{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366240795", "communityStandardTitle": [ "NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691429[alleleid]", "alleleId": 1691429, "preferredName": "NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1699055", "RCV": [ "RCV002272912" ], "variationId": 1699055 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157521881A>T?assembly=hg19", "id": "chr6:g.157521881A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157200747A>T?assembly=hg38", "id": "chr6:g.157200747A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554235505", "rs": 1554235505 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157200747, "referenceAllele": "A", "start": 157200746 } ], "hgvs": [ "NC_000006.12:g.157200747A>T", "CM000668.2:g.157200747A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157521881, "referenceAllele": "A", "start": 157521880 } ], "hgvs": [ "NC_000006.11:g.157521881A>T", "CM000668.1:g.157521881A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 157563573, "referenceAllele": "A", "start": 157563572 } ], "hgvs": [ "NC_000006.10:g.157563573A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "T", "end": 427818, "referenceAllele": "A", "start": 427817 } ], "hgvs": [ "NG_032093.1:g.427818A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005122" }, { "coordinates": [ { "allele": "T", "end": 427818, "referenceAllele": "A", "start": 427817 } ], "hgvs": [ "NG_032093.2:g.427818A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616333" }, { "coordinates": [ { "allele": "T", "end": 429722, "referenceAllele": "A", "start": 429721 } ], "hgvs": [ "NG_066624.1:g.429722A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS706193" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4363, "referenceAllele": "A", "start": 4362 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.11:c.4363A>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.8:p.Lys1455Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS913972" }, { "coordinates": [ { "allele": "T", "end": 4432, "referenceAllele": "A", "start": 4431 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.8:c.4432A>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.3:p.Lys1478Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914032" }, { "coordinates": [ { "allele": "T", "end": 4651, "referenceAllele": "A", "start": 4650 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637015.2:c.4651A>T" ], "proteinEffect": { "hgvs": "ENSP00000489729.2:p.Lys1551Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS906363" }, { "coordinates": [ { "allele": "T", "end": 5328, "referenceAllele": "A", "start": 5327 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.10:c.4402A>T" ], "proteinEffect": { "hgvs": "ENSP00000344546.5:p.Lys1468Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748305" }, { "coordinates": [ { "allele": "T", "end": 4114, "referenceAllele": "A", "start": 4113 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.10:c.4114A>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Lys1372Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748423" }, { "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "A", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.7:c.2680A>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Lys894Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS754582" }, { "coordinates": [ { "allele": "T", "end": 2430, "referenceAllele": "A", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635849.1:c.1843A>T" ], "proteinEffect": { "hgvs": "ENSP00000490948.1:p.Lys615Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762681" }, { "coordinates": [ { "allele": "T", "end": 1474, "referenceAllele": "A", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000635957.1:c.1474A>T" ], "proteinEffect": { "hgvs": "ENSP00000490385.1:p.Lys492Ter", "hgvsWellDefined": "ENSP00000490385.1:p.Lys492Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS762765" }, { "coordinates": [ { "allele": "T", "end": 2985, "referenceAllele": "A", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636227.1:n.2985A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762967" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "A", "start": 441 } ], "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.4522A>T" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4522A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Lys1508Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Lys1508Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2519, "referenceAllele": "A", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000636940.1:n.2519A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763493" }, { "coordinates": [ { "allele": "T", "end": 1890, "referenceAllele": "A", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637015.1:c.1890A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763546" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "A", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637568.1:c.1804A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS763952" }, { "coordinates": [ { "allele": "T", "end": 1188, "referenceAllele": "A", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637741.1:n.1188A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764077" }, { "coordinates": [ { "allele": "T", "end": 2006, "referenceAllele": "A", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637810.1:c.1864A>T" ], "proteinEffect": { "hgvs": "ENSP00000489636.1:p.Lys622Ter", "hgvsWellDefined": "ENSP00000489636.1:p.Lys622_Leu1486delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764126" }, { "coordinates": [ { "allele": "T", "end": 2524, "referenceAllele": "A", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000637904.1:c.2023A>T" ], "proteinEffect": { "hgvs": "ENSP00000490550.1:p.Lys675Ter", "hgvsWellDefined": "ENSP00000490550.1:p.Lys675_Leu1539delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764197" }, { "coordinates": [ { "allele": "T", "end": 4153, "referenceAllele": "A", "start": 4152 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000647938.1:c.4153A>T" ], "proteinEffect": { "hgvs": "ENSP00000498155.1:p.Lys1385Ter", "hgvsWellDefined": "ENSP00000498155.1:p.Lys1385_Leu2249delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769702" }, { "coordinates": [ { "allele": "T", "end": 4709, "referenceAllele": "A", "start": 4708 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.9:c.4153A>T" ], "proteinEffect": { "hgvs": "ENSP00000344546.4:p.Lys1385Ter", "hgvsWellDefined": "ENSP00000344546.4:p.Lys1385_Leu2249delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262224" }, { "coordinates": [ { "allele": "T", "end": 4115, "referenceAllele": "A", "start": 4114 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.9:c.4114A>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Lys1372Ter", "hgvsWellDefined": "ENSP00000055163.7:p.Lys1372_Leu2236delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262649" }, { "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "A", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000414678.6:c.2680A>T" ], "proteinEffect": { "hgvs": "ENSP00000412835.2:p.Lys894Ter", "hgvsWellDefined": "ENSP00000412835.2:p.Lys894_Leu1758delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283628" }, { "coordinates": [ { "allele": "T", "end": 4114, "referenceAllele": "A", "start": 4113 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.2:c.4114A>T" ], "proteinEffect": { "hgvs": "NP_059989.2:p.Lys1372Ter", "hgvsWellDefined": "NP_059989.2:p.Lys1372_Leu2236delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034978" }, { "coordinates": [ { "allele": "T", "end": 4153, "referenceAllele": "A", "start": 4152 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_020732.3:c.4153A>T" ], "proteinEffect": { "hgvs": "NP_065783.3:p.Lys1385Ter", "hgvsWellDefined": "NP_065783.3:p.Lys1385_Leu2249delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036539" }, { "coordinates": [ { "allele": "T", "end": 4311, "referenceAllele": "A", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_005267069.3:c.4273A>T" ], "proteinEffect": { "hgvs": "XP_005267126.2:p.Lys1425Ter", "hgvsWellDefined": "XP_005267126.2:p.Lys1425_Leu2289delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065283" }, { "coordinates": [ { "allele": "T", "end": 3448, "referenceAllele": "A", "start": 3447 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.1:c.3352A>T" ], "proteinEffect": { "hgvs": "XP_011534286.1:p.Lys1118Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102986" }, { "coordinates": [ { "allele": "T", "end": 3237, "referenceAllele": "A", "start": 3236 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535985.1:c.3172A>T" ], "proteinEffect": { "hgvs": "XP_011534287.1:p.Lys1058Ter", "hgvsWellDefined": "XP_011534287.1:p.Lys1058_Leu1922delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102987" }, { "coordinates": [ { "allele": "T", "end": 2962, "referenceAllele": "A", "start": 2961 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535986.1:c.2932A>T" ], "proteinEffect": { "hgvs": "XP_011534288.1:p.Lys978Ter", "hgvsWellDefined": "XP_011534288.1:p.Lys978_Leu1842delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102988" }, { "coordinates": [ { "allele": "T", "end": 2566, "referenceAllele": "A", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535987.1:c.2551A>T" ], "proteinEffect": { "hgvs": "XP_011534289.1:p.Lys851Ter", "hgvsWellDefined": "XP_011534289.1:p.Lys851_Leu1715delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102989" }, { "coordinates": [ { "allele": "T", "end": 1513, "referenceAllele": "A", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.1:c.1414A>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Lys472Ter", "hgvsWellDefined": "XP_011534290.1:p.Lys472_Leu1336delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS102990" }, { "coordinates": [ { "allele": "T", "end": 4348, "referenceAllele": "A", "start": 4347 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001346813.1:c.4273A>T" ], "proteinEffect": { "hgvs": "NP_001333742.1:p.Lys1425Ter", "hgvsWellDefined": "NP_001333742.1:p.Lys1425_Leu2289delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517678" }, { "@id": "http://reg.genome.network/allele/PA2580218527", "coordinates": [ { "allele": "T", "end": 2417, "referenceAllele": "A", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.1:c.2023A>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Lys675Ter", "hgvsWellDefined": "NP_001350654.1:p.Lys675_Leu1539delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523510" }, { "coordinates": [ { "allele": "T", "end": 4559, "referenceAllele": "A", "start": 4558 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.2:c.4483A>T" ], "proteinEffect": { "hgvs": "XP_011534286.2:p.Lys1495Ter", "hgvsWellDefined": "XP_011534286.2:p.Lys1495_Leu2359delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552267" }, { "coordinates": [ { "allele": "T", "end": 1502, "referenceAllele": "A", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.3:c.1414A>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Lys472Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS552268" }, { "coordinates": [ { "allele": "T", "end": 4460, "referenceAllele": "A", "start": 4459 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011103.2:c.4384A>T" ], "proteinEffect": { "hgvs": "XP_016866592.1:p.Lys1462Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565022" }, { "coordinates": [ { "allele": "T", "end": 4429, "referenceAllele": "A", "start": 4428 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011104.1:c.4354A>T" ], "proteinEffect": { "hgvs": "XP_016866593.1:p.Lys1452Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565023" }, { "coordinates": [ { "allele": "T", "end": 4400, "referenceAllele": "A", "start": 4399 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011105.2:c.4324A>T" ], "proteinEffect": { "hgvs": "XP_016866594.1:p.Lys1442Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565024" }, { "coordinates": [ { "allele": "T", "end": 4270, "referenceAllele": "A", "start": 4269 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011106.2:c.4195A>T" ], "proteinEffect": { "hgvs": "XP_016866595.1:p.Lys1399Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565025" }, { "coordinates": [ { "allele": "T", "end": 4250, "referenceAllele": "A", "start": 4249 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_017011107.2:c.4174A>T" ], "proteinEffect": { "hgvs": "XP_016866596.1:p.Lys1392Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565026" }, { "coordinates": [ { "allele": "T", "end": 4469, "referenceAllele": "A", "start": 4468 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XR_002956289.1:n.4469A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602451" }, { "@id": "http://reg.genome.network/allele/PA2580218527", "coordinates": [ { "allele": "T", "end": 2412, "referenceAllele": "A", "start": 2411 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.2:c.2023A>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Lys675Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS690754" }, { "@id": "http://reg.genome.network/allele/PA2828448536", "coordinates": [ { "allele": "T", "end": 5322, "referenceAllele": "A", "start": 5321 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001371656.1:c.4402A>T" ], "proteinEffect": { "hgvs": "NP_001358585.1:p.Lys1468Ter", "hgvsWellDefined": "NP_001358585.1:p.Lys1468_Leu2332delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693001" }, { "@id": "http://reg.genome.network/allele/PA2828553625", "coordinates": [ { "allele": "T", "end": 4705, "referenceAllele": "A", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374820.1:c.4402A>T" ], "proteinEffect": { "hgvs": "NP_001361749.1:p.Lys1468Ter", "hgvsWellDefined": "NP_001361749.1:p.Lys1468_Leu2332delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693382" }, { "@id": "http://reg.genome.network/allele/PA2828555420", "coordinates": [ { "allele": "T", "end": 4825, "referenceAllele": "A", "start": 4824 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374828.1:c.4522A>T" ], "proteinEffect": { "hgvs": "NP_001361757.1:p.Lys1508Ter", "hgvsWellDefined": "NP_001361757.1:p.Lys1508_Leu2372delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693389", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4522A>T" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4522A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Lys1508Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Lys1508Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829868951", "coordinates": [ { "allele": "T", "end": 4666, "referenceAllele": "A", "start": 4665 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.3:c.4363A>T" ], "proteinEffect": { "hgvs": "NP_059989.3:p.Lys1455Ter", "hgvsWellDefined": "NP_059989.3:p.Lys1455_Leu2319delinsArgHisGluGlyAspMetTyrAsnMetGlnTyrSerSerGlnGlnGlnGluMetTyrAsnGlnTyrGlyGlySerTyrSerGlyProAspArgArgProIleGlnGlyGlnTyrProTyrProTyrSerArgGluArgMetGlnGlyProGlyGlnIleGlnThrHisGlyIleProProGlnMetMetGlyGlyProLeuGlnSerSerSerSerGluGlyProGlnGlnAsnMetTrpAlaAlaArgAsnAspMetProTyrProTyrGlnAsnArgGlnGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697814" } ], "type": "nucleotide" }