question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2 values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 5 at position 112835173 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCTGGCCGCCTGGCTACTTTTTATATTTTTTGTAGAGATTGGGTATTGCTGTGTTGCCCAGGCTGGTTTTTAACTCCTAGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCCTGAAGGCATGAGCCACCACACCCAGCACATGGCAAGTTTTGACCAAATACCTTTAATTGTGTATCAGAGTGTTTCTGTGGCCATTACAATTTGACAGTTGACTTTGATAATTGTATGTTAGGGAGTTCCAGGTTTTCATAATTTGTTATGTGGGGAATTTTAAGAAATTATAGCTTTTCTAGTACCCTTTATTGTTTTTATAAATTACATTGTTAATTTTGAATCAACCACTTGTATATAATGCTTTTTATATAAACAGAATATTGTATATACTACACTGCAACTTGCTCTTGTCATTTAATAATACTTCCAAGATATCTTTCCATATCTATGTATGGTTTACAGAATTTTAAAAATCTACTTTCTTTTTTTTTTGAGACAGGGTCTCACTGTCAACCAGGCTTGAGTGCAGTGGCGCGATCATGGCTTACTGCAGCCTTGACCTCCCAGGCGCAAGTGATCCTCCCAAGCAGCTGTGACTGCAGGCGCGTGCCACCATACCCAGCTCATTTTTTTTTTATTTTTTGTACAGACGGGATTTCACCATGTTGTCCAGGCTGGTCTCAAATTCCTAAACTCCCAGTCACGCCAGTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTGCGCCTTTTTTTTTTTTTTTTTTTTTTAAAAAGAGTTTCGCTCTGTCAGCCAGGCTAGAATGCAGTGTTGCAGTCTCGGCTCACTGCGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATGAAGCCCGGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTTACCACATTGGCGAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCACATGCCGGGCCTTAATCCACTTCCTGTTCACTTTTTTTTTTCTTTTTTCAAGCAACCCCAGCCTGAGAATAACCCACATTCTATTCTGAAAATGTTTTCTTTTCATAATGCACATCAGTTGTGCCTCATATTCTAAGATGTGTGTACTATCTAAACACTTAGAATAAAGTTTATAAAAGTCATTAGTTAAATATTGTGTTCTGCTTGTTTTATAGAGATATCACTGATATAAATACTATTTGGTATTTTATGAACATTTTTCTAAATGGAAAGTTCTTAATTTACCAGTGAGGGACGGGCAATAGGATAGATTAAAAAATAGCTTTTATTCAATATCAGTAACATAGAAGTTAATGAGAGACAAATTCCAACTCTAATTAGATGACCCATATTCTGTTTCTTACTAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTAAAGTACAGAATTCATACTCTCAAAAAGACCTAATTGTAAGCAATGTTTTATATAATCATGAAAGTTTTAAGCCAAAATATATTTATTACTGTGAAAAGATAACTACTAACTCTTAGTTTAACTCATTAGTGTACTTAATGTAATAACAGTTTATAGTATTATAGAGGAGACTAAATTAAGCAAATTATAGTTGAGAGGTGTAGCCCATAGGTGGAGGAAAAAATAGTCACAAATATTGTAACAAAATAATCCATTTCTATTAGTATAGTATAAAAGAGTATGAAAACAAAATTTAGAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAG | CGCCTCAGCTTCTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCTGGCCGCCTGGCTACTTTTTATATTTTTTGTAGAGATTGGGTATTGCTGTGTTGCCCAGGCTGGTTTTTAACTCCTAGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCCTGAAGGCATGAGCCACCACACCCAGCACATGGCAAGTTTTGACCAAATACCTTTAATTGTGTATCAGAGTGTTTCTGTGGCCATTACAATTTGACAGTTGACTTTGATAATTGTATGTTAGGGAGTTCCAGGTTTTCATAATTTGTTATGTGGGGAATTTTAAGAAATTATAGCTTTTCTAGTACCCTTTATTGTTTTTATAAATTACATTGTTAATTTTGAATCAACCACTTGTATATAATGCTTTTTATATAAACAGAATATTGTATATACTACACTGCAACTTGCTCTTGTCATTTAATAATACTTCCAAGATATCTTTCCATATCTATGTATGGTTTACAGAATTTTAAAAATCTACTTTCTTTTTTTTTTGAGACAGGGTCTCACTGTCAACCAGGCTTGAGTGCAGTGGCGCGATCATGGCTTACTGCAGCCTTGACCTCCCAGGCGCAAGTGATCCTCCCAAGCAGCTGTGACTGCAGGCGCGTGCCACCATACCCAGCTCATTTTTTTTTTATTTTTTGTACAGACGGGATTTCACCATGTTGTCCAGGCTGGTCTCAAATTCCTAAACTCCCAGTCACGCCAGTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTGCGCCTTTTTTTTTTTTTTTTTTTTTTAAAAAGAGTTTCGCTCTGTCAGCCAGGCTAGAATGCAGTGTTGCAGTCTCGGCTCACTGCGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATGAAGCCCGGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTTACCACATTGGCGAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCACATGCCGGGCCTTAATCCACTTCCTGTTCACTTTTTTTTTTCTTTTTTCAAGCAACCCCAGCCTGAGAATAACCCACATTCTATTCTGAAAATGTTTTCTTTTCATAATGCACATCAGTTGTGCCTCATATTCTAAGATGTGTGTACTATCTAAACACTTAGAATAAAGTTTATAAAAGTCATTAGTTAAATATTGTGTTCTGCTTGTTTTATAGAGATATCACTGATATAAATACTATTTGGTATTTTATGAACATTTTTCTAAATGGAAAGTTCTTAATTTACCAGTGAGGGACGGGCAATAGGATAGATTAAAAAATAGCTTTTATTCAATATCAGTAACATAGAAGTTAATGAGAGACAAATTCCAACTCTAATTAGATGACCCATATTCTGTTTCTTACTAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGTTTTATATTACTTTTAAAGTACAGAATTCATACTCTCAAAAAGACCTAATTGTAAGCAATGTTTTATATAATCATGAAAGTTTTAAGCCAAAATATATTTATTACTGTGAAAAGATAACTACTAACTCTTAGTTTAACTCATTAGTGTACTTAATGTAATAACAGTTTATAGTATTATAGAGGAGACTAAATTAAGCAAATTATAGTTGAGAGGTGTAGCCCATAGGTGGAGGAAAAAATAGTCACAAATATTGTAACAAAATAATCCATTTCTATTAGTATAGTATAAAAGAGTATGAAAACAAAATTTAGAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGNN | benign | 96,989 |
