{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3266643810", "communityStandardTitle": [ "NM_000038.6(APC):c.4009_6066dup (p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer)" ], "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 112841660, "referenceAllele": "", "start": 112841660 } ], "hgvs": [ "NC_000005.10:g.112839603_112841660dup", "CM000667.2:g.112839603_112841660dup" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 112177357, "referenceAllele": "", "start": 112177357 } ], "hgvs": [ "NC_000005.9:g.112175300_112177357dup", "CM000667.1:g.112175300_112177357dup" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 112205256, "referenceAllele": "", "start": 112205256 } ], "hgvs": [ "NC_000005.8:g.112203199_112205256dup" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 154140, "referenceAllele": "", "start": 154140 } ], "hgvs": [ "NG_008481.4:g.152083_154140dup", "LRG_130:g.152083_154140dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6176, "referenceAllele": "", "start": 6176 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.4063_6120dup" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Ser2040_Arg2041insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6446, "referenceAllele": "", "start": 6446 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*4015_*6072dup" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*4015_*6072dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6208, "referenceAllele": "", "start": 6208 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.3955_6012dup" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Ser2004_Arg2005insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6216, "referenceAllele": "", "start": 6216 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.4009_6066dup" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6417, "referenceAllele": "", "start": 6417 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.4009_6066dup" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6125, "referenceAllele": "", "start": 6125 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.4009_6066dup" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.4009_6066dup" }, "RefSeq": { "hgvs": "NM_000038.6:c.4009_6066dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" } } } }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6122, "referenceAllele": "", "start": 6122 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.4009_6066dup" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6223, "referenceAllele": "", "start": 6223 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.4009_6066dup" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6311, "referenceAllele": "", "start": 6311 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*3331_*5388dup" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*3331_*5388dup" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 230, "endIntronDirection": "+", "endIntronOffset": 12688, "referenceAllele": "", "start": 230, "startIntronDirection": "+", "startIntronOffset": 12688 } ], "hgvs": [ "ENST00000520401.1:c.230+10631_230+12688dup" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6151, "referenceAllele": "", "start": 6151 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.4009_6066dup" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6259, "referenceAllele": "", "start": 6259 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.4009_6066dup" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6225, "referenceAllele": "", "start": 6225 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.3955_6012dup" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser2004_Arg2005insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6462, "referenceAllele": "", "start": 6462 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.4009_6066dup" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6205, "referenceAllele": "", "start": 6205 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.4063_6120dup" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser2040_Arg2041insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6309, "referenceAllele": "", "start": 6309 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.4039_6096dup" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser2032_Arg2033insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6106, "referenceAllele": "", "start": 6106 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.3934_5991dup" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser1997_Arg1998insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6067, "referenceAllele": "", "start": 6067 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.3925_5982dup" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser1994_Arg1995insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6052, "referenceAllele": "", "start": 6052 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.3886_5943dup" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser1981_Arg1982insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5998, "referenceAllele": "", "start": 5998 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.3832_5889dup" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser1963_Arg1964insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6006, "referenceAllele": "", "start": 6006 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.3736_5793dup" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser1931_Arg1932insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5848, "referenceAllele": "", "start": 5848 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.3706_5763dup" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser1921_Arg1922insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5803, "referenceAllele": "", "start": 5803 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.3631_5688dup" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser1896_Arg1897insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5695, "referenceAllele": "", "start": 5695 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.3529_5586dup" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser1862_Arg1863insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6337, "referenceAllele": "", "start": 6337 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.3160_5217dup" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser1739_Arg1740insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6125, "referenceAllele": "", "start": 6125 