891393 exm372 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|891393|891393|SPLICE_SITE|MISSENSE|SNP|G|G|A|g.chr1:891393G>A|ENST00000327044.6|-|6|658|c.608C>T|c.(607-609)gCa>gTa|p.A203V|0.5785536159600998|AGCATTGAATGCTGCAACGAA|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|113620763|891393|false|false|0|true|0|false|0.998523_%2C_0.00147675|false|false|false|SNV|true|0x050100000a05040536000100|1|false|132|rs113620763] +chr1 894573 exm2264981 G A . PASS FUNCOTATION=[NOC2L|hg19|chr1|894573|894573|INTRON||SNP|G|G|A|g.chr1:894573G>A|ENST00000327044.6|-|||c.e1-22C>T|||0.6932668329177057|AGGCCAAATCGGCCCTCGGAC|KLHL17_ENST00000338591.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3656_%2C_0.6344|false|false|1||false|true|true|KLHL17:339451_%7C_NOC2L:26155|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303010|894573|false|false|0|true|0|false|0.400467_%2C_0.599533|false|false|false|SNV|true|0x0501000a000517053f000100|1|false|121|rs13303010] +chr1 900427 exm596 G A . PASS FUNCOTATION=[KLHL17|hg19|chr1|900427|900427|SILENT||SNP|G|G|A|g.chr1:900427G>A|ENST00000338591.3|+|12|1892|c.1785G>A|c.(1783-1785)gaG>gaA|p.E595E|0.6508728179551122|ACTCCATCGAGAAGTACAACC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9649_%2C_0.03514|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|115741058|900427|false|true|0|true|0|true|0.949413_%2C_0.0505873|false|false|false|SNV|true|0x05030002030515043e000100|1|false|132|rs115741058] chr1 904165 rs28391282 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|904165|904165|INTRON||SNP|G|G|A|g.chr1:904165G>A|ENST00000379410.3|+|||c.e3-1492G>A|||0.57356608478803|TAAGGAGGGGGGTCAGGACTG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8982_%2C_0.1018|false|false|1||false|true|false|PLEKHN1:84069|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28391282|904165|false|false|0|true|0|false|0.908098_%2C_0.0919019|false|false|false|SNV|true|0x05010008000515053f000100|1|false|125|rs28391282] chr1 906472 exm1918903 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906472|906472|INTRON||SNP|G|G|A|g.chr1:906472G>A|ENST00000379410.3|+|||c.e7-21G>A|||0.7082294264339152|CTGCGGAGACGAACTCCCCTG|PLEKHN1_ENST00000379407.3_MISSENSE_p.E210K/PLEKHN1_ENST00000379409.2_MISSENSE_p.E250K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680039|906472|false|false|0|false|0|false|0.999347_%2C_0.000652517|false|false|false|SNV|true|0x050000080a05040436000100|1|false|137|rs201680039] chr1 908390 exm739 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908390|908390|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:908390G>A|ENST00000379410.3|+|11|1187|c.1152G>A|c.(1150-1152)ccG>ccA|p.P384P|0.6583541147132169|AGCACACACCGGTGAGCGCTT|PLEKHN1_ENST00000379407.3_SPLICE_SITE_p.P396P/PLEKHN1_ENST00000379409.2_SPLICE_SITE_p.P436P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|148169601|908390|false|false|0|false|0|true|0.999897_%2C_0.000103029|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs148169601] chr1 908585 exm741 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908585|908585|MISSENSE||SNP|G|G|A|g.chr1:908585G>A|ENST00000379410.3|+|12|1207|c.1172G>A|c.(1171-1173)cGt>cAt|p.R391H|0.6633416458852868|AACTCTGACCGTGCCAGCATT|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_MISSENSE_p.R443H|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PLEKHN1:84069|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|76884838|908585|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080a05000436000100|1|false|131|rs76884838] chr1 908587 exm742 G A . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|908587|908587|MISSENSE||SNP|G|G|A|g.chr1:908587G>A|ENST00000379410.3|+|12|1209|c.1174G>A|c.(1174-1176)Gcc>Acc|p.A392T|0.6633416458852868|CTCTGACCGTGCCAGCATTGG|PLEKHN1_ENST00000379407.3_INTRON/PLEKHN1_ENST00000379409.2_MISSENSE_p.A444T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHN1:84069|false|true|true|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|375212442|908587|false|false|0|false|0|false|0.998626_%2C_0.00137372|false|false|false|SNV|true|0x050000080a05040426000100|1|false|138|rs375212442] chr1 909320 exm2253598 C T . PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909320|909320|SILENT||SNP|C|C|T|g.chr1:909320C>T|ENST00000379410.3|+|14|1577|c.1542C>T|c.(1540-1542)ccC>ccT|p.P514P|0.6957605985037406|CCTCCGGCCCCGCTGGCCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.P479P/PLEKHN1_ENST00000379409.2_SILENT_p.P566P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|PLEKHN1:84069|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|144710974|909320|false|false|0|false|0|true|0.998077_%2C_0.00192334|false|false|false|SNV|true|0x050000000305040436000100|1|false|134|rs144710974] -chr1 918573 rs2341354 A G . PASS FUNCOTATION=[Unknown|hg19|chr1|918573|918573|IGR||SNP|A|A|G|g.chr1:918573A>G|no_transcript|||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 918573 rs2341354 A G . PASS FUNCOTATION=[C1orf170|hg19|chr1|918573|918573|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:918573A>G|ENST00000341290.2|-||||||0.6408977556109726|CGAACCTCTCACATTTCCAGG|C1orf170_ENST00000433179.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 928836 rs9777703 C T . PASS FUNCOTATION=[Unknown|hg19|chr1|928836|928836|IGR||SNP|C|C|T|g.chr1:928836C>T|no_transcript|||||||0.5985037406483791|TTCCTAAAGCCGAACTGGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 932457 rs1891910 G A . PASS FUNCOTATION=[RP11-54O7.17|hg19|chr1|932457|932457|LINCRNA||SNP|G|G|A|g.chr1:932457G>A|ENST00000606034.1|-|||c.e1-974C>T|||0.6408977556109726|CATTCAAAGGGATGGATTAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8684_%2C_0.1316_%2C_.|false|false|1||false|true|false||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1891910|932457|false|false|0|true|0|false|0.840569_%2C_0.159397_%2C_3.43454e-005|false|false|false|SNV|true|0x05010000000515053f000100|1|false|92|rs1891910] -chr1 934735 exm860 A C . PASS FUNCOTATION=[HES4|hg19|chr1|934735|934735|MISSENSE||SNP|A|A|C|g.chr1:934735A>C|ENST00000304952.6|-|4|508|c.370T>G|c.(370-372)Ttc>Gtc|p.F124V|0.7805486284289277|CCGGCCAGGAAGCGGTTCACC|HES4_ENST00000428771.2_MISSENSE_p.F150V/HES4_ENST00000484667.2_MISSENSE_p.F92V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200527634|934735|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200527634] -chr1 934770 exm861 G A . PASS FUNCOTATION=[HES4|hg19|chr1|934770|934770|MISSENSE||SNP|G|G|A|g.chr1:934770G>A|ENST00000304952.6|-|4|473|c.335C>T|c.(334-336)gCc>gTc|p.A112V|0.7680798004987531|GTGGAAGCCGGCGCGGTACTT|HES4_ENST00000428771.2_MISSENSE_p.A138V/HES4_ENST00000484667.2_MISSENSE_p.A80V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201391049|934770|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201391049] -chr1 934801 exm866 C T . PASS FUNCOTATION=[HES4|hg19|chr1|934801|934801|MISSENSE||SNP|C|C|T|g.chr1:934801C>T|ENST00000304952.6|-|4|442|c.304G>A|c.(304-306)Gcc>Acc|p.A102T|0.7581047381546134|GCGGGGTCGGCGCTGAGCGCG|HES4_ENST00000428771.2_MISSENSE_p.A128T/HES4_ENST00000484667.2_MISSENSE_p.A70T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9974_%2C_0.002596|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200512735|934801|false|false|0|false|0|false|0.999313_%2C_0.00068686|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200512735] -chr1 935085 exm878 G A . PASS FUNCOTATION=[HES4|hg19|chr1|935085|935085|MISSENSE||SNP|G|G|A|g.chr1:935085G>A|ENST00000304952.6|-|2|329|c.191C>T|c.(190-192)gCc>gTc|p.A64V|0.7107231920199502|TTTTCTGAGGGCGTCCAGGAT|HES4_ENST00000428771.2_MISSENSE_p.A90V/HES4_ENST00000484667.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|HES4:57801|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144665333|935085|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000080a05040436000100|1|false|134|rs144665333] -chr1 935089 exm880 C G . PASS FUNCOTATION=[HES4|hg19|chr1|935089|935089|MISSENSE||SNP|C|C|G|g.chr1:935089C>G|ENST00000304952.6|-|2|325|c.187G>C|c.(187-189)Gac>Cac|p.D63H|0.7107231920199502|CTGAGGGCGTCCAGGATGAGG|HES4_ENST00000428771.2_MISSENSE_p.D89H/HES4_ENST00000484667.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|HES4:57801|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144493256|935089|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080a05040402000100|1|false|134|rs144493256] -chr1 944564 rs3128117 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|944564|944564|IGR||SNP|T|T|C|g.chr1:944564T>C|no_transcript|||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 934735 exm860 A C . PASS FUNCOTATION=[HES4|hg19|chr1|934735|934735|MISSENSE||SNP|A|A|C|g.chr1:934735A>C|ENST00000304952.6|-|4|508|c.370T>G|c.(370-372)Ttc>Gtc|p.F124V|0.7805486284289277|CCGGCCAGGAAGCGGTTCACC|HES4_ENST00000428771.2_MISSENSE_p.F150V/HES4_ENST00000484667.2_MISSENSE_p.F92V/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9986_%2C_0.001398|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200527634|934735|false|false|0|false|0|false|0.99763_%2C_0.00236967|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200527634] +chr1 934770 exm861 G A . PASS FUNCOTATION=[HES4|hg19|chr1|934770|934770|MISSENSE||SNP|G|G|A|g.chr1:934770G>A|ENST00000304952.6|-|4|473|c.335C>T|c.(334-336)gCc>gTc|p.A112V|0.7680798004987531|GTGGAAGCCGGCGCGGTACTT|HES4_ENST00000428771.2_MISSENSE_p.A138V/HES4_ENST00000484667.2_MISSENSE_p.A80V/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201391049|934770|false|false|0|false|0|false|0.999451_%2C_0.000549488|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201391049] +chr1 934801 exm866 C T . PASS FUNCOTATION=[HES4|hg19|chr1|934801|934801|MISSENSE||SNP|C|C|T|g.chr1:934801C>T|ENST00000304952.6|-|4|442|c.304G>A|c.(304-306)Gcc>Acc|p.A102T|0.7581047381546134|GCGGGGTCGGCGCTGAGCGCG|HES4_ENST00000428771.2_MISSENSE_p.A128T/HES4_ENST00000484667.2_MISSENSE_p.A70T/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9974_%2C_0.002596|false|false|1||false|false|false|HES4:57801|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200512735|934801|false|false|0|false|0|false|0.999313_%2C_0.00068686|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs200512735] +chr1 935085 exm878 G A . PASS FUNCOTATION=[HES4|hg19|chr1|935085|935085|MISSENSE||SNP|G|G|A|g.chr1:935085G>A|ENST00000304952.6|-|2|329|c.191C>T|c.(190-192)gCc>gTc|p.A64V|0.7107231920199502|TTTTCTGAGGGCGTCCAGGAT|HES4_ENST00000428771.2_MISSENSE_p.A90V/HES4_ENST00000484667.2_INTRON/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|HES4:57801|false|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144665333|935085|false|false|0|false|0|false|0.999004_%2C_0.000995948|false|false|false|SNV|true|0x050000080a05040436000100|1|false|134|rs144665333] +chr1 935089 exm880 C G . PASS FUNCOTATION=[HES4|hg19|chr1|935089|935089|MISSENSE||SNP|C|C|G|g.chr1:935089C>G|ENST00000304952.6|-|2|325|c.187G>C|c.(187-189)Gac>Cac|p.D63H|0.7107231920199502|CTGAGGGCGTCCAGGATGAGG|HES4_ENST00000428771.2_MISSENSE_p.D89H/HES4_ENST00000484667.2_INTRON/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|HES4:57801|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|144493256|935089|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080a05040402000100|1|false|134|rs144493256] +chr1 944564 rs3128117 T C . PASS FUNCOTATION=[ISG15|hg19|chr1|944564|944564|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:944564T>C|ENST00000379389.4|+||||||0.47880299251870323|AGAATACATTTCTGTGGTGTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 981345 exm1123 C T . PASS FUNCOTATION=[AGRN|hg19|chr1|981345|981345|SPLICE_SITE|SILENT|SNP|C|C|T|g.chr1:981345C>T|ENST00000379370.2|+|16|2732|c.2682C>T|c.(2680-2682)gaC>gaT|p.D894D|0.6583541147132169|GTGCCCCAGACGCTTCTGCGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.998_%2C_0.001997|false|false|1||false|false|false|AGRN:375790|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|118105080|981345|false|false|0|true|0|true|0.99976_%2C_0.000240401|false|false|false|SNV|true|0x050128000305040436000100|1|false|132|rs118105080] -chr1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136] +chr1 990417 rs2465136 T C . PASS FUNCOTATION=[AGRN|hg19|chr1|990417|990417|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:990417T>C|ENST00000379370.2|+|36|||||0.6458852867830424|GTAAACTTGTTGCTTTTTGAT|RP11-54O7.14_ENST00000418300.1_RNA/RP11-465B22.3_ENST00000427998.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.616_%2C_0.384|false|false|1||false|true|true|AGRN:375790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|2465136|990417|true|false|0|true|0|false|0.565114_%2C_0.434886|false|true|false|SNV|true|0x05010080000517053f000100|1|false|100|rs2465136] chr1 998395 rs7526076 A G . PASS FUNCOTATION=[RP11-465B22.3|hg19|chr1|998395|998395|RNA||SNP|A|A|G|g.chr1:998395A>G|ENST00000427998.1|+|||c.e3-64A>G|||0.655860349127182|CGTGGAAACAATGAGGGAGGT|RP11-54O7.18_ENST00000442292.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1777_%2C_0.8223|false|false|1||false|true|true|LOC100288175:100288175|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7526076|998395|false|false|0|true|0|false|0.225771_%2C_0.774229|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7526076] chr1 1062638 rs9442373 C A . PASS FUNCOTATION=[Unknown|hg19|chr1|1062638|1062638|IGR||SNP|C|C|A|g.chr1:1062638C>A|no_transcript|||||||0.543640897755611|CCCGGCCCGCCGCAGCTTTAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1066403 rs10907182 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1066403|1066403|IGR||SNP|T|T|C|g.chr1:1066403T>C|no_transcript|||||||0.5935162094763092|GGTCCGGCAATGGCATCCCAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 1097335 rs9442385 T G . PASS FUNCOTATION=[Unknown|hg19|chr1|1097335|1097335|IGR||SNP|T|T|G|g.chr1:1097335T>G|no_transcript|||||||0.6309226932668329|GGGCTCTTCCTCTGGGAGATG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1106784 rs4442317 T C . PASS FUNCOTATION=[Unknown|hg19|chr1|1106784|1106784|IGR||SNP|T|T|C|g.chr1:1106784T>C|no_transcript|||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590] +chr1 1106784 rs4442317 T C . PASS FUNCOTATION=[TTLL10|hg19|chr1|1106784|1106784|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:1106784T>C|ENST00000379289.1|+||||||0.6683291770573566|GAAGGGCCAGTTCTGGAGAGG|TTLL10_ENST00000379290.1_FIVE_PRIME_FLANK/TTLL10_ENST00000506177.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 1115954 exm1571 C T . PASS FUNCOTATION=[TTLL10|hg19|chr1|1115954|1115954|NONSENSE||SNP|C|C|T|g.chr1:1115954C>T|ENST00000379290.1|+|7|771|c.598C>T|c.(598-600)Cga>Tga|p.R200*|0.6907730673316709|GGTCAAGAGCCGAGACAGCTA|TTLL10_ENST00000379289.1_NONSENSE_p.R200*/TTLL10_ENST00000379288.3_NONSENSE_p.R127*/TTLL10-AS1_ENST00000379317.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TTLL10:254173|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|191284590|1115954|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000605040436000100|1|false|135|rs191284590] chr1 1120536 psy_rs77950429 G A . PASS FUNCOTATION=[TTLL10|hg19|chr1|1120536|1120536|INTRON||SNP|G|G|A|g.chr1:1120536G>A|ENST00000379290.1|+|||c.e13+47G>A|||0.6384039900249376|CCCTCGGGGCGGGGGTGTGTG|TTLL10_ENST00000379289.1_INTRON/TTLL10_ENST00000379288.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9483_%2C_0.05172|false|false|1||false|true|false|TTLL10:254173|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|77950429|1120536|false|false|0|true|0|false|0.976578_%2C_0.0234219|false|true|false|SNV|true|0x050100880005150536000100|1|false|131|rs77950429] chr1 1138913 rs3819001 T C . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1138913|1138913|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:1138913T>C|ENST00000379268.2|-|5|||||0.6783042394014963|TTATTGAAGGTCCCCTGCAGC|TNFRSF18_ENST00000328596.6_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8015_%2C_0.1985|false|false|1||false|true|false|TNFRSF18:8784|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3819001|1138913|true|false|0|true|0|false|0.781922_%2C_0.218078|false|true|false|SNV|true|0x05010080000515053f000100|1|false|107|rs3819001] chr1 1139062 exm1677 G A . PASS FUNCOTATION=[TNFRSF18|hg19|chr1|1139062|1139062|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:1139062G>A|ENST00000379268.2|-|5|||||0.685785536159601|CGCGGCCGCCGAACTGCATGG|TNFRSF18_ENST00000328596.6_MISSENSE_p.S226L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|TNFRSF18:8784|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200799216|1139062|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|SNV|true|0x050000800a05040436000100|1|false|137|rs200799216] @@ -154,40 +154,40 @@ chr1 1152971 exm1812 T C . PASS FUNCOTATION=[SDF4|hg19|chr1|1152971|1152971|MISS chr1 1153047 exm1822 C T . PASS FUNCOTATION=[SDF4|hg19|chr1|1153047|1153047|MISSENSE||SNP|C|C|T|g.chr1:1153047C>T|ENST00000360001.6|-|7|1197|c.934G>A|c.(934-936)Gag>Aag|p.E312K|0.6633416458852868|GCGTTGTACTCGTTCATGGGG|SDF4_ENST00000263741.7_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SDF4:51150|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201770843|1153047|false|true|0|false|0|false|0.999794_%2C_0.000206058|false|true|false|SNV|true|0x050200800a05040402000100|1|false|137|rs201770843] chr1 1178848 exm1965 G A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1178848|1178848|NONSENSE||SNP|G|G|A|g.chr1:1178848G>A|ENST00000330388.2|-|5|648|c.616C>T|c.(616-618)Cag>Tag|p.Q206*|0.71571072319202|GCAGAGAACTGGAAGATGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9968_%2C_0.003195|false|false|1||false|false|false|FAM132A:388581|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|115005664|1178848|false|false|0|false|0|false|0.993474_%2C_0.00652562|false|false|false|SNV|true|0x050000000605040436000100|1|false|132|rs115005664] chr1 1179619 exm1987 C A . PASS FUNCOTATION=[FAM132A|hg19|chr1|1179619|1179619|NONSENSE||SNP|C|C|A|g.chr1:1179619C>A|ENST00000330388.2|-|3|363|c.331G>T|c.(331-333)Gaa>Taa|p.E111*|0.6982543640897756|GCGGTCACTTCTGCACCTGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FAM132A:388581|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|201741650|1179619|false|false|0|false|0|false|0.999966_%2C_3.43454e-005|false|false|false|SNV|true|0x050000000605040402000100|1|false|137|rs201741650] -chr1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[RP5-902P8.10|hg19|chr1|1211292|1211292|LINCRNA||SNP|C|C|T|g.chr1:1211292C>T|ENST00000453732.1|+|||c.e1+613C>T|||0.44389027431421446|ATGTTATAGGCAGATTCAAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064] -chr1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715] +chr1 1211292 exm-rs6685064 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1211292|1211292|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:1211292C>T|ENST00000338555.2|+||||||0.44389027431421446|ATGTTATAGGCAGATTCAAAA|UBE2J2_ENST00000347370.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000348298.7_FIVE_PRIME_FLANK/UBE2J2_ENST00000349431.6_FIVE_PRIME_FLANK/UBE2J2_ENST00000360466.2_FIVE_PRIME_FLANK/SCNN1D_ENST00000379116.5_FIVE_PRIME_FLANK/UBE2J2_ENST00000400929.2_FIVE_PRIME_FLANK/UBE2J2_ENST00000400930.4_FIVE_PRIME_FLANK/UBE2J2_ENST00000491779.1_FIVE_PRIME_FLANK/RP5-902P8.10_ENST00000453732.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5695_%2C_0.4305|false|false|1||false|true|false|LOC101928895:101928895|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6685064|1211292|false|false|0|true|0|false|0.693592_%2C_0.306408|false|false|false|SNV|true|0x05010008000515053f000100|1|false|116|rs6685064] +chr1 1216848 exm2059 G A . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1216848|1216848|SILENT||SNP|G|G|A|g.chr1:1216848G>A|ENST00000379116.5|+|3|361|c.135G>A|c.(133-135)tcG>tcA|p.S45S|0.6633416458852868|AGCTGGGTTCGCCCCACCCCA|SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000325425.8_FIVE_PRIME_FLANK/SCNN1D_ENST00000400928.3_FIVE_PRIME_FLANK/SCNN1D_ENST00000467651.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9928_%2C_0.007188|false|false|1||false|false|false|SCNN1D:6339|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|34385715|1216848|true|false|0|true|0|true|0.9932_%2C_0.00679992|false|false|false|SNV|true|0x050100000305040536000100|1|false|126|rs34385715] chr1 1219382 exm2062 C G . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219382|1219382|MISSENSE||SNP|C|C|G|g.chr1:1219382C>G|ENST00000379116.5|+|5|602|c.376C>G|c.(376-378)Cag>Gag|p.Q126E|0.6758104738154613|CATCCTGCTTCAGAGCTGCCA|SCNN1D_ENST00000325425.8_MISSENSE_p.Q28E/SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000400928.3_FIVE_PRIME_UTR/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9798_%2C_0.01518_%2C_0.004992|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|114582555|1219382|false|false|0|true|0|false|0.975338_%2C_0.0246617_%2C_.|false|false|false|SNV|true|0x050100000e05140436000100|1|false|132|rs114582555] chr1 1219401 exm2063 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1219401|1219401|MISSENSE||SNP|C|C|T|g.chr1:1219401C>T|ENST00000379116.5|+|5|621|c.395C>T|c.(394-396)cCg>cTg|p.P132L|0.6733167082294265|CAGCTGCCCCCGCAATGGCTG|SCNN1D_ENST00000325425.8_MISSENSE_p.P34L/SCNN1D_ENST00000338555.2_FIVE_PRIME_UTR/SCNN1D_ENST00000400928.3_FIVE_PRIME_UTR/SCNN1D_ENST00000467651.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9988_%2C_0.001198|false|false|1||false|false|false|SCNN1D:6339|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201680784|1219401|false|false|0|false|0|false|0.999176_%2C_0.000824346|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201680784] chr1 1222519 exm2129 C T . PASS FUNCOTATION=[SCNN1D|hg19|chr1|1222519|1222519|NONSENSE||SNP|C|C|T|g.chr1:1222519C>T|ENST00000379116.5|+|9|1376|c.1150C>T|c.(1150-1152)Cga>Tga|p.R384*|0.6807980049875312|CTGCTTTTACCGAGGCTACAC|SCNN1D_ENST00000338555.2_NONSENSE_p.R220*/SCNN1D_ENST00000325425.8_NONSENSE_p.R286*/SCNN1D_ENST00000400928.3_NONSENSE_p.R220*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.999_%2C_0.0009984|false|false|1||false|false|false|SCNN1D:6339|false|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|148588796|1222519|false|true|0|true|0|false|0.998661_%2C_0.00133938|false|false|false|SNV|true|0x050300000605040436000100|1|false|134|rs148588796] chr1 1227897 rs3737721 A G . PASS FUNCOTATION=[ACAP3|hg19|chr1|1227897|1227897|THREE_PRIME_UTR||SNP|A|A|G|g.chr1:1227897A>G|ENST00000354700.5|-|24|||||0.655860349127182|CTTCAGGGTCACAGGCAGCAG|ACAP3_ENST00000353662.3_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.772_%2C_0.228|false|false|1||false|true|false|SCNN1D:6339_%7C_ACAP3:116983|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3737721|1227897|true|false|0|true|0|false|0.918916_%2C_0.0810839|false|true|false|SNV|true|0x05010088000515053f000100|1|false|107|rs3737721] chr1 1249193 indel.166 C CGCAA . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1249193|1249194|FRAME_SHIFT_INS||INS|-|-|GCAA|g.chr1:1249193_1249194insGCAA|ENST00000435064.1|-|9|959|c.875_876insTTGC|c.(874-876)aagfs|p.K292fs|0.6325|CACGAAAGTCTTGCGGATCT|CPSF3L_ENST00000421495.2_FRAME_SHIFT_INS_p.K34fs/CPSF3L_ENST00000450926.2_FRAME_SHIFT_INS_p.K270fs/CPSF3L_ENST00000411962.1_FRAME_SHIFT_INS_p.K194fs/CPSF3L_ENST00000419704.1_FRAME_SHIFT_INS_p.K191fs/CPSF3L_ENST00000540437.1_FRAME_SHIFT_INS_p.K298fs/CPSF3L_ENST00000545578.1_FRAME_SHIFT_INS_p.K263fs/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIR6727:102465435_%7C_CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|true|752230074|1249193|false|false|0|false|0|false||false|false|false|DIV|false|0x050000021205000402000200|1|false|144|rs752230074] chr1 1250794 variant.168 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1250794|1250794|NONSENSE||SNP|G|G|A|g.chr1:1250794G>A|ENST00000435064.1|-|6|636|c.553C>T|c.(553-555)Cga>Tga|p.R185*|0.6084788029925187|CCTAAGTGTCGGTCTGGGGTC|CPSF3L_ENST00000450926.2_NONSENSE_p.R163*/CPSF3L_ENST00000411962.1_NONSENSE_p.R87*/CPSF3L_ENST00000419704.1_NONSENSE_p.R84*/CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000540437.1_NONSENSE_p.R191*/CPSF3L_ENST00000545578.1_NONSENSE_p.R156*/CPSF3L_ENST00000462432.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|373723769|1250794|false|true|0|false|0|false||false|false|false|SNV|true|0x050200000e05040402000100|1|false|138|rs373723769] -chr1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309] -chr1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230] -chr1 1366830 rs873927 A G . PASS FUNCOTATION=[RP4-758J18.10|hg19|chr1|1366830|1366830|LINCRNA||SNP|A|A|G|g.chr1:1366830A>G|ENST00000417917.1|-|||c.e2+496T>C|||0.6633416458852868|CCACTTCAGGACCCTGGGTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927] -chr1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261] -chr1 1551927 exm3962 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1551927|1551927|MISSENSE||SNP|T|T|C|g.chr1:1551927T>C|ENST00000505820.2|+|2|231|c.214T>C|c.(214-216)Ttc>Ctc|p.F72L|0.6708229426433915|GTCCCAAAGTTTCCAGGCATC|MIB2_ENST00000520777.1_MISSENSE_p.F72L/MIB2_ENST00000355826.5_MISSENSE_p.F72L/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.F72L/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.F15L/MIB2_ENST00000360522.4_MISSENSE_p.F15L/MIB2_ENST00000378710.3_MISSENSE_p.F15L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.523_%2C_0.477|false|false|1||false|true|true|MIB2:142678|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7418389|1551927|true|false|0|true|0|false|0.374373_%2C_0.625627|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|116|rs7418389] -chr1 1551952 exm3966 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1551952|1551952|MISSENSE||SNP|G|G|A|g.chr1:1551952G>A|ENST00000505820.2|+|2|256|c.239G>A|c.(238-240)aGg>aAg|p.R80K|0.6633416458852868|CTGCAGCCCAGGAGCCTCAAG|MIB2_ENST00000520777.1_MISSENSE_p.R80K/MIB2_ENST00000355826.5_MISSENSE_p.R80K/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.R80K/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.R23K/MIB2_ENST00000360522.4_MISSENSE_p.R23K/MIB2_ENST00000378710.3_MISSENSE_p.R23K|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199576573|1551952|false|false|0|false|0|false|0.997527_%2C_0.0024727|false|false|true|SNV|true|0x050000400a05040426000100|1|false|137|rs199576573] +chr1 1254678 exm2656 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1254678|1254678|NONSENSE||SNP|G|G|A|g.chr1:1254678G>A|ENST00000435064.1|-|4|510|c.427C>T|c.(427-429)Cag>Tag|p.Q143*|0.628428927680798|AACCTGACCTGGACCGTCTGG|CPSF3L_ENST00000450926.2_NONSENSE_p.Q143*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000419704.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.Q149*/CPSF3L_ENST00000545578.1_NONSENSE_p.Q114*/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPSF3L:54973|false|true|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|200207309|1254678|false|true|0|false|0|false||false|false|false|SNV|false|0x0502000a0605000402000100|1|false|137|rs200207309] +chr1 1256453 exm2676 G A . PASS FUNCOTATION=[CPSF3L|hg19|chr1|1256453|1256453|NONSENSE||SNP|G|G|A|g.chr1:1256453G>A|ENST00000435064.1|-|2|132|c.49C>T|c.(49-51)Cga>Tga|p.R17*|0.6458852867830424|ATGCAGCTTCGGCCCACGTCC|CPSF3L_ENST00000450926.2_NONSENSE_p.R17*/CPSF3L_ENST00000419704.1_NONSENSE_p.R17*/CPSF3L_ENST00000421495.2_INTRON/CPSF3L_ENST00000411962.1_INTRON/CPSF3L_ENST00000540437.1_NONSENSE_p.R23*/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/CPSF3L_ENST00000462432.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|CPSF3L:54973|false|true|true|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|200498230|1256453|false|true|0|false|0|false|0.999897_%2C_0.000103029|false|false|true|SNV|true|0x050200480605040436000100|1|false|137|rs200498230] +chr1 1366830 rs873927 A G . PASS FUNCOTATION=[VWA1|hg19|chr1|1366830|1366830|FIVE_PRIME_FLANK||SNP|A|A|G|g.chr1:1366830A>G|ENST00000338660.5|+||||||0.6633416458852868|CCACTTCAGGACCCTGGGTCC|VWA1_ENST00000404702.3_FIVE_PRIME_FLANK/VWA1_ENST00000476993.1_FIVE_PRIME_FLANK/RP4-758J18.10_ENST00000417917.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3157_%2C_0.6843|false|false|1||false|true|false|LOC102724312:102724312|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|873927|1366830|true|false|0|true|0|false|0.497733_%2C_0.502267|false|false|false|SNV|true|0x050100080005150537000100|1|false|92|rs873927] +chr1 1550992 exm3957 C A . PASS FUNCOTATION=[MIB2|hg19|chr1|1550992|1550992|NONSENSE||SNP|C|C|A|g.chr1:1550992C>A|ENST00000505820.2|+|1|170|c.153C>A|c.(151-153)tgC>tgA|p.C51*|0.7630922693266833|TGGCGCGATGCGGGCCGTCCT|MIB2_ENST00000520777.1_NONSENSE_p.C51*/MIB2_ENST00000355826.5_NONSENSE_p.C51*/MIB2_ENST00000518681.1_NONSENSE_p.C51*/MIB2_ENST00000357210.4_FIVE_PRIME_UTR/MIB2_ENST00000360522.4_FIVE_PRIME_UTR/MIB2_ENST00000378710.3_FIVE_PRIME_UTR/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/MIB2_ENST00000378712.1_FIVE_PRIME_FLANK/MIB2_ENST00000504599.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MIB2:142678|false|true|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|true|true|199741261|1550992|false|false|0|true|0|false|0.998798_%2C_0.00120201|false|false|false|SNV|true|0x050100020605040402000100|1|false|137|rs199741261] +chr1 1551927 exm3962 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1551927|1551927|MISSENSE||SNP|T|T|C|g.chr1:1551927T>C|ENST00000505820.2|+|2|231|c.214T>C|c.(214-216)Ttc>Ctc|p.F72L|0.6708229426433915|GTCCCAAAGTTTCCAGGCATC|MIB2_ENST00000520777.1_MISSENSE_p.F72L/MIB2_ENST00000355826.5_MISSENSE_p.F72L/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.F72L/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.F15L/MIB2_ENST00000360522.4_MISSENSE_p.F15L/MIB2_ENST00000378710.3_MISSENSE_p.F15L/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.523_%2C_0.477|false|false|1||false|true|true|MIB2:142678|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7418389|1551927|true|false|0|true|0|false|0.374373_%2C_0.625627|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|116|rs7418389] +chr1 1551952 exm3966 G A . PASS FUNCOTATION=[MIB2|hg19|chr1|1551952|1551952|MISSENSE||SNP|G|G|A|g.chr1:1551952G>A|ENST00000505820.2|+|2|256|c.239G>A|c.(238-240)aGg>aAg|p.R80K|0.6633416458852868|CTGCAGCCCAGGAGCCTCAAG|MIB2_ENST00000520777.1_MISSENSE_p.R80K/MIB2_ENST00000355826.5_MISSENSE_p.R80K/MIB2_ENST00000504599.1_FIVE_PRIME_UTR/MIB2_ENST00000518681.1_MISSENSE_p.R80K/MIB2_ENST00000378712.1_FIVE_PRIME_UTR/MIB2_ENST00000357210.4_MISSENSE_p.R23K/MIB2_ENST00000360522.4_MISSENSE_p.R23K/MIB2_ENST00000378710.3_MISSENSE_p.R23K/MIB2_ENST00000378708.1_FIVE_PRIME_FLANK/RP11-345P4.9_ENST00000607222.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9982_%2C_0.001797|false|false|1||false|false|false|MIB2:142678|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199576573|1551952|false|false|0|false|0|false|0.997527_%2C_0.0024727|false|false|true|SNV|true|0x050000400a05040426000100|1|false|137|rs199576573] chr1 1558792 exm3973 T C . PASS FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088] chr1 1647785 indel.249 CT C . PASS FUNCOTATION=[CDK11A|hg19|chr1|1647786|1647786|SPLICE_SITE|FRAME_SHIFT_DEL|DEL|T|T|-|g.chr1:1647786delT|ENST00000358779.5|-|5|538|c.457delA|c.