Does the chromosome 5 mutation at position 112835184 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCTGGCCGCCTGGCTACTTTTTATATTTTTTGTAGAGATTGGGTATTGCTGTGTTGCCCAGGCTGGTTTTTAACTCCTAGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCCTGAAGGCATGAGCCACCACACCCAGCACATGGCAAGTTTTGACCAAATACCTTTAATTGTGTATCAGAGTGTTTCTGTGGCCATTACAATTTGACAGTTGACTTTGATAATTGTATGTTAGGGAGTTCCAGGTTTTCATAATTTGTTATGTGGGGAATTTTAAGAAATTATAGCTTTTCTAGTACCCTTTATTGTTTTTATAAATTACATTGTTAATTTTGAATCAACCACTTGTATATAATGCTTTTTATATAAACAGAATATTGTATATACTACACTGCAACTTGCTCTTGTCATTTAATAATACTTCCAAGATATCTTTCCATATCTATGTATGGTTTACAGAATTTTAAAAATCTACTTTCTTTTTTTTTTGAGACAGGGTCTCACTGTCAACCAGGCTTGAGTGCAGTGGCGCGATCATGGCTTACTGCAGCCTTGACCTCCCAGGCGCAAGTGATCCTCCCAAGCAGCTGTGACTGCAGGCGCGTGCCACCATACCCAGCTCATTTTTTTTTTATTTTTTGTACAGACGGGATTTCACCATGTTGTCCAGGCTGGTCTCAAATTCCTAAACTCCCAGTCACGCCAGTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTGCGCCTTTTTTTTTTTTTTTTTTTTTTAAAAAGAGTTTCGCTCTGTCAGCCAGGCTAGAATGCAGTGTTGCAGTCTCGGCTCACTGCGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATGAAGCCCGGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTTACCACATTGGCGAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCACATGCCGGGCCTTAATCCACTTCCTGTTCACTTTTTTTTTTCTTTTTTCAAGCAACCCCAGCCTGAGAATAACCCACATTCTATTCTGAAAATGTTTTCTTTTCATAATGCACATCAGTTGTGCCTCATATTCTAAGATGTGTGTACTATCTAAACACTTAGAATAAAGTTTATAAAAGTCATTAGTTAAATATTGTGTTCTGCTTGTTTTATAGAGATATCACTGATATAAATACTATTTGGTATTTTATGAACATTTTTCTAAATGGAAAGTTCTTAATTTACCAGTGAGGGACGGGCAATAGGATAGATTAAAAAATAGCTTTTATTCAATATCAGTAACATAGAAGTTAATGAGAGACAAATTCCAACTCTAATTAGATGACCCATATTCTGTTTCTTACTAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTAAAGTACAGAATTCATACTCTCAAAAAGACCTAATTGTAAGCAATGTTTTATATAATCATGAAAGTTTTAAGCCAAAATATATTTATTACTGTGAAAAGATAACTACTAACTCTTAGTTTAACTCATTAGTGTACTTAATGTAATAACAGTTTATAGTATTATAGAGGAGACTAAATTAAGCAAATTATAGTTGAGAGGTGTAGCCCATAGGTGGAGGAAAAAATAGTCACAAATATTGTAACAAAATAATCCATTTCTATTAGTATAGTATAAAAGAGTATGAAAACAAAATTTAGAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGAT | CTCAAGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCTGGCCGCCTGGCTACTTTTTATATTTTTTGTAGAGATTGGGTATTGCTGTGTTGCCCAGGCTGGTTTTTAACTCCTAGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCCTGAAGGCATGAGCCACCACACCCAGCACATGGCAAGTTTTGACCAAATACCTTTAATTGTGTATCAGAGTGTTTCTGTGGCCATTACAATTTGACAGTTGACTTTGATAATTGTATGTTAGGGAGTTCCAGGTTTTCATAATTTGTTATGTGGGGAATTTTAAGAAATTATAGCTTTTCTAGTACCCTTTATTGTTTTTATAAATTACATTGTTAATTTTGAATCAACCACTTGTATATAATGCTTTTTATATAAACAGAATATTGTATATACTACACTGCAACTTGCTCTTGTCATTTAATAATACTTCCAAGATATCTTTCCATATCTATGTATGGTTTACAGAATTTTAAAAATCTACTTTCTTTTTTTTTTGAGACAGGGTCTCACTGTCAACCAGGCTTGAGTGCAGTGGCGCGATCATGGCTTACTGCAGCCTTGACCTCCCAGGCGCAAGTGATCCTCCCAAGCAGCTGTGACTGCAGGCGCGTGCCACCATACCCAGCTCATTTTTTTTTTATTTTTTGTACAGACGGGATTTCACCATGTTGTCCAGGCTGGTCTCAAATTCCTAAACTCCCAGTCACGCCAGTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTGCGCCTTTTTTTTTTTTTTTTTTTTTTAAAAAGAGTTTCGCTCTGTCAGCCAGGCTAGAATGCAGTGTTGCAGTCTCGGCTCACTGCGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATGAAGCCCGGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTTACCACATTGGCGAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCACATGCCGGGCCTTAATCCACTTCCTGTTCACTTTTTTTTTTCTTTTTTCAAGCAACCCCAGCCTGAGAATAACCCACATTCTATTCTGAAAATGTTTTCTTTTCATAATGCACATCAGTTGTGCCTCATATTCTAAGATGTGTGTACTATCTAAACACTTAGAATAAAGTTTATAAAAGTCATTAGTTAAATATTGTGTTCTGCTTGTTTTATAGAGATATCACTGATATAAATACTATTTGGTATTTTATGAACATTTTTCTAAATGGAAAGTTCTTAATTTACCAGTGAGGGACGGGCAATAGGATAGATTAAAAAATAGCTTTTATTCAATATCAGTAACATAGAAGTTAATGAGAGACAAATTCCAACTCTAATTAGATGACCCATATTCTGTTTCTTACTAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTAAAGTACAGAATTCATACTCTCAAAAAGACCTAATTGTAAGCAATGTTTTATATAATCATGAAAGTTTTAAGCCAAAATATATTTATTACTGTGAAAAGATAACTACTAACTCTTAGTTTAACTCATTAGTGTACTTAATGTAATAACAGTTTATAGTATTATAGAGGAGACTAAATTAAGCAAATTATAGTTGAGAGGTGTAGCCCATAGGTGGAGGAAAAAATAGTCACAAATATTGTAACAAAATAATCCATTTCTATTAGTATAGTATAAAAGAGTATGAAAACAAAATTTAGAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATNNNNNN | benign | 96,992 |
