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"ENSP00000508535.1:p.Ser247_Asn494delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnMetProGluLeuGluSerPheGlyGlyLysAlaMetTrpGlyLeuLysAsnGlyLeuIleHisAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832419" }, { "coordinates": [ { "allele": "A", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN009829", 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], "proteinEffect": { "hgvs": "ENSP00000510712.1:n.*530C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833193" }, { "coordinates": [ { "allele": "A", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000691724.1:c.737C>A" ], "proteinEffect": { "hgvs": "ENSP00000509255.1:p.Ser246Ter", "hgvsWellDefined": "ENSP00000509255.1:p.Ser247_Gln346delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleAlaSerTrpThrGluArgPheLysLeuLeuLeuGlyAsnArgSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833349" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN009829", 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"ENSP00000508763.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" 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"http://reg.genome.network/refseq/RS833877" }, { "coordinates": [ { "allele": "A", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000692830.1:c.*482C>A" ], "proteinEffect": { "hgvs": "ENSP00000509461.1:n.*482C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS833910" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693069.1:c.638C>A" ], "proteinEffect": { "hgvs": "ENSP00000510072.1:p.Ser213Ter", "hgvsWellDefined": "ENSP00000510072.1:p.Ser214_Asp341delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyTyrLeuLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834047" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "C", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693312.1:c.512C>A" ], "proteinEffect": { "hgvs": "ENSP00000508686.1:p.Ser171Ter", "hgvsWellDefined": "ENSP00000508686.1:p.Ser172_Phe573delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834179" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693664.1:c.737C>A" ], "proteinEffect": { "hgvs": "ENSP00000509614.1:p.Ser246Ter", "hgvsWellDefined": "ENSP00000509614.1:p.Ser247_Arg499delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnIleLeuIleLeuLysSerLeuSerGlyThrAspSerSerGluGluPheLeuThrThrThrLeuAsnThrGlnProGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834363" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000693705.1:c.*414C>A" ], "proteinEffect": { "hgvs": "ENSP00000510697.1:n.*414C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS834385" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.9:c.737C>A" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Ser246Ter", "hgvsWellDefined": "ENSP00000251849.4:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741499", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.737C>A" }, "RefSeq": { "hgvs": "NM_002880.4:c.737C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Ser246Ter" }, "RefSeq": { "hgvs": "NP_002871.1:p.Ser246Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.7:c.737C>A" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Ser246Ter", "hgvsWellDefined": "ENSP00000401888.2:p.Ser247_Phe668delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755905" }, { "coordinates": [ { "allele": "A", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000251849.8:c.737C>A" ], "proteinEffect": { "hgvs": "ENSP00000251849.4:p.Ser246Ter", "hgvsWellDefined": "ENSP00000251849.4:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249768" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000416093.1:c.*315C>A" ], "proteinEffect": { "hgvs": "ENSP00000391265.1:n.*315C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS284305" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000423275.5:c.*414C>A" ], "proteinEffect": { "hgvs": "ENSP00000401088.1:n.*414C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS287680" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000432427.2:c.374C>A" ], "proteinEffect": { "hgvs": "ENSP00000398591.2:p.Ser125Ter", "hgvsWellDefined": "ENSP00000398591.2:p.Ser126_Phe527delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292084" }, { "coordinates": [ { "allele": "A", "end": 1099, "referenceAllele": "C", "start": 1098 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000442415.6:c.737C>A" ], "proteinEffect": { "hgvs": "ENSP00000401888.2:p.Ser246Ter", "hgvsWellDefined": "ENSP00000401888.2:p.Ser247_Phe668delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296866" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "C", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "ENST00000491290.1:n.258C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328920" }, { "@id": "http://reg.genome.network/allele/PA3069525226", "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.3:c.737C>A", "LRG_413t1:c.737C>A" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Ser246Ter", "hgvsWellDefined": "NP_002871.