(457-459)aggfs|p.R153fs|0.48129675810473815|CCCACTCACCTTTCTCTCCTG|CDK11A_ENST00000356200.3_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378633.1_SPLICE_SITE_p.R153fs/CDK11A_ENST00000404249.3_SPLICE_SITE_p.R163fs/CDK11A_ENST00000357760.2_SPLICE_SITE_p.R153fs/CDK11A_ENST00000378638.2_SPLICE_SITE_p.R129fs/CDK11A_ENST00000378635.3_SPLICE_SITE_p.S153fs/RP1-283E3.8_ENST00000598846.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CDK11A:728642|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|748188287|1647786|false|false|0|false|0|false||false|false|true|DIV|false|0x050000401205000402000200|1|false|144|rs748188287] -chr1 2146966 rs7512482 T C . PASS FUNCOTATION=[RP11-181G12.4|hg19|chr1|2146966|2146966|LINCRNA||SNP|T|T|C|g.chr1:2146966T>C|ENST00000442483.2|+|||c.e1+2883T>C|||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482] -chr1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330] +chr1 2146966 rs7512482 T C . PASS FUNCOTATION=[C1orf86|hg19|chr1|2146966|2146966|FIVE_PRIME_FLANK||SNP|T|T|C|g.chr1:2146966T>C|ENST00000487186.1|-||||||0.6758104738154613|AGGACCTGCGTGAAGGAGCCC|AL590822.1_ENST00000545087.1_FIVE_PRIME_FLANK/RP11-181G12.4_ENST00000442483.2_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7963_%2C_0.2037|false|false|1||false|true|true||true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7512482|2146966|false|false|0|true|0|false|0.761969_%2C_0.238031|false|false|false|SNV|true|0x05010000000517053f000100|1|false|116|rs7512482] +chr1 2327075 rs3736330 C T . PASS FUNCOTATION=[RER1|hg19|chr1|2327075|2327075|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:2327075C>T|ENST00000488353.1|+|1|||||0.5211970074812967|TACTTTTTCCCGAACAATTCA|RER1_ENST00000605895.1_INTRON/RER1_ENST00000378512.1_INTRON/RER1_ENST00000378518.1_INTRON/RER1_ENST00000378513.3_INTRON/MORN1_ENST00000378529.3_FIVE_PRIME_FLANK/MORN1_ENST00000378531.3_FIVE_PRIME_FLANK/MORN1_ENST00000606372.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7638_%2C_0.2362|false|false|1||false|true|false|RER1:11079|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3736330|2327075|false|false|0|true|0|false|0.789718_%2C_0.210282|false|false|false|SNV|true|0x050100080005150537000100|1|false|107|rs3736330] chr1 2408058 exm5658 C T . PASS FUNCOTATION=[PLCH2|hg19|chr1|2408058|2408058|MISSENSE||SNP|C|C|T|g.chr1:2408058C>T|ENST00000419816.2|+|1|305|c.31C>T|c.(31-33)Cgg>Tgg|p.R11W|0.6907730673316709|CCCCGACAGCCGGACCAAGGG|PLCH2_ENST00000449969.1_INTRON/PLCH2_ENST00000378486.3_MISSENSE_p.R11W/PLCH2_ENST00000378488.3_MISSENSE_p.R11W/PLCH2_ENST00000288766.5_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PLCH2:9651|false|true|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|199848920|2408058|false|false|0|false|0|false||false|false|true|SNV|true|0x050000480a05040402000100|1|false|137|rs199848920] chr1 2450733 indel.338 AG A . PASS FUNCOTATION=[PANK4|hg19|chr1|2450734|2450734|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:2450734delG|ENST00000378466.3|-|7|897|c.883delC|c.(883-885)ctgfs|p.L295fs|0.6059850374064838|ATGTGCAGCAGGCTCTTCGCC|PANK4_ENST00000435556.3_FRAME_SHIFT_DEL_p.L256fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PANK4:55229|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|764053138|2450734|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs764053138] -chr1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|RP13-436F16.1_ENST00000427302.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515] -chr1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577] +chr1 2564465 kgp10938344 T C . PASS FUNCOTATION=[MMEL1|hg19|chr1|2564465|2564465|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:2564465T>C|ENST00000288709.6|-|1|||||0.6458852867830424|TGAAGGCTTCTGGGCCTCCTT|MMEL1_ENST00000378412.3_FIVE_PRIME_FLANK/MMEL1_ENST00000502556.1_FIVE_PRIME_FLANK/MMEL1_ENST00000511099.1_FIVE_PRIME_FLANK/RP13-436F16.1_ENST00000427302.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4824_%2C_0.5176|false|false|1||false|true|true|MMEL1:79258|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12752515|2564465|false|false|0|true|0|false|0.403943_%2C_0.596057|false|false|true|SNV|true|0x050100400a0517053e000100|1|false|121|rs12752515] +chr1 3542385 indel.400 GA G . PASS FUNCOTATION=[TPRG1L|hg19|chr1|3542386|3542386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:3542386delA|ENST00000378344.2|+|3|473|c.403delA|c.(403-405)atafs|p.I135fs|0.5486284289276808|GGTGGTGCGGATAGCGCTCAA|TPRG1L_ENST00000344579.5_INTRON/RP11-46F15.2_ENST00000435049.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TPRG1L:127262|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|749859577|3542386|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|144|rs749859577] chr1 3789041 indel.451 CT C . PASS FUNCOTATION=[DFFB|hg19|chr1|3789042|3789042|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:3789042delT|ENST00000378209.3|+|6|1010|c.688delT|c.(688-690)tttfs|p.F230fs|0.5885286783042394|CCAGGGTCCCTTTGACATGGA|DFFB_ENST00000338895.3_FRAME_SHIFT_DEL_p.F230fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|755710345|3789042|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs755710345] chr1 3800158 indel.452 TG T . PASS FUNCOTATION=[DFFB|hg19|chr1|3800159|3800159|FRAME_SHIFT_DEL||DEL|G|G|-|g.chr1:3800159delG|ENST00000378209.3|+|7|1193|c.871delG|c.(871-873)ggcfs|p.G291fs|0.46384039900249374|GTATTTTTATGGCCTGCTTTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DFFB:1677|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|777060714|3800159|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs777060714] -chr1 3821782 rs11589102 G A . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3821782|3821782|LINCRNA||SNP|G|G|A|g.chr1:3821782G>A|ENST00000442673.1|+|||c.e1+4587G>A|||0.4688279301745636|CTAAACTAATGTTTTCTTAAT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102] +chr1 3821782 rs11589102 G A . PASS FUNCOTATION=[C1orf174|hg19|chr1|3821782|3821782|FIVE_PRIME_FLANK||SNP|G|G|A|g.chr1:3821782G>A|ENST00000361605.3|-||||||0.4688279301745636|CTAAACTAATGTTTTCTTAAT|C1orf174_ENST00000486765.1_FIVE_PRIME_FLANK/RP13-15E13.1_ENST00000442673.1_LINCRNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8093_%2C_0.1907|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11589102|3821782|false|false|0|true|0|false|0.748643_%2C_0.251357|false|false|false|SNV|true|0x05010008000517053f000101|1|false|120|rs11589102] chr1 3822703 rs10909830 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3822703|3822703|LINCRNA||SNP|C|C|T|g.chr1:3822703C>T|ENST00000442673.1|+|||c.e1+5508C>T|||0.5012468827930174|TTTTCACCGACGCAGGCCCGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7055_%2C_0.2945|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|10909830|3822703|false|false|0|true|0|false|0.663061_%2C_0.336939|false|false|false|SNV|true|0x05010008000517053f000100|1|false|120|rs10909830] chr1 3823395 kgp9113347 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3823395|3823395|LINCRNA||SNP|C|C|T|g.chr1:3823395C>T|ENST00000442673.1|+|||c.e1+6200C>T|||0.5411471321695761|TGCAGATCCACGTCTGCCTCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8087_%2C_0.1913|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28973022|3823395|false|false|0|true|0|false|0.748918_%2C_0.251082|false|false|false|SNV|true|0x05010008000517053f000100|1|false|125|rs28973022] chr1 3825525 rs35383955 C T . PASS FUNCOTATION=[RP13-15E13.1|hg19|chr1|3825525|3825525|LINCRNA||SNP|C|C|T|g.chr1:3825525C>T|ENST00000442673.1|+|||c.e2-5434C>T|||0.600997506234414|GTGCCCCAAGCGGAGCTCTTG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7456_%2C_0.2544|false|false|1||false|true|true|LINC01134:100133612|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|35383955|3825525|false|false|0|true|0|false||false|false|false|SNV|true|0x05010008000517053e000100|1|false|126|rs35383955] chr1 4002498 psy_rs7538691 T C . PASS FUNCOTATION=[RP13-614K11.1|hg19|chr1|4002498|4002498|LINCRNA||SNP|T|T|C|g.chr1:4002498T>C|ENST00000412674.1|+|||c.e2+1295T>C|||0.456359102244389|ATCCACATGCTGAAGTCCTTA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4375_%2C_0.5625|false|false|1||false|true|true|LINC01346:728716|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|7538691|4002498|false|false|0|true|0|false|0.405969_%2C_0.594031|false|false|false|SNV|true|0x05010008000517053f000100|1|false|116|rs7538691] -chr1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429] -chr1 6556585 exm9669 G A . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6556585|6556585|MISSENSE||SNP|G|G|A|g.chr1:6556585G>A|ENST00000377748.1|-|2|610|c.112C>T|c.(112-114)Ccc>Tcc|p.P38S|0.6408977556109726|ATGCAGGCGGGGTTCTGACAG|PLEKHG5_ENST00000400915.3_MISSENSE_p.P17S/PLEKHG5_ENST00000377740.3_MISSENSE_p.P38S/PLEKHG5_ENST00000377732.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000544978.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000537245.1_MISSENSE_p.P40S/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201669114|6556585|false|false|0|false|0|false|0.997974_%2C_0.00202624|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201669114] -chr1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312] +chr1 6550505 exm2233725 C T . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6550505|6550505|FIVE_PRIME_UTR||SNP|C|C|T|g.chr1:6550505C>T|ENST00000340850.5|-|1|||||0.6633416458852868|CGCGACTCACCTAGGAACAGG|PLEKHG5_ENST00000377725.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000377748.1_INTRON/PLEKHG5_ENST00000377732.1_INTRON/PLEKHG5_ENST00000400915.3_INTRON/PLEKHG5_ENST00000377728.3_INTRON/PLEKHG5_ENST00000377740.3_INTRON/PLEKHG5_ENST00000544978.1_INTRON/PLEKHG5_ENST00000537245.1_INTRON/PLEKHG5_ENST00000377737.2_INTRON/PLEKHG5_ENST00000400913.1_FIVE_PRIME_FLANK/PLEKHG5_ENST00000535355.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8051_%2C_0.1949|false|false|1||false|true|true|PLEKHG5:57449|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11806429|6550505|false|false|0|true|0|false|0.824748_%2C_0.175252|false|false|true|SNV|true|0x05010048000517053f000100|1|false|120|rs11806429] +chr1 6556585 exm9669 G A . PASS FUNCOTATION=[PLEKHG5|hg19|chr1|6556585|6556585|MISSENSE||SNP|G|G|A|g.chr1:6556585G>A|ENST00000377748.1|-|2|610|c.112C>T|c.(112-114)Ccc>Tcc|p.P38S|0.6408977556109726|ATGCAGGCGGGGTTCTGACAG|PLEKHG5_ENST00000400915.3_MISSENSE_p.P17S/PLEKHG5_ENST00000377740.3_MISSENSE_p.P38S/PLEKHG5_ENST00000377732.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000544978.1_FIVE_PRIME_UTR/PLEKHG5_ENST00000537245.1_MISSENSE_p.P40S/PLEKHG5_ENST00000377737.2_FIVE_PRIME_UTR/PLEKHG5_ENST00000377728.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9994_%2C_0.000599|false|false|0||false|false|false|PLEKHG5:57449|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201669114|6556585|false|false|0|false|0|false|0.997974_%2C_0.00202624|false|false|false|SNV|true|0x050000000a05040436000100|1|false|137|rs201669114] +chr1 6635345 indel.549 TC T . PASS FUNCOTATION=[TAS1R1|hg19|chr1|6635346|6635346|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:6635346delC|ENST00000333172.6|+|3|1346|c.1154delC|c.(1153-1155)tctfs|p.S385fs|0.600997506234414|TCCATGAGTTCTGCCTACAAC|TAS1R1_ENST00000351136.3_INTRON/TAS1R1_ENST00000328191.4_FRAME_SHIFT_DEL_p.S385fs/ZBTB48_ENST00000377674.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TAS1R1:80835|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867182312|6635346|false|false|0|false|0|false||false|false|false|DIV|false|0x050000081205000402000200|1|false|147|rs867182312] chr1 7897138 indel.606 CA C . PASS FUNCOTATION=[PER3|hg19|chr1|7897139|7897139|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:7897139delA|ENST00000377532.3|+|20|3702|c.3479delA|c.(3478-3480)caafs|p.K1161fs|0.3940149625935162|TCTCATGGGCAAAAGGAGGAG|PER3_ENST00000361923.2_FRAME_SHIFT_DEL_p.K1152fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PER3:8863|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|773961726|7897139|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs773961726] -chr1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648] +chr1 7913430 rs228648 G A . PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648] chr1 8045014 indel.625 GGCC G . PASS FUNCOTATION=[PARK7|hg19|chr1|8045015|8045017|IN_FRAME_DEL||DEL|GCC|GCC|-|g.chr1:8045015_8045017delGCC|ENST00000493678.1|+|7|537_539|c.471_473delGCC|c.(469-474)gggcct>ggt|p.P158del|0.4466501240694789|CAAGCCGGGGGCCTGGGACCAGC|PARK7_ENST00000377491.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000338639.5_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377488.1_IN_FRAME_DEL_p.P158del/PARK7_ENST00000377493.5_IN_FRAME_DEL_p.P138del|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PARK7:11315|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764877312|8045015|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs764877312] chr1 9994822 indel.687 CT C . PASS FUNCOTATION=[LZIC|hg19|chr1|9994823|9994823|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:9994823delT|ENST00000377223.1|-|5|582|c.333delA|c.(331-333)gcafs|p.E112fs|0.3516209476309227|ATTTTACCTCTGCTAACCTTG|LZIC_ENST00000377213.1_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000400903.2_FRAME_SHIFT_DEL_p.E112fs/LZIC_ENST00000541052.1_FRAME_SHIFT_DEL_p.E133fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LZIC:84328|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|866608629|9994823|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs866608629] chr1 10478954 indel.710 TC T . PASS FUNCOTATION=[PGD|hg19|chr1|10478955|10478955|FRAME_SHIFT_DEL||DEL|C|C|-|g.chr1:10478955delC|ENST00000270776.8|+|11|1219|c.1182delC|c.(1180-1182)ttcfs|p.F395fs|0.46384039900249374|TGGACGACTTCTTTAAGTCAG|PGD_ENST00000538557.1_FRAME_SHIFT_DEL_p.F382fs/PGD_ENST00000541529.1_FRAME_SHIFT_DEL_p.F373fs/PGD_ENST00000498356.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PGD:5226|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|767877628|10478955|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs767877628] @@ -197,9 +197,9 @@ chr1 12776344 exm16961 A T . PASS FUNCOTATION=[AADACL3|hg19|chr1|12776344|127763 chr1 13933727 exm18587 A G . PASS FUNCOTATION=[PDPN|hg19|chr1|13933727|13933727|MISSENSE||SNP|A|A|G|g.chr1:13933727A>G|ENST00000509009.1|+|2|156|c.112A>G|c.(112-114)Atg>Gtg|p.M38V|0.42144638403990026|CGGCGTTGCCATGCCAGGTGC|PDPN_ENST00000294489.6_MISSENSE_p.M119V/PDPN_ENST00000376057.4_MISSENSE_p.M119V/PDPN_ENST00000376061.4_START_CODON_SNP_p.M1V/PDPN_ENST00000513143.1_START_CODON_SNP_p.M1V/PDPN_ENST00000475043.1_START_CODON_SNP_p.M1V/PDPN_ENST00000487038.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9954_%2C_0.004593|false|false|1||false|false|false|PDPN:10630|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141726617|13933727|false|false|0|false|0|false|0.990487_%2C_0.00951302|false|false|false|SNV|true|0x050000000a05040436000100|1|false|134|rs141726617] chr1 15671649 exm19151 T C . PASS FUNCOTATION=[FHAD1|hg19|chr1|15671649|15671649|MISSENSE||SNP|T|T|C|g.chr1:15671649T>C|ENST00000375998.4|+|15|2135|c.2135T>C|c.(2134-2136)aTg>aCg|p.M712T|0.571072319201995|CGGAAGAGAATGCAAGAACTG|FHAD1_ENST00000358897.4_MISSENSE_p.M712T/FHAD1_ENST00000417793.1_MISSENSE_p.M712T/FHAD1_ENST00000375999.3_MISSENSE_p.M712T/FHAD1_ENST00000314740.8_START_CODON_SNP_p.M1T/FHAD1_ENST00000471347.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FHAD1:114827_%7C_LOC101927417:101927417|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200826682|15671649|false|false|0|false|0|false|0.999554_%2C_0.000446459|false|false|false|SNV|true|0x050000020a05040402000100|1|false|137|rs200826682] chr1 17634718 exm23564 A G . PASS FUNCOTATION=[PADI4|hg19|chr1|17634718|17634718|START_CODON_SNP||SNP|A|A|G|g.chr1:17634718A>G|ENST00000375448.4|+|1|27|c.1A>G|c.(1-3)Atg>Gtg|p.M1V|0.6134663341645885|TAGCCCGACGATGGCCCAGGG|PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|PADI4:23569|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|141280036|17634718|false|true|0|false|0|false|0.999176_%2C_0.000824232|false|false|false|SNV|true|0x050200000a05040426000100|1|false|134|rs141280036] -chr1 17942591 exm23940 G A . PASS FUNCOTATION=[ARHGEF10L|hg19|chr1|17942591|17942591|MISSENSE||SNP|G|G|A|g.chr1:17942591G>A|ENST00000375415.1|+|7|655|c.612G>A|c.(610-612)atG>atA|p.M204I|0.6359102244389028|TTGCTCAGATGACCCAGCTCA|ARHGEF10L_ENST00000361221.3_MISSENSE_p.M243I/ARHGEF10L_ENST00000452522.1_MISSENSE_p.M204I/ARHGEF10L_ENST00000434513.1_MISSENSE_p.M243I/ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I/ARHGEF10L_ENST00000469726.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ARHGEF10L:55160|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201155898|17942591|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201155898] +chr1 17942591 exm23940 G A . PASS FUNCOTATION=[ARHGEF10L|hg19|chr1|17942591|17942591|MISSENSE||SNP|G|G|A|g.chr1:17942591G>A|ENST00000375415.1|+|7|655|c.612G>A|c.(610-612)atG>atA|p.M204I|0.6359102244389028|TTGCTCAGATGACCCAGCTCA|ARHGEF10L_ENST00000361221.3_MISSENSE_p.M243I/ARHGEF10L_ENST00000452522.1_MISSENSE_p.M204I/ARHGEF10L_ENST00000434513.1_MISSENSE_p.M243I/ARHGEF10L_ENST00000375420.3_START_CODON_SNP_p.M1I/ARHGEF10L_ENST00000167825.4_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000375408.3_FIVE_PRIME_FLANK/ARHGEF10L_ENST00000469726.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ARHGEF10L:55160|false|true|false|false|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|201155898|17942591|false|false|0|false|0|false|0.999863_%2C_0.000137372|false|false|false|SNV|true|0x050000000a05040426000100|1|false|137|rs201155898] chr1 21800057 indel.1508 G GC . PASS FUNCOTATION=[NBPF3|hg19|chr1|21800057|21800058|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:21800057_21800058insC|ENST00000318220.6|+|10|1799|c.751_752insC|c.(751-753)gatfs|p.D251fs|0.4525|GAATGGTTGGATGCTGTATG|NBPF3_ENST00000342104.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000318249.5_FRAME_SHIFT_INS_p.D307fs/NBPF3_ENST00000454000.2_FRAME_SHIFT_INS_p.D237fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|NBPF3:84224|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|747645859|21800057|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040402000200|1|false|144|rs747645859] -chr1 21896823 exm28148 C T . PASS FUNCOTATION=[ALPL|hg19|chr1|21896823|21896823|MISSENSE||SNP|C|C|T|g.chr1:21896823C>T|ENST00000374840.3|+|8|1068|c.818C>T|c.(817-819)aCg>aTg|p.T273M|0.5810473815461347|TGGAACCGCACGGAACTCCTG|ALPL_ENST00000374832.1_MISSENSE_p.T273M/ALPL_ENST00000374830.1_DE_NOVO_START_IN_FRAME/ALPL_ENST00000425315.2_MISSENSE_p.T273M/ALPL_ENST00000540617.1_MISSENSE_p.T218M/ALPL_ENST00000539907.1_MISSENSE_p.T196M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148405563|21896823|false|true|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs148405563] +chr1 21896823 exm28148 C T . PASS FUNCOTATION=[ALPL|hg19|chr1|21896823|21896823|MISSENSE||SNP|C|C|T|g.chr1:21896823C>T|ENST00000374840.3|+|8|1068|c.818C>T|c.(817-819)aCg>aTg|p.T273M|0.5810473815461347|TGGAACCGCACGGAACTCCTG|ALPL_ENST00000374832.1_MISSENSE_p.T273M/ALPL_ENST00000374830.1_DE_NOVO_START_IN_FRAME/ALPL_ENST00000425315.2_MISSENSE_p.T273M/ALPL_ENST00000540617.1_MISSENSE_p.T218M/ALPL_ENST00000539907.1_MISSENSE_p.T196M/ALPL_ENST00000374829.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ALPL:249|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|148405563|21896823|false|true|0|false|0|false|0.999244_%2C_0.000755546|false|false|false|SNV|true|0x050200000a05040402000100|1|false|134|rs148405563] chr1 23435538 rs16827981 G A . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435538|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:23435538G>A|ENST00000302291.4|-|3|||||0.4339152119700748|CAAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8674_%2C_0.1326|false|false|1||false|true|false|LUZP1:7798|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|16827981|23435538|false|false|0|true|0|false|0.807164_%2C_0.192836|false|false|true|SNV|true|0x050100400005150537000100|1|false|123|rs16827981] chr1 23435538 rs16827981 G AT . PASS FUNCOTATION=[LUZP1|hg19|chr1|23435538|23435539|DE_NOVO_START_OUT_FRAME||INS|-|-|T|g.chr1:23435538_23435539insAT|ENST00000302291.4|-|3|||||0.4325|AAGCTTTCCGTCAATACTTC|LUZP1_ENST00000314174.5_INTRON/LUZP1_ENST00000418342.1_DE_NOVO_START_OUT_FRAME/LUZP1_ENST00000374623.3_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 23751126 exm30864 T A . PASS FUNCOTATION=[TCEA3|hg19|chr1|23751126|23751126|START_CODON_SNP||SNP|T|T|A|g.chr1:23751126T>A|ENST00000450454.2|-|1|108|c.1A>T|c.(1-3)Atg>Ttg|p.M1L|0.7506234413965087|TCCTGGCCCATGTTGGCCCGC|TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TCEA3:6920|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|200503010|23751126|false|true|0|false|0|false|0.999794_%2C_0.000171715_%2C_3.4343e-005|false|false|false|SNV|true|0x050200000a05040402000100|1|false|137|rs200503010] @@ -209,8 +209,8 @@ chr1 24687425 indel.1723 T TA . PASS FUNCOTATION=[STPG1|hg19|chr1|24687425|24687 chr1 31791962 exm39079 A G . PASS FUNCOTATION=[ZCCHC17|hg19|chr1|31791962|31791962|MISSENSE||SNP|A|A|G|g.chr1:31791962A>G|ENST00000373714.1|+|3|334|c.73A>G|c.(73-75)Atg>Gtg|p.M25V|0.3690773067331671|ATAGGTTGCTATGGTGACAGA|ZCCHC17_ENST00000344147.5_MISSENSE_p.M25V/ZCCHC17_ENST00000546109.1_MISSENSE_p.M17V/ZCCHC17_ENST00000422613.2_START_CODON_SNP_p.M1V/ZCCHC17_ENST00000479629.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|1||false|false|false|ZCCHC17:51538|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149257512|31791962|false|true|0|false|0|false|0.998729_%2C_0.00127069|false|false|true|SNV|true|0x050200400a05040436000100|1|false|134|rs149257512] chr1 32620194 exm40264 A G . PASS FUNCOTATION=[KPNA6|hg19|chr1|32620194|32620194|MISSENSE||SNP|A|A|G|g.chr1:32620194A>G|ENST00000373625.3|+|2|103|c.10A>G|c.(10-12)Atg>Gtg|p.M4V|0.4688279301745636|TCTAGAGACCATGGCGAGCCC|KPNA6_ENST00000537234.1_START_CODON_SNP_p.M1V/KPNA6_ENST00000545542.1_MISSENSE_p.M9V/KPNA6_ENST00000469790.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|KPNA6:23633|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|147022148|32620194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs147022148] chr1 36558985 exm44727 T G . PASS FUNCOTATION=[ADPRHL2|hg19|chr1|36558985|36558985|NONSTOP||SNP|T|T|G|g.chr1:36558985T>G|ENST00000373178.4|+|6|1120|c.1090T>G|c.(1090-1092)Tga>Gga|p.*364G|0.571072319201995|CCAGAAGAGTTGATGAGGGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|ADPRHL2:54936|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|183554661|36558985|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|true|0x050000000205040436000100|1|false|135|rs183554661] -chr1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115] -chr1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783] +chr1 43232984 exm51112 T C . PASS FUNCOTATION=[C1orf50|hg19|chr1|43232984|43232984|START_CODON_SNP||SNP|T|T|C|g.chr1:43232984T>C|ENST00000372525.5|+|1|45|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6957605985037406|GGCGCTGTCATGGAGGACGCC|C1orf50_ENST00000536543.1_THREE_PRIME_UTR/C1orf50_ENST00000468913.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_._%2C_0.0003994|false|false|0||false|false|false|P3H1:64175_%7C_C1orf50:79078|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|200116115|43232984|false|false|0|false|0|false|0.999622_%2C_0.000171715_%2C_0.000206058|false|false|false|SNV|true|0x050000020a05040436000100|1|false|137|rs200116115] +chr1 45974886 exm55303 G C . PASS FUNCOTATION=[MMACHC|hg19|chr1|45974886|45974886|NONSTOP||SNP|G|G|C|g.chr1:45974886G>C|ENST00000401061.4|+|4|1128|c.848G>C|c.(847-849)tGa>tCa|p.*283S|0.5112219451371571|CCTGGCCCTTGATTTTCTCCC|MMACHC_ENST00000477188.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MMACHC:25974|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201025783|45974886|false|false|0|false|0|false|0.999244_%2C_0.000240401_%2C_0.000515145|false|false|false|SNV|true|0x050000000205040416000100|1|false|137|rs201025783] chr1 47013404 exm56794 A G . PASS FUNCOTATION=[KNCN|hg19|chr1|47013404|47013404|NONSTOP||SNP|A|A|G|g.chr1:47013404A>G|ENST00000396314.3|-|3|304|c.304T>C|c.(304-306)Tga>Cga|p.*102R|0.6508728179551122|ACTTTGCCTCAGCATTCCTCA|KNCN_ENST00000481882.2_NONSTOP_p.*125R/MKNK1-AS1_ENST00000602433.1_RNA/KNCN_ENST00000524908.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9964_%2C_0.003594|false|false|1||false|false|false|MKNK1-AS1:100507423_%7C_KNCN:148930|false|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|140455646|47013404|false|false|0|false|0|false|0.993337_%2C_0.00666255|false|false|false|SNV|true|0x050000080205040426000100|1|false|134|rs140455646] chr1 47075329 exm56885 A G . PASS FUNCOTATION=[MOB3C|hg19|chr1|47075329|47075329|NONSTOP||SNP|A|A|G|g.chr1:47075329A>G|ENST00000371940.1|-|3|3793|c.718T>C|c.(718-720)Tga>Cga|p.*240R|0.543640897755611|ACCTGGGCTCAGTGGCAGATC|MOB3C_ENST00000271139.8_NONSTOP_p.*269R/MOB3C_ENST00000319928.3_NONSTOP_p.*217R/MKNK1_ENST00000545730.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MOB3C:148932|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|149444077|47075329|false|false|0|true|0|false|0.999931_%2C_6.8686e-005|false|false|false|SNV|true|0x050100000205040402000100|1|false|134|rs149444077] chr1 55207184 var_1_55207184 T TAG . PASS FUNCOTATION=[TTC4|hg19|chr1|55207184|55207185|FRAME_SHIFT_INS||INS|-|-|AG|g.chr1:55207184_55207185insAG|ENST00000371281.3|+|10|1249|c.1162_1163insAG|c.(1162-1164)tgafs|p.L389fs|0.51|CAGATACGATGACTAAGCCA|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_THREE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|TTC4:7268_%7C_MROH7-TTC4:100527960|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|775455587|55207184|false|false|0|false|0|true||false|false|false|DIV|true|0x050000000305040402000200|1|false|144|rs775455587] @@ -218,25 +218,25 @@ chr1 55307347 exm62368 T G . PASS FUNCOTATION=[C1orf177|hg19|chr1|55307347|55307 chr1 60228254 exm1845312 T C . PASS FUNCOTATION=[FGGY|hg19|chr1|60228254|60228254|NONSTOP||SNP|T|T|C|g.chr1:60228254T>C|ENST00000371218.4|+|17|1910|c.1726T>C|c.(1726-1728)Tga>Cga|p.*576R|0.3765586034912718|GAATGATGACTGAACAGGGCT|FGGY_ENST00000371212.1_NONSTOP_p.*464R/FGGY_ENST00000303721.7_NONSTOP_p.*552R/FGGY_ENST00000371210.1_NONSTOP_p.*253R/RP4-782L23.2_ENST00000443012.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9996_%2C_0.0003994_%2C_.|false|false|0||false|false|false|FGGY:55277|false|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|201875327|60228254|false|false|0|false|0|false|0.999897_%2C_._%2C_0.000103029|false|false|false|SNV|true|0x050000000205040436000100|1|false|137|rs201875327] chr1 67160814 rs1325267 C T . PASS FUNCOTATION=[SGIP1|hg19|chr1|67160814|67160814|INTRON||SNP|C|C|T|g.chr1:67160814C>T|ENST00000237247.6|+|||c.e20-303C>T|||0.4014962593516209|AATATGCTGACGCCCCTGCAT|SGIP1_ENST00000371037.4_INTRON/SGIP1_ENST00000371039.1_INTRON/SGIP1_ENST00000435165.2_DE_NOVO_START_IN_FRAME/SGIP1_ENST00000371036.3_INTRON/SGIP1_ENST00000371035.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7632_%2C_0.2368|false|false|1||false|true|true|SGIP1:84251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|1325267|67160814|false|false|0|true|0|false|0.864585_%2C_0.135415|false|false|false|SNV|true|0x05010008000517053f000100|1|false|88|rs1325267] chr1 67288063 indel.4057 G GCT . PASS FUNCOTATION=[WDR78|hg19|chr1|67288063|67288064|FRAME_SHIFT_INS||INS|-|-|CT|g.chr1:67288063_67288064insCT|ENST00000371026.3|-|16|2533|c.2476_2477insAG|c.(2476-2478)actfs|p.T826fs|0.3275|TCCAAAACAGTAGGCATATT|WDR78_ENST00000431318.1_FRAME_SHIFT_INS_p.T539fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|WDR78:79819|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|754415129|67288063|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|144|rs754415129] -chr1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823] +chr1 67773351 rs12142823 C T . PASS FUNCOTATION=[IL12RB2|hg19|chr1|67773351|67773351|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:67773351C>T|ENST00000262345.1|+|1|||||0.6633416458852868|GTGGAAACCACGGGCGCCCGC|IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME/IL12RB2_ENST00000541374.1_FIVE_PRIME_FLANK/IL12RB2_ENST00000544434.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8325_%2C_._%2C_0.1675|false|false|1||false|true|true|IL12RB2:3595|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12142823|67773351|false|false|0|true|0|false|0.85727_%2C_6.8686e-005_%2C_0.142661|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12142823] chr1 74671167 var_1_74671167 A ATTTC . PASS FUNCOTATION=[FPGT-TNNI3K|hg19|chr1|74671167|74671168|INTRON||INS|-|-|TTTC|g.chr1:74671167_74671168insTTTC|ENST00000370899.3|+|||c.e3+4073A>ATTTC|||0.395|ACTTGAAAAAGAGTGTGAAA|FPGT-TNNI3K_ENST00000557284.2_INTRON/FPGT_ENST00000370898.3_FRAME_SHIFT_INS_p.K492fs/FPGT_ENST00000534056.1_FRAME_SHIFT_INS_p.K225fs/FPGT_ENST00000370894.5_THREE_PRIME_UTR/FPGT-TNNI3K_ENST00000370895.1_INTRON/FPGT-TNNI3K_ENST00000370893.1_INTRON/FPGT_ENST00000609362.1_FRAME_SHIFT_INS_p.K479fs/TNNI3K_ENST00000370891.2_INTRON/FPGT_ENST00000524915.1_INTRON/FPGT-TNNI3K_ENST00000533006.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|FPGT-TNNI3K:100526835_%7C_FPGT:8790|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763292758|74671167|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|true|false|DIV|true|0x050000881205040402000200|1|false|144|rs763292758] -chr1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743] +chr1 86841963 indel.4587 G GT . PASS FUNCOTATION=[ODF2L|hg19|chr1|86841963|86841964|FRAME_SHIFT_INS||INS|-|-|T|g.chr1:86841963_86841964insT|ENST00000370566.3|-|8|1130|c.762_763insA|c.(763-765)catfs|p.H255fs|0.2775|CTGTAAAATGGTCAAGCCTT|ODF2L_ENST00000359242.3_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000294678.2_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000317336.7_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000370567.1_FRAME_SHIFT_INS_p.H255fs/ODF2L_ENST00000394731.1_FRAME_SHIFT_INS_p.H124fs/ODF2L_ENST00000524695.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ODF2L:57489|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|867604743|86841963|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000402000200|1|false|147|rs867604743] chr1 92729242 indel.4840 A AG . PASS FUNCOTATION=[GLMN|hg19|chr1|92729242|92729243|FRAME_SHIFT_INS||INS|-|-|G|g.chr1:92729242_92729243insG|ENST00000370360.3|-|15|1429|c.1346_1347insC|c.(1345-1347)cttfs|p.L450fs|0.325|CAAATCAAGAAGGGAAATCA|GLMN_ENST00000534881.1_FRAME_SHIFT_INS_p.L436fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GLMN:11146|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|763357116|92729242|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs763357116] chr1 100327026 rs2307129 C T . PASS FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129] chr1 110300600 indel.5498 C CCTGCTGGTTTT . PASS FUNCOTATION=[EPS8L3|hg19|chr1|110300600|110300601|FRAME_SHIFT_INS||INS|-|-|CTGCTGGTTTT|g.chr1:110300600_110300601insCTGCTGGTTTT|ENST00000369805.3|-|9|1031|c.800_801insAAAACCAGCAG|c.(799-801)aagfs|p.K269fs|0.58|AAATTTCTTCTTCCTGCTGG|EPS8L3_ENST00000361965.4_FRAME_SHIFT_INS_p.K268fs/EPS8L3_ENST00000361852.4_FRAME_SHIFT_INS_p.K268fs/RP4-735C1.4_ENST00000431955.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|EPS8L3:79574_%7C_LOC101928585:101928585|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|562835845|110300600|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000081205040402000200|1|false|142|rs562835845] chr1 113010195 exm84380 T G . PASS FUNCOTATION=[WNT2B|hg19|chr1|113010195|113010195|DE_NOVO_START_OUT_FRAME||SNP|T|T|G|g.chr1:113010195T>G|ENST00000256640.5|+|1|||||0.36658354114713215|CCATAAGCATTTTTGGAATTC|WNT2B_ENST00000369686.5_MISSENSE_p.I12M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997|false|false|0||false|false|false|WNT2B:7482|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|189656664|113010195|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050000400a05040436000100|1|false|135|rs189656664] -chr1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397] +chr1 114447565 exm2230834 G A . PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397] chr1 120307172 indel.6031 A ATTGGCCTCCAGGGCCA . PASS FUNCOTATION=[HMGCS2|hg19|chr1|120307172|120307173|FRAME_SHIFT_INS||INS|-|-|TTGGCCTCCAGGGCCA|g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA|ENST00000369406.3|-|2|232|c.181_182insTGGCCCTGGAGGCCAA|c.(181-183)gtcfs|p.Y62fs|0.4875|GGGAAGTAGACCTCCAGGGC|HMGCS2_ENST00000544913.2_FRAME_SHIFT_INS_p.Y62fs/HMGCS2_ENST00000476640.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 156571202 exm109653 G A . PASS FUNCOTATION=[GPATCH4|hg19|chr1|156571202|156571202|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:156571202G>A|ENST00000438976.2|-|1|61|c.30C>T|c.(28-30)gaC>gaT|p.D10D|0.5610972568578554|GCCCCTTACCGTCATTGCTGG|GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GPATCH4:54865|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202090190|156571202|false|false|0|false|0|true|0.999279_%2C_0.000721203|false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs202090190] -chr1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797] -chr1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341] +chr1 156571202 exm109653 G A . PASS FUNCOTATION=[GPATCH4|hg19|chr1|156571202|156571202|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr1:156571202G>A|ENST00000438976.2|-|1|61|c.30C>T|c.(28-30)gaC>gaT|p.D10D|0.5610972568578554|GCCCCTTACCGTCATTGCTGG|GPATCH4_ENST00000368232.4_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000334588.7_DE_NOVO_START_OUT_FRAME/GPATCH4_ENST00000497287.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|GPATCH4:54865|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|202090190|156571202|false|false|0|false|0|true|0.999279_%2C_0.000721203|false|false|true|SNV|true|0x050000400305040402000100|1|false|137|rs202090190] +chr1 171154418 rs28369797 C T . PASS FUNCOTATION=[FMO2|hg19|chr1|171154418|171154418|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:171154418C>T|ENST00000209929.7|+|1|||||0.43640897755610975|CTCTTAAAAACGCTTCCAACT|FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME/FMO2_ENST00000529935.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9882_%2C_._%2C_0.01178|false|false|1||false|true|false|FMO2:2327|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|28369797|171154418|false|false|0|true|0|false|0.993028_%2C_._%2C_0.00697163|true|false|true|SNV|true|0x050110400005150537000100|1|false|125|rs28369797] +chr1 209932121 rs10489341 C T . PASS FUNCOTATION=[TRAF3IP3|hg19|chr1|209932121|209932121|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:209932121C>T|ENST00000367024.1|+|1|||||0.5236907730673317|GAATTTCCAACGCTCAGGATC|TRAF3IP3_ENST00000367025.3_INTRON/TRAF3IP3_ENST00000367026.3_INTRON/TRAF3IP3_ENST00000400959.3_INTRON/TRAF3IP3_ENST00000010338.4_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8838_%2C_0.1162|false|false|1||false|true|false|TRAF3IP3:80342|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|10489341|209932121|false|false|0|true|0|false|0.849876_%2C_0.150124|false|false|true|SNV|true|0x05012848000515053f000100|1|false|119|rs10489341] chr1 228296020 variant.10429 C A . PASS FUNCOTATION=[MRPL55|hg19|chr1|228296020|228296020|DE_NOVO_START_IN_FRAME||SNP|C|C|A|g.chr1:228296020C>A|ENST00000366735.1|-|1|||||0.5286783042394015|GGCGTGCAACCTGCTAGGCAG|MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000411464.2_SPLICE_SITE/MRPL55_ENST00000366733.1_SPLICE_SITE/MRPL55_ENST00000336520.3_SPLICE_SITE/MRPL55_ENST00000366744.1_SPLICE_SITE/MRPL55_ENST00000336300.5_SPLICE_SITE/MRPL55_ENST00000348259.5_SPLICE_SITE/MRPL55_ENST00000366736.1_SPLICE_SITE/MRPL55_ENST00000366739.1_SPLICE_SITE/MRPL55_ENST00000295008.4_SPLICE_SITE/MRPL55_ENST00000366741.1_SPLICE_SITE/MRPL55_ENST00000366747.3_SPLICE_SITE/MRPL55_ENST00000366746.3_SPLICE_SITE/MRPL55_ENST00000366732.1_SPLICE_SITE/MRPL55_ENST00000366738.1_SPLICE_SITE/MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME/MRPL55_ENST00000366731.5_SPLICE_SITE/MRPL55_ENST00000430433.1_SPLICE_SITE/MRPL55_ENST00000465397.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|MRPL55:128308|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|868542799|228296020|false|false|0|false|0|false|0.999931_%2C_6.86908e-005|false|false|true|SNV|false|0x050000600005000402000100|1|false|147|rs868542799] chr2 3519739 rs6422709 C A . PASS FUNCOTATION=[ADI1|hg19|chr2|3519739|3519739|INTRON||SNP|C|C|A|g.chr2:3519739C>A|ENST00000327435.6|-|||c.e2+1992G>T|||0.38154613466334164|AAAACTTAGCCTATCCACTGC|ADI1_ENST00000382093.5_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8101_%2C_0.1899|false|false|1||false|true|true|ADI1:55256|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|6422709|3519739|false|false|0|true|0|false|0.805468_%2C_0.194532|false|false|true|SNV|true|0x05010048000517053f000100|1|false|116|rs6422709] -chr2 27603003 exm181213 G A . PASS FUNCOTATION=[ZNF513|hg19|chr2|27603003|27603003|SILENT||SNP|G|G|A|g.chr2:27603003G>A|ENST00000323703.6|-|2|367|c.168C>T|c.(166-168)gaC>gaT|p.D56D|0.5461346633416458|CACTGTTGCCGTCGCCTTCCT|ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997_%2C_.|false|false|0||false|false|false|ZNF513:130557|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144091327|27603003|false|false|0|false|0|true|0.999519_%2C_0.000480835_%2C_.|false|false|true|SNV|true|0x050000420b05040436000100|1|false|134|rs144091327] +chr2 27603003 exm181213 G A . PASS FUNCOTATION=[ZNF513|hg19|chr2|27603003|27603003|SILENT||SNP|G|G|A|g.chr2:27603003G>A|ENST00000323703.6|-|2|367|c.168C>T|c.(166-168)gaC>gaT|p.D56D|0.5461346633416458|CACTGTTGCCGTCGCCTTCCT|ZNF513_ENST00000407879.1_DE_NOVO_START_OUT_FRAME/ZNF513_ENST00000491924.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9998_%2C_0.0001997_%2C_.|false|false|0||false|false|false|ZNF513:130557|false|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|true|true|144091327|27603003|false|false|0|false|0|true|0.999519_%2C_0.000480835_%2C_.|false|false|true|SNV|true|0x050000420b05040436000100|1|false|134|rs144091327] chr2 36818090 exm186382 T C . PASS FUNCOTATION=[FEZ2|hg19|chr2|36818090|36818090|MISSENSE||SNP|T|T|C|g.chr2:36818090T>C|ENST00000379245.4|-|2|380|c.331A>G|c.(331-333)Act>Gct|p.T111A|0.371571072319202|AAGGTCCTAGTATGCGATGAC|FEZ2_ENST00000405912.3_MISSENSE_p.T111A/FEZ2_ENST00000305852.7_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|FEZ2:9637|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|35730082|36818090|true|false|0|true|0|false|0.999622_%2C_0.000377799|false|false|false|SNV|true|0x050100000a05040536000100|1|false|126|rs35730082] -chr2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286] +chr2 169926086 rs11889286 C T . PASS FUNCOTATION=[DHRS9|hg19|chr2|169926086|169926086|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr2:169926086C>T|ENST00000357546.2|+|2|||||0.4239401496259352|CAGAGCTCTACGGAAACCCAG|DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000327239.4_INTRON/DHRS9_ENST00000602501.1_INTRON/DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME/DHRS9_ENST00000432060.2_INTRON/DHRS9_ENST00000436483.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9786_%2C_0.02137|false|false|1||false|true|false|DHRS9:10170|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11889286|169926086|false|false|0|true|0|false|0.971118_%2C_0.0288825|false|false|true|SNV|true|0x05010048000515053f000100|1|false|120|rs11889286] chr2 187487140 indel.64390 A ACCT . PASS FUNCOTATION=[ITGAV|hg19|chr2|187487140|187487141|IN_FRAME_INS||INS|-|-|CCT|g.chr2:187487140_187487141insCCT|ENST00000261023.3|+|3|665|c.391_392insCCT|c.(391-393)aaa>aCCTaa|p.K131T*|0.3675|GTGAGGTCGAAACAGGATAA|ITGAV_ENST00000374907.3_IN_FRAME_INS_p.K131T*/ITGAV_ENST00000433736.2_IN_FRAME_INS_p.K85T*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ITGAV:3685|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|762770151|187487140|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs762770151] -chr2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747] +chr2 220462640 exm269819 G T . PASS FUNCOTATION=[STK11IP|hg19|chr2|220462640|220462640|DE_NOVO_START_IN_FRAME||SNP|G|G|T|g.chr2:220462640G>T|ENST00000456909.1|+|1|||||0.6209476309226932|CAGACGGGGAGGTTCGGTATG|STK11IP_ENST00000295641.10_MISSENSE_p.R1M/STK11IP_ENST00000459692.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1667_%2C_0.8333|false|false|1||false|true|false|STK11IP:114790|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|681747|220462640|false|false|0|true|0|false|0.236589_%2C_0.763411|false|false|true|SNV|true|0x05010040000515053f000101|1|false|83|rs681747] chr2 238667455 indel.66367 G GTAA . PASS FUNCOTATION=[LRRFIP1|hg19|chr2|238667455|238667456|IN_FRAME_INS||INS|-|-|TAA|g.chr2:238667455_238667456insTAA|ENST00000308482.9|+|18|1377|c.1308_1309insTAA|c.(1309-1311)gaa>TAAgaa|p.436_437ins*|0.3775|GCTGAAAGAGGAATTAAAGG|LRRFIP1_ENST00000244815.5_INTRON/LRRFIP1_ENST00000289175.6_INTRON/LRRFIP1_ENST00000392000.4_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LRRFIP1:9208|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|752147133|238667455|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000200|1|false|144|rs752147133] chr3 57743569 exm325975 C T . PASS FUNCOTATION=[SLMAP|hg19|chr3|57743569|57743569|MISSENSE||SNP|C|C|T|g.chr3:57743569C>T|ENST00000295951.3|+|2|1408|c.191C>T|c.(190-192)aCg>aTg|p.T64M|0.5112219451371571|GATCACAAGACGGGCAAGGTA|SLMAP_ENST00000383718.3_MISSENSE_p.T64M/SLMAP_ENST00000428312.1_MISSENSE_p.T64M/SLMAP_ENST00000449503.2_MISSENSE_p.T64M/SLMAP_ENST00000295952.3_MISSENSE_p.T64M/SLMAP_ENST00000416870.1_DE_NOVO_START_IN_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|SLMAP:7871|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|149291683|57743569|false|false|0|false|0|false|0.999828_%2C_0.000171715|false|false|false|SNV|true|0x050000000a05040402000100|1|false|134|rs149291683] chr3 178936088 . A AGGT . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936088|178936089|IN_FRAME_INS||INS|-|-|GGT|g.chr3:178936088_178936089insGGT|ENST00000263967.3|+|10|1787|c.1630_1631insGGT|c.(1630-1632)act>aGGTct|p.T544RS|0.3|TCTGAAATCACTGAGCAGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -265,7 +265,7 @@ chr3 178936090 . T TGAG . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091 chr3 178936090 . T TGAGC . PASS FUNCOTATION=[PIK3CA|hg19|chr3|178936090|178936091|FRAME_SHIFT_INS||INS|-|-|GAGC|g.chr3:178936090_178936091insGAGC|ENST00000263967.3|+|10|1789|c.1632_1633insGAGC|c.(1633-1635)gagfs|p.Q546fs|0.3|TGAAATCACTGAGCAGGAGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr4 82126215 var_4_82126215 C A . PASS FUNCOTATION=[PRKG2|hg19|chr4|82126215|82126215|SPLICE_SITE|INTRON|SNP|C|C|A|g.chr4:82126215C>A|ENST00000395578.1|-|||c.e2+1G>T|c.e2-1||0.4513715710723192|GCTCAGGGACCTGAGAAGGCA|PRKG2_ENST00000264399.1_DE_NOVO_START_IN_FRAME/PRKG2_ENST00000418486.2_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|true||false|false|||false|false|false|PRKG2:5593|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|866277244|82126215|false|false|0|false|0|false||false|false|false|SNV|false|0x050000200005000402000100|1|false|147|rs866277244] chr4 87028376 exm411105 G A . PASS FUNCOTATION=[MAPK10|hg19|chr4|87028376|87028376|SPLICE_SITE|SILENT|SNP|G|G|A|g.chr4:87028376G>A|ENST00000395169.3|-|5|973|c.252C>T|c.(250-252)aaC>aaT|p.N84N|0.39900249376558605|CAAAACTCACGTTTTTATGGT|MAPK10_ENST00000395166.1_SPLICE_SITE_p.N84N/MAPK10_ENST00000395160.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000395157.3_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000359221.3_SPLICE_SITE_p.N122N/MAPK10_ENST00000361569.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000395161.2_SPLICE_SITE_p.N122N/MAPK10_ENST00000449047.2_DE_NOVO_START_IN_FRAME/MAPK10_ENST00000513839.1_SPLICE_SITE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|MAPK10:5602|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|200989776|87028376|false|true|0|false|0|true|0.999966_%2C_3.4343e-005|false|false|true|SNV|true|0x050200400305040402000100|1|false|137|rs200989776] -chr5 1882759 . C CAT . PASS FUNCOTATION=[IRX4|hg19|chr5|1882759|1882760|START_CODON_INS||INS|-|-|AT|g.chr5:1882759_1882760insAT|ENST00000505790.1|-|2|460|c.2_3insAT|||0.72|CGGGTAGGACATGGCGGGCG|IRX4_ENST00000231357.2_START_CODON_INS_/IRX4_ENST00000513692.1_START_CODON_INS_|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr5 1882759 . C CAT . PASS FUNCOTATION=[IRX4|hg19|chr5|1882759|1882760|START_CODON_INS||INS|-|-|AT|g.chr5:1882759_1882760insAT|ENST00000505790.1|-|2|460|c.2_3insAT|||0.72|CGGGTAGGACATGGCGGGCG|IRX4_ENST00000231357.2_START_CODON_INS_/IRX4_ENST00000513692.1_START_CODON_INS_/IRX4_ENST00000505938.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr6 88255394 var_6_88255394 CTTT C . PASS FUNCOTATION=[RARS2|hg19|chr6|88255395|88255397|IN_FRAME_DEL||DEL|TTT|TTT|-|g.chr6:88255395_88255397delTTT|ENST00000369536.5|-|7|521_523|c.472_474delAAA|c.(472-474)aaadel|p.K158del|0.2903225806451613|CTAAAGCTTCTTTGAGATTTGCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|RARS2:57038|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|757743894|88255395|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|DIV|true|0x050000000005040402000200|1|false|144|rs757743894] chr10 120795681 indel.14858 TCTCGGTCTCTTG T . PASS FUNCOTATION=[EIF3A|hg19|chr10|120795682|120795693|IN_FRAME_DEL||DEL|CTCGGTCTCTTG|CTCGGTCTCTTG|-|g.chr10:120795682_120795693delCTCGGTCTCTTG|ENST00000369144.3|-|22|4147_4158|c.4007_4018delCAAGAGACCGAG|c.(4006-4020)tcaagagaccgagaa>taa|p.1336_1340SRDRE>*|0.3859223300970874|CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG|EIF3A_ENST00000541549.1_IN_FRAME_DEL_p.1302_1306SRDRE>*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|EIF3A:8661|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|766037789|120795682|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000402000200|1|false|144|rs766037789] chr12 11243923 indel.23289 TTTCACC T . PASS FUNCOTATION=[TAS2R43|hg19|chr12|11243924|11243929|IN_FRAME_DEL||DEL|TTCACC|TTCACC|-|g.chr12:11243924_11243929delTTCACC|ENST00000531678.1|-|1|990_995|c.900_905delGGTGAA|c.(898-906)tgggtgaaa>tga|p.300_302WVK>*|0.35714285714285715|CTTCTCTCCTTTCACCCAGTACCTCA|TAS2R14_ENST00000381852.4_INTRON/PRR4_ENST00000536668.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRH1-TAS2R14:106707243_%7C_TAS2R43:259289_%7C_PRH1:5554_%7C_PRH1-PRR4:100533464|false|true|true|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|867813065|11243924|false|false|0|false|0|false||false|false|false|DIV|false|0x050000080005000402000210|1|false|147|rs867813065] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf index d48bec64603..fadfa3fa2a6 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.maf @@ -89,14 +89,14 @@ ## contig= ## contig= ## source=Funcotator -## GATKCommandLine= -## Funcotator 0.0.5 | Date 20183513T123510 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 +## GATKCommandLine= +## Funcotator 0.0.5 | Date 20184415T014444 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Activity_linked_to_OMIM FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values tumor_f t_alt_count t_ref_count n_alt_count n_ref_count Gencode_19_secondaryVariantClassification Achilles_Top_Genes CGC_Name CGC_GeneID CGC_Chr CGC_Chr_Band CGC_Cancer_Somatic_Mut CGC_Cancer_Germline_Mut CGC_Cancer_Syndrome CGC_Tissue_Type CGC_Cancer_Molecular_Genetics CGC_Other_Germline_Mut ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_ASSEMBLY ClinVar_rs CosmicFusion_fusion_id DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView DNARepairGenes_Accession_number_linked_to_NCBI_Entrez Familial_Cancer_Genes_Synonym Familial_Cancer_Genes_Reference Gencode_XHGNC_hgnc_id HGNC_HGNC_ID HGNC_Status HGNC_Locus_Type HGNC_Locus_Group HGNC_Previous_Symbols HGNC_Previous_Name HGNC_Synonyms HGNC_Name_Synonyms HGNC_Chromosome HGNC_Date_Modified HGNC_Date_Symbol_Changed HGNC_Date_Name_Changed HGNC_Accession_Numbers HGNC_Enzyme_IDs HGNC_Ensembl_Gene_ID HGNC_Pubmed_IDs HGNC_RefSeq_IDs HGNC_Gene_Family_ID HGNC_Gene_Family_Name HGNC_CCDS_IDs HGNC_Vega_ID HGNC_OMIM_ID(supplied_by_OMIM) HGNC_RefSeq(supplied_by_NCBI) HGNC_UniProt_ID(supplied_by_UniProt) HGNC_Ensembl_ID(supplied_by_Ensembl) HGNC_UCSC_ID(supplied_by_UCSC) Simple_Uniprot_alt_uniprot_accessions dbSNP_AC dbSNP_AF dbSNP_AN dbSNP_ASP dbSNP_ASS dbSNP_CAF dbSNP_CDA dbSNP_CFL dbSNP_COMMON dbSNP_DP dbSNP_DSS dbSNP_G5 dbSNP_G5A dbSNP_GENEINFO dbSNP_GNO dbSNP_HD dbSNP_INT dbSNP_KGPhase1 dbSNP_KGPhase3 dbSNP_LSD dbSNP_MTP dbSNP_MUT dbSNP_NOC dbSNP_NOV dbSNP_NSF dbSNP_NSM dbSNP_NSN dbSNP_OM dbSNP_OTH dbSNP_PM dbSNP_PMC dbSNP_R3 dbSNP_R5 dbSNP_REF dbSNP_RV dbSNP_S3D dbSNP_SAO dbSNP_SLO dbSNP_SSR dbSNP_SYN dbSNP_TOPMED dbSNP_TPA dbSNP_U3 dbSNP_U5 dbSNP_VC dbSNP_VP dbSNP_WGT dbSNP_WTD dbSNP_dbSNPBuildID dbSNP_ID HGNC_Entrez_Gene_ID(supplied_by_NCBI) dbSNP_RSPOS dbSNP_VLD -Unknown __UNKNOWN__ 1 10147 10148 + IGR DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10147delC no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAACCCTAACCCCTAACCCT 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ 1 10391 10476 + IGR DEL CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC 0.5801354401805869 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ 1 10397 10398 + IGR INS - - CCCTAACCCTAA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10397_10398insCCCTAACCCTAA no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCCCTAACCCCTAACCCT 0.575 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ 1 10492 10492 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10492C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGGCCCGCCCGCCCGGGTC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -Unknown __UNKNOWN__ 1 10719 10719 + IGR SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10719G>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGAGAGGCGCGCCGCGCCG 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DDX11L1 __UNKNOWN__ hg19 1 10147 10148 + 5'Flank DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10147delC ENST00000456328.2 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAACCCTAACCCCTAACCCT 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DDX11L1 __UNKNOWN__ hg19 1 10391 10476 + 5'Flank DEL CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA ENST00000456328.2 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC 0.5801354401805869 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DDX11L1 __UNKNOWN__ hg19 1 10397 10398 + 5'Flank INS - - CCCTAACCCTAA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10397_10398insCCCTAACCCTAA ENST00000456328.2 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCCCTAACCCCTAACCCT 0.575 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DDX11L1 __UNKNOWN__ hg19 1 10492 10492 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10492C>T ENST00000456328.2 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGGCCCGCCCGCCCGGGTC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false +DDX11L1 __UNKNOWN__ hg19 1 10719 10719 + 5'Flank SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10719G>C ENST00000456328.2 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGAGAGGCGCGCCGCGCCG 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DDX11L1 __UNKNOWN__ hg19 1 12719 12719 + Splice_Site SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12719G>C ENST00000456328.2 + c.e2-2G>C c.e2+2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTGTTGCAGAGGTGAGAGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false DDX11L1 __UNKNOWN__ hg19 1 12807 12807 + RNA SNP C C T 62635285 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12807C>T ENST00000456328.2 + c.e2+86C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGAGGCTTCGATGCCCCTC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false DDX11L1:100287102 false false true false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000080005000002000100 1 false 129 rs62635285 12807 false DDX11L1 __UNKNOWN__ hg19 1 13079 13079 + RNA SNP C C G 78890234 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13079C>G ENST00000456328.2 + c.e3-142C>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCTGGGTCGACAGACAGG 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false DDX11L1:100287102 true false true false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000080005040102000100 1 false 131 rs78890234 13079 true @@ -146,39 +146,39 @@ NOC2L __UNKNOWN__ hg19 1 881627 881627 + Silent SNP G G A 2272757 byFrequency;b NOC2L __UNKNOWN__ hg19 1 887801 887801 + Silent SNP A A G 3828047 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887801A>G ENST00000327044.6 - 10 1232 c.1182T>C c.(1180-1182)acT>acC p.T394T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTCTTGCGAGTGGTCATGG 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.07768,0.9223,. false false 1 false true false NOC2L:26155 true true false true true false false false false false false false false false false false false false false true false false 0 true 0 true 0.067381,0.932619,. false false false SNV 0x05010000030515053e000100 1 false 107 rs3828047 887801 true NOC2L __UNKNOWN__ hg19 1 888639 888639 + Silent SNP T T C 3748596 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:888639T>C ENST00000327044.6 - 9 968 c.918A>G c.(916-918)gaA>gaG p.E306E __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGAGACTCTTCCCCAGTGC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.07728,0.9227,. false false 1 false true false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 true 0.0672093,0.932791,. false false false SNV 0x050100000b0515053e000100 1 false 107 rs3748596 888639 true NOC2L __UNKNOWN__ hg19 1 888659 888659 + Missense_Mutation SNP T T C 3748597 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:888659T>C ENST00000327044.6 - 9 948 c.898A>G c.(898-900)Atc>Gtc p.I300V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCATACGATCACCATTCTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.07728,0.9227 false false 1 false true false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.0672093,0.932791 false false false SNV 0x050100000a0515053f000100 1 false 107 rs3748597 888659 true -KLHL17 __UNKNOWN__ hg19 1 897325 897325 + Silent SNP G G C 4970441 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897325G>C ENST00000338591.3 + 4 716 c.609G>C c.(607-609)gcG>gcC p.A203A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCCGATGCGCACTCCTGCA 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1408,0.8592,. false false 1 false true false KLHL17:339451 true true false true true false false false false false false false false false false false false false true true true false 0 true 0 true 0.167354,0.832646,. false false false SNV 0x05010002030515053e000100 1 false 111 rs4970441 897325 true -KLHL17 __UNKNOWN__ hg19 1 900505 900505 + Silent SNP G G C 28705211 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900505G>C ENST00000338591.3 + 12 1970 c.1863G>C c.(1861-1863)gtG>gtC p.V621V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTGGCGGTGCTGGAGCTGC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8313,0.1687 false false 1 false true false PLEKHN1:84069|KLHL17:339451 true true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.830071,0.169929 false false false SNV 0x050300020305150536000100 1 false 125 rs28705211 900505 true -KLHL17 __UNKNOWN__ hg19 1 900718 900725 + 3'UTR DEL TTAT TTAT - 142545439|374537094 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900718_900721delTTAT ENST00000338591.3 + 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTATTTATCTTATTTATTGAGGG 0.6014851485148515 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.6294,0.3706|0.6294,0.3706 false|false false|false 1|1 | false|false true|false false|false PLEKHN1:84069|KLHL17:339451|PLEKHN1:84069|KLHL17:339451 false|false false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|true false|false false|false false|false 0|0 false|false 0|0 false|false 0.619651,0.380349| false|false true|true false|false DIV|DIV 0x05000082000515003e000200|0x050000820005000002000200 1|1 false|false 134|138 rs142545439|rs374537094 900718|900723 true|false -KLHL17 __UNKNOWN__ hg19 1 900730 900730 + 3'UTR SNP G G A 3935066 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900730G>A ENST00000338591.3 + 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTATTGAGGGGTGAGGAGT 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3526,0.6474 false false 1 false true true PLEKHN1:84069|KLHL17:339451 true true false false true false false false false false false false false false false false false false true false true false 0 true 0 false 0.383405,0.616595 false true false SNV 0x05010082000517052f000100 1 false 108 rs3935066 900730 true -KLHL17 __UNKNOWN__ hg19 1 900972 900972 + 3'UTR SNP T T G 9697711 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900972T>G ENST00000338591.3 + 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGAGCAGTTGTCCTTCCT 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.06989,.,0.9301 false false 1 false true false PLEKHN1:84069|KLHL17:339451 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.0587952,.,0.941205 false true false SNV 0x05010082000515053e000100 1 false 119 rs9697711 900972 true -KLHL17 __UNKNOWN__ hg19 1 901023 901023 + 3'UTR SNP T T C 13303351 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:901023T>C ENST00000338591.3 + 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCTTGTAGTGGGTGCACAC 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1134,0.8866 false false 1 false true false PLEKHN1:84069|KLHL17:339451 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.121265,0.878735 false true false SNV 0x05010082000515053e000100 1 false 121 rs13303351 901023 true +KLHL17 __UNKNOWN__ hg19 1 897325 897325 + Silent SNP G G C 4970441 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897325G>C ENST00000338591.3 + 4 716 c.609G>C c.(607-609)gcG>gcC p.A203A NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCCGATGCGCACTCCTGCA 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1408,0.8592,. false false 1 false true false KLHL17:339451 true true false true true false false false false false false false false false false false false false true true true false 0 true 0 true 0.167354,0.832646,. false false false SNV 0x05010002030515053e000100 1 false 111 rs4970441 897325 true +KLHL17 __UNKNOWN__ hg19 1 900505 900505 + Silent SNP G G C 28705211 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900505G>C ENST00000338591.3 + 12 1970 c.1863G>C c.(1861-1863)gtG>gtC p.V621V PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTGGCGGTGCTGGAGCTGC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8313,0.1687 false false 1 false true false PLEKHN1:84069|KLHL17:339451 true true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.830071,0.169929 false false false SNV 0x050300020305150536000100 1 false 125 rs28705211 900505 true +KLHL17 __UNKNOWN__ hg19 1 900718 900725 + 3'UTR DEL TTAT TTAT - 142545439|374537094 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900718_900721delTTAT ENST00000338591.3 + 12 PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTATTTATCTTATTTATTGAGGG 0.6014851485148515 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.6294,0.3706|0.6294,0.3706 false|false false|false 1|1 | false|false true|false false|false PLEKHN1:84069|KLHL17:339451|PLEKHN1:84069|KLHL17:339451 false|false false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|true false|false false|false false|false 0|0 false|false 0|0 false|false 0.619651,0.380349| false|false true|true false|false DIV|DIV 0x05000082000515003e000200|0x050000820005000002000200 1|1 false|false 134|138 rs142545439|rs374537094 900718|900723 true|false +KLHL17 __UNKNOWN__ hg19 1 900730 900730 + 3'UTR SNP G G A 3935066 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900730G>A ENST00000338591.3 + 12 PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTATTGAGGGGTGAGGAGT 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3526,0.6474 false false 1 false true true PLEKHN1:84069|KLHL17:339451 true true false false true false false false false false false false false false false false false false true false true false 0 true 0 false 0.383405,0.616595 false true false SNV 0x05010082000517052f000100 1 false 108 rs3935066 900730 true +KLHL17 __UNKNOWN__ hg19 1 900972 900972 + 3'UTR SNP T T G 9697711 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900972T>G ENST00000338591.3 + 12 PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGAGCAGTTGTCCTTCCT 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.06989,.,0.9301 false false 1 false true false PLEKHN1:84069|KLHL17:339451 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.0587952,.,0.941205 false true false SNV 0x05010082000515053e000100 1 false 119 rs9697711 900972 true +KLHL17 __UNKNOWN__ hg19 1 901023 901023 + 3'UTR SNP T T C 13303351 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:901023T>C ENST00000338591.3 + 12 PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCTTGTAGTGGGTGCACAC 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1134,0.8866 false false 1 false true false PLEKHN1:84069|KLHL17:339451 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.121265,0.878735 false true false SNV 0x05010082000515053e000100 1 false 121 rs13303351 901023 true PLEKHN1 __UNKNOWN__ hg19 1 906272 906272 + Silent SNP A A C 28507236 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906272A>C ENST00000379410.3 + 6 533 c.498A>C c.(496-498)gcA>gcC p.A166A PLEKHN1_ENST00000379407.3_Silent_p.A166A|PLEKHN1_ENST00000379409.2_Silent_p.A206A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTGCCCGCACCCCTCCTGG 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8199,0.1801 false false 1 false true false PLEKHN1:84069 true false false true true false false false false false false false false false false false false false false true false false 0 true 0 true 0.850436,0.149564 false false false SNV 0x05010000030515013e000100 1 false 125 rs28507236 906272 true PLEKHN1 __UNKNOWN__ hg19 1 909238 909238 + Missense_Mutation SNP G G C 3829740 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:909238G>C ENST00000379410.3 + 14 1495 c.1460G>C c.(1459-1461)cGt>cCt p.R487P PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R452P|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R539P __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGTGCACGTGGACCCACG 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2234,0.7766 false false 1 false true true PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true true false 0 true 0 false 0.307061,0.692939 false false false SNV 0x050100000a0517053e000100 1 false 107 rs3829740 909238 true PLEKHN1 __UNKNOWN__ hg19 1 909242 909242 + Silent SNP A A G 3829739 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:909242A>G ENST00000379410.3 + 14 1499 c.1464A>G c.(1462-1464)ggA>ggG p.G488G PLEKHN1_ENST00000379407.3_Silent_p.G453G|PLEKHN1_ENST00000379409.2_Silent_p.G540G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCACGTGGACCCACGCCCT 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8682,0.1318 false false 1 false true false PLEKHN1:84069 true false false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.879456,0.120544 false false false SNV 0x05010000030515013e000100 1 false 107 rs3829739 909242 true C1orf170 __UNKNOWN__ hg19 1 911595 911595 + Missense_Mutation SNP A A G 7417106 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:911595A>G ENST00000341290.2 - 5 2024 c.1988T>C c.(1987-1989)gTg>gCg p.V663A C1orf170_ENST00000433179.2_Missense_Mutation_p.V683A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTTGCCCCACCTGCCGGCG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2897,0.7103 false false 1 false true false PERM1:84808 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.349818,0.650182 false false false SNV 0x050100000a0515053e000100 1 false 116 rs7417106 911595 true C1orf170 __UNKNOWN__ hg19 1 914333 914333 + Missense_Mutation SNP C C G 13302979 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:914333C>G ENST00000341290.2 - 3 1771 c.1735G>C c.(1735-1737)Gag>Cag p.E579Q C1orf170_ENST00000433179.2_Missense_Mutation_p.E599Q __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGCCCCCTCGGAGGCCGAC 0.7032418952618454 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4437,0.5563 false false 1 false true true PERM1:84808 true false false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.526547,0.473453 false false false SNV 0x050100000a0517013e000100 1 false 121 rs13302979 914333 true -HES4 __UNKNOWN__ hg19 1 935459 935459 + 5'UTR SNP A A G 3128113 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935459A>G ENST00000304952.6 - 1 HES4_ENST00000428771.2_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAGGGCGGATCCCGGCTCC 0.770573566084788 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3229,0.6771 false false 1 false true true HES4:57801 true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.394773,0.605227 false false true SNV 0x050100400005170136000100 1 false 103 rs3128113 935459 true -HES4 __UNKNOWN__ hg19 1 935492 935492 + 5'UTR SNP G G T 3121571 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935492G>T ENST00000428771.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTCAGGCCGTTTCCCTATT 0.773067331670823 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3229,0.6771 false false 1 false true true HES4:57801 true false false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.395597,0.604403 false false true SNV 0x050100400005170136000100 1 false 103 rs3121571 935492 true +HES4 __UNKNOWN__ hg19 1 935459 935459 + 5'UTR SNP A A G 3128113 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935459A>G ENST00000304952.6 - 1 HES4_ENST00000428771.2_5'UTR|HES4_ENST00000484667.2_5'Flank|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAGGGCGGATCCCGGCTCC 0.770573566084788 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3229,0.6771 false false 1 false true true HES4:57801 true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.394773,0.605227 false false true SNV 0x050100400005170136000100 1 false 103 rs3128113 935459 true +HES4 __UNKNOWN__ hg19 1 935492 935492 + 5'UTR SNP G G T 3121571 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:935492G>T ENST00000428771.2 - 1 HES4_ENST00000304952.6_5'Flank|HES4_ENST00000484667.2_5'Flank|RP11-54O7.17_ENST00000606034.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTCAGGCCGTTTCCCTATT 0.773067331670823 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3229,0.6771 false false 1 false true true HES4:57801 true false false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.395597,0.604403 false false true SNV 0x050100400005170136000100 1 false 103 rs3121571 935492 true ISG15 __UNKNOWN__ hg19 1 948846 948847 + 5'UTR INS - - A 3841266 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:948846_948847insA ENST00000379389.4 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAGGCTTATAATAGGGC 0.6225 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1456,0.8544 false false 1 false true false ISG15:9636 true false false true true false false false false false false false false false false false false false true false true false 0 true 0 false false false false DIV 0x05010002000515013e000200 1 false 107 rs3841266 948846 true ISG15 __UNKNOWN__ hg19 1 948870 948870 + 5'UTR SNP C C G 4615788 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:948870C>G ENST00000379389.4 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGCCTGCCGAAGCCGGCG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.09704,0.903 false false 1 false true false ISG15:9636 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.139021,0.860979 false false true SNV 0x05010040000515053e000100 1 false 111 rs4615788 948870 true ISG15 __UNKNOWN__ hg19 1 948921 948921 + 5'UTR SNP T T C 15842 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:948921T>C ENST00000379389.4 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGGAGCTTGTGCCGTGGC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.09685,0.9032,. false false 1 false true false ISG15:9636 true true false true true false false false false false false false false false false true true false false false true false 0 true 0 false 0.138608,0.861392,. false false true SNV 0x05012840000515053f000100 1 false 52 rs15842 948921 true RNF223 __UNKNOWN__ hg19 1 1009478 1009478 + 5'UTR SNP G G C 9442367 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1009478G>C ENST00000453464.2 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCCCTGCCGTGGCAGTGTC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1867,0.8133 false false 1 false true true RNF223:401934 true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.224466,0.775534 false false true SNV 0x05010040000517013e000100 1 false 119 rs9442367 1009478 true C1orf159 __UNKNOWN__ hg19 1 1027070 1027070 + Intron SNP G G A 11260590 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1027070G>A ENST00000379339.1 - c.e4+125C>T C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_5'UTR|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGGGCAGAGCCAAATGGAG 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8105,0.1895 false false 1 false true true C1orf159:54991 true false true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.785597,0.214403 false false false SNV 0x050100080005170136000100 1 false 120 rs11260590 1027070 true -CPSF3L __UNKNOWN__ hg19 1 1260009 1260010 + 5'UTR INS - - C 575875502 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1260009_1260010insC ENST00000435064.1 - 1 CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000450926.2_5'UTR|CPSF3L_ENST00000411962.1_5'UTR|CPSF3L_ENST00000419704.1_5'UTR|CPSF3L_ENST00000545578.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCCCGGACCCGCGAGGC 0.7625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPTP:80772|CPSF3L:54973|GLTPD1:80772 false false false false false false false false false false false false false false false false false false true false false false 0 false 0 false 0.991243,0.00875747 false false true DIV 0x050000420005040002000200 1 false 142 rs575875502 1260009 true -GLTPD1 __UNKNOWN__ hg19 1 1260168 1260168 + 5'UTR SNP C C A 61766199 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1260168C>A ENST00000343938.4 + 1 GLTPD1_ENST00000464957.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGGGCGGGGCGGTGGGCGGG 0.7605985037406484 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2911,0.7089 false false 1 false true true CPTP:80772|CPSF3L:54973|GLTPD1:80772 true false false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.328697,0.671303 false false true SNV 0x050100420005170136000100 1 false 129 rs61766199 1260168 true +CPSF3L __UNKNOWN__ hg19 1 1260009 1260010 + 5'UTR INS - - C 575875502 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1260009_1260010insC ENST00000435064.1 - 1 CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000450926.2_5'UTR|CPSF3L_ENST00000411962.1_5'UTR|CPSF3L_ENST00000419704.1_5'UTR|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|GLTPD1_ENST00000464957.1_5'Flank|CPSF3L_ENST00000540437.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCCCGGACCCGCGAGGC 0.7625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CPTP:80772|CPSF3L:54973|GLTPD1:80772 false false false false false false false false false false false false false false false false false false true false false false 0 false 0 false 0.991243,0.00875747 false false true DIV 0x050000420005040002000200 1 false 142 rs575875502 1260009 true +GLTPD1 __UNKNOWN__ hg19 1 1260168 1260168 + 5'UTR SNP C C A 61766199 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1260168C>A ENST00000343938.4 + 1 CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank|GLTPD1_ENST00000464957.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGGGCGGGGCGGTGGGCGGG 0.7605985037406484 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2911,0.7089 false false 1 false true true CPTP:80772|CPSF3L:54973|GLTPD1:80772 true false false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.328697,0.671303 false false true SNV 0x050100420005170136000100 1 false 129 rs61766199 1260168 true DVL1 __UNKNOWN__ hg19 1 1284490 1284490 + 5'UTR SNP G G A 150789461 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1284490G>A ENST00000378888.5 - 1 DVL1_ENST00000378891.5_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCGGCCCGGGGCTCGGACG 0.7805486284289277 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.237,0.763 false false 1 false true true LOC101929103:101929103|DVL1:1855 false false false true true false false false false false false false false false false false false true false false false false 0 true 0 false 0.238048,0.761952 false false true SNV 0x050100440005170036000100 1 false 134 rs150789461 1284490 true MIB2 __UNKNOWN__ hg19 1 1558792 1558792 + Missense_Mutation SNP T T C 12755088 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1558792T>C ENST00000505820.2 + 3 322 c.305T>C c.(304-306)aTg>aCg p.M102T MIB2_ENST00000520777.1_Missense_Mutation_p.M102T|MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Missense_Mutation_p.M102T|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000357210.4_Missense_Mutation_p.M45T|MIB2_ENST00000360522.4_Missense_Mutation_p.M45T|MIB2_ENST00000378710.3_Missense_Mutation_p.M45T|MIB2_ENST00000512004.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGCCCACCATGGACCCCTCT 0.7281795511221946 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2264,0.7736,. false false 1 false true false MIB2:142678 true true true true true false false false false false false true false false false false false false false true false false 0 true 0 false false false false SNV 0x050100080a0515053e000100 1 false 121 rs12755088 1558792 true -CDK11A __UNKNOWN__ hg19 1 1640295 1640312 + In_Frame_Del DEL TCCTCCTCC TCCTCCTCC - 199942750 by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1640295_1640303delTCCTCCTCC ENST00000358779.5 - 9 992_1000 c.903_911delGGAGGAGGA c.(901-912)gaggaggaggaa>gaa p.EEE302del CDK11A_ENST00000356200.3_In_Frame_Del_p.EEE278del|CDK11A_ENST00000378633.1_In_Frame_Del_p.EEE315del|CDK11A_ENST00000404249.3_In_Frame_Del_p.EEE312del|CDK11A_ENST00000357760.2_In_Frame_Del_p.EEE311del|CDK11A_ENST00000378638.2_In_Frame_Del_p.EEE278del|CDK11A_ENST00000378635.3_3'UTR|RP1-283E3.8_ENST00000598846.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTCCTCTTCCTCCTCCTCCTCCTCTG 0.5794621026894865 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CDK11A:728642 false false false true false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x05000000000500001e000200 1 false 137 rs199942750 1640295 false +CDK11A __UNKNOWN__ hg19 1 1640295 1640312 + In_Frame_Del DEL TCCTCCTCC TCCTCCTCC - 199942750 by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1640295_1640303delTCCTCCTCC ENST00000358779.5 - 9 992_1000 c.903_911delGGAGGAGGA c.(901-912)gaggaggaggaa>gaa p.EEE302del CDK11A_ENST00000356200.3_In_Frame_Del_p.EEE278del|CDK11A_ENST00000378633.1_In_Frame_Del_p.EEE315del|CDK11A_ENST00000404249.3_In_Frame_Del_p.EEE312del|CDK11A_ENST00000357760.2_In_Frame_Del_p.EEE311del|CDK11A_ENST00000378638.2_In_Frame_Del_p.EEE278del|CDK11A_ENST00000378635.3_3'UTR|CDK11A_ENST00000495016.1_5'Flank|RP1-283E3.8_ENST00000598846.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTCCTCTTCCTCCTCCTCCTCCTCTG 0.5794621026894865 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false CDK11A:728642 false false false true false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x05000000000500001e000200 1 false 137 rs199942750 1640295 false NADK __UNKNOWN__ hg19 1 1684347 1684348 + In_Frame_Ins INS - - CCT 150880809|71578334|765479702 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1684347_1684348insCCT ENST00000344463.4 - 14 1994 c.1771_1772insAGG c.(1771-1773)ggc>gAGGgc p.590_591insE NADK_ENST00000378625.1_In_Frame_Ins_p.590_591insE|NADK_ENST00000341426.5_In_Frame_Ins_p.445_446insE|NADK_ENST00000341991.3_In_Frame_Ins_p.445_446insE|NADK_ENST00000342348.5_In_Frame_Ins_p.413_414insE __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACCTAGCCCTCCTCCTC 0.5825 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ || || || true|true|true false|false|false || false|false|false false|false|false || || false|false|false false|false|false false|false|false NADK:65220|NADK:65220|NADK:65220 false|true|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false true|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false 0|0|0 false|true|false 0|0|0 false|false|false || false|false|false false|false|false false|false|false DIV|DIV|DIV 0x05000000000504000e000204|0x050100000005000102000200|0x050000000005000002000200 1|1|1 false|false|false 134|130|144 rs150880809|rs71578334|rs765479702 1684347|1684349|1684350 true|false|false -TMEM52 __UNKNOWN__ hg19 1 1850628 1850645 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - 575852588 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 86_94 c.69_77delCCTGCCGCT c.(67-78)ctcctgccgctg>ctg p.LPL24del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCTGCGGCAGCGGCAGGAGCGGCAGGA 0.7481662591687042 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.641,0.359 false false 1 false true true TMEM52:339456 false false false false true false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005170026000200 1 false 142 rs575852588 1850628 true +TMEM52 __UNKNOWN__ hg19 1 1850628 1850645 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - 575852588 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 86_94 c.69_77delCCTGCCGCT c.(67-78)ctcctgccgctg>ctg p.LPL24del TMEM52_ENST00000378602.3_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCTGCGGCAGCGGCAGGAGCGGCAGGA 0.7481662591687042 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.641,0.359 false false 1 false true true TMEM52:339456 false false false false true false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005170026000200 1 false 142 rs575852588 1850628 true MORN1 __UNKNOWN__ hg19 1 2258590 2258591 + Intron INS - - ACAC 149761185|61135926 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2258590_2258591insACAC ENST00000378531.3 - c.e13+3008T>GTGTT AL589739.1_ENST00000600779.1_Frame_Shift_Ins_p.R5fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGACACAGAAACAGAAACAC 0.4275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.2077,0.7921|0.2077,0.7921 false|false false|false 1|1 | false|false true|false true|false MORN1:79906|MORN1:79906 false|false false|false true|true false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x05000008000517002e000200|0x050000080005000002000200 1|1 false|false 134|129 rs149761185|rs61135926 2258590|2258593 true|false MORN1 __UNKNOWN__ hg19 1 2258627 2258630 + Intron DEL AG AG - 144331124 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2258627_2258628delAG ENST00000378531.3 - c.e13+3044CTG>G AL589739.1_ENST00000600779.1_Frame_Shift_Del_p.R17fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGAGACACAGAGACACAGAA 0.39800995024875624 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8407,0.1593 false false 1 false true false MORN1:79906 false false true true true false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x05000008000515003e000200 1 false 134 rs144331124 2258627 true MORN1 __UNKNOWN__ hg19 1 2258946 2258947 + Intron INS - - A 59142249|397940423 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2258946_2258947insA ENST00000378531.3 - c.e13+3364G>TG AL589739.1_ENST00000600779.1_Frame_Shift_Ins_p.R123fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACAAACACAGAGACACAG 0.5075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false | false|false false|false | | false|false true|false true|false MORN1:79906|MORN1:79906 false|false false|false true|true true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false 0.755924,0.244076| false|false false|false false|false DIV|DIV 0x05000008000507001e000200|0x050000080005000002000200 1|1 false|false 138|138 rs59142249|rs397940423 2258946|2258947 true|false ACTRT2 __UNKNOWN__ hg19 1 2938408 2938413 + In_Frame_Del DEL AGA AGA - 4013154 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2938408_2938410delAGA ENST00000378404.2 + 1 362_364 c.158_160delAGA c.(157-162)cagaag>cag p.K54del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGGCCAACCAGAAGAAGTACTT 0.5905707196029777 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8876,0.1124 false false 1 false true false ACTRT2:140625 false false false true true false false false false false false false false false false false false false false false true false 0 false 0 false 0.890652,0.109348 false false false DIV 0x05000000000515003e000200 1 false 108 rs4013154 2938408 true ESPN __UNKNOWN__ hg19 1 6509022 6509045 + In_Frame_Del DEL CCACCGCCGCCC CCACCGCCGCCC - 548962140 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6509022_6509033delCCACCGCCGCCC ENST00000377828.1 + 8 1953_1964 c.1786_1797delCCACCGCCGCCC c.(1786-1797)ccaccgccgcccdel p.PPPP596del ESPN_ENST00000461727.1_In_Frame_Del_p.PPPP30del|ESPN_ENST00000416731.1_In_Frame_Del_p.PPPP30del|ESPN_ENST00000475228.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC 0.7718446601941747 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9984,0.001597 false false 0 false false false ESPN:83715 false false false false true false false false false false false false false false false false false false false false false false 0 false 0 false 0.997047,0.0029535 false false false DIV 0x050000000005040026000200 1 false 142 rs548962140 6509022 true -UTS2 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 7913430 true +UTS2 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M|UTS2_ENST00000361696.5_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 7913430 true PTCHD2 __UNKNOWN__ hg19 1 11593793 11593794 + Intron INS - - GCACACACGCAC 113116961 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11593793_11593794insGCACACACGCAC ENST00000294484.6 + c.e18-645T>TGCACACACGCAC PTCHD2_ENST00000304391.6_5'UTR|PTCHD2_ENST00000389575.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGACACGCATGCACACACAC 0.5625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2478,0.3878 false false 1 false false false DISP3:57540|PTCHD2:57540 true false true false true false false false false false false false false false false false false false false false false false 0 true 0 false false false false DIV 0x05010008000514012e000200 1 false 132 rs113116961 11593793 true -FBXO2 __UNKNOWN__ hg19 1 11710779 11710780 + In_Frame_Ins INS - - GCG 148874459|538764329 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11710779_11710780insGCG ENST00000354287.4 - 2 477 c.134_135insCGC c.(133-135)gcg>gcCGCg p.45_46insA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCAGGTACGCGGCGGCGG 0.7275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.6534,0.3103|0.6534,0.3103 false|false false|false 1|1 | false|false false|true false|true FBXO2:26232|FBXO2:26232 false|false false|false false|false false|false false|true false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x05000000000504000e000200|0x050000000005170024000200 1|1 false|false 134|142 rs148874459|rs538764329 11710779|11710782 true|true +FBXO2 __UNKNOWN__ hg19 1 11710779 11710780 + In_Frame_Ins INS - - GCG 148874459|538764329 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11710779_11710780insGCG ENST00000354287.4 - 2 477 c.134_135insCGC c.(133-135)gcg>gcCGCg p.45_46insA FBXO44_ENST00000251546.4_5'Flank|FBXO44_ENST00000251547.5_5'Flank|FBXO44_ENST00000376760.1_5'Flank|FBXO44_ENST00000376762.4_5'Flank|FBXO44_ENST00000376768.1_5'Flank|FBXO44_ENST00000376770.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCAGGTACGCGGCGGCGG 0.7275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.6534,0.3103|0.6534,0.3103 false|false false|false 1|1 | false|false false|true false|true FBXO2:26232|FBXO2:26232 false|false false|false false|false false|false false|true false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x05000000000504000e000200|0x050000000005170024000200 1|1 false|false 134|142 rs148874459|rs538764329 11710779|11710782 true|true C1orf167 __UNKNOWN__ hg19 1 11844520 11844520 + Nonsense_Mutation SNP C C T 41275466 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11844520C>T ENST00000433342.1 + 15 3367 c.3367C>T c.(3367-3369)Cag>Tag p.Q1123* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATGAGGCCCAGCAGCAGGC 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.988,0.01198 false false 1 false false false C1orf167:284498 false false false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.984683,0.015317 false false false SNV 0x050000000605140036000100 1 false 127 rs41275466 11844520 true NPPA __UNKNOWN__ hg19 1 11906068 11906068 + Nonstop_Mutation SNP A A G 5065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11906068A>G ENST00000376480.3 - 3 553 c.454T>C c.(454-456)Tga>Cga p.*152R NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTATCTTCAGTACTGCAAA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8209,0.1791 false false 1 false true false NPPA:4878|NPPA-AS1:100379251 true true true true true false false false false false false false false false false true true false false true false false 0 true 0 false 0.737688,0.262312 true false false SNV 0x05013808020515053f000100 1 false 52 rs5065 11906068 true PRAMEF7 __UNKNOWN__ hg19 1 12980232 12980232 + Silent SNP G G A 9328937 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12980232G>A ENST00000361079.2 + 4 1507 c.1424G>A c.(1423-1425)tGa>tAa p.*475* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCTCTGTTGAATGCCTGCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PRAMEF7:441871 true true false true false false false false false false false false false false false false false false false true false false 0 true 0 true false false false SNV 0x050100000305040516000100 1 false 119 rs9328937 12980232 true @@ -191,7 +191,7 @@ UBR4 __UNKNOWN__ hg19 1 19408294 19408295 + Intron INS - - C 67232976 byFrequen PLA2G2C __UNKNOWN__ hg19 1 20501582 20501582 + Nonsense_Mutation SNP G G A 12139100 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20501582G>A ENST00000429261.2 - 2 158 c.97C>T c.(97-99)Cga>Tga p.R33* PLA2G2C_ENST00000247992.5_Nonsense_Mutation_p.R36*|PLA2G2C_ENST00000495760.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCACTTCGCCCCGTGATG 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7598,0.2402 false false 1 false true true PLA2G2C:391013 true true false true true false false false false false false false true false false false false false false true false false 0 true 0 false 0.791916,0.208084 false false false SNV 0x05010000060517053f000100 1 false 120 rs12139100 20501582 true USP48 __UNKNOWN__ hg19 1 22033386 22033387 + Frame_Shift_Del DEL A A - 532575338 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:22033386delA ENST00000529637.1 - 16 2010 c.1975delT c.(1975-1977)tccfs p.S659fs USP48_ENST00000308271.9_Intron|USP48_ENST00000374732.3_Intron|USP48_ENST00000400301.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATATATTTGGAAAAAAAAAAA 0.35910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false USP48:84196 false false true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205040002000200 1 false 142 rs532575338 22033386 true LACTBL1 __UNKNOWN__ hg19 1 23280024 23280025 + In_Frame_Ins INS - - CAC 764403246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23280024_23280025insCAC ENST00000426928.2 - 6 1153 c.1152_1153insGTG c.(1150-1155)gtgctg>gtgGTGctg p.384_385insV __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCAGCAGCACCAGGCCC 0.765 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false LACTBL1:646262 false false false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005000002000200 1 false 144 rs764403246 23280024 false -HNRNPR __UNKNOWN__ hg19 1 23670803 23670803 + DE_NOVO_START_IN_FRAME SNP G G C 12409193 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23670803G>C ENST00000374616.3 - 1 HNRNPR_ENST00000374612.1_DE_NOVO_START_IN_FRAME|HNRNPR_ENST00000478691.1_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCCCCCCTGATGGACTGAG 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6534,0.3466 false false 1 false true true HNRNPR:10236 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.645099,0.354901 false false true SNV 0x05010042000517053e000100 1 false 120 rs12409193 23670803 true +HNRNPR __UNKNOWN__ hg19 1 23670803 23670803 + DE_NOVO_START_IN_FRAME SNP G G C 12409193 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23670803G>C ENST00000374616.3 - 1 HNRNPR_ENST00000374612.1_DE_NOVO_START_IN_FRAME|HNRNPR_ENST00000478691.1_DE_NOVO_START_OUT_FRAME|HNRNPR_ENST00000302271.6_5'Flank|HNRNPR_ENST00000426846.2_5'Flank|HNRNPR_ENST00000427764.2_5'Flank|HNRNPR_ENST00000606561.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCCCCCCTGATGGACTGAG 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6534,0.3466 false false 1 false true true HNRNPR:10236 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.645099,0.354901 false false true SNV 0x05010042000517053e000100 1 false 120 rs12409193 23670803 true MDS2 __UNKNOWN__ hg19 1 23966894 23966895 + In_Frame_Ins INS - - AAG 3072132|5773050 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23966894_23966895insAAG ENST00000374555.3 + 7 865 c.278_279insAAG c.(277-279)gta>gtAAGa p.93_94insR MDS2_ENST00000477916.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGCTTTGTAAGAAGAAAA 0.4525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.7232,0.2768|0.7232,0.2768 false|false false|false 1|1 | false|false true|false true|false MDS2:259283|MDS2:259283 false|false false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|false false|false 0|0 true|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x05010000000517003e000200|0x050000000005000002000200 1|1 false|false 102|138 rs3072132|rs5773050 23966894|23966902 true|false UBXN11 __UNKNOWN__ hg19 1 26608826 26608839 + Frame_Shift_Del DEL GGGGCCG GGGGCCG - 752317296 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26608826_26608832delGGGGCCG ENST00000374222.1 - 16 1993_1999 c.1521_1527delCGGCCCC c.(1519-1527)cccggccccfs p.G508fs UBXN11_ENST00000374221.3_Frame_Shift_Del_p.G508fs|UBXN11_ENST00000314675.7_Frame_Shift_Del_p.G388fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.G475fs|UBXN11_ENST00000374223.1_Frame_Shift_Del_p.G265fs|UBXN11_ENST00000374217.2_Frame_Shift_Del_p.G475fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGGGACTGGGGCCGGGACCGGGAC 0.7002457002457002 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false UBXN11:91544 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs752317296 26608826 false UBXN11 __UNKNOWN__ hg19 1 26608836 26608869 + Frame_Shift_Del DEL CCGGGACCGGGACTGGG CCGGGACCGGGACTGGG - 757094832 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26608836_26608852delCCGGGACCGGGACTGGG ENST00000374222.1 - 16 1983_1999 c.1501_1517delCCCAGTCCCGGTCCCGG c.(1501-1518)cccagtcccggtcccggtfs p.P501fs UBXN11_ENST00000374221.3_Frame_Shift_Del_p.P501fs|UBXN11_ENST00000314675.7_Frame_Shift_Del_p.P381fs|UBXN11_ENST00000357089.4_Frame_Shift_Del_p.P468fs|UBXN11_ENST00000374223.1_Frame_Shift_Del_p.P258fs|UBXN11_ENST00000374217.2_Frame_Shift_Del_p.P468fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCG 0.6954436450839329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false UBXN11:91544 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs757094832 26608836 false @@ -202,9 +202,9 @@ PHACTR4 __UNKNOWN__ hg19 1 28800359 28800364 + In_Frame_Del DEL GAG GAG - __U PHACTR4 __UNKNOWN__ hg19 1 28800364 28800365 + Frame_Shift_Ins INS - - TAATGATACGG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28800364_28800365insTAATGATACGG ENST00000373836.3 + 6 1366 c.1152_1153insTAATGATACGG c.(1153-1155)ccafs p.P385fs PHACTR4_ENST00000373839.3_Frame_Shift_Ins_p.P375fs|PHACTR4_ENST00000493669.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTGAGTTTCCACCATCCT 0.525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PHACTR4 __UNKNOWN__ hg19 1 28800371 28800372 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28800371delT ENST00000373836.3 + 6 1372 c.1159delT c.(1159-1161)tccfs p.S387fs PHACTR4_ENST00000373839.3_Frame_Shift_Del_p.S377fs|PHACTR4_ENST00000493669.