Considering the genetic mutation at chromosome 5, position 112835188, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCTGGCCGCCTGGCTACTTTTTATATTTTTTGTAGAGATTGGGTATTGCTGTGTTGCCCAGGCTGGTTTTTAACTCCTAGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCCTGAAGGCATGAGCCACCACACCCAGCACATGGCAAGTTTTGACCAAATACCTTTAATTGTGTATCAGAGTGTTTCTGTGGCCATTACAATTTGACAGTTGACTTTGATAATTGTATGTTAGGGAGTTCCAGGTTTTCATAATTTGTTATGTGGGGAATTTTAAGAAATTATAGCTTTTCTAGTACCCTTTATTGTTTTTATAAATTACATTGTTAATTTTGAATCAACCACTTGTATATAATGCTTTTTATATAAACAGAATATTGTATATACTACACTGCAACTTGCTCTTGTCATTTAATAATACTTCCAAGATATCTTTCCATATCTATGTATGGTTTACAGAATTTTAAAAATCTACTTTCTTTTTTTTTTGAGACAGGGTCTCACTGTCAACCAGGCTTGAGTGCAGTGGCGCGATCATGGCTTACTGCAGCCTTGACCTCCCAGGCGCAAGTGATCCTCCCAAGCAGCTGTGACTGCAGGCGCGTGCCACCATACCCAGCTCATTTTTTTTTTATTTTTTGTACAGACGGGATTTCACCATGTTGTCCAGGCTGGTCTCAAATTCCTAAACTCCCAGTCACGCCAGTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTGCGCCTTTTTTTTTTTTTTTTTTTTTTAAAAAGAGTTTCGCTCTGTCAGCCAGGCTAGAATGCAGTGTTGCAGTCTCGGCTCACTGCGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATGAAGCCCGGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTTACCACATTGGCGAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCACATGCCGGGCCTTAATCCACTTCCTGTTCACTTTTTTTTTTCTTTTTTCAAGCAACCCCAGCCTGAGAATAACCCACATTCTATTCTGAAAATGTTTTCTTTTCATAATGCACATCAGTTGTGCCTCATATTCTAAGATGTGTGTACTATCTAAACACTTAGAATAAAGTTTATAAAAGTCATTAGTTAAATATTGTGTTCTGCTTGTTTTATAGAGATATCACTGATATAAATACTATTTGGTATTTTATGAACATTTTTCTAAATGGAAAGTTCTTAATTTACCAGTGAGGGACGGGCAATAGGATAGATTAAAAAATAGCTTTTATTCAATATCAGTAACATAGAAGTTAATGAGAGACAAATTCCAACTCTAATTAGATGACCCATATTCTGTTTCTTACTAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTAAAGTACAGAATTCATACTCTCAAAAAGACCTAATTGTAAGCAATGTTTTATATAATCATGAAAGTTTTAAGCCAAAATATATTTATTACTGTGAAAAGATAACTACTAACTCTTAGTTTAACTCATTAGTGTACTTAATGTAATAACAGTTTATAGTATTATAGAGGAGACTAAATTAAGCAAATTATAGTTGAGAGGTGTAGCCCATAGGTGGAGGAAAAAATAGTCACAAATATTGTAACAAAATAATCCATTTCTATTAGTATAGTATAAAAGAGTATGAAAACAAAATTTAGAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAG | AGTAGCTGGACCTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTCACCTAGGCTGGAGTATAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCGGGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGATCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGTGCACCTTGGCCCCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCGCCTGGCCGCCTGGCTACTTTTTATATTTTTTGTAGAGATTGGGTATTGCTGTGTTGCCCAGGCTGGTTTTTAACTCCTAGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGCCTGAAGGCATGAGCCACCACACCCAGCACATGGCAAGTTTTGACCAAATACCTTTAATTGTGTATCAGAGTGTTTCTGTGGCCATTACAATTTGACAGTTGACTTTGATAATTGTATGTTAGGGAGTTCCAGGTTTTCATAATTTGTTATGTGGGGAATTTTAAGAAATTATAGCTTTTCTAGTACCCTTTATTGTTTTTATAAATTACATTGTTAATTTTGAATCAACCACTTGTATATAATGCTTTTTATATAAACAGAATATTGTATATACTACACTGCAACTTGCTCTTGTCATTTAATAATACTTCCAAGATATCTTTCCATATCTATGTATGGTTTACAGAATTTTAAAAATCTACTTTCTTTTTTTTTTGAGACAGGGTCTCACTGTCAACCAGGCTTGAGTGCAGTGGCGCGATCATGGCTTACTGCAGCCTTGACCTCCCAGGCGCAAGTGATCCTCCCAAGCAGCTGTGACTGCAGGCGCGTGCCACCATACCCAGCTCATTTTTTTTTTATTTTTTGTACAGACGGGATTTCACCATGTTGTCCAGGCTGGTCTCAAATTCCTAAACTCCCAGTCACGCCAGTCAGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGTTGCGCCTTTTTTTTTTTTTTTTTTTTTTAAAAAGAGTTTCGCTCTGTCAGCCAGGCTAGAATGCAGTGTTGCAGTCTCGGCTCACTGCGACCTCTGCCTCCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCATGAAGCCCGGCTAATTTTTTTTTGTATTTTTGTAGAGACGGGGTTTTACCACATTGGCGAGGCTGGTCTTGAACTCCTGACCTCAGATGATCCACCCGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCGGCCACATGCCGGGCCTTAATCCACTTCCTGTTCACTTTTTTTTTTCTTTTTTCAAGCAACCCCAGCCTGAGAATAACCCACATTCTATTCTGAAAATGTTTTCTTTTCATAATGCACATCAGTTGTGCCTCATATTCTAAGATGTGTGTACTATCTAAACACTTAGAATAAAGTTTATAAAAGTCATTAGTTAAATATTGTGTTCTGCTTGTTTTATAGAGATATCACTGATATAAATACTATTTGGTATTTTATGAACATTTTTCTAAATGGAAAGTTCTTAATTTACCAGTGAGGGACGGGCAATAGGATAGATTAAAAAATAGCTTTTATTCAATATCAGTAACATAGAAGTTAATGAGAGACAAATTCCAACTCTAATTAGATGACCCATATTCTGTTTCTTACTAGGAATCAACCCTCAAAAGCGTATTGAGTGCCTTATGGAATTTGTCAGCACATTGCACTGAGAATAAAGCTGATATATGTGCTGTAGATGGTGCACTTGCATTTTTGGTTGGCACTCTTACTTACCGGAGCCAGACAAACACTTTAGCCATTATTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTAAAGTACAGAATTCATACTCTCAAAAAGACCTAATTGTAAGCAATGTTTTATATAATCATGAAAGTTTTAAGCCAAAATATATTTATTACTGTGAAAAGATAACTACTAACTCTTAGTTTAACTCATTAGTGTACTTAATGTAATAACAGTTTATAGTATTATAGAGGAGACTAAATTAAGCAAATTATAGTTGAGAGGTGTAGCCCATAGGTGGAGGAAAAAATAGTCACAAATATTGTAACAAAATAATCCATTTCTATTAGTATAGTATAAAAGAGTATGAAAACAAAATTTAGAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGN | benign | 96,993 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112837537—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCT | GAACAAGACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTNN | benign | 96,997 |
