{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3260671893", "communityStandardTitle": [ "NC_000017.11:g.17221527_17222671del" ], "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "", "end": 17222671, "referenceAllele": "CCTGCCTCACCAGCGAGCTTCTCCATCTGGACCAAGGTATCCTCGGTCGGAGCACCTTCCAGGAGCTTCTCGGTCAGCCGGCTGCCACACGCCTTCAGGAGCCTGGAGAACACAGCACCAGCTATGAGCGTTCTCGCCAAAGGAAAAAGCAAACCTGACGCTCACCCAGCCCCTGATCCTACCAGTTTAAAGAAAAAATGGGTATAAAAGAACACCAGCAGGGCACAACCAGCCAGATCCCGCATGCAGGCAGTTCCACAAGTCAACGACCAAGGTCCTTCAATAGATGGATGGGAGGAACTTGGAGGGGAGGGGATGCAAGGGGGAGCTGTTCTAAACCAGAGAGACTTGGGGCGCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCA", "start": 17221526 } ], "hgvs": [ "NC_000017.11:g.17221527_17222671del", "CM000679.2:g.17221527_17222671del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "", "end": 17125985, "referenceAllele": "CCTGCCTCACCAGCGAGCTTCTCCATCTGGACCAAGGTATCCTCGGTCGGAGCACCTTCCAGGAGCTTCTCGGTCAGCCGGCTGCCACACGCCTTCAGGAGCCTGGAGAACACAGCACCAGCTATGAGCGTTCTCGCCAAAGGAAAAAGCAAACCTGACGCTCACCCAGCCCCTGATCCTACCAGTTTAAAGAAAAAATGGGTATAAAAGAACACCAGCAGGGCACAACCAGCCAGATCCCGCATGCAGGCAGTTCCACAAGTCAACGACCAAGGTCCTTCAATAGATGGATGGGAGGAACTTGGAGGGGAGGGGATGCAAGGGGGAGCTGTTCTAAACCAGAGAGACTTGGGGCGCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCA", "start": 17124840 } ], "hgvs": [ "NC_000017.10:g.17124841_17125985del", "CM000679.1:g.17124841_17125985del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "", "end": 17066710, "referenceAllele": "CCTGCCTCACCAGCGAGCTTCTCCATCTGGACCAAGGTATCCTCGGTCGGAGCACCTTCCAGGAGCTTCTCGGTCAGCCGGCTGCCACACGCCTTCAGGAGCCTGGAGAACACAGCACCAGCTATGAGCGTTCTCGCCAAAGGAAAAAGCAAACCTGACGCTCACCCAGCCCCTGATCCTACCAGTTTAAAGAAAAAATGGGTATAAAAGAACACCAGCAGGGCACAACCAGCCAGATCCCGCATGCAGGCAGTTCCACAAGTCAACGACCAAGGTCCTTCAATAGATGGATGGGAGGAACTTGGAGGGGAGGGGATGCAAGGGGGAGCTGTTCTAAACCAGAGAGACTTGGGGCGCTGCTCCGATGCCAATGCAGTCACTTGTGAGACAAAAGGTAAACTGCACAAGGGCTTGCAGCCTGGAGAACACTCAGGAGTCTGTCCGTTTTGTCGGACATGATCACAGTATTGTGATTATATTTATGGCTGGAATGATACGACTCAGATTTGCTTTAAAAAAAAAAAAAAAGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGTGGATCACATGAGGTCAGGAGTTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATAAAAAAATTAGCTGGGTGTGGTGACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCACTTGAACCCAGGAAGAAGTGAGTTCCACATCAATATGTTTTCAGCACACTCAGGGGAAGAGGCCTACAGAACAAGGACTCCCAGCCCAGATCTGTGCTCACTGACAAGTGCCCACAGGCCAGTGCTCCTCACAGAGGCAGCAAGCAAACACGGCTAAGGACTGTTCTCCCAAATCCATGGACAAGCCAACCAATGTATCGTGACTGCTCTATCCTAACAGATATGCCAAAAGCAGAGACGCCCGTTACCAGGCAAAGGAGGTGTGCAGGCACGCCCACAGGTTGTCATCACTTGTCAGCGATGTCAGCGAGCGGGCGGCGTTGCCGTTCCTCTGGTGTAGGAATGGCGTGAAGGCTGTGTTCATCCTCTGAGCACGCTGTGGGCATCCAAACTGCTCTGCCTCAAACACCTGAAATGCA", "start": 17065565 } ], "hgvs": [ "NC_000017.9:g.17065566_17066710del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "", "end": 20662, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 19517 } ], "hgvs": [ "NG_008001.2:g.19518_20662del", "LRG_325:g.19518_20662del" ], "referenceSequence": "http://reg.genome.network/refseq/RS000765" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1355, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1102, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "ENST00000285071.9:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS743795" }, { "coordinates": [ { "allele": "", "end": 1326, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1073, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "ENST00000285071.8:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS253278" }, { "coordinates": [ { "allele": "", "end": 1336, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1073, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "ENST00000389169.9:c.619-10_881del" ], "referenceSequence": "http://reg.genome.network/refseq/RS274164" }, { "coordinates": [ { "allele": "", "end": 649, "endIntronDirection": "-", "endIntronOffset": 2472, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 649, "startIntronDirection": "-", "startIntronOffset": 3617 } ], "hgvs": [ "ENST00000427497.3:c.149-3617_149-2473del" ], "proteinEffect": { "hgvs": "ENSP00000394249.3:n.149-3617_149-2473del" }, "referenceSequence": "http://reg.genome.network/refseq/RS289728" }, { "coordinates": [ { "allele": "", "end": 724, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "ENST00000466317.1:n.452_724del" ], "referenceSequence": "http://reg.genome.network/refseq/RS309715" }, { "coordinates": [ { "allele": "", "end": 1385, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1122, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_144606.5:c.619-10_881del" ], "referenceSequence": "http://reg.genome.network/refseq/RS041134" }, { "coordinates": [ { "allele": "", "end": 1375, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1122, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_144997.5:c.619-10_871+10del", "LRG_325t1:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS041289" }, { "coordinates": [ { "allele": "", "end": 1429, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1176, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523714.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090847" }, { "coordinates": [ { "allele": "", "end": 2173, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1920, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523715.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090848" }, { "coordinates": [ { "allele": "", "end": 1804, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1551, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523716.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090849" }, { "coordinates": [ { "allele": "", "end": 2089, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1836, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523717.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090850" }, { "coordinates": [ { "allele": "", "end": 1340, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1087, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523718.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090851" }, { "coordinates": [ { "allele": "", "end": 2265, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 2012, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523719.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090852" }, { "coordinates": [ { "allele": "", "end": 1989, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1736, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523720.1:c.397-10_649+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090853" }, { "coordinates": [ { "allele": "", "end": 1168, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 915, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523721.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS090854" }, { "coordinates": [ { "allele": "", "end": 2265, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 2012, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XR_934007.1:n.2013-10_2265+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS129452" }, { "coordinates": [ { "allele": "", "end": 1640, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1387, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353229.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS521570" }, { "coordinates": [ { "allele": "", "end": 1661, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1408, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353230.1:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS521571" }, { "coordinates": [ { "allele": "", "end": 1577, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1324, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353231.1:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS521572" }, { "coordinates": [ { "allele": "", "end": 1388, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1125, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_144606.6:c.619-10_881del" ], "referenceSequence": "http://reg.genome.network/refseq/RS526562" }, { "coordinates": [ { "allele": "", "end": 1378, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1125, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_144997.6:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS526585" }, { "coordinates": [ { "allele": "", "end": 1429, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1176, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523714.3:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS547137" }, { "coordinates": [ { "allele": "", "end": 