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTCCACCATCCTTAGATCT 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PHACTR4 __UNKNOWN__ hg19 1 28800375 28800375 + Nonsense_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28800375T>G ENST00000373836.3 + 6 1377 c.1163T>G c.(1162-1164)tTa>tGa p.L388* PHACTR4_ENST00000373839.3_Nonsense_Mutation_p.L378*|PHACTR4_ENST00000493669.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCATCCTTAGATCTACAC 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -SERINC2 __UNKNOWN__ hg19 1 31882582 31882583 + 5'UTR INS - - GCCTCA 4012494|6143179 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:31882582_31882583insGCCTCA ENST00000373710.1 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAAGGGATGGCCCTGCTCT 0.5025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.4065,0.5935|0.4065,0.5935 false|false false|false 1|1 | false|false true|false true|false SERINC2:347735|SERINC2:347735 true|true false|false false|false false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|true false|false true|false false|false 0|0 true|true 0|0 false|false | false|false false|false true|true DIV|DIV 0x05010042000517012e000200|0x050100420005000102000200 1|1 false|false 108|130 rs4012494|rs6143179 31882582|31882585 true|false +SERINC2 __UNKNOWN__ hg19 1 31882582 31882583 + 5'UTR INS - - GCCTCA 4012494|6143179 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:31882582_31882583insGCCTCA ENST00000373710.1 + 1 SERINC2_ENST00000373709.3_5'Flank|SERINC2_ENST00000491976.1_5'Flank|SERINC2_ENST00000536384.1_5'Flank|SERINC2_ENST00000536859.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAAGGGATGGCCCTGCTCT 0.5025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.4065,0.5935|0.4065,0.5935 false|false false|false 1|1 | false|false true|false true|false SERINC2:347735|SERINC2:347735 true|true false|false false|false false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|true false|false true|false false|false 0|0 true|true 0|0 false|false | false|false false|false true|true DIV|DIV 0x05010042000517012e000200|0x050100420005000102000200 1|1 false|false 108|130 rs4012494|rs6143179 31882582|31882585 true|false SERINC2 __UNKNOWN__ hg19 1 31905889 31905890 + In_Frame_Ins INS - - CAG 3050461|5773362 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:31905889_31905890insCAG ENST00000373709.3 + 9 1239 c.1089_1090insCAG c.(1090-1092)cag>CAGcag p.363_364insQ SERINC2_ENST00000373710.1_In_Frame_Ins_p.372_373insQ|SERINC2_ENST00000536384.1_In_Frame_Ins_p.367_368insQ|SERINC2_ENST00000536859.1_In_Frame_Ins_p.367_368insQ|SERINC2_ENST00000491976.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGACGCCACACAGCAGCAGC 0.6025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.261,0.739|0.261,0.739 false|false false|false 1|1 | false|false true|false true|false SERINC2:347735|SERINC2:347735 false|true false|false false|false false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|false false|false 0|0 true|true 0|0 false|false | false|false false|false false|false DIV|DIV 0x05010000000517002e000200|0x050100000005000102000200 1|1 false|false 102|126 rs3050461|rs5773362 31905889|31905904 true|false -C1orf216 __UNKNOWN__ hg19 1 36184975 36184975 + DE_NOVO_START_OUT_FRAME SNP G G A 7521021 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36184975G>A ENST00000270815.4 - 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAGATCACGTTCGTTCCCC 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.02416,0.9758 false false 1 false true false C1orf216:127703 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.025929,0.974071 false false false SNV 0x05010002000515053f000100 1 false 116 rs7521021 36184975 true +C1orf216 __UNKNOWN__ hg19 1 36184975 36184975 + DE_NOVO_START_OUT_FRAME SNP G G A 7521021 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36184975G>A ENST00000270815.4 - 1 C1orf216_ENST00000503824.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAGATCACGTTCGTTCCCC 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.02416,0.9758 false false 1 false true false C1orf216:127703 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.025929,0.974071 false false false SNV 0x05010002000515053f000100 1 false 116 rs7521021 36184975 true MAP7D1 __UNKNOWN__ hg19 1 36643701 36643706 + In_Frame_Del DEL AGA AGA - 141305015|3045695 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36643701_36643703delAGA ENST00000373151.2 + 9 1822_1824 c.1607_1609delAGA c.(1606-1611)gagaag>gag p.K537del MAP7D1_ENST00000373150.4_In_Frame_Del_p.K505del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.K500del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.K83del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAGTAACGAGAAGGAGTCAGC 0.6972704714640199 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.9355,0.0645|0.9355,0.0645 false|false false|false 1|1 | false|false true|false false|false MAP7D1:55700|MAP7D1:55700 false|false false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|true false|false 0|0 false|true 0|0 false|false 0.973178,0.0268219| false|false false|false false|false DIV|DIV 0x05000000000515003e000200|0x050100000005000002000200 1|1 false|false 134|102 rs141305015|rs3045695 36643701|36643703 true|false NT5C1A __UNKNOWN__ hg19 1 40131838 40131839 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40131838_40131839insC ENST00000235628.1 - 2 206 c.205_206insG c.(205-207)cagfs p.Q69fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTAGATCTGCTGCTCCTC 0.565 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NT5C1A __UNKNOWN__ hg19 1 40131850 40131851 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40131850_40131851insA ENST00000235628.1 - 2 194 c.193_194insT c.(193-195)gacfs p.D65fs __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTCCTCGTCCATGCGAAA 0.555 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false @@ -217,24 +217,24 @@ SLC5A9 __UNKNOWN__ hg19 1 48708228 48708228 + Nonsense_Mutation SNP G G T 85076 DMRTA2 __UNKNOWN__ hg19 1 50884774 50884785 + In_Frame_Del DEL CGGCGG CGGCGG - 761537995|4027495 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:50884774_50884779delCGGCGG ENST00000404795.3 - 3 1586_1591 c.1187_1192delCCGCCG c.(1186-1194)gccgccggg>ggg p.AA396del DMRTA2_ENST00000418121.1_In_Frame_Del_p.AA396del __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGCCCCCCGGCGGCGGCGGCGGC 0.7807881773399015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false | false|false false|false | | false|false false|false false|false DMRTA2:63950|DMRTA2:63950 false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x050000000005000002000200|0x050000000005000002000200 1|1 false|false 144|108 rs761537995|rs4027495 50884774|50884792 false|false DMRTA2 __UNKNOWN__ hg19 1 50884775 50884776 + In_Frame_Ins INS - - GCA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:50884775_50884776insGCA ENST00000404795.3 - 3 1584 c.1190_1191insTGC c.(1189-1191)gcc>gcTGCc p.397_398insA DMRTA2_ENST00000418121.1_In_Frame_Ins_p.397_398insA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCCCCGGCGGCGGCGG 0.78 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false NRD1 __UNKNOWN__ hg19 1 52306064 52306069 + In_Frame_Del DEL TCT TCT - 35723519|60220085 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:52306064_52306066delTCT ENST00000354831.7 - 2 655_657 c.462_464delAGA c.(460-465)gaagat>gat p.E154del NRD1_ENST00000352171.7_In_Frame_Del_p.E154del|NRD1_ENST00000539524.1_In_Frame_Del_p.E22del|NRD1_ENST00000544028.1_In_Frame_Del_p.E22del|NRD1_ENST00000485608.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATCATCATCTTCTTCTTCTT 0.36476426799007444 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.4383,0.5617|0.4383,0.5617 false|false false|false 1|1 | false|false true|false true|false NRD1:4898|NRDC:4898|NRD1:4898|NRDC:4898 false|true false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|true 0|0 false|false | false|false false|false false|false DIV|DIV 0x05000000000517003e000200|0x050100000005000102000200 1|1 false|false 126|129 rs35723519|rs60220085 52306064|52306075 true|false -DMRTB1 __UNKNOWN__ hg19 1 53925373 53925374 + In_Frame_Ins INS - - CCGCCC 575081928|766482978 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53925373_53925374insCCGCCC ENST00000371445.3 + 1 302 c.247_248insCCGCCC c.(247-249)gcc>gCCGCCCcc p.83_84insAP __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCGGCCGCCGCCCCCGC 0.7475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.8926,0.1074|0.8926,0.1074 false|false false|false 1|1 | false|false true|false false|false DMRTB1:63948|DMRTB1:63948 false|false false|false false|false false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x050000000005150026000200|0x050000000005000002000200 1|1 false|false 142|144 rs575081928|rs766482978 53925373|53925379 true|false +DMRTB1 __UNKNOWN__ hg19 1 53925373 53925374 + In_Frame_Ins INS - - CCGCCC 575081928|766482978 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53925373_53925374insCCGCCC ENST00000371445.3 + 1 302 c.247_248insCCGCCC c.(247-249)gcc>gCCGCCCcc p.83_84insAP DMRTB1_ENST00000463126.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCGGCCGCCGCCCCCGC 0.7475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.8926,0.1074|0.8926,0.1074 false|false false|false 1|1 | false|false true|false false|false DMRTB1:63948|DMRTB1:63948 false|false false|false false|false false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false false|false false|false DIV|DIV 0x050000000005150026000200|0x050000000005000002000200 1|1 false|false 142|144 rs575081928|rs766482978 53925373|53925379 true|false TTC4 __UNKNOWN__ hg19 1 55182300 55182300 + Missense_Mutation SNP T T A 1147990 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55182300T>A ENST00000371281.3 + 2 226 c.139T>A c.(139-141)Tcg>Acg p.S47T TTC4_ENST00000371284.5_Intron|MROH7-TTC4_ENST00000414150.2_Nonsense_Mutation_p.C1282* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTATTTATGTCGAGAGCGCC 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3317,0.6683 false false 1 false true false TTC4:7268|MROH7-TTC4:100527960 true true false true true false false false false false false true false false false true true false false true true false 0 true 0 false 0.448314,0.551686 false false false SNV 0x050128000a0515053f000101 1 false 87 rs1147990 55182300 true -PCSK9 __UNKNOWN__ hg19 1 55505552 55505553 + In_Frame_Ins INS - - CTG 45454392|113330492|35574083 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332 c.42_43insCTG c.(43-45)ctg>CTGctg p.14_15insL PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15insL __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGCTGCCACTGCTGCTGC 0.7075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ || || || true|true|true false|false|false || false|false|false false|false|false || || false|false|false true|false|false true|false|false PCSK9:255738|PCSK9:255738|PCSK9:255738 true|true|true false|false|false false|false|false false|false|false false|false|false false|false|true false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|true false|false|true false|false|false true|true|true false|false|false false|false|false false|false|false 0|0|1 false|true|true 0|0|0 false|false|false || false|false|false false|false|false false|false|false DIV|DIV|DIV 0x050000020005070102000200|0x050100020005000102000200|0x050168020005040102100200 1|1|1 false|false|false 127|132|126 rs45454392|rs113330492|rs35574083 55505554|55505563|55505575 true|false|true +PCSK9 __UNKNOWN__ hg19 1 55505552 55505553 + In_Frame_Ins INS - - CTG 45454392|113330492|35574083 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332 c.42_43insCTG c.(43-45)ctg>CTGctg p.14_15insL PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15insL|PCSK9_ENST00000543384.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGCTGCCACTGCTGCTGC 0.7075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ || || || true|true|true false|false|false || false|false|false false|false|false || || false|false|false true|false|false true|false|false PCSK9:255738|PCSK9:255738|PCSK9:255738 true|true|true false|false|false false|false|false false|false|false false|false|false false|false|true false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|true false|false|true false|false|false true|true|true false|false|false false|false|false false|false|false 0|0|1 false|true|true 0|0|0 false|false|false || false|false|false false|false|false false|false|false DIV|DIV|DIV 0x050000020005070102000200|0x050100020005000102000200|0x050168020005040102100200 1|1|1 false|false|false 127|132|126 rs45454392|rs113330492|rs35574083 55505554|55505563|55505575 true|false|true AGL __UNKNOWN__ hg19 1 100327026 100327026 + Intron SNP C C T 2307129 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:100327026C>T ENST00000294724.4 + c.e3-33C>T AGL_ENST00000361915.3_Intron|AGL_ENST00000370163.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME|AGL_ENST00000361302.3_Intron|AGL_ENST00000370161.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAAGTCCTACGATGAGTTTA 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7728,0.2272 false false 1 false true true AGL:178 true true true true true false false false false false false false false false false true true false false false true false 0 true 0 false 0.729068,0.270932 false false true SNV 0x05012848000517053f000100 1 false 100 rs2307129 100327026 true AMY1C __UNKNOWN__ hg19 1 104293194 104293194 + Nonsense_Mutation SNP C C T 938886200 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:104293194C>T ENST00000370079.3 + 1 167 c.103C>T c.(103-105)Cga>Tga p.R35* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTGAATGGCGATGGGTTGA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false AMY1C:278 false false false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000605000002000100 1 false 150 rs938886200 104293194 false RAP1A __UNKNOWN__ hg19 1 112162775 112162775 + DE_NOVO_START_OUT_FRAME SNP C C T 113172457 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:112162775C>T ENST00000545460.1 + 1 RAP1A_ENST00000369709.3_Intron|RAP1A_ENST00000356415.1_Intron|RAP1A_ENST00000436150.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCCAACCACGCCCGCGGAC 0.7206982543640897 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8762,0.1238 false false 1 false true false RAP1A:5906 false false true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.89546,0.10454 false false true SNV 0x050100480005150036000100 1 false 132 rs113172457 112162775 true -AP4B1 __UNKNOWN__ hg19 1 114447565 114447565 + DE_NOVO_START_OUT_FRAME SNP G G A 1217397 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:114447565G>A ENST00000369569.1 - 1 AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCTACCGTCGGCCGGCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6705,0.3295 false false 1 false true false DCLRE1B:64858|AP4B1:10717 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.586304,0.413696 false false true SNV 0x0501004a000515053f000101 1 false 87 rs1217397 114447565 true +AP4B1 __UNKNOWN__ hg19 1 114447565 114447565 + DE_NOVO_START_OUT_FRAME SNP G G A 1217397 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:114447565G>A ENST00000369569.1 - 1 AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCTACCGTCGGCCGGCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6705,0.3295 false false 1 false true false DCLRE1B:64858|AP4B1:10717 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.586304,0.413696 false false true SNV 0x0501004a000515053f000101 1 false 87 rs1217397 114447565 true PPIAL4B __UNKNOWN__ hg19 1 144364205 144364205 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:144364205G>A ENST00000540273.1 - 1 AL592284.1_ENST00000538264.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATGGTGGCGTCTGCAAAGA 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false PDE4DIP __UNKNOWN__ hg19 1 144864277 144864277 + Nonsense_Mutation SNP G G A 139257887 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:144864277G>A ENST00000530740.1 - 38 6112 c.6073C>T c.(6073-6075)Cga>Tga p.R2025* PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R2076*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1940*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1940*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1834*|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGGGATCGAGAGGACAGC 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false PDE4DIP:9659 false true false false false false false false false false false true true false false false false false false true false false 0 true 0 false false false false SNV 0x050100000e05040402000100 1 false 134 rs139257887 144864277 true PDE4DIP __UNKNOWN__ hg19 1 144916676 144916676 + Nonsense_Mutation SNP C C T 1698683 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:144916676C>T ENST00000530740.1 - 16 2129 c.2090G>A c.(2089-2091)tGg>tAg p.W697* PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.W347*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.W723*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.W723*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.W697*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.W560*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.W560*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.W626*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.W560*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.W560* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTTTCAGCCACTGGAGGTT 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false true true PDE4DIP:9659 true false false true false false false false false false false false true false false false false false false true true true 0 true 0 false false false false SNV 0x050300000605070116000100 1 false 89 rs1698683 144916676 true NOTCH2NL __UNKNOWN__ hg19 1 145273366 145273366 + Nonsense_Mutation SNP C C T 140871032 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:145273366C>T ENST00000369340.3 + 4 664 c.220C>T c.(220-222)Cga>Tga p.R74* NOTCH2NL_ENST00000362074.6_Nonsense_Mutation_p.R74*|NOTCH2NL_ENST00000344859.3_Nonsense_Mutation_p.R74*|RP11-458D21.5_ENST00000468030.1_Nonsense_Mutation_p.R74* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTGTGTCTCGACCTTGCCT 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false true false NOTCH2NL:388677 false false false false false false false false false false false true true false false false false false false true false true 0 true 0 false false false false SNV 0x050300000e05050002000100 1 false 134 rs140871032 145273366 true -OAZ3 __UNKNOWN__ hg19 1 151736876 151736876 + DE_NOVO_START_OUT_FRAME SNP C C T 1568485 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151736876C>T ENST00000479764.1 + 1 OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000315067.8_Intron|RP11-98D18.3_ENST00000512280.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCTCTTACGTATCCAAAG 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2428,0.7572 false false 1 false true false OAZ3:51686|MRPL9:65005 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.335394,0.664606 false false false SNV 0x0501000a000515053f000100 1 false 88 rs1568485 151736876 true +OAZ3 __UNKNOWN__ hg19 1 151736876 151736876 + DE_NOVO_START_OUT_FRAME SNP C C T 1568485 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151736876C>T ENST00000479764.1 + 1 OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000315067.8_Intron|OAZ3_ENST00000400999.1_5'Flank|OAZ3_ENST00000577465.1_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCTCTTACGTATCCAAAG 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2428,0.7572 false false 1 false true false OAZ3:51686|MRPL9:65005 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.335394,0.664606 false false false SNV 0x0501000a000515053f000100 1 false 88 rs1568485 151736876 true HRNR __UNKNOWN__ hg19 1 152195729 152195730 + Translation_Start_Site DEL T T - 34061715|530205886|397824794 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152195729delT ENST00000368801.2 - 2 78 c.1delA FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTTAGGCATTTTTTTTTTT 0.3640897755610973 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ || || || true|true|true false|false|false 0.07648,0.874|0.07648,0.874|0.07648,0.874 false|false|false false|false|false 1|1|1 || false|false|false false|true|false false|false|false HRNR:388697|HRNR:388697|HRNR:388697 true|false|true false|false|false false|false|false false|false|false false|true|false false|false|false false|false|false false|false|false false|false|false false|false|false true|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false false|false|false true|false|false false|false|false false|false|false 0|0|0 true|false|true 0|0|0 false|false|false || false|false|false false|false|false false|true|true DIV|DIV|DIV 0x050100001205000102000200|0x050000400005150024000200|0x050100400005000102000200 1|1|1 false|false|false 134|142|138 rs34061715|rs530205886|rs397824794 152195729|152195730|152195739 false|true|false LCE1D __UNKNOWN__ hg19 1 152770613 152770613 + Nonstop_Mutation SNP T T G 41268500 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152770613T>G ENST00000326233.6 + 2 386 c.343T>G c.(343-345)Tga>Gga p.*115G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCTGCTGCTGAAGTGGACC 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9419,0.05811 false false 1 false true false LCE1D:353134 false false false true true false false false false false false false false false false true true false false true false false 0 true 0 false false false false SNV 0x050128000205150036000100 1 false 127 rs41268500 152770613 true -SEMA4A __UNKNOWN__ hg19 1 156124223 156124224 + 5'UTR INS - - G 551865598 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:156124223_156124224insG ENST00000368282.1 + 1 SEMA4A_ENST00000368285.3_Intron|SEMA4A_ENST00000355014.2_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCCCCAATGCCCCACCCC 0.585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 0 false false false SEMA4A:64218 false false true false true false false false false false false false false false false false false false false false false false 0 false 0 false 0.998832,0.00116766 false false false DIV 0x050000080005040026000200 1 false 142 rs551865598 156124223 true +SEMA4A __UNKNOWN__ hg19 1 156124223 156124224 + 5'UTR INS - - G 551865598 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:156124223_156124224insG ENST00000368282.1 + 1 SEMA4A_ENST00000368285.3_Intron|SEMA4A_ENST00000355014.2_Intron|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368286.2_Intron|SEMA4A_ENST00000487358.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCCCCAATGCCCCACCCC 0.585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9992,0.0007987 false false 0 false false false SEMA4A:64218 false false true false true false false false false false false false false false false false false false false false false false 0 false 0 false 0.998832,0.00116766 false false false DIV 0x050000080005040026000200 1 false 142 rs551865598 156124223 true PAQR6 __UNKNOWN__ hg19 1 156213921 156213921 + Silent SNP C C T 7513351 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:156213921C>T ENST00000292291.5 - 8 1193 c.1034G>A c.(1033-1035)tGa>tAa p.*345* PAQR6_ENST00000335852.1_Missense_Mutation_p.E263K|PAQR6_ENST00000368270.1_Silent_p.*321*|PAQR6_ENST00000540423.1_Silent_p.*342*|PAQR6_ENST00000356983.2_Missense_Mutation_p.E263K|PAQR6_ENST00000492619.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGGGGCCTCACTGTTGTTT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7808,0.2192 false false 1 false true true PAQR6:79957 true true false true true false false false false false false true false false false true true false false true false false 0 true 0 true 0.822275,0.177725 false false false SNV 0x050128000b0517053f000100 1 false 116 rs7513351 156213921 true -DARC __UNKNOWN__ hg19 1 159174123 159174123 + DE_NOVO_START_OUT_FRAME SNP C C T 3027012 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159174123C>T ENST00000368122.2 + 1 DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME|CTA-134P22.2_ENST00000609696.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACAGCAAACGTACACAGAG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9085,0.09145 false false 1 false true false CADM3-AS1:100131825|ACKR1:2532 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.887492,0.112508 false false true SNV 0x05010042000515053f000100 1 false 102 rs3027012 159174123 true -FCGR3B __UNKNOWN__ hg19 1 161601097 161601097 + Intron SNP C C A 67020125 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161601097C>A ENST00000367964.2 - c.e2+169G>T FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGAAAGAGCCTGGAGGCAAG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9058,0.09425 false false 1 false true true FCGR3B:2215 false true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false true SNV 0x0501004a000517043e000100 1 false 130 rs67020125 161601097 true +DARC __UNKNOWN__ hg19 1 159174123 159174123 + DE_NOVO_START_OUT_FRAME SNP C C T 3027012 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159174123C>T ENST00000368122.2 + 1 DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME|DARC_ENST00000368121.2_5'Flank|CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACAGCAAACGTACACAGAG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9085,0.09145 false false 1 false true false CADM3-AS1:100131825|ACKR1:2532 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.887492,0.112508 false false true SNV 0x05010042000515053f000100 1 false 102 rs3027012 159174123 true +FCGR3B __UNKNOWN__ hg19 1 161601097 161601097 + Intron SNP C C A 67020125 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161601097C>A ENST00000367964.2 - c.e2+169G>T FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGAAAGAGCCTGGAGGCAAG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9058,0.09425 false false 1 false true true FCGR3B:2215 false true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false true SNV 0x0501004a000517043e000100 1 false 130 rs67020125 161601097 true POU2F1 __UNKNOWN__ hg19 1 167385325 167385326 + 3'UTR DEL A A - 34032944|779631157 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:167385325delA ENST00000367862.5 + 16 POU2F1_ENST00000367866.2_3'UTR|POU2F1_ENST00000420254.3_Nonstop_Mutation_p.K656fs|POU2F1_ENST00000367865.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCAAAAATTAAAAAAAAAAA 0.3266832917705736 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.3023,0.6977|0.3023,0.6977 false|false false|false 1|1 | false|false true|false true|false POU2F1:5451|POU2F1:5451 false|false false|false false|false false|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false 0|0 false|false 0|0 false|false | false|false true|true false|false DIV|DIV 0x050000800005170026000200|0x050000800005000002000200 1|1 false|false 126|144 rs34032944|rs779631157 167385325|167385326 true|false CFHR3 __UNKNOWN__ hg19 1 196757960 196757960 + Intron SNP G G A 116394410 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:196757960G>A ENST00000367425.4 + c.e4+432G>A CFHR3_ENST00000471440.2_Silent_p.*233*|CFHR3_ENST00000391985.3_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTCTGCTAGCGTCAGGAGA 0.3765586034912718 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9952,0.004792 false false 1 false false false CFHR3:10878 false true true true true false false false false false false false false false false false false false false true false false 0 true 0 true false false false SNV 0x050100080305040436000100 1 false 132 rs116394410 196757960 true COG2 __UNKNOWN__ hg19 1 230829139 230829139 + Silent SNP A A G 1051038 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:230829139A>G ENST00000366669.4 + 18 2332 c.2217A>G c.(2215-2217)taA>taG p.*739* COG2_ENST00000366668.3_Silent_p.*738*|COG2_ENST00000534989.1_Silent_p.*680*|COG2_ENST00000535166.1_Silent_p.*623*|COG2_ENST00000546013.1_Silent_p.*428* __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAGCCTTAAGCATCTTGGA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6554,0.3446 false false 1 false true true COG2:22796 true true false true true false false false false false false false false false false true true false false true false false 0 true 0 true 0.75577,0.24423 false false false SNV 0x05012800030517053f000100 1 false 86 rs1051038 230829139 true @@ -246,7 +246,7 @@ LAPTM4A __UNKNOWN__ hg19 2 20251675 20251675 + DE_NOVO_START_IN_FRAME SNP G G C RP11-507M3.1 __UNKNOWN__ hg19 2 24395506 24395506 + Nonstop_Mutation SNP T T C 889830 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:24395506T>C ENST00000584973.1 + 7 699 c.610T>C c.(610-612)Tga>Cga p.*204R AC008073.7_ENST00000428344.1_RNA|AC008073.7_ENST00000438414.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGACTCAAGTGATCCTCCCA 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1865,0.8135 false false 1 false true true FAM228A:653140 true false false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.232209,0.767791 false false false SNV 0x050100020005170136000100 1 false 86 rs889830 24395506 true HADHB __UNKNOWN__ hg19 2 26477125 26477126 + In_Frame_Ins INS - - ACT 1064793144 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:26477125_26477126insACT ENST00000317799.5 + 2 107 c.3_4insACT c.(4-6)act>ACTact p.1_2insT HADHB_ENST00000405867.3_In_Frame_Ins_p.1_2insT|HADHB_ENST00000537713.1_In_Frame_Ins_p.1_2insT|HADHB_ENST00000545822.1_5'UTR __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCAGAATGACTATCTTGA 0.325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2905,0.7095 false false 1 false false false HADHB:3032 false false false false false true false false false false false false false false false true false false false false false false 0 false 0 false false false true DIV 0x050060400005000002100200 1 false 150 rs1064793144 26477125 false NFU1 __UNKNOWN__ hg19 2 69659126 69659126 + Missense_Mutation SNP A A T 4453725 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:69659126A>T ENST00000410022.2 - 2 280 c.74T>A c.(73-75)aTg>aAg p.M25K NFU1_ENST00000303698.3_START_CODON_SNP_p.M1K|NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000471185.