{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366240921", "communityStandardTitle": [ "NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=918273[alleleid]", "alleleId": 918273, "preferredName": "NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/929947", "RCV": [ "RCV001195289", "RCV003225960" ], "variationId": 929947 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157521916C>G?assembly=hg19", "id": "chr6:g.157521916C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157200782C>G?assembly=hg38", "id": "chr6:g.157200782C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1794042593", "rs": 1794042593 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "G", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748305" }, { "coordinates": [ { "allele": "G", "end": 4149, "referenceAllele": "C", "start": 4148 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.10:c.4149C>G" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Tyr1383Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754582" }, { "coordinates": [ { "allele": "G", "end": 2465, "referenceAllele": "C", "start": 2464 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635849.1:c.1878C>G" ], "proteinEffect": { "hgvs": "ENSP00000490948.1:p.Tyr626Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762681" }, { "coordinates": [ { "allele": "G", "end": 1509, "referenceAllele": "C", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635957.1:c.1509C>G" ], "proteinEffect": { "hgvs": "ENSP00000490385.1:p.Tyr503Ter", "hgvsWellDefined": "ENSP00000490385.1:p.Tyr503Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762765" }, { "coordinates": [ { "allele": "G", "end": 3020, "referenceAllele": "C", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636227.1:n.3020C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762967" }, { "coordinates": [ { "allele": "G", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763484", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4557C>G" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4557C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Tyr1519Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Tyr1519Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2554, "referenceAllele": "C", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636940.1:n.2554C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763493" }, { "coordinates": [ { "allele": "G", "end": 1925, "referenceAllele": "C", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637015.1:c.1925C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763546" }, { "coordinates": [ { "allele": "G", "end": 1839, "referenceAllele": "C", "start": 1838 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637568.1:c.1839C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763952" }, { "coordinates": [ { "allele": "G", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637741.1:n.1223C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764077" }, { "coordinates": [ { "allele": "G", "end": 2041, "referenceAllele": "C", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637810.1:c.1899C>G" ], "proteinEffect": { "hgvs": "ENSP00000489636.1:p.Tyr633Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764126" }, { "coordinates": [ { "allele": "G", "end": 2559, "referenceAllele": "C", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637904.1:c.2058C>G" ], "proteinEffect": { "hgvs": "ENSP00000490550.1:p.Tyr686Ter", "hgvsWellDefined": "ENSP00000490550.1:p.Tyr686_Leu1539delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764197" }, { "coordinates": [ { "allele": "G", "end": 4188, "referenceAllele": "C", "start": 4187 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000647938.1:c.4188C>G" ], "proteinEffect": { "hgvs": "ENSP00000498155.1:p.Tyr1396Ter", "hgvsWellDefined": "ENSP00000498155.1:p.Tyr1396_Leu2249delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769702" }, { "coordinates": [ { "allele": "G", "end": 4744, "referenceAllele": "C", "start": 4743 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.9:c.4188C>G" ], "proteinEffect": { "hgvs": "ENSP00000344546.4:p.Tyr1396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262224" }, { "coordinates": [ { "allele": "G", "end": 4150, "referenceAllele": "C", "start": 4149 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.9:c.4149C>G" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Tyr1383Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262649" }, { "coordinates": [ { "allele": "G", "end": 2715, "referenceAllele": "C", "start": 2714 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.6:c.2715C>G" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Tyr905Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS283628" }, { "coordinates": [ { "allele": "G", "end": 4149, "referenceAllele": "C", "start": 4148 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.2:c.4149C>G" ], "proteinEffect": { "hgvs": "NP_059989.2:p.Tyr1383Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034978" }, { "@id": "http://reg.genome.network/allele/PA2829951015", "coordinates": [ { "allele": "G", "end": 4188, "referenceAllele": "C", "start": 4187 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_020732.3:c.4188C>G" ], "proteinEffect": { "hgvs": "NP_065783.3:p.Tyr1396Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036539" }, { "coordinates": [ { "allele": "G", "end": 4346, "referenceAllele": "C", "start": 4345 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_005267069.3:c.4308C>G" ], "proteinEffect": { "hgvs": "XP_005267126.2:p.Tyr1436Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065283" }, { "coordinates": [ { "allele": "G", "end": 3483, "referenceAllele": "C", "start": 3482 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.1:c.3387C>G" ], "proteinEffect": { "hgvs": "XP_011534286.1:p.Tyr1129Ter", "hgvsWellDefined": "XP_011534286.1:p.Tyr1129_Leu1982delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102986" }, { "coordinates": [ { "allele": "G", "end": 3272, "referenceAllele": "C", "start": 3271 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535985.1:c.3207C>G" ], "proteinEffect": { "hgvs": "XP_011534287.1:p.Tyr1069Ter", "hgvsWellDefined": "XP_011534287.1:p.Tyr1069_Leu1922delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102987" }, { "coordinates": [ { "allele": "G", "end": 2997, "referenceAllele": "C", "start": 2996 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535986.1:c.2967C>G" ], "proteinEffect": { "hgvs": "XP_011534288.1:p.Tyr989Ter", "hgvsWellDefined": "XP_011534288.1:p.Tyr989_Leu1842delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102988" }, { "coordinates": [ { "allele": "G", "end": 2601, "referenceAllele": "C", "start": 2600 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535987.1:c.2586C>G" ], "proteinEffect": { "hgvs": "XP_011534289.1:p.Tyr862Ter", "hgvsWellDefined": "XP_011534289.1:p.Tyr862_Leu1715delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102989" }, { "coordinates": [ { "allele": "G", "end": 1548, "referenceAllele": "C", "start": 1547 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.1:c.1449C>G" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Tyr483Ter", "hgvsWellDefined": "XP_011534290.1:p.Tyr483_Leu1336delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102990" }, { "@id": "http://reg.genome.network/allele/PA2827385628", "coordinates": [ { "allele": "G", "end": 4383, "referenceAllele": "C", "start": 4382 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001346813.1:c.4308C>G" ], "proteinEffect": { "hgvs": "NP_001333742.1:p.Tyr1436Ter", "hgvsWellDefined": "NP_001333742.1:p.Tyr1436_Leu2289delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517678" }, { "@id": "http://reg.genome.network/allele/PA1139741865", "coordinates": [ { "allele": "G", "end": 2452, "referenceAllele": "C", "start": 2451 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.1:c.2058C>G" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Tyr686Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523510" }, { "coordinates": [ { "allele": "G", "end": 4594, "referenceAllele": "C", "start": 4593 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.2:c.4518C>G" ], "proteinEffect": { "hgvs": "XP_011534286.2:p.Tyr1506Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552267" }, { "coordinates": [ { "allele": "G", "end": 1537, "referenceAllele": "C", "start": 1536 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.3:c.1449C>G" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Tyr483Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552268" }, { "coordinates": [ { "allele": "G", "end": 4495, "referenceAllele": "C", "start": 4494 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011103.2:c.4419C>G" ], "proteinEffect": { "hgvs": "XP_016866592.1:p.Tyr1473Ter", "hgvsWellDefined": "XP_016866592.1:p.Tyr1473_Leu2326delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565022" }, { "coordinates": [ { "allele": "G", "end": 4464, "referenceAllele": "C", "start": 4463 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011104.1:c.4389C>G" ], "proteinEffect": { "hgvs": "XP_016866593.1:p.Tyr1463Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565023" }, { "coordinates": [ { "allele": "G", "end": 4435, "referenceAllele": "C", "start": 4434 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011105.2:c.4359C>G" ], "proteinEffect": { "hgvs": "XP_016866594.1:p.Tyr1453Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565024" }, { "coordinates": [ { "allele": "G", "end": 4305, "referenceAllele": "C", "start": 4304 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011106.2:c.4230C>G" ], "proteinEffect": { "hgvs": "XP_016866595.1:p.Tyr1410Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565025" }, { "coordinates": [ { "allele": "G", "end": 4285, "referenceAllele": "C", "start": 4284 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011107.2:c.4209C>G" ], "proteinEffect": { "hgvs": "XP_016866596.1:p.Tyr1403Ter", "hgvsWellDefined": "XP_016866596.1:p.Tyr1403_Leu2256delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565026" }, { "coordinates": [ { "allele": "G", "end": 4504, "referenceAllele": "C", "start": 4503 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XR_002956289.1:n.4504C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602451" }, { "@id": "http://reg.genome.network/allele/PA1139741865", "coordinates": [ { "allele": "G", "end": 2447, "referenceAllele": "C", "start": 2446 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.2:c.2058C>G" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Tyr686Ter", "hgvsWellDefined": "NP_001350654.1:p.Tyr686_Leu1539delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690754" }, { "@id": "http://reg.genome.network/allele/PA2828448553", "coordinates": [ { "allele": "G", "end": 5357, "referenceAllele": "C", "start": 5356 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001371656.1:c.4437C>G" ], "proteinEffect": { "hgvs": "NP_001358585.1:p.Tyr1479Ter", "hgvsWellDefined": "NP_001358585.1:p.Tyr1479_Leu2332delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693001" }, { "@id": "http://reg.genome.network/allele/PA2828553635", "coordinates": [ { "allele": "G", "end": 4740, "referenceAllele": "C", "start": 4739 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374820.1:c.4437C>G" ], "proteinEffect": { "hgvs": "NP_001361749.1:p.Tyr1479Ter", "hgvsWellDefined": "NP_001361749.1:p.Tyr1479_Leu2332delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693382" }, { "@id": "http://reg.genome.network/allele/PA2828555429", "coordinates": [ { "allele": "G", "end": 4860, "referenceAllele": "C", "start": 4859 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374828.1:c.4557C>G" ], "proteinEffect": { "hgvs": "NP_001361757.1:p.Tyr1519Ter", "hgvsWellDefined": "NP_001361757.1:p.Tyr1519_Leu2372delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693389", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4557C>G" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4557C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Tyr1519Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Tyr1519Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829868964", "coordinates": [ { "allele": "G", "end": 4701, "referenceAllele": "C", "start": 4700 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.3:c.4398C>G" ], "proteinEffect": { "hgvs": "NP_059989.3:p.Tyr1466Ter", "hgvsWellDefined": "NP_059989.3:p.Tyr1466_Leu2319delinsSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697814" } ], "type": "nucleotide" }