{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366238647", "communityStandardTitle": [ "NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3859979", "active": true, "id": "COSM3859979" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3859980", "active": true, "id": "COSM3859980" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980921[alleleid]", "alleleId": 980921, "preferredName": "NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/993011", "RCV": [ "RCV001283817" ], "variationId": 993011 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157517409C>T?assembly=hg19", "id": "chr6:g.157517409C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157196275C>T?assembly=hg38", "id": "chr6:g.157196275C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554234402", "rs": 1554234402 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157196275, "referenceAllele": "C", "start": 157196274 } ], "hgvs": [ "NC_000006.12:g.157196275C>T", "CM000668.2:g.157196275C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157517409, "referenceAllele": "C", "start": 157517408 } ], "hgvs": [ "NC_000006.11:g.157517409C>T", "CM000668.1:g.157517409C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157559101, "referenceAllele": "C", "start": 157559100 } ], "hgvs": [ "NC_000006.10:g.157559101C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 423346, "referenceAllele": "C", "start": 423345 } ], "hgvs": [ "NG_032093.1:g.423346C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005122" }, { "coordinates": [ { "allele": "T", "end": 423346, "referenceAllele": "C", "start": 423345 } ], "hgvs": [ "NG_032093.2:g.423346C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616333" }, { "coordinates": [ { "allele": "T", "end": 425250, "referenceAllele": "C", "start": 425249 } ], "hgvs": [ "NG_066624.1:g.425250C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706193" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4183, "referenceAllele": "C", "start": 4182 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.11:c.4183C>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.8:p.Gln1395Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS913972" }, { "coordinates": [ { "allele": "T", "end": 4252, "referenceAllele": "C", "start": 4251 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.8:c.4252C>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.3:p.Gln1418Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914032" }, { "coordinates": [ { "allele": "T", "end": 4471, "referenceAllele": "C", "start": 4470 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637015.2:c.4471C>T" ], "proteinEffect": { "hgvs": "ENSP00000489729.2:p.Gln1491Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS906363" }, { "coordinates": [ { "allele": "T", "end": 5148, "referenceAllele": "C", "start": 5147 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.10:c.4222C>T" ], "proteinEffect": { "hgvs": "ENSP00000344546.5:p.Gln1408Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748305" }, { "coordinates": [ { "allele": "T", "end": 3934, "referenceAllele": "C", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.10:c.3934C>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Gln1312Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748423" }, { "coordinates": [ { "allele": "T", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.7:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Gln834Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754582" }, { "coordinates": [ { "allele": "T", "end": 2250, "referenceAllele": "C", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635849.1:c.1663C>T" ], "proteinEffect": { "hgvs": "ENSP00000490948.1:p.Gln555Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762681" }, { "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635957.1:c.1294C>T" ], "proteinEffect": { "hgvs": "ENSP00000490385.1:p.Gln432Ter", "hgvsWellDefined": "ENSP00000490385.1:p.Gln432Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762765" }, { "coordinates": [ { "allele": "T", "end": 2805, "referenceAllele": "C", "start": 2804 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636227.1:n.2805C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762967" }, { "coordinates": [ { "allele": "T", "end": 4645, "referenceAllele": "C", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636930.2:c.4342C>T" ], "proteinEffect": { "hgvs": "ENSP00000490491.2:p.Gln1448Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4342C>T" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4342C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Gln1448Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Gln1448Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2339, "referenceAllele": "C", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636940.1:n.2339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763493" }, { "coordinates": [ { "allele": "T", "end": 1710, "referenceAllele": "C", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637015.1:c.1710C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763546" }, { "coordinates": [ { "allele": "T", "end": 1624, "referenceAllele": "C", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637568.1:c.1624C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763952" }, { "coordinates": [ { "allele": "T", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637741.1:n.1008C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764077" }, { "coordinates": [ { "allele": "T", "end": 1826, "referenceAllele": "C", "start": 1825 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637810.1:c.1684C>T" ], "proteinEffect": { "hgvs": "ENSP00000489636.1:p.Gln562Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764126" }, { "coordinates": [ { "allele": "T", "end": 2344, "referenceAllele": "C", "start": 2343 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637904.1:c.1843C>T" ], "proteinEffect": { "hgvs": "ENSP00000490550.1:p.Gln615Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764197" }, { "coordinates": [ { "allele": "T", "end": 3973, "referenceAllele": "C", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000647938.1:c.3973C>T" ], "proteinEffect": { "hgvs": "ENSP00000498155.1:p.Gln1325Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769702" }, { "coordinates": [ { "allele": "T", "end": 4529, "referenceAllele": "C", "start": 4528 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.9:c.3973C>T" ], "proteinEffect": { "hgvs": "ENSP00000344546.4:p.Gln1325Ter", "hgvsWellDefined": "ENSP00000344546.4:p.Gln1325_Leu2249delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262224" }, { "coordinates": [ { "allele": "T", "end": 3935, "referenceAllele": "C", "start": 3934 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.9:c.3934C>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Gln1312Ter", "hgvsWellDefined": "ENSP00000055163.7:p.Gln1312_Leu2236delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262649" }, { "coordinates": [ { "allele": "T", "end": 2500, "referenceAllele": "C", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.6:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Gln834Ter", "hgvsWellDefined": "ENSP00000412835.2:p.Gln834_Leu1758delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283628" }, { "coordinates": [ { "allele": "T", "end": 3934, "referenceAllele": "C", "start": 3933 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.2:c.3934C>T" ], "proteinEffect": { "hgvs": "NP_059989.2:p.Gln1312Ter", "hgvsWellDefined": "NP_059989.2:p.Gln1312_Leu2236delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034978" }, { "coordinates": [ { "allele": "T", "end": 3973, "referenceAllele": "C", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_020732.3:c.3973C>T" ], "proteinEffect": { "hgvs": "NP_065783.3:p.Gln1325Ter", "hgvsWellDefined": "NP_065783.3:p.Gln1325_Leu2249delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036539" }, { "coordinates": [ { "allele": "T", "end": 4131, "referenceAllele": "C", "start": 4130 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_005267069.3:c.4093C>T" ], "proteinEffect": { "hgvs": "XP_005267126.2:p.Gln1365Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065283" }, { "coordinates": [ { "allele": "T", "end": 3268, "referenceAllele": "C", "start": 3267 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.1:c.3172C>T" ], "proteinEffect": { "hgvs": "XP_011534286.1:p.Gln1058Ter", "hgvsWellDefined": "XP_011534286.1:p.Gln1058_Leu1982delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102986" }, { "coordinates": [ { "allele": "T", "end": 3057, "referenceAllele": "C", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535985.1:c.2992C>T" ], "proteinEffect": { "hgvs": "XP_011534287.1:p.Gln998Ter", "hgvsWellDefined": "XP_011534287.1:p.Gln998_Leu1922delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102987" }, { "coordinates": [ { "allele": "T", "end": 2782, "referenceAllele": "C", "start": 2781 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535986.1:c.2752C>T" ], "proteinEffect": { "hgvs": "XP_011534288.1:p.Gln918Ter", "hgvsWellDefined": "XP_011534288.1:p.Gln918_Leu1842delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102988" }, { "coordinates": [ { "allele": "T", "end": 2386, "referenceAllele": "C", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535987.1:c.2371C>T" ], "proteinEffect": { "hgvs": "XP_011534289.1:p.Gln791Ter", "hgvsWellDefined": "XP_011534289.1:p.Gln791_Leu1715delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102989" }, { "coordinates": [ { "allele": "T", "end": 1333, "referenceAllele": "C", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Gln412Ter", "hgvsWellDefined": "XP_011534290.1:p.Gln412_Leu1336delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102990" }, { "coordinates": [ { "allele": "T", "end": 4168, "referenceAllele": "C", "start": 4167 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001346813.1:c.4093C>T" ], "proteinEffect": { "hgvs": "NP_001333742.1:p.Gln1365Ter", "hgvsWellDefined": "NP_001333742.1:p.Gln1365_Leu2289delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517678" }, { "@id": "http://reg.genome.network/allele/PA1139741857", "coordinates": [ { "allele": "T", "end": 2237, "referenceAllele": "C", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.1:c.1843C>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Gln615Ter", "hgvsWellDefined": "NP_001350654.1:p.Gln615_Leu1539delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523510" }, { "coordinates": [ { "allele": "T", "end": 4379, "referenceAllele": "C", "start": 4378 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.2:c.4303C>T" ], "proteinEffect": { "hgvs": "XP_011534286.2:p.Gln1435Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552267" }, { "coordinates": [ { "allele": "T", "end": 1322, "referenceAllele": "C", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.3:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Gln412Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552268" }, { "coordinates": [ { "allele": "T", "end": 4280, "referenceAllele": "C", "start": 4279 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011103.2:c.4204C>T" ], "proteinEffect": { "hgvs": "XP_016866592.1:p.Gln1402Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565022" }, { "coordinates": [ { "allele": "T", "end": 4249, "referenceAllele": "C", "start": 4248 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011104.1:c.4174C>T" ], "proteinEffect": { "hgvs": "XP_016866593.1:p.Gln1392Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565023" }, { "coordinates": [ { "allele": "T", "end": 4220, "referenceAllele": "C", "start": 4219 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011105.2:c.4144C>T" ], "proteinEffect": { "hgvs": "XP_016866594.1:p.Gln1382Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565024" }, { "coordinates": [ { "allele": "T", "end": 4090, "referenceAllele": "C", "start": 4089 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011106.2:c.4015C>T" ], "proteinEffect": { "hgvs": "XP_016866595.1:p.Gln1339Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565025" }, { "coordinates": [ { "allele": "T", "end": 4070, "referenceAllele": "C", "start": 4069 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011107.2:c.3994C>T" ], "proteinEffect": { "hgvs": "XP_016866596.1:p.Gln1332Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565026" }, { "coordinates": [ { "allele": "T", "end": 4386, "referenceAllele": "C", "start": 4385 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XR_002956289.1:n.4386C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602451" }, { "@id": "http://reg.genome.network/allele/PA1139741857", "coordinates": [ { "allele": "T", "end": 2232, "referenceAllele": "C", "start": 2231 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.2:c.1843C>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Gln615Ter", "hgvsWellDefined": "NP_001350654.1:p.Gln615_Leu1539delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690754" }, { "@id": "http://reg.genome.network/allele/PA2828448461", "coordinates": [ { "allele": "T", "end": 5142, "referenceAllele": "C", "start": 5141 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001371656.1:c.4222C>T" ], "proteinEffect": { "hgvs": "NP_001358585.1:p.Gln1408Ter", "hgvsWellDefined": "NP_001358585.1:p.Gln1408_Leu2332delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693001" }, { "@id": "http://reg.genome.network/allele/PA2828553592", "coordinates": [ { "allele": "T", "end": 4525, "referenceAllele": "C", "start": 4524 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374820.1:c.4222C>T" ], "proteinEffect": { "hgvs": "NP_001361749.1:p.Gln1408Ter", "hgvsWellDefined": "NP_001361749.1:p.Gln1408_Leu2332delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693382" }, { "@id": "http://reg.genome.network/allele/PA2828555387", "coordinates": [ { "allele": "T", "end": 4645, "referenceAllele": "C", "start": 4644 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374828.1:c.4342C>T" ], "proteinEffect": { "hgvs": "NP_001361757.1:p.Gln1448Ter", "hgvsWellDefined": "NP_001361757.1:p.Gln1448_Leu2372delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693389", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4342C>T" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4342C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Gln1448Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Gln1448Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829868894", "coordinates": [ { "allele": "T", "end": 4486, "referenceAllele": "C", "start": 4485 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.3:c.4183C>T" ], "proteinEffect": { "hgvs": "NP_059989.3:p.Gln1395Ter", "hgvsWellDefined": "NP_059989.3:p.Gln1395_Leu2319delinsArgGlnGlnPheProTyrGlyAlaSerTyrAspArgArgHisGluProTyrGlyGlnGlnTyrProGlyGlnGlyProProSerGlyGlnProProTyrGlyGlyHisGlnProGlyLeuTyrProGlnGlnProAsnTyrLysArgHisMetAspGlyMetTyrGlyProProAlaLysArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697814" } ], "type": "nucleotide" }