1315, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1062, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523718.3:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS547138" }, { "coordinates": [ { "allele": "", "end": 1429, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1176, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523719.3:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS547139" }, { "coordinates": [ { "allele": "", "end": 1174, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 921, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_011523721.3:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS547140" }, { "coordinates": [ { "allele": "", "end": 1610, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1357, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_017024305.2:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS574895" }, { "coordinates": [ { "allele": "", "end": 1737, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1484, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_017024308.1:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS574896" }, { "coordinates": [ { "allele": "", "end": 1153, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 900, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_017024309.2:c.397-10_649+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS574897" }, { "coordinates": [ { "allele": "", "end": 2619, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 2366, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XM_024450635.1:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS584169" }, { "coordinates": [ { "allele": "", "end": 1429, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1176, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "XR_001752445.2:n.1177-10_1429+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS599146" }, { "coordinates": [ { "allele": "", "end": 1355, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1102, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_144997.7:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS672110" }, { "coordinates": [ { "allele": "", "end": 1617, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1364, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353229.2:c.673-10_925+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS689657" }, { "coordinates": [ { "allele": "", "end": 1638, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1385, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353230.2:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS689658" }, { "coordinates": [ { "allele": "", "end": 1554, "endIntronDirection": "+", "endIntronOffset": 10, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1301, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_001353231.2:c.619-10_871+10del" ], "referenceSequence": "http://reg.genome.network/refseq/RS689659" }, { "coordinates": [ { "allele": "", "end": 1365, "referenceAllele": "TGCATTTCAGGTGTTTGAGGCAGAGCAGTTTGGATGCCCACAGCGTGCTCAGAGGATGAACACAGCCTTCACGCCATTCCTACACCAGAGGAACGGCAACGCCGCCCGCTCGCTGACATCGCTGACAAGTGATGACAACCTGTGGGCGTGCCTGCACACCTCCTTTGCCTGGTAACGGGCGTCTCTGCTTTTGGCATATCTGTTAGGATAGAGCAGTCACGATACATTGGTTGGCTTGTCCATGGATTTGGGAGAACAGTCCTTAGCCGTGTTTGCTTGCTGCCTCTGTGAGGAGCACTGGCCTGTGGGCACTTGTCAGTGAGCACAGATCTGGGCTGGGAGTCCTTGTTCTGTAGGCCTCTTCCCCTGAGTGTGCTGAAAACATATTGATGTGGAACTCACTTCTTCCTGGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCATGTGATCCACCTGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTAAAGCAAATCTGAGTCGTATCATTCCAGCCATAAATATAATCACAATACTGTGATCATGTCCGACAAAACGGACAGACTCCTGAGTGTTCTCCAGGCTGCAAGCCCTTGTGCAGTTTACCTTTTGTCTCACAAGTGACTGCATTGGCATCGGAGCAGCGCCCCAAGTCTCTCTGGTTTAGAACAGCTCCCCCTTGCATCCCCTCCCCTCCAAGTTCCTCCCATCCATCTATTGAAGGACCTTGGTCGTTGACTTGTGGAACTGCCTGCATGCGGGATCTGGCTGGTTGTGCCCTGCTGGTGTTCTTTTATACCCATTTTTTCTTTAAACTGGTAGGATCAGGGGCTGGGTGAGCGTCAGGTTTGCTTTTTCCTTTGGCGAGAACGCTCATAGCTGGTGCTGTGTTCTCCAGGCTCCTGAAGGCGTGTGGCAGCCGGCTGACCGAGAAGCTCCTGGAAGGTGCTCCGACCGAGGATACCTTGGTCCAGATGGAGAAGCTCGCTGGTGAGGCAGG", "start": 1102, "startIntronDirection": "-", "startIntronOffset": 10 } ], "gene": "http://reg.genome.network/gene/GN027310", "geneNCBI_id": 201163, "geneSymbol": "FLCN", "hgvs": [ "NM_144606.7:c.619-10_881del" ], "referenceSequence": "http://reg.genome.network/refseq/RS699908" } ], "type": "nucleotide" }