Classify the chromosome 5 variant at position 112837544 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCA | ACAAAAACTATGAGCGTGATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCANNNNNNNNNNNNN | pathogenic | 97,001 |
Does the chromosome 5 mutation at position 112837561 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAG | GATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGNN | pathogenic | 97,010 |
Variant at chromosome 5, position 112837562, gene APC (APC regulator of WNT signaling pathway): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGG | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGNN | pathogenic | 97,011 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112837562—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGG | ATCCAGAGAATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGNNNN | pathogenic | 97,012 |
Variant chromosome 5, position 112837570, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGT | AATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAAAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTN | pathogenic | 97,015 |
Is the variant located on chromosome 5 at position 112837571, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTT | ATATAAAGGTTCACATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTN | pathogenic | 97,016 |
Clinical classification of chromosome 5, position 112837585, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1'] | ATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCA | ATTTTTCTAATGATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCANN | pathogenic | 97,021 |
Evaluate this variant at chromosome 5, position 112837597, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAA | ATGTCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACATTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAN | pathogenic | 97,027 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112837600: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1'] | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCT | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGC | pathogenic | 97,030 |
Is the genetic change at chromosome 5, position 112837600, within gene APC (APC regulator of WNT signaling pathway) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCT | TCTTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTN | pathogenic | 97,031 |
A genetic variant on chromosome 5, position 112837602, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGT | TTAGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTATAGTTTTGTAATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGC | pathogenic | 97,032 |
Mutation found at chromosome 5 position 112837604, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTG | AGTATCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAACTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGN | pathogenic | 97,033 |
Mutation found at chromosome 5 position 112837608, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATT | TCCATAATAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTNN | pathogenic | 97,035 |
Gene mutation in APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112837621—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCG | TTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGNNNN | pathogenic | 97,037 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112837642—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGT | ACAGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTNN | pathogenic | 97,043 |
Evaluate this variant at chromosome 5, position 112837644, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | AGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGC | AGGGTCTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCNN | pathogenic | 97,045 |