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS028166" }, { "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265355.1:c.737C>A" ], "proteinEffect": { "hgvs": "XP_005265412.1:p.Ser246Ter", "hgvsWellDefined": "XP_005265412.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064593" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265357.1:c.638C>A" ], "proteinEffect": { "hgvs": "XP_005265414.1:p.Ser213Ter", "hgvsWellDefined": "XP_005265414.1:p.Ser214_Phe615delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064594" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265358.3:c.494C>A" ], "proteinEffect": { "hgvs": "XP_005265415.1:p.Ser165Ter", "hgvsWellDefined": "XP_005265415.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064595" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265359.3:c.395C>A" ], "proteinEffect": { "hgvs": "XP_005265416.1:p.Ser132Ter", "hgvsWellDefined": "XP_005265416.1:p.Ser133_Phe534delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064596" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_005265360.1:c.737C>A" ], "proteinEffect": { "hgvs": "XP_005265417.1:p.Ser246Ter", "hgvsWellDefined": "XP_005265417.1:p.Ser247_Asn494delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnMetProGluLeuGluSerPheGlyGlyLysAlaMetTrpGlyLeuLysAsnGlyLeuIleHisAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS064597" }, { "coordinates": [ { "allele": "A", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.1:c.737C>A" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Ser246Ter", "hgvsWellDefined": "XP_011532276.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100992" }, { "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533975.1:c.494C>A" ], "proteinEffect": { "hgvs": "XP_011532277.1:p.Ser165Ter", "hgvsWellDefined": "XP_011532277.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100993" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.1:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Ser246Ter", "hgvsWellDefined": "NP_001341618.1:p.Ser247_Phe668delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522615" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.1:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ser246Ter", "hgvsWellDefined": "NP_001341619.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522616" }, { "coordinates": [ { "allele": "A", "end": 1132, "referenceAllele": "C", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.1:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341620.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522617" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.1:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341621.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522618" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.1:c.638C>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ser213Ter", "hgvsWellDefined": "NP_001341622.1:p.Ser214_Phe615delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522619" }, { "coordinates": [ { "allele": "A", "end": 1039, "referenceAllele": "C", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.1:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341623.1:p.Ser166_Phe587delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522620" }, { "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.1:c.395C>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ser132Ter", "hgvsWellDefined": "NP_001341624.1:p.Ser133_Phe534delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522621" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.1:n.1152C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531389" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.1:n.1152C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531390" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.1:n.1152C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531391" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_011533974.3:c.737C>A" ], "proteinEffect": { "hgvs": "XP_011532276.1:p.Ser246Ter", "hgvsWellDefined": "XP_011532276.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551450" }, { "coordinates": [ { "allele": "A", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XM_017006966.1:c.638C>A" ], "proteinEffect": { "hgvs": "XP_016862455.1:p.Ser213Ter", "hgvsWellDefined": "XP_016862455.1:p.Ser214_Phe615delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS561850" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "XR_001740227.1:n.969C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590444" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354689.3:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001341618.1:p.Ser246Ter", "hgvsWellDefined": "NP_001341618.1:p.Ser247_Phe668delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690283" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.2:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ser246Ter", "hgvsWellDefined": "NP_001341619.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690284" }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.2:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341620.