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}, "referenceSequence": "http://reg.genome.network/refseq/RS775490" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000354452.7:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000346440.3:p.Gln218Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS263131" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000356073.8:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000348374.4:p.Gln218Ter", "hgvsWellDefined": "ENSP00000348374.4:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263636" }, { "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000398339.5:c.958C>T" ], "proteinEffect": { "hgvs": "ENSP00000381382.1:p.Gln320Ter", "hgvsWellDefined": "ENSP00000381382.1:p.Gln320_Met773delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278231" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000457482.7:c.172C>T" ], "proteinEffect": { "hgvs": "ENSP00000409447.2:p.Gln58Ter", "hgvsWellDefined": "ENSP00000409447.2:p.Gln58_Met511delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303973" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537578.5:c.580C>T" ], "proteinEffect": { "hgvs": "ENSP00000440731.1:p.Gln194Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS360846" }, { "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "C", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537856.7:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000439827.2:p.Gln88Ter", "hgvsWellDefined": "ENSP00000439827.2:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360997" }, { "coordinates": [ { "allele": "T", "end": 875, "referenceAllele": "C", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000540999.5:c.580C>T" ], "proteinEffect": { "hgvs": "ENSP00000445202.1:p.Gln194Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS362707" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000543082.5:c.526C>T" ], "proteinEffect": { "hgvs": "ENSP00000439656.1:p.Gln176Ter", "hgvsWellDefined": "ENSP00000439656.1:p.Gln176_Met625delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363812" }, { "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000544241.6:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000441562.2:p.Gln147Ter", "hgvsWellDefined": "ENSP00000441562.2:p.Gln147_Met600delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364455" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561831.7:c.172C>T" ], "proteinEffect": { "hgvs": "ENSP00000457765.1:p.Gln58Ter", "hgvsWellDefined": "ENSP00000457765.1:p.Gln58_Met507delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS376381" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561992.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000455179.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000455179.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS376488" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562030.3:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000456220.2:p.Gln88Ter", "hgvsWellDefined": "ENSP00000456220.2:p.Gln88Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS376512" }, { "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562607.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000455071.2:p.Gln88Ter", "hgvsWellDefined": "ENSP00000455071.2:p.Gln88_Ser164del" }, "referenceSequence": "http://reg.genome.network/refseq/RS376899" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562638.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000456802.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000456802.1:p.Gln88_Pro119del" }, "referenceSequence": "http://reg.genome.network/refseq/RS376919" }, { "coordinates": [ { "allele": "T", "end": 743, "referenceAllele": "C", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562680.5:n.743C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS376940" }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000563686.5:n.507C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377592" }, { "coordinates": [ { "allele": "T", "end": 244, "referenceAllele": "C", "start": 243 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000563760.5:n.244C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377634" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564228.5:c.439C>T" ], "proteinEffect": { "hgvs": "ENSP00000455261.1:p.Gln147Ter", "hgvsWellDefined": "ENSP00000455261.1:p.Gln147_Met596delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377953" }, { "coordinates": [ { "allele": "T", "end": 1233, "referenceAllele": "C", "start": 1232 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564403.6:c.670C>T" ], "proteinEffect": { "hgvs": "ENSP00000457263.1:p.Gln224Ter", "hgvsWellDefined": "ENSP00000457263.1:p.Gln224_Met677delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378069" }, { "coordinates": [ { "allele": "T", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564999.5:c.652C>T" ], "proteinEffect": { "hgvs": "ENSP00000457649.1:p.Gln218Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS378480" }, { "coordinates": [ { "allele": "T", "end": 881, "referenceAllele": "C", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000565018.6:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000455984.2:p.Gln134Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS378492" }, { "coordinates": [ { "allele": "T", "end": 401, "referenceAllele": "C", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000565580.3:n.401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS378847" }, { "coordinates": [ { "allele": "T", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000565908.6:c.580C>T" ], "proteinEffect": { "hgvs": "ENSP00000454584.2:p.Gln194Ter", "hgvsWellDefined": "ENSP00000454584.2:p.Gln194Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS379055" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566279.5:c.472C>T" ], "proteinEffect": { "hgvs": "ENSP00000456125.1:p.Gln158Ter", "hgvsWellDefined": "ENSP00000456125.1:p.Gln158_Met611delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379326" }, { "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566286.5:c.646C>T" ], "proteinEffect": { "hgvs": "ENSP00000455418.2:p.Gln216Ter", "hgvsWellDefined": "ENSP00000455418.2:p.Gln216_Met664delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379331" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "C", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566514.5:c.613C>T" ], "proteinEffect": { "hgvs": "ENSP00000456983.2:p.Gln205Ter", "hgvsWellDefined": "ENSP00000456983.2:p.Gln205Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS379494" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000566777.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000457245.2:p.Gln88Ter", "hgvsWellDefined": "ENSP00000457245.2:p.Gln88Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS379677" }, { "coordinates": [ { "allele": "T", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000567880.5:c.472C>T" ], "proteinEffect": { "hgvs": "ENSP00000454366.1:p.Gln158Ter", "hgvsWellDefined": "ENSP00000454366.1:p.Gln158_Met607delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380404" }, { "coordinates": [ { "allele": "T", "end": 693, "referenceAllele": "C", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568169.5:c.664C>T" ], "proteinEffect": { "hgvs": "ENSP00000457392.1:p.Gln222Ter", "hgvsWellDefined": "ENSP00000457392.1:p.Gln222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS380591" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568186.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000458122.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000458122.1:p.Gln88Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS380603" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568673.5:c.580C>T" ], "proteinEffect": { "hgvs": "ENSP00000455135.1:p.Gln194Ter", "hgvsWellDefined": "ENSP00000455135.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380953" }, { "coordinates": [ { "allele": "T", "end": 1087, "referenceAllele": "C", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000568740.5:c.577C>T" ], "proteinEffect": { "hgvs": "ENSP00000455346.1:p.Gln193Ter", "hgvsWellDefined": "ENSP00000455346.1:p.Gln193_Met642delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS380991" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000569012.5:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000455304.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000455304.1:p.Gln88_Thr163del" }, "referenceSequence": "http://reg.genome.network/refseq/RS381177" }, { "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570177.6:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000454647.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000454647.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381959" }, { "coordinates": [ { "allele": "T", "end": 420, "referenceAllele": "C", "start": 419 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000570287.6:c.172C>T" ], "proteinEffect": { "hgvs": "ENSP00000455763.1:p.Gln58Ter", "hgvsWellDefined": "ENSP00000455763.1:p.Gln58_Met507delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS382029" }, { "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000616053.4:c.400C>T" ], "proteinEffect": { "hgvs": "ENSP00000478549.1:p.Gln134Ter", "hgvsWellDefined": "ENSP00000478549.1:p.Gln134_Met583delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402894" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000625849.2:n.512C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406633" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000625925.2:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000487413.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000487413.1:p.Gln88_Tyr135del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406647" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000626584.2:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000486072.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000486072.1:p.Gln2_Met451delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS407217" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630268.2:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000486405.1:p.Gln88Ter", "hgvsWellDefined": "ENSP00000486405.1:p.Gln88_Arg155del" }, "referenceSequence": "http://reg.genome.network/refseq/RS407344" }, { "coordinates": [ { "allele": "T", "end": 550, "referenceAllele": "C", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630319.2:c.421C>T" ], "proteinEffect": { "hgvs": "ENSP00000486215.1:p.Gln141Ter", "hgvsWellDefined": "ENSP00000486215.1:p.Gln141Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407355" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": 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"ENSP00000486974.1:p.Gln148Ter", "hgvsWellDefined": "ENSP00000486974.1:p.Gln148Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS407428" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000631043.2:n.451C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407465" }, { "@id": "http://reg.genome.network/allele/PA645509716", "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Gln218Ter", "hgvsWellDefined": "NP_001077431.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010431" }, { "@id": "http://reg.genome.network/allele/PA2826319161", "coordinates": [ { "allele": "T", "end": 1054, "referenceAllele": "C", "start": 1053 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.2:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Gln320Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS018449" }, { "@id": "http://reg.genome.network/allele/PA2826319479", "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Gln194Ter", "hgvsWellDefined": "NP_001230156.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018450" }, { "@id": "http://reg.genome.network/allele/PA2826319991", "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.1:c.670C>T" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Gln224Ter", "hgvsWellDefined": "NP_001230157.1:p.Gln224_Met677delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018451" }, { "@id": "http://reg.genome.network/allele/PA2826320494", "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.1:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Gln216Ter", "hgvsWellDefined": "NP_001230159.1:p.Gln216_Met664delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018452" }, { "@id": "http://reg.genome.network/allele/PA2826320979", "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Gln176Ter", "hgvsWellDefined": "NP_001230160.1:p.Gln176_Met625delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018453" }, { "@id": "http://reg.genome.network/allele/PA2826321426", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243232.1:c.439C>T" ], "proteinEffect": { "hgvs": "NP_001230161.1:p.Gln147Ter", "hgvsWellDefined": "NP_001230161.1:p.Gln147_Met600delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018454" }, { "@id": "http://reg.genome.network/allele/PA2826321844", "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.1:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Gln88Ter", "hgvsWellDefined": "NP_001230162.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018455" }, { "@id": "http://reg.genome.network/allele/PA2826322223", "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.1:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Gln58Ter", "hgvsWellDefined": "NP_001230163.1:p.Gln58_Met511delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018456" }, { "@id": "http://reg.genome.network/allele/PA2826322606", "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.1:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Gln58Ter", "hgvsWellDefined": "NP_001230164.1:p.Gln58_Met507delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018457" }, { "@id": "http://reg.genome.network/allele/PA2826322986", "coordinates": [ { "allele": "T", "end": 309, "referenceAllele": "C", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.1:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Gln58Ter", "hgvsWellDefined": "NP_001230165.1:p.Gln58_Met507delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018458" }, { "@id": "http://reg.genome.network/allele/PA2826915989", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306207.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001293136.1:p.Gln194Ter", "hgvsWellDefined": "NP_001293136.1:p.Gln194_Met643delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026030" }, { "@id": "http://reg.genome.network/allele/PA2826916415", "coordinates": [ { "allele": "T", "end": 720, "referenceAllele": "C", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306208.1:c.439C>T" ], "proteinEffect": { "hgvs": "NP_001293137.1:p.Gln147Ter", "hgvsWellDefined": "NP_001293137.1:p.Gln147_Met596delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026031" }, { "@id": "http://reg.genome.network/allele/PA2829423158", "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.2:c.652C>T" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Gln218Ter", "hgvsWellDefined": "NP_003190.1:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028464" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.3:c.580C>T" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Gln194Ter", "hgvsWellDefined": "XP_005266796.2:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065157" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.3:c.649C>T" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Gln217Ter", "hgvsWellDefined": "XP_005266798.1:p.Gln217_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065158" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266743.3:c.580C>T" ], "proteinEffect": { "hgvs": "XP_005266800.1:p.Gln194Ter", "hgvsWellDefined": "XP_005266800.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065159" }, { "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266744.3:c.580C>T" ], "proteinEffect": { "hgvs": "XP_005266801.1:p.Gln194Ter", "hgvsWellDefined": "XP_005266801.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065160" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.3:c.577C>T" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Gln193Ter", "hgvsWellDefined": "XP_005266802.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065161" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266747.3:c.526C>T" ], "proteinEffect": { "hgvs": "XP_005266804.1:p.Gln176Ter", "hgvsWellDefined": "XP_005266804.1:p.Gln176_Met629delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065162" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "C", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.3:c.442C>T" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Gln148Ter", "hgvsWellDefined": "XP_005266806.1:p.Gln148_Met601delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065163" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.3:c.262C>T" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Gln88Ter", "hgvsWellDefined": "XP_005266809.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065164" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266754.3:c.262C>T" ], "proteinEffect": { "hgvs": "XP_005266811.1:p.Gln88Ter", "hgvsWellDefined": "XP_005266811.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065165" }, { "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.3:c.262C>T" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Gln88Ter", "hgvsWellDefined": "XP_005266812.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065166" }, { "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "C", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.3:c.172C>T" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Gln58Ter", "hgvsWellDefined": "XP_005266818.1:p.Gln58_Met510delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065167" }, { "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.2:c.652C>T" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Gln218Ter", "hgvsWellDefined": "XP_006722599.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074600" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.2:c.652C>T" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Gln218Ter", "hgvsWellDefined": "XP_006722600.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074601" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Gln193Ter", "hgvsWellDefined": "XP_006722601.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074602" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722539.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_006722602.1:p.Gln88Ter", "hgvsWellDefined": "XP_006722602.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074603" }, { "coordinates": [ { "allele": "T", "end": 391, "referenceAllele": "C", "start": 390 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722540.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_006722603.1:p.Gln88Ter", "hgvsWellDefined": "XP_006722603.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074604" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526154.1:c.955C>T" ], "proteinEffect": { "hgvs": "XP_011524456.1:p.Gln319Ter", "hgvsWellDefined": "XP_011524456.1:p.Gln319_Met772delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093261" }, { "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526155.1:c.958C>T" ], "proteinEffect": { "hgvs": "XP_011524457.1:p.Gln320Ter", "hgvsWellDefined": "XP_011524457.1:p.Gln320_Met772delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093262" }, { "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526156.1:c.958C>T" ], "proteinEffect": { "hgvs": "XP_011524458.1:p.Gln320Ter", "hgvsWellDefined": "XP_011524458.1:p.Gln320_Met769delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093263" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526157.1:c.955C>T" ], "proteinEffect": { "hgvs": "XP_011524459.1:p.Gln319Ter", "hgvsWellDefined": "XP_011524459.1:p.Gln319_Met768delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093264" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526158.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011524460.1:p.Gln216Ter", "hgvsWellDefined": "XP_011524460.1:p.Gln216_Met669delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093265" }, { "coordinates": [ { "allele": "T", "end": 507, "referenceAllele": "C", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526159.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011524461.1:p.Gln88Ter", "hgvsWellDefined": "XP_011524461.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093266" }, { "coordinates": [ { "allele": "T", "end": 803, "referenceAllele": "C", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526160.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011524462.1:p.Gln88Ter", "hgvsWellDefined": "XP_011524462.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093267" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526161.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011524463.1:p.Gln88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093268" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526162.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011524464.1:p.Gln88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093269" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526163.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011524465.1:p.Gln88Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093270" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526164.1:c.262C>T" ], "proteinEffect": { "hgvs": "XP_011524466.1:p.Gln88Ter", "hgvsWellDefined": "XP_011524466.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093271" }, { "@id": "http://reg.genome.network/allele/PA2827335204", "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.2:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Gln218Ter", "hgvsWellDefined": "NP_001317533.1:p.Gln218_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516949" }, { "@id": "http://reg.genome.network/allele/PA2827335625", "coordinates": [ { "allele": "T", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Gln88Ter", "hgvsWellDefined": "NP_001317534.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516950" }, { "@id": "http://reg.genome.network/allele/PA2827430630", "coordinates": [ { "allele": "T", "end": 698, "referenceAllele": "C", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.1:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Gln176Ter", "hgvsWellDefined": "NP_001335140.1:p.Gln176_Met629delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518066" }, { "@id": "http://reg.genome.network/allele/PA2827431052", "coordinates": [ { "allele": "T", "end": 646, "referenceAllele": "C", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.1:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Gln88Ter", "hgvsWellDefined": "NP_001335141.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518067" }, { "@id": "http://reg.genome.network/allele/PA916029848", "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.1:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Gln88Ter", "hgvsWellDefined": "NP_001335142.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518068" }, { "@id": "http://reg.genome.network/allele/PA2827431816", "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.1:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Gln58Ter", "hgvsWellDefined": "NP_001335143.1:p.Gln58_Met506delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518069" }, { "@id": "http://reg.genome.network/allele/PA2827432169", "coordinates": [ { "allele": "T", "end": 247, "referenceAllele": "C", "start": 246 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.1:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Gln2Ter", "hgvsWellDefined": "NP_001335144.1:p.Gln2_Met455delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518070" }, { "@id": "http://reg.genome.network/allele/PA2827432517", "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.1:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Gln58Ter", "hgvsWellDefined": "NP_001335145.1:p.Gln58_Met511delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518071" }, { "@id": "http://reg.genome.network/allele/PA2827432999", "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348217.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001335146.1:p.Gln194Ter", "hgvsWellDefined": "NP_001335146.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518072" }, { "@id": "http://reg.genome.network/allele/PA2827433500", "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Gln194Ter", "hgvsWellDefined": "NP_001335147.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518073" }, { "@id": "http://reg.genome.network/allele/PA2827434001", "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Gln194Ter", "hgvsWellDefined": "NP_001335148.1:p.Gln194_Met643delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518074" }, { "@id": "http://reg.genome.network/allele/PA2827434505", "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348220.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001335149.1:p.Gln193Ter", "hgvsWellDefined": "NP_001335149.1:p.Gln193_Met642delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518075" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.4:c.580C>T" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Gln194Ter", "hgvsWellDefined": "XP_005266796.2:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536280" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.4:c.649C>T" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Gln217Ter", "hgvsWellDefined": "XP_005266798.1:p.Gln217_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536281" }, { "coordinates": [ { "allele": "T", "end": 708, "referenceAllele": "C", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.4:c.577C>T" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Gln193Ter", "hgvsWellDefined": "XP_005266802.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536282" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "C", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.4:c.442C>T" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Gln148Ter", "hgvsWellDefined": "XP_005266806.1:p.Gln148_Met601delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536283" }, { "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.5:c.262C>T" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Gln88Ter", "hgvsWellDefined": "XP_005266809.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536284" }, { "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.5:c.262C>T" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Gln88Ter", "hgvsWellDefined": "XP_005266812.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536285" }, { "coordinates": [ { "allele": "T", "end": 853, "referenceAllele": "C", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.4:c.172C>T" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Gln58Ter", "hgvsWellDefined": "XP_005266818.1:p.Gln58_Met510delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536286" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.3:c.652C>T" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Gln218Ter", "hgvsWellDefined": "XP_006722599.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540562" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.3:c.652C>T" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Gln218Ter", "hgvsWellDefined": "XP_006722600.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540563" }, { "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.3:c.577C>T" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Gln193Ter", "hgvsWellDefined": "XP_006722601.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540564" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025934.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_016881423.1:p.Gln193Ter", "hgvsWellDefined": "XP_016881423.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576166" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025935.2:c.580C>T" ], "proteinEffect": { "hgvs": "XP_016881424.1:p.Gln194Ter", "hgvsWellDefined": "XP_016881424.1:p.Gln194_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576167" }, { "coordinates": [ { "allele": "T", "end": 904, "referenceAllele": "C", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025936.2:c.580C>T" ], "proteinEffect": { "hgvs": "XP_016881425.1:p.Gln194Ter", "hgvsWellDefined": "XP_016881425.1:p.Gln194_Met643delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576168" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025937.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_016881426.1:p.Gln193Ter", "hgvsWellDefined": "XP_016881426.1:p.Gln193_Met642delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576169" }, { "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025938.2:c.649C>T" ], "proteinEffect": { "hgvs": "XP_016881427.1:p.Gln217Ter", "hgvsWellDefined": "XP_016881427.1:p.Gln217_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576170" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025940.2:c.652C>T" ], "proteinEffect": { "hgvs": "XP_016881429.1:p.Gln218Ter", "hgvsWellDefined": "XP_016881429.1:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576171" }, { "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025941.2:c.652C>T" ], "proteinEffect": { "hgvs": "XP_016881430.1:p.Gln218Ter", "hgvsWellDefined": "XP_016881430.1:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576172" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025942.2:c.649C>T" ], "proteinEffect": { "hgvs": "XP_016881431.1:p.Gln217Ter", "hgvsWellDefined": "XP_016881431.1:p.Gln217_Met666delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576173" }, { "coordinates": [ { "allele": "T", "end": 867, "referenceAllele": "C", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025943.2:c.652C>T" ], "proteinEffect": { "hgvs": "XP_016881432.1:p.Gln218Ter", "hgvsWellDefined": "XP_016881432.1:p.Gln218_Met666delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576174" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025944.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_016881433.1:p.Gln193Ter", "hgvsWellDefined": "XP_016881433.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576175" }, { "coordinates": [ { "allele": "T", "end": 1129, "referenceAllele": "C", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025945.2:c.580C>T" ], "proteinEffect": { "hgvs": "XP_016881434.1:p.Gln194Ter", "hgvsWellDefined": "XP_016881434.1:p.Gln194_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576176" }, { "coordinates": [ { "allele": "T", "end": 1139, "referenceAllele": "C", "start": 1138 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025946.2:c.580C>T" ], "proteinEffect": { "hgvs": "XP_016881435.1:p.Gln194Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576177" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025948.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_016881437.1:p.Gln193Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576178" }, { "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025950.2:c.577C>T" ], "proteinEffect": { "hgvs": "XP_016881439.1:p.Gln193Ter", "hgvsWellDefined": "XP_016881439.1:p.Gln193_Met641delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576179" }, { "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025951.2:c.526C>T" ], "proteinEffect": { "hgvs": "XP_016881440.1:p.Gln176Ter", "hgvsWellDefined": "XP_016881440.1:p.Gln176_Met628delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576180" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025952.2:c.439C>T" ], "proteinEffect": { "hgvs": "XP_016881441.1:p.Gln147Ter", "hgvsWellDefined": "XP_016881441.1:p.Gln147_Met599delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576181" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "C", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025953.2:c.442C>T" ], "proteinEffect": { "hgvs": "XP_016881442.1:p.Gln148Ter", "hgvsWellDefined": "XP_016881442.1:p.Gln148_Met597delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576182" }, { "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025954.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016881443.1:p.Gln88Ter", "hgvsWellDefined": "XP_016881443.1:p.Gln88_Met540delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576183" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025956.2:c.262C>T" ], "proteinEffect": { "hgvs": "XP_016881445.1:p.Gln88Ter", "hgvsWellDefined": "XP_016881445.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576184" }, { "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451240.1:c.580C>T" ], "proteinEffect": { "hgvs": "XP_024307008.1:p.Gln194Ter", "hgvsWellDefined": "XP_024307008.1:p.Gln194_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584759" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "C", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451241.1:c.415C>T" ], "proteinEffect": { "hgvs": "XP_024307009.1:p.Gln139Ter", "hgvsWellDefined": "XP_024307009.1:p.Gln139_Met592delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584760" }, { "@id": "http://reg.genome.network/allele/PA645509716", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.2:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Gln218Ter", "hgvsWellDefined": "NP_001077431.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676369", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354452.8:c.652C>T" }, "RefSeq": { "hgvs": "NM_001083962.2:c.652C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346440.3:p.Gln218Ter" }, "RefSeq": { "hgvs": "NP_001077431.1:p.Gln218Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826319161", "coordinates": [ { "allele": "T", "end": 1018, "referenceAllele": "C", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.3:c.958C>T" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Gln320Ter", "hgvsWellDefined": "NP_001230155.2:p.Gln320_Met773delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680199" }, { "@id": "http://reg.genome.network/allele/PA2826319479", "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.2:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Gln194Ter", "hgvsWellDefined": "NP_001230156.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680200" }, { "@id": "http://reg.genome.network/allele/PA2826319991", "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.2:c.670C>T" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Gln224Ter", "hgvsWellDefined": "NP_001230157.1:p.Gln224_Met677delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680201" }, { "@id": "http://reg.genome.network/allele/PA2826320979", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.2:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Gln176Ter", "hgvsWellDefined": "NP_001230160.1:p.Gln176_Met625delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680202" }, { "@id": "http://reg.genome.network/allele/PA2826321844", "coordinates": [ { "allele": "T", "end": 466, "referenceAllele": "C", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Gln88Ter", "hgvsWellDefined": "NP_001230162.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680203" }, { "@id": "http://reg.genome.network/allele/PA2826322223", "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.2:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Gln58Ter", "hgvsWellDefined": "NP_001230163.1:p.Gln58_Met511delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680204" }, { "@id": "http://reg.genome.network/allele/PA2826322606", "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.2:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Gln58Ter", "hgvsWellDefined": "NP_001230164.1:p.Gln58_Met507delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680205" }, { "@id": "http://reg.genome.network/allele/PA2826322986", "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.2:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Gln58Ter", "hgvsWellDefined": "NP_001230165.1:p.Gln58_Met507delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680206" }, { "@id": "http://reg.genome.network/allele/PA2827335204", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.3:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Gln218Ter", "hgvsWellDefined": "NP_001317533.1:p.Gln218_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687027" }, { "@id": "http://reg.genome.network/allele/PA2827335625", "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.3:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Gln88Ter", "hgvsWellDefined": "NP_001317534.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687028" }, { "@id": "http://reg.genome.network/allele/PA2827430630", "coordinates": [ { "allele": "T", "end": 701, "referenceAllele": "C", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.2:c.526C>T" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Gln176Ter", "hgvsWellDefined": "NP_001335140.1:p.Gln176_Met629delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687607" }, { "@id": "http://reg.genome.network/allele/PA2827431052", "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Gln88Ter", "hgvsWellDefined": "NP_001335141.1:p.Gln88_Met537delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687608" }, { "@id": "http://reg.genome.network/allele/PA916029848", "coordinates": [ { "allele": "T", "end": 454, "referenceAllele": "C", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.2:c.262C>T" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Gln88Ter", "hgvsWellDefined": "NP_001335142.1:p.Gln88_Met541delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687609" }, { "@id": "http://reg.genome.network/allele/PA2827431816", "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.2:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Gln58Ter", "hgvsWellDefined": "NP_001335143.1:p.Gln58_Met506delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687610" }, { "@id": "http://reg.genome.network/allele/PA2827432169", "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "C", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.2:c.4C>T" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Gln2Ter", "hgvsWellDefined": "NP_001335144.1:p.Gln2_Met455delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687611" }, { "@id": "http://reg.genome.network/allele/PA2827432517", "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.2:c.172C>T" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Gln58Ter", "hgvsWellDefined": "NP_001335145.1:p.Gln58_Met511delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687612" }, { "@id": "http://reg.genome.network/allele/PA2827433500", "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.2:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Gln194Ter", "hgvsWellDefined": "NP_001335147.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687613" }, { "@id": "http://reg.genome.network/allele/PA2827434001", "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.2:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Gln194Ter", "hgvsWellDefined": "NP_001335148.1:p.Gln194_Met643delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687614" }, { "@id": "http://reg.genome.network/allele/PA2828343880", "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369567.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001356496.1:p.Gln218Ter", "hgvsWellDefined": "NP_001356496.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691778" }, { "@id": "http://reg.genome.network/allele/PA2828344390", "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369568.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001356497.1:p.Gln218Ter", "hgvsWellDefined": "NP_001356497.1:p.Gln218_Met671delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691779" }, { "@id": "http://reg.genome.network/allele/PA2828344901", "coordinates": [ { "allele": "T", "end": 817, "referenceAllele": "C", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369569.1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001356498.1:p.Gln217Ter", "hgvsWellDefined": "NP_001356498.1:p.Gln217_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691780" }, { "@id": "http://reg.genome.network/allele/PA2828345413", "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369570.1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001356499.1:p.Gln217Ter", "hgvsWellDefined": "NP_001356499.1:p.Gln217_Met670delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691781" }, { "@id": "http://reg.genome.network/allele/PA2828345921", "coordinates": [ { "allele": "T", "end": 1187, "referenceAllele": "C", "start": 1186 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369571.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001356500.1:p.Gln218Ter", "hgvsWellDefined": "NP_001356500.1:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691782" }, { "@id": "http://reg.genome.network/allele/PA2828346432", "coordinates": [ { "allele": "T", "end": 820, "referenceAllele": "C", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369572.