A genetic variant on chromosome 5, position 112837649, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGA | CTCACTCTGTCTCCCAGACTGGAGGGCAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGAN | pathogenic | 97,048 |
Mutation found at chromosome 5 position 112837675, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTAT | CAGTGTTGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATN | pathogenic | 97,051 |
The genetic variant at chromosome 5, position 112837693, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTC | TCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACCATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACT | pathogenic | 97,059 |
Considering the variant on chromosome 5, location 112837696, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATG | CTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCCACCTCAGCTTCCCAACAAGCTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCAT | pathogenic | 97,061 |
Does the chromosome 5 mutation at position 112837752 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | CTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGC | CTGGGACTACAGATGCACGCCACAACACCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCNNNNNNNNNN | pathogenic | 97,071 |
Does the variant on chromosome 5 at location 112837779 affecting gene APC (APC regulator of WNT signaling pathway) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAG | CCCGGCTAATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGN | pathogenic | 97,077 |
Mutation at chromosome 5, position 112837786, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | AATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATG | AATTTTTCTATTTTTTGGTAGAGATGGGGTTTCACAATGTTGTCCAGCTGCTCTTGAACTCCTGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGN | pathogenic | 97,079 |
Assess the variant on chromosome 5, position 112837848, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAG | TGGCCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGNN | pathogenic | 97,093 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112837851—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAG | CCTCCAGTGACCCACCTGTCTCAGCCTCCCTAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCTGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGN | pathogenic | 97,094 |
Variant on chromosome 5, at position 112837897, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGA | AGGTGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCATTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAN | pathogenic | 97,110 |
For chromosome 5, position 112837900, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAA | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTAATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGA | pathogenic | 97,112 |
Considering the variant on chromosome 5, location 112837900, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAA | TGTGAGCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTCTCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAN | pathogenic | 97,113 |
Does the genetic variant at chromosome 5, position 112837905, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACC | GCCACCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCN | pathogenic | 97,118 |
Assess the variant on chromosome 5, position 112837909, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAA | CCGCGCCCGGCCAATAATCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAN | pathogenic | 97,119 |
Regarding the variant found on chromosome 5 at position 112837926 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGC | TCATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCNNNN | pathogenic | 97,124 |
Mutation at chromosome 5, position 112837927, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCT | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGC | pathogenic | 97,125 |
For chromosome 5, position 112837927, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCT | CATAATATTATTTAGCTAACAGCCATTCATCCAATCTGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTN | pathogenic | 97,126 |
Evaluate if the mutation on chromosome 5 at position 112837963 in APC (APC regulator of WNT signaling pathway) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Hereditary_cancer-predisposing_syndrome'] | TGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTA | TGCTAGAGTTGTAAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTANN | pathogenic | 97,133 |
Determine if the mutation at chromosome 5, position 112837975 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome'] | AAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTT | AAAACCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTNN | pathogenic | 97,138 |
Assess the variant on chromosome 5, position 112837979, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGA | CCCAAGAGAGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGANN | pathogenic | 97,140 |
Does the variant on chromosome 5 at location 112837987 affecting gene APC (APC regulator of WNT signaling pathway) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAG | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCA | pathogenic | 97,144 |
Mutation found at chromosome 5 position 112837987, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAG | AGTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGN | pathogenic | 97,145 |
Gene APC (APC regulator of WNT signaling pathway) variant at chromosome 5, position 112837988—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGG | GTGCTTCAGATACAGGGCACACATTTTCAGAACTCGGATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGNN | pathogenic | 97,146 |
Determine if the mutation at chromosome 5, position 112838025 in gene APC (APC regulator of WNT signaling pathway) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCAC | ATGCTGTATTATATCAACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACNNNN | pathogenic | 97,155 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112838041, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGAT | ACAAAAATACAACTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGA | pathogenic | 97,160 |
Clinical classification of chromosome 5, position 112838060, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCA | TTTTTTTTTTTTTTTTTTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTATCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCC | pathogenic | 97,165 |
A genetic variant on chromosome 5, position 112838076, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAG | TTTTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATATACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGN | pathogenic | 97,176 |
Benign or pathogenic: chromosome 5, position 112838078, gene APC (APC regulator of WNT signaling pathway) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCC | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTCAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCN | pathogenic | 97,178 |
Is the variant located on chromosome 5 at position 112838078, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCC | TTTTTTCTTGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCNN | pathogenic | 97,179 |
Does the genetic variant at chromosome 5, position 112838086, impacting gene APC (APC regulator of WNT signaling pathway), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAG | TGAGATGGAGTCTTGCACTCTTGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTAACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGA | pathogenic | 97,182 |
Mutation found at chromosome 5 position 112838107, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTG | TGCCCGGGCTGGAGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGNNNNNNNNNNNNN | pathogenic | 97,190 |
Assess the variant on chromosome 5, position 112838119, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATA | AGTACAGTGGCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATANNNN | pathogenic | 97,194 |
Does the chromosome 5 mutation at position 112838128 within gene APC (APC regulator of WNT signaling pathway) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCA | GCACAATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAN | pathogenic | 97,195 |