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690285" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.2:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341621.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690286" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.2:c.638C>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ser213Ter", "hgvsWellDefined": "NP_001341622.1:p.Ser214_Phe615delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690287" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.2:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341623.1:p.Ser166_Phe587delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690288" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.2:c.395C>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ser132Ter", "hgvsWellDefined": "NP_001341624.1:p.Ser133_Phe534delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690289" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.2:n.1068C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704891" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.2:n.1068C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704892" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.2:n.1068C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704893" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354690.3:c.737C>A" ], "proteinEffect": { "hgvs": "NP_001341619.1:p.Ser246Ter", "hgvsWellDefined": "NP_001341619.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720546" }, { "coordinates": [ { "allele": "A", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354691.3:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341620.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341620.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720547" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354692.3:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341621.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341621.1:p.Ser166_Phe567delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720548" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354693.3:c.638C>A" ], "proteinEffect": { "hgvs": "NP_001341622.1:p.Ser213Ter", "hgvsWellDefined": "NP_001341622.1:p.Ser214_Phe615delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720549" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354694.3:c.494C>A" ], "proteinEffect": { "hgvs": "NP_001341623.1:p.Ser165Ter", "hgvsWellDefined": "NP_001341623.1:p.Ser166_Phe587delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAsnAsnAsnLeuSerAlaSerProArgAlaTrpSerArgArgPheCysLeuArgGlyArgAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720550" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_001354695.3:c.395C>A" ], "proteinEffect": { "hgvs": "NP_001341624.1:p.Ser132Ter", "hgvsWellDefined": "NP_001341624.1:p.Ser133_Phe534delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720551" }, { "@id": "http://reg.genome.network/allele/PA3069525226", "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NM_002880.4:c.737C>A" ], "proteinEffect": { "hgvs": "NP_002871.1:p.Ser246Ter", "hgvsWellDefined": "NP_002871.1:p.Ser247_Phe648delinsGluGlySerLeuSerGlnArgGlnArgSerThrSerThrProAsnValHisMetValSerThrThrLeuProValAspSerArgMetIleGluAspAlaIleArgSerHisSerGluSerAlaSerProSerAlaLeuSerSerSerProAsnAsnLeuSerProThrGlyTrpSerGlnProLysThrProValProAlaGlnArgGluArgAlaProValSerGlyThrGlnGluLysAsnLysIleArgProArgGlyGlnArgAspSerSerTyrTyrTrpGluIleGluAlaSerGluValMetLeuSerThrArgIleGlySerGlySerPheGlyThrValTyrLysGlyLysTrpHisGlyAspValAlaValLysIleLeuLysValValAspProThrProGluGlnPheGlnAlaPheArgAsnGluValAlaValLeuArgLysThrArgHisValAsnIleLeuLeuPheMetGlyTyrMetThrLysAspAsnLeuAlaIleValThrGlnTrpCysGluGlySerSerLeuTyrLysHisLeuHisValGlnGluThrLysPheGlnMetPheGlnLeuIleAspIleAlaArgGlnThrAlaGlnGlyMetAspTyrLeuHisAlaLysAsnIleIleHisArgAspMetLysSerAsnAsnIlePheLeuHisGluGlyLeuThrValLysIleGlyAspPheGlyLeuAlaThrValLysSerArgTrpSerGlySerGlnGlnValGluGlnProThrGlySerValLeuTrpMetAlaProGluValIleArgMetGlnAspAsnAsnProPheSerPheGlnSerAspValTyrSerTyrGlyIleValLeuTyrGluLeuMetThrGlyGluLeuProTyrSerHisIleAsnAsnArgAspGlnIleIlePheMetValGlyArgGlyTyrAlaSerProAspLeuSerLysLeuTyrLysAsnCysProLysAlaMetLysArgLeuValAlaAspCysValLysLysValLysGluGluArgProLeuPheProGlnIleLeuSerSerIleGluLeuLeuGlnHisSerLeuProLysIleAsnArgSerAlaSerGluProSerLeuHisArgAlaAlaHisThrGluAspIleAsnAlaCysThrLeuThrThrSerProArgLeuProValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727324", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000251849.9:c.737C>A" }, "RefSeq": { "hgvs": "NM_002880.4:c.737C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000251849.4:p.Ser246Ter" }, "RefSeq": { "hgvs": "NP_002871.1:p.Ser246Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148940.3:n.1068C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731498" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148941.3:n.1068C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731499" }, { "coordinates": [ { "allele": "A", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009829", "geneNCBI_id": 5894, "geneSymbol": "RAF1", "hgvs": [ "NR_148942.3:n.1068C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731500" } ], "type": "nucleotide" }