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001356501.1:p.Gln218Ter", "hgvsWellDefined": "NP_001356501.1:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691783" }, { "@id": "http://reg.genome.network/allele/PA2828346938", "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369573.1:c.649C>T" ], "proteinEffect": { "hgvs": "NP_001356502.1:p.Gln217Ter", "hgvsWellDefined": "NP_001356502.1:p.Gln217_Met666delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691784" }, { "@id": "http://reg.genome.network/allele/PA2828347447", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369574.1:c.652C>T" ], "proteinEffect": { "hgvs": "NP_001356503.1:p.Gln218Ter", "hgvsWellDefined": "NP_001356503.1:p.Gln218_Met666delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691785" }, { "@id": "http://reg.genome.network/allele/PA2828347948", "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369575.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356504.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356504.1:p.Gln194_Met647delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691786" }, { "@id": "http://reg.genome.network/allele/PA2828348451", "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369576.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001356505.1:p.Gln193Ter", "hgvsWellDefined": "NP_001356505.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691787" }, { "@id": "http://reg.genome.network/allele/PA2828348952", "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369577.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356506.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356506.1:p.Gln194_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691788" }, { "@id": "http://reg.genome.network/allele/PA2828349454", "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369578.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001356507.1:p.Gln193Ter", "hgvsWellDefined": "NP_001356507.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691789" }, { "@id": "http://reg.genome.network/allele/PA2828349959", "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369579.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356508.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356508.1:p.Gln194_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691790" }, { "@id": "http://reg.genome.network/allele/PA2828350461", "coordinates": [ { "allele": "T", "end": 730, "referenceAllele": "C", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369580.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356509.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356509.1:p.Gln194_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691791" }, { "@id": "http://reg.genome.network/allele/PA2828350963", "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "C", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369581.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001356510.1:p.Gln193Ter", "hgvsWellDefined": "NP_001356510.1:p.Gln193_Met646delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691792" }, { "@id": "http://reg.genome.network/allele/PA2828351465", "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369582.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356511.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356511.1:p.Gln194_Met643delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691793" }, { "@id": "http://reg.genome.network/allele/PA2828351966", "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369583.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356512.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356512.1:p.Gln194_Met643delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691794" }, { "@id": "http://reg.genome.network/allele/PA2828352467", "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369584.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001356513.1:p.Gln193Ter", "hgvsWellDefined": "NP_001356513.1:p.Gln193_Met642delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691795" }, { "@id": "http://reg.genome.network/allele/PA2828352968", "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369585.1:c.577C>T" ], "proteinEffect": { "hgvs": "NP_001356514.1:p.Gln193Ter", "hgvsWellDefined": "NP_001356514.1:p.Gln193_Met642delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691796" }, { "@id": "http://reg.genome.network/allele/PA2828353446", "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369586.1:c.580C>T" ], "proteinEffect": { "hgvs": "NP_001356515.1:p.Gln194Ter", "hgvsWellDefined": "NP_001356515.1:p.Gln194_Met648delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691797" }, { "@id": "http://reg.genome.network/allele/PA2829423158", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.3:c.652C>T" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Gln218Ter", "hgvsWellDefined": "NP_003190.1:p.Gln218_Met667delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695755" }, { "@id": "http://reg.genome.network/allele/PA2826320494", "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "C", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.2:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Gln216Ter", "hgvsWellDefined": "NP_001230159.1:p.Gln216_Met664delinsAspGlyHisHisSerSerAspProTrpSerSerSerSerGlyMetAsnGlnProGlyTyrAlaGlyMetLeuGlyAsnSerSerHisIleProGlnSerSerSerTyrCysSerLeuHisProHisGluArgLeuSerTyrProSerHisSerSerAlaAspIleAsnSerSerLeuProProMetSerThrPheHisArgSerGlyThrAsnHisTyrSerThrSerSerCysThrProProAlaAsnGlyThrAspSerIleMetAlaAsnArgGlySerGlyAlaAlaGlySerSerGlnThrGlyAspAlaLeuGlyLysAlaLeuAlaSerIleTyrSerProAspHisThrAsnAsnSerPheSerSerAsnProSerThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714455" } ], "type": "nucleotide" }