{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3266643874", "communityStandardTitle": [ "NM_000038.6(APC):c.4167_6065dup (p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer)" ], "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 112841659, "referenceAllele": "", "start": 112841659 } ], "hgvs": [ "NC_000005.10:g.112839761_112841659dup", "CM000667.2:g.112839761_112841659dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 112177356, "referenceAllele": "", "start": 112177356 } ], "hgvs": [ "NC_000005.9:g.112175458_112177356dup", "CM000667.1:g.112175458_112177356dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 112205255, "referenceAllele": "", "start": 112205255 } ], "hgvs": [ "NC_000005.8:g.112203357_112205255dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 154139, "referenceAllele": "", "start": 154139 } ], "hgvs": [ "NG_008481.4:g.152241_154139dup", "LRG_130:g.152241_154139dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6175, "referenceAllele": "", "start": 6175 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.4221_6119dup" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Ser2040_Arg2041insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6445, "referenceAllele": "", "start": 6445 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*4173_*6071dup" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*4173_*6071dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6207, "referenceAllele": "", "start": 6207 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.4113_6011dup" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Ser2004_Arg2005insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6215, "referenceAllele": "", "start": 6215 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.4167_6065dup" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6416, "referenceAllele": "", "start": 6416 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.4167_6065dup" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6124, "referenceAllele": "", "start": 6124 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.4167_6065dup" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.4167_6065dup" }, "RefSeq": { "hgvs": "NM_000038.6:c.4167_6065dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" } } } }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6121, "referenceAllele": "", "start": 6121 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.4167_6065dup" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6222, "referenceAllele": "", "start": 6222 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.4167_6065dup" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6310, "referenceAllele": "", "start": 6310 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*3489_*5387dup" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*3489_*5387dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 230, "endIntronDirection": "+", "endIntronOffset": 12687, "referenceAllele": "", "start": 230, "startIntronDirection": "+", "startIntronOffset": 12687 } ], "hgvs": [ "ENST00000520401.1:c.230+10789_230+12687dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6150, "referenceAllele": "", "start": 6150 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.4167_6065dup" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6258, "referenceAllele": "", "start": 6258 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.4167_6065dup" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6224, "referenceAllele": "", "start": 6224 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.4113_6011dup" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser2004_Arg2005insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6461, "referenceAllele": "", "start": 6461 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.4167_6065dup" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6204, "referenceAllele": "", "start": 6204 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.4221_6119dup" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser2040_Arg2041insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6308, "referenceAllele": "", "start": 6308 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.4197_6095dup" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser2032_Arg2033insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6105, "referenceAllele": "", "start": 6105 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.4092_5990dup" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser1997_Arg1998insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6066, "referenceAllele": "", "start": 6066 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.4083_5981dup" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser1994_Arg1995insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6051, "referenceAllele": "", "start": 6051 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.4044_5942dup" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser1981_Arg1982insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5997, "referenceAllele": "", "start": 5997 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.3990_5888dup" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser1963_Arg1964insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6005, "referenceAllele": "", "start": 6005 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.3894_5792dup" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser1931_Arg1932insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5847, "referenceAllele": "", "start": 5847 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.3864_5762dup" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser1921_Arg1922insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5802, "referenceAllele": "", "start": 5802 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.3789_5687dup" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser1896_Arg1897insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5694, "referenceAllele": "", "start": 5694 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.3687_5585dup" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser1862_Arg1863insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6336, "referenceAllele": "", "start": 6336 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.3318_5216dup" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser1739_Arg1740insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6124, "referenceAllele": "", "start": 6124 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.4167_6065dup" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.4167_6065dup" }, "RefSeq": { "hgvs": "NM_000038.6:c.4167_6065dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" } } } }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6232, "referenceAllele": "", "start": 6232 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.4167_6065dup" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6231, "referenceAllele": "", "start": 6231 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.4113_6011dup" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser2004_Arg2005insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6468, "referenceAllele": "", "start": 6468 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.4167_6065dup" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser2022_Arg2023insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6178, "referenceAllele": "", "start": 6178 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.4221_6119dup" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser2040_Arg2041insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6315, "referenceAllele": "", "start": 6315 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.4197_6095dup" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser2032_Arg2033insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6079, "referenceAllele": "", "start": 6079 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.4092_5990dup" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser1997_Arg1998insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6040, "referenceAllele": "", "start": 6040 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.4083_5981dup" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser1994_Arg1995insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6025, "referenceAllele": "", "start": 6025 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.4044_5942dup" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser1981_Arg1982insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5971, "referenceAllele": "", "start": 5971 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.3990_5888dup" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser1963_Arg1964insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6012, "referenceAllele": "", "start": 6012 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.3894_5792dup" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser1931_Arg1932insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5821, "referenceAllele": "", "start": 5821 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.3864_5762dup" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser1921_Arg1922insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5776, "referenceAllele": "", "start": 5776 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.3789_5687dup" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser1896_Arg1897insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 5668, "referenceAllele": "", "start": 5668 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.3687_5585dup" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser1862_Arg1863insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "coordinates": [ { "allele": "TGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTC", "end": 6310, "referenceAllele": "", "start": 6310 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.3318_5216dup" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser1739_Arg1740insValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }