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"ENSP00000478219.1:p.Ser127_Asp354delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400360" }, { "coordinates": [ { "allele": "G", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ 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"proteinEffect": { "hgvs": "ENSP00000477531.1:p.Ser7Ter", "hgvsWellDefined": "ENSP00000477531.1:p.Ser7_Ser187delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS400503" }, { "coordinates": [ { "allele": "G", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000615910.4:c.464C>G" ], "proteinEffect": { "hgvs": 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"geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000617185.4:c.497C>G" ], "proteinEffect": { "hgvs": "ENSP00000482258.1:p.Ser166Ter", "hgvsWellDefined": "ENSP00000482258.1:p.Ser166_Cys341delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403371" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ 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"referenceSequence": "http://reg.genome.network/refseq/RS404959" }, { "coordinates": [ { "allele": "G", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000622645.4:c.380C>G" ], "proteinEffect": { "hgvs": "ENSP00000482222.1:p.Ser127Ter", "hgvsWellDefined": "ENSP00000482222.1:p.Ser127_Cys302delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS405818" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "ENST00000635293.1:c.380C>G" ], "proteinEffect": { "hgvs": "ENSP00000488924.1:p.Ser127Ter", "hgvsWellDefined": "ENSP00000488924.1:p.Ser127_Ile410delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerArgGluCysGlnThrLeuSerProGlyAspProAspProProLeuSerGluThrPheAsnLeuAsnIleCysProTyrProAlaGlyLysLeuGluLeuLeuLysLeuSerProCysProCysLeuCysArgGlnValThrLeuMetSerPheLeuPhePhePheLeuIlePhePheTyrPheArgLeuTyrTrpGlyIleIleAspProProLysLeuHisThrPheLysValCysSerValMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS408095" }, { "@id": "http://reg.genome.network/allele/PA2579935915", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_000546.5:c.497C>G", "LRG_321t1:c.497C>G" ], "proteinEffect": { "hgvs": "NP_000537.3:p.Ser166Ter", "hgvsWellDefined": "NP_000537.3:p.Ser166_Asp393delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006605" }, { "@id": "http://reg.genome.network/allele/PA2825599924", "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN011998", 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"http://reg.genome.network/allele/PA2825604022", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126113.2:c.497C>G", "LRG_321t4:c.497C>G" ], "proteinEffect": { "hgvs": "NP_001119585.1:p.Ser166Ter", "hgvsWellDefined": "NP_001119585.1:p.Ser166_Ser346delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011491" }, { "@id": "http://reg.genome.network/allele/PA2825607493", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126114.2:c.497C>G", "LRG_321t3:c.497C>G" ], "proteinEffect": { "hgvs": "NP_001119586.1:p.Ser166Ter", "hgvsWellDefined": "NP_001119586.1:p.Ser166_Cys341delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011492" }, { "@id": "http://reg.genome.network/allele/PA2825609900", "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126115.1:c.101C>G", "LRG_321t5:c.101C>G" ], "proteinEffect": { "hgvs": "NP_001119587.1:p.Ser34Ter", "hgvsWellDefined": 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"geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126116.1:c.101C>G", "LRG_321t6:c.101C>G" ], "proteinEffect": { "hgvs": "NP_001119588.1:p.Ser34Ter", "hgvsWellDefined": "NP_001119588.1:p.Ser34_Cys209delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011494" }, { "@id": "http://reg.genome.network/allele/PA913199764", "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126117.1:c.101C>G", "LRG_321t7:c.101C>G" ], "proteinEffect": { "hgvs": "NP_001119589.1:p.Ser34Ter", "hgvsWellDefined": "NP_001119589.1:p.Ser34_Ser214delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011495" }, { "@id": "http://reg.genome.network/allele/PA2825617664", "coordinates": [ { "allele": "G", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001126118.1:c.380C>G", "LRG_321t8:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001119590.1:p.Ser127Ter", "hgvsWellDefined": "NP_001119590.1:p.Ser127_Asp354delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011496" }, { "@id": "http://reg.genome.network/allele/PA2826559497", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.1:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263624.1:p.Ser127_Ser307delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020927" }, { "@id": "http://reg.genome.network/allele/PA2826560954", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.1:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263625.1:p.Ser127_Cys302delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020928" }, { "@id": "http://reg.genome.network/allele/PA2826561862", "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.1:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263626.1:p.Ser7_Asp234delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020929" }, { "@id": "http://reg.genome.network/allele/PA2826562985", "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.1:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263627.1:p.Ser7_Cys182delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020930" }, { "@id": "http://reg.genome.network/allele/PA916006236", "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "C", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.1:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263628.1:p.Ser7_Ser187delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020931" }, { "@id": "http://reg.genome.network/allele/PA2826565347", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.1:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263689.1:p.Ser127_Asp354delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020942" }, { "@id": "http://reg.genome.network/allele/PA2826566861", "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.1:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263690.1:p.Ser127_Asp354delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020943" }, { "@id": "http://reg.genome.network/allele/PA2826559497", "coordinates": [ { "allele": "G", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276695.2:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263624.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263624.1:p.Ser127_Ser307delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681331" }, { "@id": "http://reg.genome.network/allele/PA2826560954", "coordinates": [ { "allele": "G", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": 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"http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.2:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263626.1:p.Ser7_Asp234delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681333" }, { "@id": 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"http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276696.3:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263625.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263625.1:p.Ser127_Cys302delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715406" }, { "@id": "http://reg.genome.network/allele/PA2826561862", "coordinates": [ { "allele": "G", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276697.3:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263626.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263626.1:p.Ser7_Asp234delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715407" }, { "@id": "http://reg.genome.network/allele/PA2826562985", "coordinates": [ { "allele": "G", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276698.3:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263627.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263627.1:p.Ser7_Cys182delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnAspGlnThrSerPheGlnLysGluAsnCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715408" }, { "@id": "http://reg.genome.network/allele/PA916006236", "coordinates": [ { "allele": "G", "end": 130, "referenceAllele": "C", "start": 129 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276699.3:c.20C>G" ], "proteinEffect": { "hgvs": "NP_001263628.1:p.Ser7Ter", "hgvsWellDefined": "NP_001263628.1:p.Ser7_Ser187delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnMetLeuLeuAspLeuArgTrpCysTyrPheLeuIleAsnSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715409" }, { "@id": "http://reg.genome.network/allele/PA2826565347", "coordinates": [ { "allele": "G", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276760.3:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263689.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263689.1:p.Ser127_Asp354delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715416" }, { "@id": "http://reg.genome.network/allele/PA2826566861", "coordinates": [ { "allele": "G", "end": 636, "referenceAllele": "C", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN011998", "geneNCBI_id": 7157, "geneSymbol": "TP53", "hgvs": [ "NM_001276761.3:c.380C>G" ], "proteinEffect": { "hgvs": "NP_001263690.1:p.Ser127Ter", "hgvsWellDefined": "NP_001263690.1:p.Ser127_Asp354delinsGlnHisMetThrGluValValArgArgCysProHisHisGluArgCysSerAspSerAspGlyLeuAlaProProGlnHisLeuIleArgValGluGlyAsnLeuArgValGluTyrLeuAspAspArgAsnThrPheArgHisSerValValValProTyrGluProProGluValGlySerAspCysThrThrIleHisTyrAsnTyrMetCysAsnSerSerCysMetGlyGlyMetAsnArgArgProIleLeuThrIleIleThrLeuGluAspSerSerGlyAsnLeuLeuGlyArgAsnSerPheGluValArgValCysAlaCysProGlyArgAspArgArgThrGluGluGluAsnLeuArgLysLysGlyGluProHisHisGluLeuProProGlySerThrLysArgAlaLeuProAsnAsnThrSerSerSerProGlnProLysLysLysProLeuAspGlyGluTyrPheThrLeuGlnIleArgGlyArgGluArgPheGluMetPheArgGluLeuAsnGluAlaLeuGluLeuLysAspAlaGlnAlaGlyLysGluProGlyGlySerArgAlaHisSerSerHisLeuLysSerLysLysGlyGlnSerThrSerArgHisLysLysLeuMetPheLysThrGluGlyProAspSerAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715417" } ], "type": "nucleotide" }