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCTTCAACATATGACAGAA 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6829,0.3171 false false 1 false true true NFU1:27247 true true false true true true false false false false false true false false false true false false false true true false 1 true 0 false 0.641434,0.358566 false false true SNV 0x050160400a0517053f100100 1 false 111 rs4453725 69659126 true -SNRNP27 __UNKNOWN__ hg19 2 70120910 70120911 + 5'UTR DEL A A - 3214822|397747233 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:70120910delA ENST00000244227.3 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAAAAATGAAAGCTGTGTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.6222,0.3778|0.6222,0.3778 false|false false|false 1|1 | false|false true|false true|false SNRNP27:11017|SNRNP27:11017 true|false false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|true false|false false|false false|false 0|0 true|true 0|0 false|false 0.661217,0.338783| false|false false|false false|false DIV|DIV 0x05010002000517013e000200|0x050100020005000002000200 1|1 false|false 134|138 rs3214822|rs397747233 70120910|70120912 true|false +SNRNP27 __UNKNOWN__ hg19 2 70120910 70120911 + 5'UTR DEL A A - 3214822|397747233 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:70120910delA ENST00000244227.3 + 1 SNRNP27_ENST00000409116.1_5'Flank|SNRNP27_ENST00000488986.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAAAAATGAAAGCTGTGTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ | | | true|true false|false 0.6222,0.3778|0.6222,0.3778 false|false false|false 1|1 | false|false true|false true|false SNRNP27:11017|SNRNP27:11017 true|false false|false false|false true|false true|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false false|false true|true false|false false|false false|false 0|0 true|true 0|0 false|false 0.661217,0.338783| false|false false|false false|false DIV|DIV 0x05010002000517013e000200|0x050100020005000002000200 1|1 false|false 134|138 rs3214822|rs397747233 70120910|70120912 true|false ATP6V1B1 __UNKNOWN__ hg19 2 71163086 71163086 + START_CODON_SNP SNP T T C 11681642 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:71163086T>C ENST00000234396.4 + 1 75 c.2T>C c.(1-3)aTg>aCg p.M1T ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACTGCTCCATGGCCATGGAG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6312,0.3688 false false 1 false true true ATP6V1B1:525 true true false true true false false false false false false true false false false true true false false true false false 0 true 0 false false false false SNV 0x050128000a05170537000100 1 false 120 rs11681642 71163086 true TGOLN2 __UNKNOWN__ hg19 2 85549868 85549868 + Missense_Mutation SNP A A G 4240199 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:85549868A>G ENST00000409232.3 - 4 1384 c.1322T>C c.(1321-1323)cTa>cCa p.L441P TGOLN2_ENST00000377386.3_Intron|TGOLN2_ENST00000398263.2_Intron|TGOLN2_ENST00000409015.1_Nonstop_Mutation_p.*455Q|TGOLN2_ENST00000282120.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTAGGACTTAGGGGAAAAAA 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.221,0.779 false false 1 false true false TGOLN2:10618 true true true true true false false false false false false true true false false false false false false true false false 0 true 0 false 0.29877,0.70123 false false false SNV 0x050100080e0515053e000100 1 false 111 rs4240199 85549868 true CD8B __UNKNOWN__ hg19 2 87069431 87069431 + Silent SNP C C T 4514875 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:87069431C>T ENST00000390655.6 - 6 691 c.632G>A c.(631-633)tGa>tAa p.*211* CD8B_ENST00000393759.2_Intron|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000331469.2_Intron|CD8B_ENST00000393761.2_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCTCTGCTCATTTGTAAAA 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3055,0.6945 false false 1 false true true CD8B:926 false false true true true false false false false false false false false false false false false false false true false false 0 true 0 true false false false SNV 0x050100080305170036000100 1 false 111 rs4514875 87069431 true @@ -259,4 +259,4 @@ SP140L __UNKNOWN__ hg19 2 231222675 231222675 + Missense_Mutation SNP T T C 497 HDAC4 __UNKNOWN__ hg19 2 240084053 240084053 + Intron SNP T T A 3791516 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:240084053T>A ENST00000345617.3 - c.e6-1446A>T AC017028.1_ENST00000396489.1_START_CODON_SNP_p.M1L|HDAC4_ENST00000541256.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTCCTCATCCTGCCCTTT 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9123,0.08766 false false 1 false true false HDAC4:9759 false false true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.927914,0.072086 false false false SNV 0x050100080005150036000100 1 false 107 rs3791516 240084053 true RELN __UNKNOWN__ hg19 7 103629803 103629804 + In_Frame_Ins INS - - GCCGCC 587780434 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:103629803_103629804insGCCGCC ENST00000428762.1 - 1 161 c.0_1insGGCGGC c.(1-3)atg>GGCGGCatg p.0_1insGG RELN_ENST00000343529.5_In_Frame_Ins_p.0_1insGG|RELN_ENST00000424685.2_In_Frame_Ins_p.0_1insGG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCGCTCCATGCCGCCGCCG 0.6975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3958,.,0.6042,.,.,.,.,.,. false false 1 false false false RELN:5649 false false false false true true false false false true false false false false false true true false false false true false 1 false 0 false false false true DIV 0x050068400005140026100204 1 false 136 rs587780434 103629803 true LRGUK __UNKNOWN__ hg19 7 133812122 133812123 + START_CODON_INS INS - - AC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:133812122_133812123insAC ENST00000285928.2 + 1 71 c.2_3insAC LRGUK_ENST00000473068.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAAACAAGATGGCGACCTCC 0.56 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false -ARHGEF5 __UNKNOWN__ hg19 7 144059763 144059764 + START_CODON_INS INS - - TGGAGGCTGAGGAGGCCCAGCG 766185415 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:144059763_144059764insTGGAGGCTGAGGAGGCCCAGCG ENST00000056217.5 + 2 175 c.1_2insTGGAGGCTGAGGAGGCCCAGCG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGCCCTGATGGAGGCTGA 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ARHGEF5:7984 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040002000200 1 false 144 rs766185415 144059763 true +ARHGEF5 __UNKNOWN__ hg19 7 144059763 144059764 + START_CODON_INS INS - - TGGAGGCTGAGGAGGCCCAGCG 766185415 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:144059763_144059764insTGGAGGCTGAGGAGGCCCAGCG ENST00000056217.5 + 2 175 c.1_2insTGGAGGCTGAGGAGGCCCAGCG ARHGEF5_ENST00000471847.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGCCCTGATGGAGGCTGA 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false false false false false false ARHGEF5:7984 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040002000200 1 false 144 rs766185415 144059763 true diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf index d36d8022e1e..b7c922723fe 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSet2_expected.vcf @@ -1,6 +1,6 @@ ##fileformat=VCFv4.2 ##Funcotator Version=0.0.5 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 -##GATKCommandLine= +##GATKCommandLine= ##INFO= ##contig= ##contig= @@ -91,11 +91,11 @@ ##reference=/cromwell_root/broad-references/hg19/v0/Homo_sapiens_assembly19.fasta ##source=Funcotator #CHROM POS ID REF ALT QUAL FILTER INFO -chr1 10146 rs375931351 AC A 168.97 PASS FUNCOTATION=[Unknown||chr1|10147|10147|IGR||DEL|C|C|-|g.chr1:10147delC|no_transcript|||||||0.4463840399002494|CTAACCCTAACCCCTAACCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 10390 . CCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA C 23.94 PASS FUNCOTATION=[Unknown||chr1|10391|10433|IGR||DEL|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|-|g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|no_transcript|||||||0.5801354401805869|TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 10397 . C CCCCTAACCCTAA 113.60 PASS FUNCOTATION=[Unknown||chr1|10397|10398|IGR||INS|-|-|CCCTAACCCTAA|g.chr1:10397_10398insCCCTAACCCTAA|no_transcript|||||||0.575|AACCCCTAACCCCTAACCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 10492 . C T 13.30 PASS FUNCOTATION=[Unknown||chr1|10492|10492|IGR||SNP|C|C|T|g.chr1:10492C>T|no_transcript|||||||0.6408977556109726|GCCGGCCCGCCCGCCCGGGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 10719 . G C 14.26 PASS FUNCOTATION=[Unknown||chr1|10719|10719|IGR||SNP|G|G|C|g.chr1:10719G>C|no_transcript|||||||0.7630922693266833|GCAGAGAGGCGCGCCGCGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10146 rs375931351 AC A 168.97 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10147|10147|FIVE_PRIME_FLANK||DEL|C|C|-|g.chr1:10147delC|ENST00000456328.2|+||||||0.4463840399002494|CTAACCCTAACCCCTAACCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10390 . CCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA C 23.94 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10391|10433|FIVE_PRIME_FLANK||DEL|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|-|g.chr1:10391_10433delCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA|ENST00000456328.2|+||||||0.5801354401805869|TAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10397 . C CCCCTAACCCTAA 113.60 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10397|10398|FIVE_PRIME_FLANK||INS|-|-|CCCTAACCCTAA|g.chr1:10397_10398insCCCTAACCCTAA|ENST00000456328.2|+||||||0.575|AACCCCTAACCCCTAACCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10492 . C T 13.30 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10492|10492|FIVE_PRIME_FLANK||SNP|C|C|T|g.chr1:10492C>T|ENST00000456328.2|+||||||0.6408977556109726|GCCGGCCCGCCCGCCCGGGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] +chr1 10719 . G C 14.26 PASS FUNCOTATION=[DDX11L1|hg19|chr1|10719|10719|FIVE_PRIME_FLANK||SNP|G|G|C|g.chr1:10719G>C|ENST00000456328.2|+||||||0.7630922693266833|GCAGAGAGGCGCGCCGCGCCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12719 . G C 38.95 PASS FUNCOTATION=[DDX11L1|hg19|chr1|12719|12719|SPLICE_SITE|INTRON|SNP|G|G|C|g.chr1:12719G>C|ENST00000456328.2|+|||c.e2-2G>C|c.e2+2||0.6159600997506235|CAGTGTTGCAGAGGTGAGAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 12807 . C T 37.53 PASS FUNCOTATION=[DDX11L1|hg19|chr1|12807|12807|RNA||SNP|C|C|T|g.chr1:12807C>T|ENST00000456328.2|+|||c.e2+86C>T|||0.6059850374064838|GGAGAGGCTTCGATGCCCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|62635285|12807|false|false|0|false|0|false||false|false|false|SNV|false|0x050000080005000002000100|1|false|129|rs62635285] chr1 13079 . C G 384.64 PASS FUNCOTATION=[DDX11L1|hg19|chr1|13079|13079|RNA||SNP|C|C|G|g.chr1:13079C>G|ENST00000456328.2|+|||c.e3-142C>G|||0.5860349127182045|CCAGCTGGGTCGACAGACAGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|DDX11L1:100287102|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|78890234|13079|false|false|0|false|0|false||false|false|false|SNV|true|0x050000080005040102000100|1|false|131|rs78890234] @@ -145,39 +145,39 @@ chr1 881627 rs2272757 G A 2159.94 PASS FUNCOTATION=[NOC2L|hg19|chr1|881627|88162 chr1 887801 rs3828047 A G 3243.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|887801|887801|SILENT||SNP|A|A|G|g.chr1:887801A>G|ENST00000327044.6|-|10|1232|c.1182T>C|c.(1180-1182)acT>acC|p.T394T|0.6334164588528678|CCTTCTTGCGAGTGGTCATGG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.07768_%2C_0.9223_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|3828047|887801|false|false|0|true|0|true|0.067381_%2C_0.932619_%2C_.|false|false|false|SNV|true|0x05010000030515053e000100|1|false|107|rs3828047] chr1 888639 rs3748596 T C 3467.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|888639|888639|SILENT||SNP|T|T|C|g.chr1:888639T>C|ENST00000327044.6|-|9|968|c.918A>G|c.(916-918)gaA>gaG|p.E306E|0.6134663341645885|GCAGAGACTCTTCCCCAGTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.07728_%2C_0.9227_%2C_.|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748596|888639|false|false|0|true|0|true|0.0672093_%2C_0.932791_%2C_.|false|false|false|SNV|true|0x050100000b0515053e000100|1|false|107|rs3748596] chr1 888659 rs3748597 T C 3628.69 PASS FUNCOTATION=[NOC2L|hg19|chr1|888659|888659|MISSENSE||SNP|T|T|C|g.chr1:888659T>C|ENST00000327044.6|-|9|948|c.898A>G|c.(898-900)Atc>Gtc|p.I300V|0.6084788029925187|CTCCATACGATCACCATTCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.07728_%2C_0.9227|false|false|1||false|true|false|NOC2L:26155|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3748597|888659|false|false|0|true|0|false|0.0672093_%2C_0.932791|false|false|false|SNV|true|0x050100000a0515053f000100|1|false|107|rs3748597] -chr1 897325 rs4970441 G C 3379.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|897325|897325|SILENT||SNP|G|G|C|g.chr1:897325G>C|ENST00000338591.3|+|4|716|c.609G>C|c.(607-609)gcG>gcC|p.A203A|0.6483790523690773|TTGCCGATGCGCACTCCTGCA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1408_%2C_0.8592_%2C_.|false|false|1||false|true|false|KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|4970441|897325|true|false|0|true|0|true|0.167354_%2C_0.832646_%2C_.|false|false|false|SNV|true|0x05010002030515053e000100|1|false|111|rs4970441] -chr1 900505 rs28705211 G C 979.12 PASS FUNCOTATION=[KLHL17|hg19|chr1|900505|900505|SILENT||SNP|G|G|C|g.chr1:900505G>C|ENST00000338591.3|+|12|1970|c.1863G>C|c.(1861-1863)gtG>gtC|p.V621V|0.6134663341645885|GTGTGGCGGTGCTGGAGCTGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8313_%2C_0.1687|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|28705211|900505|false|true|0|true|0|true|0.830071_%2C_0.169929|false|false|false|SNV|true|0x050300020305150536000100|1|false|125|rs28705211] -chr1 900717 rs374537094 CTTAT C 2513.94 PASS FUNCOTATION=[KLHL17|hg19|chr1|900718|900721|THREE_PRIME_UTR||DEL|TTAT|TTAT|-|g.chr1:900718_900721delTTAT|ENST00000338591.3|+|12|||||0.6014851485148515|GTTATTTATCTTATTTATTGAGGG|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|PLEKHN1:84069_%7C_KLHL17:339451_%7C_PLEKHN1:84069_%7C_KLHL17:339451|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.619651_%2C_0.380349_%7C_|false_%7C_false|false_%7C_false|0.6294_%2C_0.3706_%7C_0.6294_%2C_0.3706|142545439_%7C_374537094|false_%7C_false|false_%7C_false|0x05000082000515003e000200_%7C_0x050000820005000002000200|false_%7C_false|false_%7C_false|900718_%7C_900723|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs142545439_%7C_rs374537094|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] -chr1 900730 rs3935066 G A 4418.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900730|900730|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:900730G>A|ENST00000338591.3|+|12|||||0.6059850374064838|ATTTATTGAGGGGTGAGGAGT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3526_%2C_0.6474|false|false|1||false|true|true|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3935066|900730|true|false|0|true|0|false|0.383405_%2C_0.616595|false|true|false|SNV|true|0x05010082000517052f000100|1|false|108|rs3935066] -chr1 900972 rs9697711 T G 3993.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900972|900972|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:900972T>G|ENST00000338591.3|+|12|||||0.628428927680798|TGGGGAGCAGTTGTCCTTCCT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.06989_%2C_._%2C_0.9301|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|9697711|900972|false|false|0|true|0|false|0.0587952_%2C_._%2C_0.941205|false|true|false|SNV|true|0x05010082000515053e000100|1|false|119|rs9697711] -chr1 901023 rs13303351 T C 3583.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|901023|901023|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:901023T>C|ENST00000338591.3|+|12|||||0.6209476309226932|GATCTTGTAGTGGGTGCACAC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1134_%2C_0.8866|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303351|901023|false|false|0|true|0|false|0.121265_%2C_0.878735|false|true|false|SNV|true|0x05010082000515053e000100|1|false|121|rs13303351] +chr1 897325 rs4970441 G C 3379.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|897325|897325|SILENT||SNP|G|G|C|g.chr1:897325G>C|ENST00000338591.3|+|4|716|c.609G>C|c.(607-609)gcG>gcC|p.A203A|0.6483790523690773|TTGCCGATGCGCACTCCTGCA|NOC2L_ENST00000327044.6_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK/NOC2L_ENST00000487214.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1408_%2C_0.8592_%2C_.|false|false|1||false|true|false|KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|4970441|897325|true|false|0|true|0|true|0.167354_%2C_0.832646_%2C_.|false|false|false|SNV|true|0x05010002030515053e000100|1|false|111|rs4970441] +chr1 900505 rs28705211 G C 979.12 PASS FUNCOTATION=[KLHL17|hg19|chr1|900505|900505|SILENT||SNP|G|G|C|g.chr1:900505G>C|ENST00000338591.3|+|12|1970|c.1863G>C|c.(1861-1863)gtG>gtC|p.V621V|0.6134663341645885|GTGTGGCGGTGCTGGAGCTGC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8313_%2C_0.1687|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|true|28705211|900505|false|true|0|true|0|true|0.830071_%2C_0.169929|false|false|false|SNV|true|0x050300020305150536000100|1|false|125|rs28705211] +chr1 900717 rs374537094 CTTAT C 2513.94 PASS FUNCOTATION=[KLHL17|hg19|chr1|900718|900721|THREE_PRIME_UTR||DEL|TTAT|TTAT|-|g.chr1:900718_900721delTTAT|ENST00000338591.3|+|12|||||0.6014851485148515|GTTATTTATCTTATTTATTGAGGG|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|PLEKHN1:84069_%7C_KLHL17:339451_%7C_PLEKHN1:84069_%7C_KLHL17:339451|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.619651_%2C_0.380349_%7C_|false_%7C_false|false_%7C_false|0.6294_%2C_0.3706_%7C_0.6294_%2C_0.3706|142545439_%7C_374537094|false_%7C_false|false_%7C_false|0x05000082000515003e000200_%7C_0x050000820005000002000200|false_%7C_false|false_%7C_false|900718_%7C_900723|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs142545439_%7C_rs374537094|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] +chr1 900730 rs3935066 G A 4418.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900730|900730|THREE_PRIME_UTR||SNP|G|G|A|g.chr1:900730G>A|ENST00000338591.3|+|12|||||0.6059850374064838|ATTTATTGAGGGGTGAGGAGT|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3526_%2C_0.6474|false|false|1||false|true|true|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3935066|900730|true|false|0|true|0|false|0.383405_%2C_0.616595|false|true|false|SNV|true|0x05010082000517052f000100|1|false|108|rs3935066] +chr1 900972 rs9697711 T G 3993.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|900972|900972|THREE_PRIME_UTR||SNP|T|T|G|g.chr1:900972T>G|ENST00000338591.3|+|12|||||0.628428927680798|TGGGGAGCAGTTGTCCTTCCT|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.06989_%2C_._%2C_0.9301|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|9697711|900972|false|false|0|true|0|false|0.0587952_%2C_._%2C_0.941205|false|true|false|SNV|true|0x05010082000515053e000100|1|false|119|rs9697711] +chr1 901023 rs13303351 T C 3583.69 PASS FUNCOTATION=[KLHL17|hg19|chr1|901023|901023|THREE_PRIME_UTR||SNP|T|T|C|g.chr1:901023T>C|ENST00000338591.3|+|12|||||0.6209476309226932|GATCTTGTAGTGGGTGCACAC|PLEKHN1_ENST00000379407.3_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379409.2_FIVE_PRIME_FLANK/PLEKHN1_ENST00000379410.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1134_%2C_0.8866|false|false|1||false|true|false|PLEKHN1:84069_%7C_KLHL17:339451|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|13303351|901023|false|false|0|true|0|false|0.121265_%2C_0.878735|false|true|false|SNV|true|0x05010082000515053e000100|1|false|121|rs13303351] chr1 906272 rs28507236 A C 529.25 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|906272|906272|SILENT||SNP|A|A|C|g.chr1:906272A>C|ENST00000379410.3|+|6|533|c.498A>C|c.(496-498)gcA>gcC|p.A166A|0.7007481296758105|CACTGCCCGCACCCCTCCTGG|PLEKHN1_ENST00000379407.3_SILENT_p.A166A/PLEKHN1_ENST00000379409.2_SILENT_p.A206A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8199_%2C_0.1801|false|false|1||false|true|false|PLEKHN1:84069|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|28507236|906272|false|false|0|true|0|true|0.850436_%2C_0.149564|false|false|false|SNV|true|0x05010000030515013e000100|1|false|125|rs28507236] chr1 909238 rs3829740 G C 3368.89 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909238|909238|MISSENSE||SNP|G|G|C|g.chr1:909238G>C|ENST00000379410.3|+|14|1495|c.1460G>C|c.(1459-1461)cGt>cCt|p.R487P|0.6758104738154613|CAGAGTGCACGTGGACCCACG|PLEKHN1_ENST00000379407.3_MISSENSE_p.R452P/PLEKHN1_ENST00000379409.2_MISSENSE_p.R539P|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2234_%2C_0.7766|false|false|1||false|true|true|PLEKHN1:84069|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|3829740|909238|true|false|0|true|0|false|0.307061_%2C_0.692939|false|false|false|SNV|true|0x050100000a0517053e000100|1|false|107|rs3829740] chr1 909242 rs3829739 A G 804.25 PASS FUNCOTATION=[PLEKHN1|hg19|chr1|909242|909242|SILENT||SNP|A|A|G|g.chr1:909242A>G|ENST00000379410.3|+|14|1499|c.1464A>G|c.(1462-1464)ggA>ggG|p.G488G|0.6783042394014963|GTGCACGTGGACCCACGCCCT|PLEKHN1_ENST00000379407.3_SILENT_p.G453G/PLEKHN1_ENST00000379409.2_SILENT_p.G540G|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8682_%2C_0.1318|false|false|1||false|true|false|PLEKHN1:84069|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|3829739|909242|true|false|0|true|0|true|0.879456_%2C_0.120544|false|false|false|SNV|true|0x05010000030515013e000100|1|false|107|rs3829739] chr1 911595 rs7417106 A G 2958.89 PASS FUNCOTATION=[C1orf170|hg19|chr1|911595|911595|MISSENSE||SNP|A|A|G|g.chr1:911595A>G|ENST00000341290.2|-|5|2024|c.1988T>C|c.(1987-1989)gTg>gCg|p.V663A|0.7082294264339152|CCCTTGCCCCACCTGCCGGCG|C1orf170_ENST00000433179.2_MISSENSE_p.V683A|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2897_%2C_0.7103|false|false|1||false|true|false|PERM1:84808|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|7417106|911595|false|false|0|true|0|false|0.349818_%2C_0.650182|false|false|false|SNV|true|0x050100000a0515053e000100|1|false|116|rs7417106] chr1 914333 rs13302979 C G 3769.69 PASS FUNCOTATION=[C1orf170|hg19|chr1|914333|914333|MISSENSE||SNP|C|C|G|g.chr1:914333C>G|ENST00000341290.2|-|3|1771|c.1735G>C|c.(1735-1737)Gag>Cag|p.E579Q|0.7032418952618454|CCCGCCCCCTCGGAGGCCGAC|C1orf170_ENST00000433179.2_MISSENSE_p.E599Q|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.4437_%2C_0.5563|false|false|1||false|true|true|PERM1:84808|true|false|false|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|13302979|914333|false|false|0|true|0|false|0.526547_%2C_0.473453|false|false|false|SNV|true|0x050100000a0517013e000100|1|false|121|rs13302979] -chr1 935459 rs3128113 A G 2299.94 PASS FUNCOTATION=[HES4|hg19|chr1|935459|935459|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:935459A>G|ENST00000304952.6|-|1|||||0.770573566084788|CCTAGGGCGGATCCCGGCTCC|HES4_ENST00000428771.2_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128113|935459|false|false|0|true|0|false|0.394773_%2C_0.605227|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3128113] -chr1 935492 rs3121571 G T 2300.94 PASS FUNCOTATION=[HES4|hg19|chr1|935492|935492|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:935492G>T|ENST00000428771.2|-|1|||||0.773067331670823|GCCTCAGGCCGTTTCCCTATT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3121571|935492|true|false|0|true|0|false|0.395597_%2C_0.604403|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3121571] +chr1 935459 rs3128113 A G 2299.94 PASS FUNCOTATION=[HES4|hg19|chr1|935459|935459|FIVE_PRIME_UTR||SNP|A|A|G|g.chr1:935459A>G|ENST00000304952.6|-|1|||||0.770573566084788|CCTAGGGCGGATCCCGGCTCC|HES4_ENST00000428771.2_FIVE_PRIME_UTR/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3128113|935459|false|false|0|true|0|false|0.394773_%2C_0.605227|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3128113] +chr1 935492 rs3121571 G T 2300.94 PASS FUNCOTATION=[HES4|hg19|chr1|935492|935492|FIVE_PRIME_UTR||SNP|G|G|T|g.chr1:935492G>T|ENST00000428771.2|-|1|||||0.773067331670823|GCCTCAGGCCGTTTCCCTATT|HES4_ENST00000304952.6_FIVE_PRIME_FLANK/HES4_ENST00000484667.2_FIVE_PRIME_FLANK/RP11-54O7.17_ENST00000606034.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3229_%2C_0.6771|false|false|1||false|true|true|HES4:57801|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3121571|935492|true|false|0|true|0|false|0.395597_%2C_0.604403|false|false|true|SNV|true|0x050100400005170136000100|1|false|103|rs3121571] chr1 948846 rs3841266 T TA 4675.73 PASS FUNCOTATION=[ISG15|hg19|chr1|948846|948847|FIVE_PRIME_UTR||INS|-|-|A|g.chr1:948846_948847insA|ENST00000379389.4|+|1|||||0.6225|CCTCAGGCTTATAATAGGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1456_%2C_0.8544|false|false|1||false|true|false|ISG15:9636|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3841266|948846|true|false|0|true|0|false||false|false|false|DIV|true|0x05010002000515013e000200|1|false|107|rs3841266] chr1 948870 rs4615788 C G 4296.69 PASS FUNCOTATION=[ISG15|hg19|chr1|948870|948870|FIVE_PRIME_UTR||SNP|C|C|G|g.chr1:948870C>G|ENST00000379389.4|+|1|||||0.6184538653366584|TGCTGCCTGCCGAAGCCGGCG||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.09704_%2C_0.903|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4615788|948870|false|false|0|true|0|false|0.139021_%2C_0.860979|false|false|true|SNV|true|0x05010040000515053e000100|1|false|111|rs4615788] chr1 948921 rs15842 T C 3295.69 PASS FUNCOTATION=[ISG15|hg19|chr1|948921|948921|FIVE_PRIME_UTR||SNP|T|T|C|g.chr1:948921T>C|ENST00000379389.4|+|1|||||0.6134663341645885|TACAGGAGCTTGTGCCGTGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.09685_%2C_0.9032_%2C_.|false|false|1||false|true|false|ISG15:9636|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|15842|948921|true|false|0|true|0|false|0.138608_%2C_0.861392_%2C_.|false|false|true|SNV|true|0x05012840000515053f000100|1|false|52|rs15842] chr1 1009478 rs9442367 G C 2779.69 PASS FUNCOTATION=[RNF223|hg19|chr1|1009478|1009478|FIVE_PRIME_UTR||SNP|G|G|C|g.chr1:1009478G>C|ENST00000453464.2|-|1|||||0.6932668329177057|CTGCCCTGCCGTGGCAGTGTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1867_%2C_0.8133|false|false|1||false|true|true|RNF223:401934|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|9442367|1009478|false|false|0|true|0|false|0.224466_%2C_0.775534|false|false|true|SNV|true|0x05010040000517013e000100|1|false|119|rs9442367] chr1 1027070 rs11260590 G A 184.25 PASS FUNCOTATION=[C1orf159|hg19|chr1|1027070|1027070|INTRON||SNP|G|G|A|g.chr1:1027070G>A|ENST00000379339.1|-|||c.e4+125C>T|||0.6708229426433915|GGAGGGCAGAGCCAAATGGAG|C1orf159_ENST00000421241.2_INTRON/C1orf159_ENST00000379319.1_INTRON/C1orf159_ENST00000379320.1_FIVE_PRIME_UTR/C1orf159_ENST00000448924.1_INTRON/C1orf159_ENST00000294576.5_INTRON/C1orf159_ENST00000437760.1_INTRON/C1orf159_ENST00000482816.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8105_%2C_0.1895|false|false|1||false|true|true|C1orf159:54991|true|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|11260590|1027070|false|false|0|true|0|false|0.785597_%2C_0.214403|false|false|false|SNV|true|0x050100080005170136000100|1|false|120|rs11260590] -chr1 1260009 . A AC 290.29 PASS FUNCOTATION=[CPSF3L|hg19|chr1|1260009|1260010|FIVE_PRIME_UTR||INS|-|-|C|g.chr1:1260009_1260010insC|ENST00000435064.1|-|1|||||0.7625|CGCTCCCGGACCCGCGAGGC|CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000450926.2_FIVE_PRIME_UTR/CPSF3L_ENST00000411962.1_FIVE_PRIME_UTR/CPSF3L_ENST00000419704.1_FIVE_PRIME_UTR/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|575875502|1260009|false|false|0|false|0|false|0.991243_%2C_0.00875747|false|false|true|DIV|true|0x050000420005040002000200|1|false|142|rs575875502] -chr1 1260168 rs61766199 C A 1816.69 PASS FUNCOTATION=[GLTPD1|hg19|chr1|1260168|1260168|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:1260168C>A|ENST00000343938.4|+|1|||||0.7605985037406484|GAGGGCGGGGCGGTGGGCGGG|GLTPD1_ENST00000464957.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2911_%2C_0.7089|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|61766199|1260168|false|false|0|true|0|false|0.328697_%2C_0.671303|false|false|true|SNV|true|0x050100420005170136000100|1|false|129|rs61766199] +chr1 1260009 . A AC 290.29 PASS FUNCOTATION=[CPSF3L|hg19|chr1|1260009|1260010|FIVE_PRIME_UTR||INS|-|-|C|g.chr1:1260009_1260010insC|ENST00000435064.1|-|1|||||0.7625|CGCTCCCGGACCCGCGAGGC|CPSF3L_ENST00000421495.2_FIVE_PRIME_UTR/CPSF3L_ENST00000450926.2_FIVE_PRIME_UTR/CPSF3L_ENST00000411962.1_FIVE_PRIME_UTR/CPSF3L_ENST00000419704.1_FIVE_PRIME_UTR/CPSF3L_ENST00000545578.1_FIVE_PRIME_UTR/GLTPD1_ENST00000343938.4_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|575875502|1260009|false|false|0|false|0|false|0.991243_%2C_0.00875747|false|false|true|DIV|true|0x050000420005040002000200|1|false|142|rs575875502] +chr1 1260168 rs61766199 C A 1816.69 PASS FUNCOTATION=[GLTPD1|hg19|chr1|1260168|1260168|FIVE_PRIME_UTR||SNP|C|C|A|g.chr1:1260168C>A|ENST00000343938.4|+|1|||||0.7605985037406484|GAGGGCGGGGCGGTGGGCGGG|CPSF3L_ENST00000411962.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000419704.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000421495.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000435064.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000450926.2_FIVE_PRIME_FLANK/CPSF3L_ENST00000540437.1_FIVE_PRIME_FLANK/CPSF3L_ENST00000545578.1_FIVE_PRIME_FLANK/GLTPD1_ENST00000464957.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2911_%2C_0.7089|false|false|1||false|true|true|CPTP:80772_%7C_CPSF3L:54973_%7C_GLTPD1:80772|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|61766199|1260168|false|false|0|true|0|false|0.328697_%2C_0.671303|false|false|true|SNV|true|0x050100420005170136000100|1|false|129|rs61766199] chr1 1284490 rs150789461 G A 3031.69 PASS FUNCOTATION=[DVL1|hg19|chr1|1284490|1284490|FIVE_PRIME_UTR||SNP|G|G|A|g.chr1:1284490G>A|ENST00000378888.5|-|1|||||0.7805486284289277|GCCCGGCCCGGGGCTCGGACG|DVL1_ENST00000378891.5_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.237_%2C_0.763|false|false|1||false|true|true|LOC101929103:101929103_%7C_DVL1:1855|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|150789461|1284490|false|false|0|true|0|false|0.238048_%2C_0.761952|false|false|true|SNV|true|0x050100440005170036000100|1|false|134|rs150789461] chr1 1558792 rs12755088 T C 3564.69 PASS FUNCOTATION=[MIB2|hg19|chr1|1558792|1558792|MISSENSE||SNP|T|T|C|g.chr1:1558792T>C|ENST00000505820.2|+|3|322|c.305T>C|c.(304-306)aTg>aCg|p.M102T|0.7281795511221946|CGGCCCACCATGGACCCCTCT|MIB2_ENST00000520777.1_MISSENSE_p.M102T/MIB2_ENST00000504599.1_START_CODON_SNP_p.M1T/MIB2_ENST00000355826.5_INTRON/MIB2_ENST00000378708.1_INTRON/MIB2_ENST00000518681.1_MISSENSE_p.M102T/MIB2_ENST00000378712.1_INTRON/MIB2_ENST00000357210.4_MISSENSE_p.M45T/MIB2_ENST00000360522.4_MISSENSE_p.M45T/MIB2_ENST00000378710.3_MISSENSE_p.M45T/MIB2_ENST00000512004.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2264_%2C_0.7736_%2C_.|false|false|1||false|true|false|MIB2:142678|true|true|true|true|true|false|false|false|false|false|false|true|false|false|false|false|false|false|false|true|12755088|1558792|false|false|0|true|0|false||false|false|false|SNV|true|0x050100080a0515053e000100|1|false|121|rs12755088] -chr1 1640294 rs199942750 TTCCTCCTCC T 679.91 PASS FUNCOTATION=[CDK11A|hg19|chr1|1640295|1640303|IN_FRAME_DEL||DEL|TCCTCCTCC|TCCTCCTCC|-|g.chr1:1640295_1640303delTCCTCCTCC|ENST00000358779.5|-|9|992_1000|c.903_911delGGAGGAGGA|c.