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.4009_6066dup" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.4009_6066dup" }, "RefSeq": { "hgvs": "NM_000038.6:c.4009_6066dup" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "RefSeq": { "hgvs": "NP_000029.2:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" } } } }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6233, "referenceAllele": "", "start": 6233 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.4009_6066dup" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6232, "referenceAllele": "", "start": 6232 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.3955_6012dup" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Ser2004_Arg2005insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6469, "referenceAllele": "", "start": 6469 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.4009_6066dup" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Ser2022_Arg2023insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6179, "referenceAllele": "", "start": 6179 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.4063_6120dup" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Ser2040_Arg2041insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6316, "referenceAllele": "", "start": 6316 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.4039_6096dup" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Ser2032_Arg2033insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6080, "referenceAllele": "", "start": 6080 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.3934_5991dup" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Ser1997_Arg1998insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6041, "referenceAllele": "", "start": 6041 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.3925_5982dup" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Ser1994_Arg1995insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6026, "referenceAllele": "", "start": 6026 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.3886_5943dup" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Ser1981_Arg1982insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5972, "referenceAllele": "", "start": 5972 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.3832_5889dup" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Ser1963_Arg1964insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6013, "referenceAllele": "", "start": 6013 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.3736_5793dup" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Ser1931_Arg1932insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5822, "referenceAllele": "", "start": 5822 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.3706_5763dup" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Ser1921_Arg1922insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5777, "referenceAllele": "", "start": 5777 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.3631_5688dup" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Ser1896_Arg1897insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 5669, "referenceAllele": "", "start": 5669 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.3529_5586dup" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Ser1862_Arg1863insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "coordinates": [ { "allele": "CTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTGAATTTGAAAAACGAGATACCATTCCTACAGAAGGCAGAAGTACAGATGAGGCTCAAGGAGGAAAAACCTCATCTGTAACCATACCTGAATTGGATGACAATAAAGCAGAGGAAGGTGATATTCTTGCAGAATGCATTAATTCTGCTATGCCCAAAGGGAAAAGTCACAAGCCTTTCCGTGTGAAAAAGATAATGGACCAGGTCCAGCAAGCATCTGCGTCTTCTTCTGCACCCAACAAAAATCAGTTAGATGGTAAGAAAAAGAAACCAACTTCACCAGTAAAACCTATACCACAAAATACTGAATATAGGACACGTGTAAGAAAAAATGCAGACTCAAAAAATAATTTAAATGCTGAGAGAGTTTTCTCAGACAACAAAGATTCAAAGAAACAGAATTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAAATAATGAAGATAGAGTCAGAGGAAGTTTTGCTTTTGATTCACCTCATCATTACACGCCTATTGAAGGAACTCCTTACTGTTTTTCACGAAATGATTCTTTGAGTTCTCTAGATTTTGATGATGATGATGTTGACCTTTCCAGGGAAAAGGCTGAATTAAGAAAGGCAAAAGAAAATAAGGAATCAGAGGCTAAAGTTACCAGCCACACAGAACTAACCTCCAACCAACAATCAGCTAATAAGACACAAGCTATTGCAAAGCAGCCAATAAATCGAGGTCAGCCTAAACCCATACTTCAGAAACAATCCACTTTTCCCCAGTCATCCAAAGACATACCAGACAGAGGGGCAGCAACTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGAGCCCCCTGACTCACAGGGAGAACCAAGTAAACCTCAAGCATCAGGCTATGCTCCTAAATCATTTCATGTTGAAGATACCCCAGTTTGTTTCTCA", "end": 6311, "referenceAllele": "", "start": 6311 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.3160_5217dup" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Ser1739_Arg1740insLeuGlnGlySerSerLeuSerSerGluSerAlaArgHisLysAlaValGluPheSerSerGlyAlaLysSerProSerLysSerGlyAlaGlnThrProLysSerProProGluHisTyrValGlnGluThrProLeuMetPheSerArgCysThrSerValSerSerLeuAspSerPheGluSerArgSerIleAlaSerSerValGlnSerGluProCysSerGlyMetValSerGlyIleIleSerProSerAspLeuProAspSerProGlyGlnThrMetProProSerArgSerLysThrProProProProProGlnThrAlaGlnThrLysArgGluValProLysAsnLysAlaProThrAlaGluLysArgGluSerGlyProLysGlnAlaAlaValAsnAlaAlaValGlnArgValGlnValLeuProAspAlaAspThrLeuLeuHisPheAlaThrGluSerThrProAspGlyPheSerCysSerSerSerLeuSerAlaLeuSerLeuAspGluProPheIleGlnLysAspValGluLeuArgIleMetProProValGlnGluAsnAspAsnGlyAsnGluThrGluSerGluGlnProLysGluSerAsnGluAsnGlnGluLysGluAlaGluLysThrIleAspSerGluLysAspLeuLeuAspAspSerAspAspAspAspIleGluIleLeuGluGluCysIleIleSerAlaMetProThrLysSerSerArgLysAlaLysLysProAlaGlnThrAlaSerLysLeuProProProValAlaArgLysProSerGlnLeuProValTyrLysLeuLeuProSerGlnAsnArgLeuGlnProGlnLysHisValSerPheThrProGlyAspAspMetProArgValTyrCysValGluGlyThrProIleAsnPheSerThrAlaThrSerLeuSerAspLeuThrIleGluSerProProAsnGluLeuAlaAlaGlyGluGlyValArgGlyGlyAlaGlnSerGlyGluPheGluLysArgAspThrIleProThrGluGlyArgSerThrAspGluAlaGlnGlyGlyLysThrSerSerValThrIleProGluLeuAspAspAsnLysAlaGluGluGlyAspIleLeuAlaGluCysIleAsnSerAlaMetProLysGlyLysSerHisLysProPheArgValLysLysIleMetAspGlnValGlnGlnAlaSerAlaSerSerSerAlaProAsnLysAsnGlnLeuAspGlyLysLysLysLysProThrSerProValLysProIleProGlnAsnThrGluTyrArgThrArgValArgLysAsnAlaAspSerLysAsnAsnLeuAsnAlaGluArgValPheSerAspAsnLysAspSerLysLysGlnAsnLeuLysAsnAsnSerLysValPheAsnAspLysLeuProAsnAsnGluAspArgValArgGlySerPheAlaPheAspSerProHisHisTyrThrProIleGluGlyThrProTyrCysPheSerArgAsnAspSerLeuSerSerLeuAspPheAspAspAspAspValAspLeuSerArgGluLysAlaGluLeuArgLysAlaLysGluAsnLysGluSerGluAlaLysValThrSerHisThrGluLeuThrSerAsnGlnGlnSerAlaAsnLysThrGlnAlaIleAlaLysGlnProIleAsnArgGlyGlnProLysProIleLeuGlnLysGlnSerThrPheProGlnSerSerLysAspIleProAspArgGlyAlaAlaThrAspGluLysLeuGlnAsnPheAlaIleGluAsnThrProValCysPheSerHisAsnSerSerLeuSerSerLeuSerAspIleAspGlnGluAsnAsnAsnLysGluAsnGluProIleLysGluThrGluProProAspSerGlnGlyGluProSerLysProGlnAlaSerGlyTyrAlaProLysSerPheHisValGluAspThrProValCysPheSer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }