{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10602933", "communityStandardTitle": [ "NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264204[alleleid]", "alleleId": 264204, "preferredName": "NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280708", "RCV": [ "RCV000276336", "RCV001807205" ], "variationId": 280708 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157527613C>T?assembly=hg19", "id": "chr6:g.157527613C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157206479C>T?assembly=hg38", "id": "chr6:g.157206479C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/750447037", "rs": 750447037 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157206479, "referenceAllele": "C", "start": 157206478 } ], "hgvs": [ "NC_000006.12:g.157206479C>T", "CM000668.2:g.157206479C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157527613, "referenceAllele": "C", "start": 157527612 } ], "hgvs": [ "NC_000006.11:g.157527613C>T", "CM000668.1:g.157527613C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157569305, "referenceAllele": "C", "start": 157569304 } ], "hgvs": [ "NC_000006.10:g.157569305C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 433550, "referenceAllele": "C", "start": 433549 } ], "hgvs": [ "NG_032093.1:g.433550C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005122" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS913972" }, { "coordinates": [ { "allele": "T", "end": 5617, "referenceAllele": "C", "start": 5616 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.8:c.5617C>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.3:p.Gln1873Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914032" }, { "coordinates": [ { "allele": "T", "end": 5836, "referenceAllele": "C", "start": 5835 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637015.2:c.5836C>T" ], "proteinEffect": { "hgvs": "ENSP00000489729.2:p.Gln1946Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS906363" }, { "coordinates": [ { "allele": "T", "end": 6513, "referenceAllele": "C", "start": 6512 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.10:c.5587C>T" ], "proteinEffect": { "hgvs": "ENSP00000344546.5:p.Gln1863Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748305" }, { "coordinates": [ { "allele": "T", "end": 5299, "referenceAllele": "C", "start": 5298 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.10:c.5299C>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Gln1767Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748423" }, { "coordinates": [ { "allele": "T", "end": 3865, "referenceAllele": "C", "start": 3864 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.7:c.3865C>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Gln1289Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754582" }, { "coordinates": [ { "allele": "T", "end": 3615, "referenceAllele": "C", "start": 3614 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635849.1:c.3028C>T" ], "proteinEffect": { "hgvs": "ENSP00000490948.1:p.Gln1010Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764126" }, { "coordinates": [ { "allele": "T", "end": 3709, "referenceAllele": "C", "start": 3708 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637904.1:c.3208C>T" ], "proteinEffect": { "hgvs": "ENSP00000490550.1:p.Gln1070Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS764197" }, { "coordinates": [ { "allele": "T", "end": 2822, "referenceAllele": "C", "start": 2821 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637933.1:n.2822C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764218" }, { "coordinates": [ { "allele": "T", "end": 5338, "referenceAllele": "C", "start": 5337 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000647938.1:c.5338C>T" ], "proteinEffect": { "hgvs": "ENSP00000498155.1:p.Gln1780Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262224" }, { "coordinates": [ { "allele": "T", "end": 5300, "referenceAllele": "C", "start": 5299 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.9:c.5299C>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Gln1767Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS262649" }, { "coordinates": [ { "allele": "T", "end": 3865, "referenceAllele": "C", "start": 3864 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.6:c.3865C>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Gln1289Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS283628" }, { "coordinates": [ { "allele": "T", "end": 5299, "referenceAllele": "C", "start": 5298 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.2:c.5299C>T" ], "proteinEffect": { "hgvs": "NP_059989.2:p.Gln1767Ter", "hgvsWellDefined": "NP_059989.2:p.Gln1767_Leu2236delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034978" }, { "@id": "http://reg.genome.network/allele/PA2829951336", "coordinates": [ { "allele": "T", "end": 5338, "referenceAllele": "C", "start": 5337 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_020732.3:c.5338C>T" ], "proteinEffect": { "hgvs": "NP_065783.3:p.Gln1780Ter", "hgvsWellDefined": "NP_065783.3:p.Gln1780_Leu2249delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036539" }, { "coordinates": [ { "allele": "T", "end": 5496, "referenceAllele": "C", "start": 5495 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_005267069.3:c.5458C>T" ], "proteinEffect": { "hgvs": "XP_005267126.2:p.Gln1820Ter", "hgvsWellDefined": "XP_005267126.2:p.Gln1820_Leu2289delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065283" }, { "coordinates": [ { "allele": "T", "end": 4633, "referenceAllele": "C", "start": 4632 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.1:c.4537C>T" ], "proteinEffect": { "hgvs": "XP_011534286.1:p.Gln1513Ter", "hgvsWellDefined": "XP_011534286.1:p.Gln1513_Leu1982delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102986" }, { "coordinates": [ { "allele": "T", "end": 4422, "referenceAllele": "C", "start": 4421 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535985.1:c.4357C>T" ], "proteinEffect": { "hgvs": "XP_011534287.1:p.Gln1453Ter", "hgvsWellDefined": "XP_011534287.1:p.Gln1453_Leu1922delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102987" }, { "coordinates": [ { "allele": "T", "end": 4147, "referenceAllele": "C", "start": 4146 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535986.1:c.4117C>T" ], "proteinEffect": { "hgvs": "XP_011534288.1:p.Gln1373Ter", "hgvsWellDefined": "XP_011534288.1:p.Gln1373_Leu1842delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102988" }, { "coordinates": [ { "allele": "T", "end": 3751, "referenceAllele": "C", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535987.1:c.3736C>T" ], "proteinEffect": { "hgvs": "XP_011534289.1:p.Gln1246Ter", "hgvsWellDefined": "XP_011534289.1:p.Gln1246_Leu1715delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102989" }, { "coordinates": [ { "allele": "T", "end": 2698, "referenceAllele": "C", "start": 2697 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.1:c.2599C>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Gln867Ter", "hgvsWellDefined": "XP_011534290.1:p.Gln867_Leu1336delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102990" }, { "@id": "http://reg.genome.network/allele/PA891866258", "coordinates": [ { "allele": "T", "end": 5533, "referenceAllele": "C", "start": 5532 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001346813.1:c.5458C>T" ], "proteinEffect": { "hgvs": "NP_001333742.1:p.Gln1820Ter", "hgvsWellDefined": "NP_001333742.1:p.Gln1820_Leu2289delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517678" }, { "@id": "http://reg.genome.network/allele/PA2828106120", "coordinates": [ { "allele": "T", "end": 3602, "referenceAllele": "C", "start": 3601 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.1:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Gln1070Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523510" }, { "coordinates": [ { "allele": "T", "end": 5744, "referenceAllele": "C", "start": 5743 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.2:c.5668C>T" ], "proteinEffect": { "hgvs": "XP_011534286.2:p.Gln1890Ter", "hgvsWellDefined": "XP_011534286.2:p.Gln1890_Leu2359delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552267" }, { "coordinates": [ { "allele": "T", "end": 2687, "referenceAllele": "C", "start": 2686 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.3:c.2599C>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Gln867Ter", "hgvsWellDefined": "XP_011534290.1:p.Gln867_Leu1336delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552268" }, { "coordinates": [ { "allele": "T", "end": 5645, "referenceAllele": "C", "start": 5644 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011103.2:c.5569C>T" ], "proteinEffect": { "hgvs": "XP_016866592.1:p.Gln1857Ter", "hgvsWellDefined": "XP_016866592.1:p.Gln1857_Leu2326delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565022" }, { "coordinates": [ { "allele": "T", "end": 5614, "referenceAllele": "C", "start": 5613 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011104.1:c.5539C>T" ], "proteinEffect": { "hgvs": "XP_016866593.1:p.Gln1847Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565023" }, { "coordinates": [ { "allele": "T", "end": 5585, "referenceAllele": "C", "start": 5584 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011105.2:c.5509C>T" ], "proteinEffect": { "hgvs": "XP_016866594.1:p.Gln1837Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565024" }, { "coordinates": [ { "allele": "T", "end": 5455, "referenceAllele": "C", "start": 5454 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011106.2:c.5380C>T" ], "proteinEffect": { "hgvs": "XP_016866595.1:p.Gln1794Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565025" }, { "coordinates": [ { "allele": "T", "end": 5435, "referenceAllele": "C", "start": 5434 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011107.2:c.5359C>T" ], "proteinEffect": { "hgvs": "XP_016866596.1:p.Gln1787Ter", "hgvsWellDefined": "XP_016866596.1:p.Gln1787_Leu2256delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565026" }, { "coordinates": [ { "allele": "T", "end": 5654, "referenceAllele": "C", "start": 5653 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XR_002956289.1:n.5654C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602451" }, { "@id": "http://reg.genome.network/allele/PA2828106120", "coordinates": [ { "allele": "T", "end": 3597, "referenceAllele": "C", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.2:c.3208C>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Gln1070Ter", "hgvsWellDefined": "NP_001350654.1:p.Gln1070_Leu1539delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690754" }, { "@id": "http://reg.genome.network/allele/PA2828449006", "coordinates": [ { "allele": "T", "end": 6507, "referenceAllele": "C", "start": 6506 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001371656.1:c.5587C>T" ], "proteinEffect": { "hgvs": "NP_001358585.1:p.Gln1863Ter", "hgvsWellDefined": "NP_001358585.1:p.Gln1863_Leu2332delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693001" }, { "@id": "http://reg.genome.network/allele/PA2828553864", "coordinates": [ { "allele": "T", "end": 5890, "referenceAllele": "C", "start": 5889 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374820.1:c.5587C>T" ], "proteinEffect": { "hgvs": "NP_001361749.1:p.Gln1863Ter", "hgvsWellDefined": "NP_001361749.1:p.Gln1863_Leu2332delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693382" }, { "@id": "http://reg.genome.network/allele/PA2573073342", "coordinates": [ { "allele": "T", "end": 6010, "referenceAllele": "C", "start": 6009 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374828.1:c.5707C>T" ], "proteinEffect": { "hgvs": "NP_001361757.1:p.Gln1903Ter", "hgvsWellDefined": "NP_001361757.1:p.Gln1903_Leu2372delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693389", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.5707C>T" }, "RefSeq": { "hgvs": "NM_001374828.1:c.5707C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Gln1903Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Gln1903Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829869337", "coordinates": [ { "allele": "T", "end": 5851, "referenceAllele": "C", "start": 5850 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.3:c.5548C>T" ], "proteinEffect": { "hgvs": "NP_059989.3:p.Gln1850Ter", "hgvsWellDefined": "NP_059989.3:p.Gln1850_Leu2319delinsAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697814" } ], "type": "nucleotide" }