(901-912)gaggaggaggaa>gaa|p.EEE302del|0.5794621026894865|CTCTTCCTCTTCCTCCTCCTCCTCCTCTG|CDK11A_ENST00000356200.3_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378633.1_IN_FRAME_DEL_p.EEE315del/CDK11A_ENST00000404249.3_IN_FRAME_DEL_p.EEE312del/CDK11A_ENST00000357760.2_IN_FRAME_DEL_p.EEE311del/CDK11A_ENST00000378638.2_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378635.3_THREE_PRIME_UTR/RP1-283E3.8_ENST00000598846.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CDK11A:728642|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|199942750|1640295|false|false|0|false|0|false||false|false|false|DIV|false|0x05000000000500001e000200|1|false|137|rs199942750] +chr1 1640294 rs199942750 TTCCTCCTCC T 679.91 PASS FUNCOTATION=[CDK11A|hg19|chr1|1640295|1640303|IN_FRAME_DEL||DEL|TCCTCCTCC|TCCTCCTCC|-|g.chr1:1640295_1640303delTCCTCCTCC|ENST00000358779.5|-|9|992_1000|c.903_911delGGAGGAGGA|c.(901-912)gaggaggaggaa>gaa|p.EEE302del|0.5794621026894865|CTCTTCCTCTTCCTCCTCCTCCTCCTCTG|CDK11A_ENST00000356200.3_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378633.1_IN_FRAME_DEL_p.EEE315del/CDK11A_ENST00000404249.3_IN_FRAME_DEL_p.EEE312del/CDK11A_ENST00000357760.2_IN_FRAME_DEL_p.EEE311del/CDK11A_ENST00000378638.2_IN_FRAME_DEL_p.EEE278del/CDK11A_ENST00000378635.3_THREE_PRIME_UTR/CDK11A_ENST00000495016.1_FIVE_PRIME_FLANK/RP1-283E3.8_ENST00000598846.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|CDK11A:728642|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|199942750|1640295|false|false|0|false|0|false||false|false|false|DIV|false|0x05000000000500001e000200|1|false|137|rs199942750] chr1 1684347 rs150880809 C CCCT 1136.16 PASS FUNCOTATION=[NADK|hg19|chr1|1684347|1684348|IN_FRAME_INS||INS|-|-|CCT|g.chr1:1684347_1684348insCCT|ENST00000344463.4|-|14|1994|c.1771_1772insAGG|c.(1771-1773)ggc>gAGGgc|p.590_591insE|0.5825|TTGACCTAGCCCTCCTCCTC|NADK_ENST00000378625.1_IN_FRAME_INS_p.590_591insE/NADK_ENST00000341426.5_IN_FRAME_INS_p.445_446insE/NADK_ENST00000341991.3_IN_FRAME_INS_p.445_446insE/NADK_ENST00000342348.5_IN_FRAME_INS_p.413_414insE||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|134_%7C_130_%7C_144|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|NADK:65220_%7C_NADK:65220_%7C_NADK:65220|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|150880809_%7C_71578334_%7C_765479702|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x05000000000504000e000204_%7C_0x050100000005000102000200_%7C_0x050000000005000002000200|false_%7C_false_%7C_false|true_%7C_false_%7C_false|1684347_%7C_1684349_%7C_1684350|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_true_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_false|rs150880809_%7C_rs71578334_%7C_rs765479702|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_false] -chr1 1850627 . CAGCGGCAGG C 711.12 PASS FUNCOTATION=[TMEM52|hg19|chr1|1850628|1850636|IN_FRAME_DEL||DEL|AGCGGCAGG|AGCGGCAGG|-|g.chr1:1850628_1850636delAGCGGCAGG|ENST00000310991.3|-|1|86_94|c.69_77delCCTGCCGCT|c.(67-78)ctcctgccgctg>ctg|p.LPL24del|0.7481662591687042|CACCTGCGGCAGCGGCAGGAGCGGCAGGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.641_%2C_0.359|false|false|1||false|true|true|TMEM52:339456|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|575852588|1850628|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005170026000200|1|false|142|rs575852588] +chr1 1850627 . CAGCGGCAGG C 711.12 PASS FUNCOTATION=[TMEM52|hg19|chr1|1850628|1850636|IN_FRAME_DEL||DEL|AGCGGCAGG|AGCGGCAGG|-|g.chr1:1850628_1850636delAGCGGCAGG|ENST00000310991.3|-|1|86_94|c.69_77delCCTGCCGCT|c.(67-78)ctcctgccgctg>ctg|p.LPL24del|0.7481662591687042|CACCTGCGGCAGCGGCAGGAGCGGCAGGA|TMEM52_ENST00000378602.3_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.641_%2C_0.359|false|false|1||false|true|true|TMEM52:339456|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|575852588|1850628|false|false|0|false|0|false||false|false|false|DIV|true|0x050000000005170026000200|1|false|142|rs575852588] chr1 2258590 rs149761185 A AACAC 660.88 PASS FUNCOTATION=[MORN1|hg19|chr1|2258590|2258591|INTRON||INS|-|-|ACAC|g.chr1:2258590_2258591insACAC|ENST00000378531.3|-|||c.e13+3008T>GTGTT|||0.4275|AGACACAGAAACAGAAACAC|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R5fs||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|134_%7C_129|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MORN1:79906_%7C_MORN1:79906|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.2077_%2C_0.7921_%7C_0.2077_%2C_0.7921|149761185_%7C_61135926|false_%7C_false|false_%7C_false|0x05000008000517002e000200_%7C_0x050000080005000002000200|true_%7C_false|false_%7C_false|2258590_%7C_2258593|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs149761185_%7C_rs61135926|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 2258626 rs144331124 CAG C 138.25 PASS FUNCOTATION=[MORN1|hg19|chr1|2258627|2258628|INTRON||DEL|AG|AG|-|g.chr1:2258627_2258628delAG|ENST00000378531.3|-|||c.e13+3044CTG>G|||0.39800995024875624|ACAGAGACACAGAGACACAGAA|AL589739.1_ENST00000600779.1_FRAME_SHIFT_DEL_p.R17fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8407_%2C_0.1593|false|false|1||false|true|false|MORN1:79906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|144331124|2258627|false|false|0|false|0|false||false|false|false|DIV|true|0x05000008000515003e000200|1|false|134|rs144331124] chr1 2258946 rs59142249 C CA 326.29 PASS FUNCOTATION=[MORN1|hg19|chr1|2258946|2258947|INTRON||INS|-|-|A|g.chr1:2258946_2258947insA|ENST00000378531.3|-|||c.e13+3364G>TG|||0.5075|AAACAAACACAGAGACACAG|AL589739.1_ENST00000600779.1_FRAME_SHIFT_INS_p.R123fs||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|false_%7C_false|138_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MORN1:79906_%7C_MORN1:79906|_%7C_|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.755924_%2C_0.244076_%7C_|false_%7C_false|false_%7C_false|_%7C_|59142249_%7C_397940423|false_%7C_false|false_%7C_false|0x05000008000507001e000200_%7C_0x050000080005000002000200|true_%7C_false|false_%7C_false|2258946_%7C_2258947|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|true_%7C_true|_%7C_|true_%7C_false|rs59142249_%7C_rs397940423|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 2938407 rs4013154 CAGA C 648.25 PASS FUNCOTATION=[ACTRT2|hg19|chr1|2938408|2938410|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:2938408_2938410delAGA|ENST00000378404.2|+|1|362_364|c.158_160delAGA|c.(157-162)cagaag>cag|p.K54del|0.5905707196029777|GAGGCCAACCAGAAGAAGTACTT||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8876_%2C_0.1124|false|false|1||false|true|false|ACTRT2:140625|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|4013154|2938408|true|false|0|false|0|false|0.890652_%2C_0.109348|false|false|false|DIV|true|0x05000000000515003e000200|1|false|108|rs4013154] chr1 6509021 . GCCACCGCCGCCC G 897.25 PASS FUNCOTATION=[ESPN|hg19|chr1|6509022|6509033|IN_FRAME_DEL||DEL|CCACCGCCGCCC|CCACCGCCGCCC|-|g.chr1:6509022_6509033delCCACCGCCGCCC|ENST00000377828.1|+|8|1953_1964|c.1786_1797delCCACCGCCGCCC|c.(1786-1797)ccaccgccgcccdel|p.PPPP596del|0.7718446601941747|CAGGGAGCTGCCACCGCCGCCCCCACCGCCGC|ESPN_ENST00000461727.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000416731.1_IN_FRAME_DEL_p.PPPP30del/ESPN_ENST00000475228.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9984_%2C_0.001597|false|false|0||false|false|false|ESPN:83715|false|false|false|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|548962140|6509022|false|false|0|false|0|false|0.997047_%2C_0.0029535|false|false|false|DIV|true|0x050000000005040026000200|1|false|142|rs548962140] -chr1 7913430 rs228648 G A 1998.91 PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648] +chr1 7913430 rs228648 G A 1998.91 PASS FUNCOTATION=[UTS2|hg19|chr1|7913430|7913430|DE_NOVO_START_IN_FRAME||SNP|G|G|A|g.chr1:7913430G>A|ENST00000377516.2|-|1|||||0.3566084788029925|GCAAAGAGACGTGGATTTATG|UTS2_ENST00000054668.5_MISSENSE_p.T21M/UTS2_ENST00000361696.5_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.5216_%2C_0.4784|false|false|1||false|true|true|UTS2:10911|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|true|true|228648|7913430|false|false|0|true|0|false|0.476578_%2C_0.523422|false|false|false|SNV|true|0x050128020a0517053f000101|1|false|79|rs228648] chr1 11593793 rs113116961 T TGCACACACGCAC 4110.93 PASS FUNCOTATION=[PTCHD2|hg19|chr1|11593793|11593794|INTRON||INS|-|-|GCACACACGCAC|g.chr1:11593793_11593794insGCACACACGCAC|ENST00000294484.6|+|||c.e18-645T>TGCACACACGCAC|||0.5625|AGACACGCATGCACACACAC|PTCHD2_ENST00000304391.6_FIVE_PRIME_UTR/PTCHD2_ENST00000389575.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2478_%2C_0.3878|false|false|1||false|false|false|DISP3:57540_%7C_PTCHD2:57540|true|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113116961|11593793|false|false|0|true|0|false||false|false|false|DIV|true|0x05010008000514012e000200|1|false|132|rs113116961] -chr1 11710779 rs148874459 C CGCG 492.29 PASS FUNCOTATION=[FBXO2|hg19|chr1|11710779|11710780|IN_FRAME_INS||INS|-|-|GCG|g.chr1:11710779_11710780insGCG|ENST00000354287.4|-|2|477|c.134_135insCGC|c.(133-135)gcg>gcCGCg|p.45_46insA|0.7275|GTCCAGGTACGCGGCGGCGG|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|134_%7C_142|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|FBXO2:26232_%7C_FBXO2:26232|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.6534_%2C_0.3103_%7C_0.6534_%2C_0.3103|148874459_%7C_538764329|false_%7C_false|false_%7C_false|0x05000000000504000e000200_%7C_0x050000000005170024000200|false_%7C_true|false_%7C_false|11710779_%7C_11710782|0_%7C_0|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_true|rs148874459_%7C_rs538764329|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] +chr1 11710779 rs148874459 C CGCG 492.29 PASS FUNCOTATION=[FBXO2|hg19|chr1|11710779|11710780|IN_FRAME_INS||INS|-|-|GCG|g.chr1:11710779_11710780insGCG|ENST00000354287.4|-|2|477|c.134_135insCGC|c.(133-135)gcg>gcCGCg|p.45_46insA|0.7275|GTCCAGGTACGCGGCGGCGG|FBXO44_ENST00000251546.4_FIVE_PRIME_FLANK/FBXO44_ENST00000251547.5_FIVE_PRIME_FLANK/FBXO44_ENST00000376760.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376762.4_FIVE_PRIME_FLANK/FBXO44_ENST00000376768.1_FIVE_PRIME_FLANK/FBXO44_ENST00000376770.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|134_%7C_142|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|FBXO2:26232_%7C_FBXO2:26232|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.6534_%2C_0.3103_%7C_0.6534_%2C_0.3103|148874459_%7C_538764329|false_%7C_false|false_%7C_false|0x05000000000504000e000200_%7C_0x050000000005170024000200|false_%7C_true|false_%7C_false|11710779_%7C_11710782|0_%7C_0|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_true|rs148874459_%7C_rs538764329|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 11844520 rs41275466 C T 492.25 PASS FUNCOTATION=[C1orf167|hg19|chr1|11844520|11844520|NONSENSE||SNP|C|C|T|g.chr1:11844520C>T|ENST00000433342.1|+|15|3367|c.3367C>T|c.(3367-3369)Cag>Tag|p.Q1123*|0.6733167082294265|CCATGAGGCCCAGCAGCAGGC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.988_%2C_0.01198|false|false|1||false|false|false|C1orf167:284498|false|false|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|41275466|11844520|false|false|0|false|0|false|0.984683_%2C_0.015317|false|false|false|SNV|true|0x050000000605140036000100|1|false|127|rs41275466] chr1 11906068 rs5065 A G 569.25 PASS FUNCOTATION=[NPPA|hg19|chr1|11906068|11906068|NONSTOP||SNP|A|A|G|g.chr1:11906068A>G|ENST00000376480.3|-|3|553|c.454T>C|c.(454-456)Tga>Cga|p.*152R|0.4937655860349127|TGTTATCTTCAGTACTGCAAA|NPPA_ENST00000376476.1_NONSTOP_p.*102R/NPPA-AS1_ENST00000446542.1_RNA/NPPA-AS1_ENST00000400892.2_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8209_%2C_0.1791|false|false|1||false|true|false|NPPA:4878_%7C_NPPA-AS1:100379251|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|5065|11906068|false|false|0|true|0|false|0.737688_%2C_0.262312|true|false|false|SNV|true|0x05013808020515053f000100|1|false|52|rs5065] chr1 12980232 rs201674075 G A 447.12 PASS FUNCOTATION=[PRAMEF7|hg19|chr1|12980232|12980232|SILENT||SNP|G|G|A|g.chr1:12980232G>A|ENST00000361079.2|+|4|1507|c.1424G>A|c.(1423-1425)tGa>tAa|p.*475*|0.5411471321695761|TGCCTCTGTTGAATGCCTGCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PRAMEF7:441871|true|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|9328937|12980232|false|false|0|true|0|true||false|false|false|SNV|true|0x050100000305040516000100|1|false|119|rs9328937] @@ -190,7 +190,7 @@ chr1 19408294 rs67232976 G GC 2309.93 PASS FUNCOTATION=[UBR4|hg19|chr1|19408294| chr1 20501582 rs12139100 G A 275.25 PASS FUNCOTATION=[PLA2G2C|hg19|chr1|20501582|20501582|NONSENSE||SNP|G|G|A|g.chr1:20501582G>A|ENST00000429261.2|-|2|158|c.97C>T|c.(97-99)Cga>Tga|p.R33*|0.49875311720698257|AAGGCACTTCGCCCCGTGATG|PLA2G2C_ENST00000247992.5_NONSENSE_p.R36*/PLA2G2C_ENST00000495760.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7598_%2C_0.2402|false|false|1||false|true|true|PLA2G2C:391013|true|true|false|true|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|12139100|20501582|false|false|0|true|0|false|0.791916_%2C_0.208084|false|false|false|SNV|true|0x05010000060517053f000100|1|false|120|rs12139100] chr1 22033385 . GA G 799.10 PASS FUNCOTATION=[USP48|hg19|chr1|22033386|22033386|FRAME_SHIFT_DEL||DEL|A|A|-|g.chr1:22033386delA|ENST00000529637.1|-|16|2010|c.1975delT|c.(1975-1977)tccfs|p.S659fs|0.35910224438902744|ATATATTTGGAAAAAAAAAAA|USP48_ENST00000308271.9_INTRON/USP48_ENST00000374732.3_INTRON/USP48_ENST00000400301.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|USP48:84196|false|false|true|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|532575338|22033386|false|false|0|false|0|false||false|false|false|DIV|true|0x050000081205040002000200|1|false|142|rs532575338] chr1 23280024 . G GCAC 529.29 PASS FUNCOTATION=[LACTBL1|hg19|chr1|23280024|23280025|IN_FRAME_INS||INS|-|-|CAC|g.chr1:23280024_23280025insCAC|ENST00000426928.2|-|6|1153|c.1152_1153insGTG|c.(1150-1155)gtgctg>gtgGTGctg|p.384_385insV|0.765|CCAGCAGCAGCACCAGGCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|LACTBL1:646262|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|764403246|23280024|false|false|0|false|0|false||false|false|false|DIV|false|0x050000000005000002000200|1|false|144|rs764403246] -chr1 23670803 rs12409193 G C 411.95 PASS FUNCOTATION=[HNRNPR|hg19|chr1|23670803|23670803|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr1:23670803G>C|ENST00000374616.3|-|1|||||0.683291770573566|TCCCCCCCCTGATGGACTGAG|HNRNPR_ENST00000374612.1_DE_NOVO_START_IN_FRAME/HNRNPR_ENST00000478691.1_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6534_%2C_0.3466|false|false|1||false|true|true|HNRNPR:10236|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12409193|23670803|false|false|0|true|0|false|0.645099_%2C_0.354901|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12409193] +chr1 23670803 rs12409193 G C 411.95 PASS FUNCOTATION=[HNRNPR|hg19|chr1|23670803|23670803|DE_NOVO_START_IN_FRAME||SNP|G|G|C|g.chr1:23670803G>C|ENST00000374616.3|-|1|||||0.683291770573566|TCCCCCCCCTGATGGACTGAG|HNRNPR_ENST00000374612.1_DE_NOVO_START_IN_FRAME/HNRNPR_ENST00000478691.1_DE_NOVO_START_OUT_FRAME/HNRNPR_ENST00000302271.6_FIVE_PRIME_FLANK/HNRNPR_ENST00000426846.2_FIVE_PRIME_FLANK/HNRNPR_ENST00000427764.2_FIVE_PRIME_FLANK/HNRNPR_ENST00000606561.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6534_%2C_0.3466|false|false|1||false|true|true|HNRNPR:10236|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|12409193|23670803|false|false|0|true|0|false|0.645099_%2C_0.354901|false|false|true|SNV|true|0x05010042000517053e000100|1|false|120|rs12409193] chr1 23966894 rs5773050 T TAAG 583.16 PASS FUNCOTATION=[MDS2|hg19|chr1|23966894|23966895|IN_FRAME_INS||INS|-|-|AAG|g.chr1:23966894_23966895insAAG|ENST00000374555.3|+|7|865|c.278_279insAAG|c.(277-279)gta>gtAAGa|p.93_94insR|0.4525|GTGGCTTTGTAAGAAGAAAA|MDS2_ENST00000477916.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|102_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MDS2:259283_%7C_MDS2:259283|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.7232_%2C_0.2768_%7C_0.7232_%2C_0.2768|3072132_%7C_5773050|false_%7C_false|true_%7C_false|0x05010000000517003e000200_%7C_0x050000000005000002000200|true_%7C_false|false_%7C_false|23966894_%7C_23966902|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3072132_%7C_rs5773050|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 26608825 . TGGGGCCG T 2482.89 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608826|26608832|FRAME_SHIFT_DEL||DEL|GGGGCCG|GGGGCCG|-|g.chr1:26608826_26608832delGGGGCCG|ENST00000374222.1|-|16|1993_1999|c.1521_1527delCGGCCCC|c.(1519-1527)cccggccccfs|p.G508fs|0.7002457002457002|GACAGGGACTGGGGCCGGGACCGGGAC|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.G508fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.G388fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.G475fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.G265fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.G475fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|752317296|26608826|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs752317296] chr1 26608835 . ACCGGGACCGGGACTGGG A 2471.89 PASS FUNCOTATION=[UBXN11|hg19|chr1|26608836|26608852|FRAME_SHIFT_DEL||DEL|CCGGGACCGGGACTGGG|CCGGGACCGGGACTGGG|-|g.chr1:26608836_26608852delCCGGGACCGGGACTGGG|ENST00000374222.1|-|16|1983_1999|c.1501_1517delCCCAGTCCCGGTCCCGG|c.(1501-1518)cccagtcccggtcccggtfs|p.P501fs|0.6954436450839329|GGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCG|UBXN11_ENST00000374221.3_FRAME_SHIFT_DEL_p.P501fs/UBXN11_ENST00000314675.7_FRAME_SHIFT_DEL_p.P381fs/UBXN11_ENST00000357089.4_FRAME_SHIFT_DEL_p.P468fs/UBXN11_ENST00000374223.1_FRAME_SHIFT_DEL_p.P258fs/UBXN11_ENST00000374217.2_FRAME_SHIFT_DEL_p.P468fs|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|UBXN11:91544|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|757094832|26608836|false|false|0|false|0|false||false|false|false|DIV|false|0x050000001205000002000200|1|false|144|rs757094832] @@ -201,9 +201,9 @@ chr1 28800358 . TGAG T 130.68 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800359|28800 chr1 28800364 . T TTAATGATACGG 174.58 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800364|28800365|FRAME_SHIFT_INS||INS|-|-|TAATGATACGG|g.chr1:28800364_28800365insTAATGATACGG|ENST00000373836.3|+|6|1366|c.1152_1153insTAATGATACGG|c.(1153-1155)ccafs|p.P385fs|0.525|AATTGAGTTTCCACCATCCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_INS_p.P375fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 28800370 . AT A 200.53 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800371|28800371|FRAME_SHIFT_DEL||DEL|T|T|-|g.chr1:28800371delT|ENST00000373836.3|+|6|1372|c.1159delT|c.(1159-1161)tccfs|p.S387fs|0.5236907730673317|GTTTCCACCATCCTTAGATCT|PHACTR4_ENST00000373839.3_FRAME_SHIFT_DEL_p.S377fs/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 28800375 . T G 213.53 PASS FUNCOTATION=[PHACTR4|hg19|chr1|28800375|28800375|NONSENSE||SNP|T|T|G|g.chr1:28800375T>G|ENST00000373836.3|+|6|1377|c.1163T>G|c.(1162-1164)tTa>tGa|p.L388*|0.5211970074812967|CCACCATCCTTAGATCTACAC|PHACTR4_ENST00000373839.3_NONSENSE_p.L378*/PHACTR4_ENST00000493669.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr1 31882582 rs4012494 G GGCCTCA 1419.16 PASS FUNCOTATION=[SERINC2|hg19|chr1|31882582|31882583|FIVE_PRIME_UTR||INS|-|-|GCCTCA|g.chr1:31882582_31882583insGCCTCA|ENST00000373710.1|+|1|||||0.5025|ATAAGGGATGGCCCTGCTCT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true_%7C_true|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|108_%7C_130|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SERINC2:347735_%7C_SERINC2:347735|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.4065_%2C_0.5935_%7C_0.4065_%2C_0.5935|4012494_%7C_6143179|false_%7C_false|true_%7C_false|0x05010042000517012e000200_%7C_0x050100420005000102000200|true_%7C_false|false_%7C_false|31882582_%7C_31882585|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|true_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs4012494_%7C_rs6143179|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] +chr1 31882582 rs4012494 G GGCCTCA 1419.16 PASS FUNCOTATION=[SERINC2|hg19|chr1|31882582|31882583|FIVE_PRIME_UTR||INS|-|-|GCCTCA|g.chr1:31882582_31882583insGCCTCA|ENST00000373710.1|+|1|||||0.5025|ATAAGGGATGGCCCTGCTCT|SERINC2_ENST00000373709.3_FIVE_PRIME_FLANK/SERINC2_ENST00000491976.1_FIVE_PRIME_FLANK/SERINC2_ENST00000536384.1_FIVE_PRIME_FLANK/SERINC2_ENST00000536859.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true_%7C_true|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|108_%7C_130|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SERINC2:347735_%7C_SERINC2:347735|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.4065_%2C_0.5935_%7C_0.4065_%2C_0.5935|4012494_%7C_6143179|false_%7C_false|true_%7C_false|0x05010042000517012e000200_%7C_0x050100420005000102000200|true_%7C_false|false_%7C_false|31882582_%7C_31882585|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|true_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs4012494_%7C_rs6143179|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 31905889 rs3050461 A ACAG 3632.73 PASS FUNCOTATION=[SERINC2|hg19|chr1|31905889|31905890|IN_FRAME_INS||INS|-|-|CAG|g.chr1:31905889_31905890insCAG|ENST00000373709.3|+|9|1239|c.1089_1090insCAG|c.(1090-1092)cag>CAGcag|p.363_364insQ|0.6025|AGACGCCACACAGCAGCAGC|SERINC2_ENST00000373710.1_IN_FRAME_INS_p.372_373insQ/SERINC2_ENST00000536384.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000536859.1_IN_FRAME_INS_p.367_368insQ/SERINC2_ENST00000491976.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|102_%7C_126|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SERINC2:347735_%7C_SERINC2:347735|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.261_%2C_0.739_%7C_0.261_%2C_0.739|3050461_%7C_5773362|false_%7C_false|true_%7C_false|0x05010000000517002e000200_%7C_0x050100000005000102000200|true_%7C_false|false_%7C_false|31905889_%7C_31905904|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3050461_%7C_rs5773362|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] -chr1 36184975 rs7521021 G A 3135.69 PASS FUNCOTATION=[C1orf216|hg19|chr1|36184975|36184975|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:36184975G>A|ENST00000270815.4|-|1|||||0.5461346633416458|CCTAGATCACGTTCGTTCCCC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.02416_%2C_0.9758|false|false|1||false|true|false|C1orf216:127703|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|7521021|36184975|false|false|0|true|0|false|0.025929_%2C_0.974071|false|false|false|SNV|true|0x05010002000515053f000100|1|false|116|rs7521021] +chr1 36184975 rs7521021 G A 3135.69 PASS FUNCOTATION=[C1orf216|hg19|chr1|36184975|36184975|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:36184975G>A|ENST00000270815.4|-|1|||||0.5461346633416458|CCTAGATCACGTTCGTTCCCC|C1orf216_ENST00000503824.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.02416_%2C_0.9758|false|false|1||false|true|false|C1orf216:127703|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|7521021|36184975|false|false|0|true|0|false|0.025929_%2C_0.974071|false|false|false|SNV|true|0x05010002000515053f000100|1|false|116|rs7521021] chr1 36643700 rs141305015 GAGA G 909.25 PASS FUNCOTATION=[MAP7D1|hg19|chr1|36643701|36643703|IN_FRAME_DEL||DEL|AGA|AGA|-|g.chr1:36643701_36643703delAGA|ENST00000373151.2|+|9|1822_1824|c.1607_1609delAGA|c.(1606-1611)gagaag>gag|p.K537del|0.6972704714640199|GCCAGTAACGAGAAGGAGTCAGC|MAP7D1_ENST00000373150.4_IN_FRAME_DEL_p.K505del/MAP7D1_ENST00000316156.4_IN_FRAME_DEL_p.K500del/MAP7D1_ENST00000373148.4_IN_FRAME_DEL_p.K83del||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_102|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|MAP7D1:55700_%7C_MAP7D1:55700|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.973178_%2C_0.0268219_%7C_|false_%7C_false|false_%7C_false|0.9355_%2C_0.0645_%7C_0.9355_%2C_0.0645|141305015_%7C_3045695|false_%7C_false|false_%7C_true|0x05000000000515003e000200_%7C_0x050100000005000002000200|false_%7C_false|false_%7C_false|36643701_%7C_36643703|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs141305015_%7C_rs3045695|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 40131838 . T TC 48.29 PASS FUNCOTATION=[NT5C1A|hg19|chr1|40131838|40131839|FRAME_SHIFT_INS||INS|-|-|C|g.chr1:40131838_40131839insC|ENST00000235628.1|-|2|206|c.205_206insG|c.(205-207)cagfs|p.Q69fs|0.565|GTGTAGATCTGCTGCTCCTC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 40131850 . T TA 48.29 PASS FUNCOTATION=[NT5C1A|hg19|chr1|40131850|40131851|FRAME_SHIFT_INS||INS|-|-|A|g.chr1:40131850_40131851insA|ENST00000235628.1|-|2|194|c.193_194insT|c.(193-195)gacfs|p.D65fs|0.555|TGCTCCTCGTCCATGCGAAA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] @@ -216,24 +216,24 @@ chr1 48708228 rs850763 G T 386.25 PASS FUNCOTATION=[SLC5A9|hg19|chr1|48708228|48 chr1 50884773 rs4027495 CCGGCGG C 1244.13 PASS FUNCOTATION=[DMRTA2|hg19|chr1|50884774|50884779|IN_FRAME_DEL||DEL|CGGCGG|CGGCGG|-|g.chr1:50884774_50884779delCGGCGG|ENST00000404795.3|-|3|1586_1591|c.1187_1192delCCGCCG|c.(1186-1194)gccgccggg>ggg|p.AA396del|0.7807881773399015|CCAGGCCCCCCGGCGGCGGCGGCGGC|DMRTA2_ENST00000418121.1_IN_FRAME_DEL_p.AA396del||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|144_%7C_108|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|DMRTA2:63950_%7C_DMRTA2:63950|_%7C_|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|761537995_%7C_4027495|false_%7C_false|false_%7C_false|0x050000000005000002000200_%7C_0x050000000005000002000200|false_%7C_false|false_%7C_false|50884774_%7C_50884792|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|rs761537995_%7C_rs4027495|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 50884775 . G *,GGCA 1910.68 PASS FUNCOTATION=[DMRTA2|hg19|chr1|50884775|50884775|COULD_NOT_DETERMINE||NA|G|G|*||ENST00000404795.3|+||||||0.7805486284289277|CAGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_COULD_NOT_DETERMINE|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||],[DMRTA2|hg19|chr1|50884775|50884776|IN_FRAME_INS||INS|-|-|GCA|g.chr1:50884775_50884776insGCA|ENST00000404795.3|-|3|1584|c.1190_1191insTGC|c.(1189-1191)gcc>gcTGCc|p.397_398insA|0.78|AGGCCCCCCGGCGGCGGCGG|DMRTA2_ENST00000418121.1_IN_FRAME_INS_p.397_398insA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 52306063 rs35723519 ATCT A 1359.12 PASS FUNCOTATION=[NRD1|hg19|chr1|52306064|52306066|IN_FRAME_DEL||DEL|TCT|TCT|-|g.chr1:52306064_52306066delTCT|ENST00000354831.7|-|2|655_657|c.462_464delAGA|c.(460-465)gaagat>gat|p.E154del|0.36476426799007444|TTCATCATCATCTTCTTCTTCTT|NRD1_ENST00000352171.7_IN_FRAME_DEL_p.E154del/NRD1_ENST00000539524.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000544028.1_IN_FRAME_DEL_p.E22del/NRD1_ENST00000485608.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|126_%7C_129|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|NRD1:4898_%7C_NRDC:4898_%7C_NRD1:4898_%7C_NRDC:4898|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.4383_%2C_0.5617_%7C_0.4383_%2C_0.5617|35723519_%7C_60220085|false_%7C_false|false_%7C_false|0x05000000000517003e000200_%7C_0x050100000005000102000200|true_%7C_false|false_%7C_false|52306064_%7C_52306075|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_true|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs35723519_%7C_rs60220085|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] -chr1 53925373 . G GCCGCCC 637.29 PASS FUNCOTATION=[DMRTB1|hg19|chr1|53925373|53925374|IN_FRAME_INS||INS|-|-|CCGCCC|g.chr1:53925373_53925374insCCGCCC|ENST00000371445.3|+|1|302|c.247_248insCCGCCC|c.(247-249)gcc>gCCGCCCcc|p.83_84insAP|0.7475|GCTGCGGCCGCCGCCCCCGC|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|142_%7C_144|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|DMRTB1:63948_%7C_DMRTB1:63948|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.8926_%2C_0.1074_%7C_0.8926_%2C_0.1074|575081928_%7C_766482978|false_%7C_false|false_%7C_false|0x050000000005150026000200_%7C_0x050000000005000002000200|false_%7C_false|false_%7C_false|53925373_%7C_53925379|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs575081928_%7C_rs766482978|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] +chr1 53925373 . G GCCGCCC 637.29 PASS FUNCOTATION=[DMRTB1|hg19|chr1|53925373|53925374|IN_FRAME_INS||INS|-|-|CCGCCC|g.chr1:53925373_53925374insCCGCCC|ENST00000371445.3|+|1|302|c.247_248insCCGCCC|c.(247-249)gcc>gCCGCCCcc|p.83_84insAP|0.7475|GCTGCGGCCGCCGCCCCCGC|DMRTB1_ENST00000463126.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|142_%7C_144|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|DMRTB1:63948_%7C_DMRTB1:63948|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.8926_%2C_0.1074_%7C_0.8926_%2C_0.1074|575081928_%7C_766482978|false_%7C_false|false_%7C_false|0x050000000005150026000200_%7C_0x050000000005000002000200|false_%7C_false|false_%7C_false|53925373_%7C_53925379|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs575081928_%7C_rs766482978|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 55182300 rs1147990 T A 2208.94 PASS FUNCOTATION=[TTC4|hg19|chr1|55182300|55182300|MISSENSE||SNP|T|T|A|g.chr1:55182300T>A|ENST00000371281.3|+|2|226|c.139T>A|c.(139-141)Tcg>Acg|p.S47T|0.3915211970074813|CCTATTTATGTCGAGAGCGCC|TTC4_ENST00000371284.5_INTRON/MROH7-TTC4_ENST00000414150.2_NONSENSE_p.C1282*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3317_%2C_0.6683|false|false|1||false|true|false|TTC4:7268_%7C_MROH7-TTC4:100527960|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|1147990|55182300|true|false|0|true|0|false|0.448314_%2C_0.551686|false|false|false|SNV|true|0x050128000a0515053f000101|1|false|87|rs1147990] -chr1 55505552 rs113330492 A ACTG 1612.14 PASS FUNCOTATION=[PCSK9|hg19|chr1|55505552|55505553|IN_FRAME_INS||INS|-|-|CTG|g.chr1:55505552_55505553insCTG|ENST00000302118.5|+|1|332|c.42_43insCTG|c.(43-45)ctg>CTGctg|p.14_15insL|0.7075|GCCGCTGCCACTGCTGCTGC|PCSK9_ENST00000452118.2_IN_FRAME_INS_p.14_15insL||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|127_%7C_132_%7C_126|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|PCSK9:255738_%7C_PCSK9:255738_%7C_PCSK9:255738|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_true|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|45454392_%7C_113330492_%7C_35574083|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x050000020005070102000200_%7C_0x050100020005000102000200_%7C_0x050168020005040102100200|true_%7C_false_%7C_false|false_%7C_false_%7C_false|55505554_%7C_55505563_%7C_55505575|0_%7C_0_%7C_1|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_true|rs45454392_%7C_rs113330492_%7C_rs35574083|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_true] +chr1 55505552 rs113330492 A ACTG 1612.14 PASS FUNCOTATION=[PCSK9|hg19|chr1|55505552|55505553|IN_FRAME_INS||INS|-|-|CTG|g.chr1:55505552_55505553insCTG|ENST00000302118.5|+|1|332|c.42_43insCTG|c.(43-45)ctg>CTGctg|p.14_15insL|0.7075|GCCGCTGCCACTGCTGCTGC|PCSK9_ENST00000452118.2_IN_FRAME_INS_p.14_15insL/PCSK9_ENST00000543384.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false_%7C_false|false_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|127_%7C_132_%7C_126|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|PCSK9:255738_%7C_PCSK9:255738_%7C_PCSK9:255738|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_true|false_%7C_false_%7C_true|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|45454392_%7C_113330492_%7C_35574083|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x050000020005070102000200_%7C_0x050100020005000102000200_%7C_0x050168020005040102100200|true_%7C_false_%7C_false|false_%7C_false_%7C_false|55505554_%7C_55505563_%7C_55505575|0_%7C_0_%7C_1|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|true_%7C_true_%7C_true|_%7C__%7C_|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|true_%7C_false_%7C_true|rs45454392_%7C_rs113330492_%7C_rs35574083|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_true] chr1 100327026 rs2307129 C T 595.25 PASS FUNCOTATION=[AGL|hg19|chr1|100327026|100327026|INTRON||SNP|C|C|T|g.chr1:100327026C>T|ENST00000294724.4|+|||c.e3-33C>T|||0.32418952618453867|TTAAGTCCTACGATGAGTTTA|AGL_ENST00000361915.3_INTRON/AGL_ENST00000370163.3_INTRON/AGL_ENST00000370165.3_INTRON/AGL_ENST00000361522.4_DE_NOVO_START_IN_FRAME/AGL_ENST00000361302.3_INTRON/AGL_ENST00000370161.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7728_%2C_0.2272|false|false|1||false|true|true|AGL:178|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|2307129|100327026|true|false|0|true|0|false|0.729068_%2C_0.270932|false|false|true|SNV|true|0x05012848000517053f000100|1|false|100|rs2307129] chr1 104293194 . C T 36.34 PASS FUNCOTATION=[AMY1C|hg19|chr1|104293194|104293194|NONSENSE||SNP|C|C|T|g.chr1:104293194C>T|ENST00000370079.3|+|1|167|c.103C>T|c.(103-105)Cga>Tga|p.R35*|0.3740648379052369|GTTTGAATGGCGATGGGTTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|AMY1C:278|false|false|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|938886200|104293194|false|false|0|false|0|false|0.999966_%2C_3.4343e-005|false|false|false|SNV|false|0x050000000605000002000100|1|false|150|rs938886200] chr1 112162775 rs113172457 C T 995.10 PASS FUNCOTATION=[RAP1A|hg19|chr1|112162775|112162775|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:112162775C>T|ENST00000545460.1|+|1|||||0.7206982543640897|GAGCCAACCACGCCCGCGGAC|RAP1A_ENST00000369709.3_INTRON/RAP1A_ENST00000356415.1_INTRON/RAP1A_ENST00000436150.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.8762_%2C_0.1238|false|false|1||false|true|false|RAP1A:5906|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|113172457|112162775|false|false|0|true|0|false|0.89546_%2C_0.10454|false|false|true|SNV|true|0x050100480005150036000100|1|false|132|rs113172457] -chr1 114447565 rs1217397 G A 1432.91 PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397] +chr1 114447565 rs1217397 G A 1432.91 PASS FUNCOTATION=[AP4B1|hg19|chr1|114447565|114447565|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:114447565G>A|ENST00000369569.1|-|1|||||0.6309226932668329|AGGCCCTACCGTCGGCCGGCA|AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME/AP4B1_ENST00000369566.3_FIVE_PRIME_FLANK/AP4B1_ENST00000369567.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6705_%2C_0.3295|false|false|1||false|true|false|DCLRE1B:64858_%7C_AP4B1:10717|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1217397|114447565|true|false|0|true|0|false|0.586304_%2C_0.413696|false|false|true|SNV|true|0x0501004a000515053f000101|1|false|87|rs1217397] chr1 144364205 . G A 302.26 PASS FUNCOTATION=[PPIAL4B|hg19|chr1|144364205|144364205|DE_NOVO_START_OUT_FRAME||SNP|G|G|A|g.chr1:144364205G>A|ENST00000540273.1|-|1|||||0.4114713216957606|TGATGGTGGCGTCTGCAAAGA|AL592284.1_ENST00000538264.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] chr1 144864277 . G A 487.26 PASS FUNCOTATION=[PDE4DIP|hg19|chr1|144864277|144864277|NONSENSE||SNP|G|G|A|g.chr1:144864277G>A|ENST00000530740.1|-|38|6112|c.6073C>T|c.(6073-6075)Cga>Tga|p.R2025*|0.5211970074812967|AGGTGGGATCGAGAGGACAGC|PDE4DIP_ENST00000369359.4_NONSENSE_p.R2076*/PDE4DIP_ENST00000369356.4_NONSENSE_p.R1940*/PDE4DIP_ENST00000369354.3_NONSENSE_p.R1940*/PDE4DIP_ENST00000313382.9_NONSENSE_p.R1834*/RP4-791M13.4_ENST00000532137.1_RNA/PDE4DIP_ENST00000524974.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|PDE4DIP:9659|false|true|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|139257887|144864277|false|false|0|true|0|false||false|false|false|SNV|true|0x050100000e05040402000100|1|false|134|rs139257887] chr1 144916676 . C T 171.25 PASS FUNCOTATION=[PDE4DIP|hg19|chr1|144916676|144916676|NONSENSE||SNP|C|C|T|g.chr1:144916676C>T|ENST00000530740.1|-|16|2129|c.2090G>A|c.(2089-2091)tGg>tAg|p.W697*|0.40399002493765584|TTCTTTCAGCCACTGGAGGTT|PDE4DIP_ENST00000479408.2_NONSENSE_p.W347*/PDE4DIP_ENST00000313431.9_NONSENSE_p.W723*/PDE4DIP_ENST00000529945.1_NONSENSE_p.W723*/PDE4DIP_ENST00000369359.4_NONSENSE_p.W697*/PDE4DIP_ENST00000369356.4_NONSENSE_p.W560*/PDE4DIP_ENST00000369354.3_NONSENSE_p.W560*/PDE4DIP_ENST00000313382.9_NONSENSE_p.W626*/PDE4DIP_ENST00000369351.3_NONSENSE_p.W560*/PDE4DIP_ENST00000369349.3_NONSENSE_p.W560*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|true|PDE4DIP:9659|true|false|false|true|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|true|1698683|144916676|true|true|0|true|0|false||false|false|false|SNV|true|0x050300000605070116000100|1|false|89|rs1698683] chr1 145273366 rs140871032 C T 452.25 PASS FUNCOTATION=[NOTCH2NL|hg19|chr1|145273366|145273366|NONSENSE||SNP|C|C|T|g.chr1:145273366C>T|ENST00000369340.3|+|4|664|c.220C>T|c.(220-222)Cga>Tga|p.R74*|0.49875311720698257|CTTTGTGTCTCGACCTTGCCT|NOTCH2NL_ENST00000362074.6_NONSENSE_p.R74*/NOTCH2NL_ENST00000344859.3_NONSENSE_p.R74*/RP11-458D21.5_ENST00000468030.1_NONSENSE_p.R74*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|true|false|NOTCH2NL:388677|false|false|false|false|false|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|140871032|145273366|false|true|0|true|0|false||false|false|false|SNV|true|0x050300000e05050002000100|1|false|134|rs140871032] -chr1 151736876 rs1568485 C T 956.10 PASS FUNCOTATION=[OAZ3|hg19|chr1|151736876|151736876|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:151736876C>T|ENST00000479764.1|+|1|||||0.4239401496259352|TTTCCTCTTACGTATCCAAAG|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000315067.8_INTRON/RP11-98D18.3_ENST00000512280.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2428_%2C_0.7572|false|false|1||false|true|false|OAZ3:51686_%7C_MRPL9:65005|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1568485|151736876|false|false|0|true|0|false|0.335394_%2C_0.664606|false|false|false|SNV|true|0x0501000a000515053f000100|1|false|88|rs1568485] +chr1 151736876 rs1568485 C T 956.10 PASS FUNCOTATION=[OAZ3|hg19|chr1|151736876|151736876|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:151736876C>T|ENST00000479764.1|+|1|||||0.4239401496259352|TTTCCTCTTACGTATCCAAAG|OAZ3_ENST00000453029.2_INTRON/OAZ3_ENST00000321531.5_INTRON/OAZ3_ENST00000315067.8_INTRON/OAZ3_ENST00000400999.1_FIVE_PRIME_FLANK/OAZ3_ENST00000577465.1_FIVE_PRIME_FLANK/RP11-98D18.3_ENST00000512280.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2428_%2C_0.7572|false|false|1||false|true|false|OAZ3:51686_%7C_MRPL9:65005|true|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|1568485|151736876|false|false|0|true|0|false|0.335394_%2C_0.664606|false|false|false|SNV|true|0x0501000a000515053f000100|1|false|88|rs1568485] chr1 152195728 rs34061715 AT A 2639.69 PASS FUNCOTATION=[HRNR|hg19|chr1|152195729|152195729|START_CODON_DEL||DEL|T|T|-|g.chr1:152195729delT|ENST00000368801.2|-|2|78|c.1delA|||0.3640897755610973|AGTTTAGGCATTTTTTTTTTT|FLG-AS1_ENST00000420707.1_RNA/FLG-AS1_ENST00000593011.1_RNA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_true_%7C_true|true_%7C_false_%7C_false|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_true_%7C_false|134_%7C_142_%7C_138|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|_%7C__%7C_|HRNR:388697_%7C_HRNR:388697_%7C_HRNR:388697|false_%7C_false_%7C_false|1_%7C_1_%7C_1|false_%7C_false_%7C_false|true_%7C_false_%7C_true|false_%7C_false_%7C_false|true_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0.07648_%2C_0.874_%7C_0.07648_%2C_0.874_%7C_0.07648_%2C_0.874|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|34061715_%7C_530205886_%7C_397824794|false_%7C_false_%7C_false|false_%7C_false_%7C_false|0x050100001205000102000200_%7C_0x050000400005150024000200_%7C_0x050100400005000102000200|false_%7C_false_%7C_false|false_%7C_false_%7C_false|152195729_%7C_152195730_%7C_152195739|0_%7C_0_%7C_0|false_%7C_false_%7C_false|false_%7C_true_%7C_false|false_%7C_false_%7C_false|false_%7C_false_%7C_false|_%7C__%7C_|true_%7C_false_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|false_%7C_false_%7C_false|false_%7C_true_%7C_false|rs34061715_%7C_rs530205886_%7C_rs397824794|true_%7C_true_%7C_true|false_%7C_false_%7C_false|_%7C__%7C_|DIV_%7C_DIV_%7C_DIV|false_%7C_false_%7C_false] chr1 152770613 rs41268500 T G 414.25 PASS FUNCOTATION=[LCE1D|hg19|chr1|152770613|152770613|NONSTOP||SNP|T|T|G|g.chr1:152770613T>G|ENST00000326233.6|+|2|386|c.343T>G|c.(343-345)Tga>Gga|p.*115G|0.5960099750623441|AGGCTGCTGCTGAAGTGGACC||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9419_%2C_0.05811|false|false|1||false|true|false|LCE1D:353134|false|false|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|41268500|152770613|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000205150036000100|1|false|127|rs41268500] -chr1 156124223 . T TG 479.29 PASS FUNCOTATION=[SEMA4A|hg19|chr1|156124223|156124224|FIVE_PRIME_UTR||INS|-|-|G|g.chr1:156124223_156124224insG|ENST00000368282.1|+|1|||||0.585|CTGCCCCAATGCCCCACCCC|SEMA4A_ENST00000368285.3_INTRON/SEMA4A_ENST00000355014.2_INTRON/SEMA4A_ENST00000368284.1_INTRON/SEMA4A_ENST00000368286.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SEMA4A:64218|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|551865598|156124223|false|false|0|false|0|false|0.998832_%2C_0.00116766|false|false|false|DIV|true|0x050000080005040026000200|1|false|142|rs551865598] +chr1 156124223 . T TG 479.29 PASS FUNCOTATION=[SEMA4A|hg19|chr1|156124223|156124224|FIVE_PRIME_UTR||INS|-|-|G|g.chr1:156124223_156124224insG|ENST00000368282.1|+|1|||||0.585|CTGCCCCAATGCCCCACCCC|SEMA4A_ENST00000368285.3_INTRON/SEMA4A_ENST00000355014.2_INTRON/SEMA4A_ENST00000368284.1_INTRON/SEMA4A_ENST00000368286.2_INTRON/SEMA4A_ENST00000487358.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9992_%2C_0.0007987|false|false|0||false|false|false|SEMA4A:64218|false|false|true|false|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|551865598|156124223|false|false|0|false|0|false|0.998832_%2C_0.00116766|false|false|false|DIV|true|0x050000080005040026000200|1|false|142|rs551865598] chr1 156213921 rs7513351 C T 744.25 PASS FUNCOTATION=[PAQR6|hg19|chr1|156213921|156213921|SILENT||SNP|C|C|T|g.chr1:156213921C>T|ENST00000292291.5|-|8|1193|c.1034G>A|c.(1033-1035)tGa>tAa|p.*345*|0.6359102244389028|GATGGGGCCTCACTGTTGTTT|PAQR6_ENST00000335852.1_MISSENSE_p.E263K/PAQR6_ENST00000368270.1_SILENT_p.*321*/PAQR6_ENST00000540423.1_SILENT_p.*342*/PAQR6_ENST00000356983.2_MISSENSE_p.E263K/PAQR6_ENST00000492619.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.7808_%2C_0.2192|false|false|1||false|true|true|PAQR6:79957|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|7513351|156213921|false|false|0|true|0|true|0.822275_%2C_0.177725|false|false|false|SNV|true|0x050128000b0517053f000100|1|false|116|rs7513351] -chr1 159174123 rs3027012 C T 751.12 PASS FUNCOTATION=[DARC|hg19|chr1|159174123|159174123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:159174123C>T|ENST00000368122.2|+|1|||||0.5336658354114713|ACACAGCAAACGTACACAGAG|DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME/CTA-134P22.2_ENST00000609696.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9085_%2C_0.09145|false|false|1||false|true|false|CADM3-AS1:100131825_%7C_ACKR1:2532|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3027012|159174123|false|false|0|true|0|false|0.887492_%2C_0.112508|false|false|true|SNV|true|0x05010042000515053f000100|1|false|102|rs3027012] -chr1 161601097 rs67020125 C A 447.25 PASS FUNCOTATION=[FCGR3B|hg19|chr1|161601097|161601097|INTRON||SNP|C|C|A|g.chr1:161601097C>A|ENST00000367964.2|-|||c.e2+169G>T|||0.5361596009975063|AGGAAAGAGCCTGGAGGCAAG|FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME/FCGR2B_ENST00000403078.3_INTRON/FCGR2B_ENST00000367962.4_INTRON/FCGR2B_ENST00000367960.5_INTRON/FCGR2B_ENST00000428605.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9058_%2C_0.09425|false|false|1||false|true|true|FCGR3B:2215|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|67020125|161601097|false|false|0|true|0|false||false|false|true|SNV|true|0x0501004a000517043e000100|1|false|130|rs67020125] +chr1 159174123 rs3027012 C T 751.12 PASS FUNCOTATION=[DARC|hg19|chr1|159174123|159174123|DE_NOVO_START_OUT_FRAME||SNP|C|C|T|g.chr1:159174123C>T|ENST00000368122.2|+|1|||||0.5336658354114713|ACACAGCAAACGTACACAGAG|DARC_ENST00000537147.1_DE_NOVO_START_OUT_FRAME/DARC_ENST00000368121.2_FIVE_PRIME_FLANK/CTA-134P22.2_ENST00000609696.1_RNA/CTA-134P22.2_ENST00000415675.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9085_%2C_0.09145|false|false|1||false|true|false|CADM3-AS1:100131825_%7C_ACKR1:2532|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|3027012|159174123|false|false|0|true|0|false|0.887492_%2C_0.112508|false|false|true|SNV|true|0x05010042000515053f000100|1|false|102|rs3027012] +chr1 161601097 rs67020125 C A 447.25 PASS FUNCOTATION=[FCGR3B|hg19|chr1|161601097|161601097|INTRON||SNP|C|C|A|g.chr1:161601097C>A|ENST00000367964.2|-|||c.e2+169G>T|||0.5361596009975063|AGGAAAGAGCCTGGAGGCAAG|FCGR3B_ENST00000294800.3_DE_NOVO_START_OUT_FRAME/FCGR2B_ENST00000403078.3_INTRON/FCGR2B_ENST00000367962.4_INTRON/FCGR2B_ENST00000367960.5_INTRON/FCGR2B_ENST00000428605.2_INTRON/FCGR3B_ENST00000531221.1_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9058_%2C_0.09425|false|false|1||false|true|true|FCGR3B:2215|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|67020125|161601097|false|false|0|true|0|false||false|false|true|SNV|true|0x0501004a000517043e000100|1|false|130|rs67020125] chr1 167385324 rs34032944 TA T 301.38 PASS FUNCOTATION=[POU2F1|hg19|chr1|167385325|167385325|THREE_PRIME_UTR||DEL|A|A|-|g.chr1:167385325delA|ENST00000367862.5|+|16|||||0.3266832917705736|ACCAAAAATTAAAAAAAAAAA|POU2F1_ENST00000367866.2_THREE_PRIME_UTR/POU2F1_ENST00000420254.3_NONSTOP_p.K656fs/POU2F1_ENST00000367865.1_INTRON||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|126_%7C_144|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|POU2F1:5451_%7C_POU2F1:5451|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|0.3023_%2C_0.6977_%7C_0.3023_%2C_0.6977|34032944_%7C_779631157|false_%7C_false|false_%7C_false|0x050000800005170026000200_%7C_0x050000800005000002000200|true_%7C_false|false_%7C_false|167385325_%7C_167385326|0_%7C_0|false_%7C_false|true_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs34032944_%7C_rs779631157|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr1 196757960 rs116394410 G A 269.25 PASS FUNCOTATION=[CFHR3|hg19|chr1|196757960|196757960|INTRON||SNP|G|G|A|g.chr1:196757960G>A|ENST00000367425.4|+|||c.e4+432G>A|||0.3765586034912718|ATTTCTGCTAGCGTCAGGAGA|CFHR3_ENST00000471440.2_SILENT_p.*233*/CFHR3_ENST00000391985.3_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9952_%2C_0.004792|false|false|1||false|false|false|CFHR3:10878|false|true|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|116394410|196757960|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305040436000100|1|false|132|rs116394410] chr1 230829139 rs1051038 A G 990.12 PASS FUNCOTATION=[COG2|hg19|chr1|230829139|230829139|SILENT||SNP|A|A|G|g.chr1:230829139A>G|ENST00000366669.4|+|18|2332|c.2217A>G|c.(2215-2217)taA>taG|p.*739*|0.4513715710723192|AGCAGCCTTAAGCATCTTGGA|COG2_ENST00000366668.3_SILENT_p.*738*/COG2_ENST00000534989.1_SILENT_p.*680*/COG2_ENST00000535166.1_SILENT_p.*623*/COG2_ENST00000546013.1_SILENT_p.*428*|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6554_%2C_0.3446|false|false|1||false|true|true|COG2:22796|true|true|false|true|true|false|false|false|false|false|false|false|false|false|false|true|true|false|false|true|1051038|230829139|false|false|0|true|0|true|0.75577_%2C_0.24423|false|false|false|SNV|true|0x05012800030517053f000100|1|false|86|rs1051038] @@ -245,7 +245,7 @@ chr2 20251675 rs1513829 G C 720.25 PASS FUNCOTATION=[LAPTM4A|hg19|chr2|20251675| chr2 24395506 rs889830 T C 2849.69 PASS FUNCOTATION=[RP11-507M3.1|hg19|chr2|24395506|24395506|NONSTOP||SNP|T|T|C|g.chr2:24395506T>C|ENST00000584973.1|+|7|699|c.610T>C|c.(610-612)Tga>Cga|p.*204R|0.4688279301745636|CGGACTCAAGTGATCCTCCCA|AC008073.7_ENST00000428344.1_RNA/AC008073.7_ENST00000438414.1_RNA|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.1865_%2C_0.8135|false|false|1||false|true|true|FAM228A:653140|true|false|false|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|true|false|889830|24395506|false|false|0|true|0|false|0.232209_%2C_0.767791|false|false|false|SNV|true|0x050100020005170136000100|1|false|86|rs889830] chr2 26477125 rs59947000 G GACT 4547.73 PASS FUNCOTATION=[HADHB|hg19|chr2|26477125|26477126|IN_FRAME_INS||INS|-|-|ACT|g.chr2:26477125_26477126insACT|ENST00000317799.5|+|2|107|c.3_4insACT|c.(4-6)act>ACTact|p.1_2insT|0.325|TTCCAGAATGACTATCTTGA|HADHB_ENST00000405867.3_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000537713.1_IN_FRAME_INS_p.1_2insT/HADHB_ENST00000545822.1_FIVE_PRIME_UTR|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.2905_%2C_0.7095|false|false|1||false|false|false|HADHB:3032|false|false|false|false|false|true|false|false|false|false|false|false|false|false|false|true|false|false|false|false|1064793144|26477125|false|false|0|false|0|false||false|false|true|DIV|false|0x050060400005000002100200|1|false|150|rs1064793144] chr2 69659126 rs4453725 A T 1997.94 PASS FUNCOTATION=[NFU1|hg19|chr2|69659126|69659126|MISSENSE||SNP|A|A|T|g.chr2:69659126A>T|ENST00000410022.2|-|2|280|c.74T>A|c.(73-75)aTg>aAg|p.M25K|0.32917705735660846|ATTCTTCAACATATGACAGAA|NFU1_ENST00000303698.3_START_CODON_SNP_p.M1K/NFU1_ENST00000394305.1_FIVE_PRIME_UTR/NFU1_ENST00000471185.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6829_%2C_0.3171|false|false|1||false|true|true|NFU1:27247|true|true|false|true|true|true|false|false|false|false|false|true|false|false|false|true|false|false|false|true|4453725|69659126|true|false|1|true|0|false|0.641434_%2C_0.358566|false|false|true|SNV|true|0x050160400a0517053f100100|1|false|111|rs4453725] -chr2 70120909 rs3214822 GA G 722.12 PASS FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|3214822_%7C_397747233|false_%7C_false|false_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|true_%7C_false|false_%7C_false|70120910_%7C_70120912|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3214822_%7C_rs397747233|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] +chr2 70120909 rs3214822 GA G 722.12 PASS FUNCOTATION=[SNRNP27|hg19|chr2|70120910|70120910|FIVE_PRIME_UTR||DEL|A|A|-|g.chr2:70120910delA|ENST00000244227.3|+|1|||||0.43640897755610975|GGGAAAAATGAAAGCTGTGTT|SNRNP27_ENST00000409116.1_FIVE_PRIME_FLANK/SNRNP27_ENST00000488986.1_FIVE_PRIME_FLANK||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false_%7C_false|false_%7C_false|0_%7C_0|false_%7C_false|false_%7C_false|false_%7C_false|true_%7C_false|true_%7C_false|134_%7C_138|false_%7C_false|false_%7C_false|1_%7C_1|false_%7C_false|false_%7C_false|SNRNP27:11017_%7C_SNRNP27:11017|_%7C_|false_%7C_false|1_%7C_1|false_%7C_false|true_%7C_true|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|false_%7C_false|0.661217_%2C_0.338783_%7C_|false_%7C_false|false_%7C_false|0.6222_%2C_0.3778_%7C_0.6222_%2C_0.3778|3214822_%7C_397747233|false_%7C_false|false_%7C_false|0x05010002000517013e000200_%7C_0x050100020005000002000200|true_%7C_false|false_%7C_false|70120910_%7C_70120912|0_%7C_0|false_%7C_false|true_%7C_false|true_%7C_true|false_%7C_false|true_%7C_false|_%7C_|false_%7C_false|false_%7C_false|_%7C_|true_%7C_false|rs3214822_%7C_rs397747233|true_%7C_true|false_%7C_false|DIV_%7C_DIV|_%7C_|false_%7C_false] chr2 71163086 rs11681642 T C 1573.93 PASS FUNCOTATION=[ATP6V1B1|hg19|chr2|71163086|71163086|START_CODON_SNP||SNP|T|T|C|g.chr2:71163086T>C|ENST00000234396.4|+|1|75|c.2T>C|c.(1-3)aTg>aCg|p.M1T|0.6508728179551122|GACTGCTCCATGGCCATGGAG|ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.6312_%2C_0.3688|false|false|1||false|true|true|ATP6V1B1:525|true|true|false|true|true|false|false|false|false|false|false|true|false|false|false|true|true|false|false|true|11681642|71163086|false|false|0|true|0|false||false|false|false|SNV|true|0x050128000a05170537000100|1|false|120|rs11681642] chr2 85549868 rs4240199 A G 1564.94 PASS FUNCOTATION=[TGOLN2|hg19|chr2|85549868|85549868|MISSENSE||SNP|A|A|G|g.chr2:85549868A>G|ENST00000409232.3|-|4|1384|c.1322T>C|c.(1321-1323)cTa>cCa|p.L441P|0.38902743142144636|GTTAGGACTTAGGGGAAAAAA|TGOLN2_ENST00000377386.3_INTRON/TGOLN2_ENST00000398263.2_INTRON/TGOLN2_ENST00000409015.1_NONSTOP_p.*455Q/TGOLN2_ENST00000282120.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.221_%2C_0.779|false|false|1||false|true|false|TGOLN2:10618|true|true|true|true|true|false|false|false|false|false|false|true|true|false|false|false|false|false|false|true|4240199|85549868|false|false|0|true|0|false|0.29877_%2C_0.70123|false|false|false|SNV|true|0x050100080e0515053e000100|1|false|111|rs4240199] chr2 87069431 rs4514875 C T 1607.93 PASS FUNCOTATION=[CD8B|hg19|chr2|87069431|87069431|SILENT||SNP|C|C|T|g.chr2:87069431C>T|ENST00000390655.6|-|6|691|c.632G>A|c.(631-633)tGa>tAa|p.*211*|0.4239401496259352|ATTCTCTGCTCATTTGTAAAA|CD8B_ENST00000393759.2_INTRON/CD8B_ENST00000349455.3_INTRON/CD8B_ENST00000331469.2_INTRON/CD8B_ENST00000393761.2_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3055_%2C_0.6945|false|false|1||false|true|true|CD8B:926|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|true|4514875|87069431|false|false|0|true|0|true||false|false|false|SNV|true|0x050100080305170036000100|1|false|111|rs4514875] @@ -258,4 +258,4 @@ chr2 231222675 rs4973318 T C 421.25 PASS FUNCOTATION=[SP140L|hg19|chr2|231222675 chr2 240084053 rs3791516 T A 540.25 PASS FUNCOTATION=[HDAC4|hg19|chr2|240084053|240084053|INTRON||SNP|T|T|A|g.chr2:240084053T>A|ENST00000345617.3|-|||c.e6-1446A>T|||0.6533665835411472|TGGCTCCTCATCCTGCCCTTT|AC017028.1_ENST00000396489.1_START_CODON_SNP_p.M1L/HDAC4_ENST00000541256.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.9123_%2C_0.08766|false|false|1||false|true|false|HDAC4:9759|false|false|true|true|true|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|3791516|240084053|false|false|0|true|0|false|0.927914_%2C_0.072086|false|false|false|SNV|true|0x050100080005150036000100|1|false|107|rs3791516] chr7 103629803 . T TGCCGCC 3401.98 PASS FUNCOTATION=[RELN|hg19|chr7|103629803|103629804|IN_FRAME_INS||INS|-|-|GCCGCC|g.chr7:103629803_103629804insGCCGCC|ENST00000428762.1|-|1|161|c.0_1insGGCGGC|c.(1-3)atg>GGCGGCatg|p.0_1insGG|0.6975|TGCGCTCCATGCCGCCGCCG|RELN_ENST00000343529.5_IN_FRAME_INS_p.0_1insGG/RELN_ENST00000424685.2_IN_FRAME_INS_p.0_1insGG|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false|0.3958_%2C_._%2C_0.6042_%2C_._%2C_._%2C_._%2C_._%2C_._%2C_.|false|false|1||false|false|false|RELN:5649|false|false|false|false|true|true|false|false|false|true|false|false|false|false|false|true|true|false|false|false|587780434|103629803|true|false|1|false|0|false||false|false|true|DIV|true|0x050068400005140026100204|1|false|136|rs587780434] chr7 133812122 . T TAC 88.73 PASS FUNCOTATION=[LRGUK|hg19|chr7|133812122|133812123|START_CODON_INS||INS|-|-|AC|g.chr7:133812122_133812123insAC|ENST00000285928.2|+|1|71|c.2_3insAC|||0.56|TAAACAAGATGGCGACCTCC|LRGUK_ENST00000473068.1_INTRON|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||false|false||false|false|||false|false|false||false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|false|||false|false||false||false||false|false|false||false|||false||] -chr7 144059763 . A ATGGAGGCTGAGGAGGCCCAGCG 1490.18 PASS FUNCOTATION=[ARHGEF5|hg19|chr7|144059763|144059764|START_CODON_INS||INS|-|-|TGGAGGCTGAGGAGGCCCAGCG|g.chr7:144059763_144059764insTGGAGGCTGAGGAGGCCCAGCG|ENST00000056217.5|+|2|175|c.1_2insTGGAGGCTGAGGAGGCCCAGCG|||0.445|TCAGCCCTGATGGAGGCTGA||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ARHGEF5:7984|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|766185415|144059763|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs766185415] +chr7 144059763 . A ATGGAGGCTGAGGAGGCCCAGCG 1490.18 PASS FUNCOTATION=[ARHGEF5|hg19|chr7|144059763|144059764|START_CODON_INS||INS|-|-|TGGAGGCTGAGGAGGCCCAGCG|g.chr7:144059763_144059764insTGGAGGCTGAGGAGGCCCAGCG|ENST00000056217.5|+|2|175|c.1_2insTGGAGGCTGAGGAGGCCCAGCG|||0.445|TCAGCCCTGATGGAGGCTGA|ARHGEF5_ENST00000471847.2_FIVE_PRIME_FLANK|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||true|false||false|false|||false|false|false|ARHGEF5:7984|false|false|false|false|false|false|false|false|false|false|true|false|false|false|false|false|false|false|false|true|766185415|144059763|false|false|0|false|0|false||false|false|false|DIV|true|0x050000001205040002000200|1|false|144|rs766185415] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf index 97e63b426bb..3c9432a2a9b 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.maf @@ -3423,8 +3423,8 @@ ## source=GenotypeGVCFs ## source=VariantFiltration ## source=Funcotator -## GATKCommandLine= -## Funcotator 0.0.5 | Date 20183513T123517 | Gencode 28 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 90_38 | Gencode_XRefSeq 90_38 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 +## GATKCommandLine= +## Funcotator 0.0.5 | Date 20184415T014451 | Gencode 28 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 90_38 | Gencode_XRefSeq 90_38 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Activity_linked_to_OMIM FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values tumor_f t_alt_count t_ref_count n_alt_count n_ref_count Gencode_28 _hugoSymbol Gencode_28 _ncbiBuild Gencode_28 _chromosome Gencode_28 _start Gencode_28 _end Gencode_28 _variantClassification Gencode_28 _secondaryVariantClassification Gencode_28 _variantType Gencode_28 _refAllele Gencode_28 _tumorSeqAllele1 Gencode_28 _tumorSeqAllele2 Gencode_28 _genomeChange Gencode_28 _annotationTranscript Gencode_28 _transcriptStrand Gencode_28 _transcriptExon Gencode_28 _transcriptPos Gencode_28 _cDnaChange Gencode_28 _codonChange Gencode_28 _proteinChange Gencode_28 _gcContent Gencode_28 _referenceContext Gencode_28 _otherTranscripts Achilles_Top_Genes CGC_Name CGC_GeneID CGC_Chr CGC_Chr_Band CGC_Cancer_Somatic_Mut CGC_Cancer_Germline_Mut CGC_Cancer_Syndrome CGC_Tissue_Type CGC_Cancer_Molecular_Genetics CGC_Other_Germline_Mut CosmicFusion_fusion_id DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView DNARepairGenes_Accession_number_linked_to_NCBI_Entrez Familial_Cancer_Genes_Synonym Familial_Cancer_Genes_Reference Gencode_XHGNC_hgnc_id HGNC_HGNC_ID HGNC_Status HGNC_Locus_Type HGNC_Locus_Group HGNC_Previous_Symbols HGNC_Previous_Name HGNC_Synonyms HGNC_Name_Synonyms HGNC_Chromosome HGNC_Date_Modified HGNC_Date_Symbol_Changed HGNC_Date_Name_Changed HGNC_Accession_Numbers HGNC_Enzyme_IDs HGNC_Ensembl_Gene_ID HGNC_Pubmed_IDs HGNC_RefSeq_IDs HGNC_Gene_Family_ID HGNC_Gene_Family_Name HGNC_CCDS_IDs HGNC_Vega_ID HGNC_OMIM_ID(supplied_by_OMIM) HGNC_RefSeq(supplied_by_NCBI) HGNC_UniProt_ID(supplied_by_UniProt) HGNC_Ensembl_ID(supplied_by_Ensembl) HGNC_UCSC_ID(supplied_by_UCSC) Simple_Uniprot_alt_uniprot_accessions dbSNP_AC dbSNP_AF dbSNP_AN dbSNP_ASP dbSNP_ASS dbSNP_CAF dbSNP_CDA dbSNP_CFL dbSNP_COMMON dbSNP_DP dbSNP_DSS dbSNP_G5 dbSNP_G5A dbSNP_GENEINFO dbSNP_GNO dbSNP_HD dbSNP_INT dbSNP_KGPhase1 dbSNP_KGPhase3 dbSNP_LSD dbSNP_MTP dbSNP_MUT dbSNP_NOC dbSNP_NOV dbSNP_NSF dbSNP_NSM dbSNP_NSN dbSNP_OM dbSNP_OTH dbSNP_PM dbSNP_PMC dbSNP_R3 dbSNP_R5 dbSNP_REF dbSNP_RV dbSNP_S3D dbSNP_SAO dbSNP_SLO dbSNP_SSR dbSNP_SYN dbSNP_TOPMED dbSNP_TPA dbSNP_U3 dbSNP_U5 dbSNP_VC dbSNP_VP dbSNP_WGT dbSNP_WTD dbSNP_dbSNPBuildID dbSNP_ID HGNC_Entrez_Gene_ID(supplied_by_NCBI) dbSNP_RSPOS dbSNP_VLD AC AF AN BaseQRankSum ClippingRankSum DB DP DS END ExcessHet FS HaplotypeScore InbreedingCoeff MLEAC MLEAF MQ MQRankSum NEGATIVE_TRAIN_SITE POSITIVE_TRAIN_SITE QD RAW_MQ ReadPosRankSum SOR VQSLOD culprit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ENAH hg38 chr1 225519331 225519349 IN_FRAME_DEL DEL ATCCAGGCGTTCCTGCCGC ATCCAGGCGTTCCTGCCGC A g.chr1:225519332_225519349delTCCAGGCGTTCCTGCCGC ENST00000366844.7 - 5 1121_1138 c.651_668delGCGGCAGGAACGCCTGGA c.(649-669)gagcggcaggaacgcctggat>gat p.ERQERL217del 0.5382775119617225 CCTCTCCCGATCCAGGCGTTCCTGCCGCTCCAGGCGTT ENAH_ENST00000635051.1_IN_FRAME_DEL_p.ERQERL221del/ENAH_ENST00000366843.6_IN_FRAME_DEL_p.ERQERL217del false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ENAH hg38 chr1 225519331 225519349 IN_FRAME_INS INS ATCCAGGCGTTCCTGCCGC ATCCAGGCGTTCCTGCCGC ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC g.chr1:225519331_225519332insTCCAGGCGTTCCTGCCGC ENST00000366844.7 - 5 1121_1138 c.650_651insGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGA c.(649-669)gagcggcaggaacgcctggat>gaGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGAt p.217_224insRLERQE 0.5382775119617225 CCTCTCCCGATCCAGGCGTTCCTGCCGCTCCAGGCGTT ENAH_ENST00000635051.1_IN_FRAME_INS_p.221_228insRLERQE/ENAH_ENST00000366843.6_IN_FRAME_INS_p.217_224insRLERQE false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf index 5bc5b1b4bd5..6f9916fa6b1 100644 --- a/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf +++ b/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestVariantSetHG38_expected.vcf @@ -22,7 +22,7 @@ ##GATKCommandLine.HaplotypeCaller= ##GATKCommandLine= ##GATKCommandLine= -##GATKCommandLine= +##GATKCommandLine= ##GATKCommandLine= ##GATKCommandLine= ##GATKCommandLine= 54.69 --filter-name ExcessHet --variant /cromwell_root/broad-jg-dev-cromwell-execution/JointGenotyping/5e7eb2b3-7b92-4b97-824d-5206122613f6/call-GenotypeGVCFs/shard-0/output.vcf.gz --cluster-size 3 --cluster-window-size 0 --mask-extension 0 --mask-name Mask --filter-not-in-mask false --missing-values-evaluate-as-failing false --invalidate-previous-filters false --invert-filter-expression false --invert-genotype-filter-expression false --set-filtered-genotype-to-no-call false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false",Version=4.0.1.0,Date="April 4, 2018 5:33:28 PM UTC">