The mutation impacting APC (APC regulator of WNT signaling pathway) on chromosome 5 at position 112838133: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCA | ATCTTTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTC | pathogenic | 97,198 |
A genetic variant on chromosome 5, position 112838137, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['APC-related_disorder', 'Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAA | TTGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAANNNN | pathogenic | 97,200 |
Clinical significance of chromosome 5, position 112838139, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Classic_or_attenuated_familial_adenomatous_polyposis', 'Familial_adenomatous_polyposis_1'] | GCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAA | GCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAANN | pathogenic | 97,202 |
Is the variant located on chromosome 5 at position 112838150, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGA | CCTCTGCCTTTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGANN | pathogenic | 97,208 |
Is the genetic variant on chromosome 5, position 112838160, gene APC (APC regulator of WNT signaling pathway), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_adenomatous_polyposis_1'] | TGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGA | TGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAG | pathogenic | 97,213 |
Mutation at chromosome 5, position 112838162, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAAT | GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATN | pathogenic | 97,216 |
Variant on chromosome 5, at position 112838175, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAA | TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAANNNNNNNNNNNNNN | pathogenic | 97,221 |
Located at chromosome 5 position 112838181, the variant affecting gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATC | GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTAACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAAT | pathogenic | 97,226 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112838182: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCA | CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCANNNNNNNN | pathogenic | 97,227 |
Assess the variant on chromosome 5, position 112838212, impacting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAA | GTCCCCCCCCCCCCCCGCCACCGTGCCCGGCTAATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTTGCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAN | pathogenic | 97,233 |
Classify the chromosome 5 variant at position 112838245 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGAT | ATTTTTATATTTTTAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGA | pathogenic | 97,248 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112838258: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATG | TAGTAGAGACGGGGCTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGNN | pathogenic | 97,256 |
For chromosome 5, position 112838273, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAG | TTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAA | pathogenic | 97,262 |
Classify the chromosome 5 variant at position 112838275 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAA | CACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGGTATGCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAG | pathogenic | 97,263 |
Clinically, how would you classify the variant at chromosome 5, position 112838277, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGA | CCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAG | pathogenic | 97,264 |
Variant at chromosome position 112838290, chromosome 5, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCT | GCTGGCCTTGAACTCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTNN | pathogenic | 97,268 |
Variant in APC (APC regulator of WNT signaling pathway), chromosome 5, position 112838303—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAA | TCCTGACCTTAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAANN | pathogenic | 97,272 |
The mutation in gene APC (APC regulator of WNT signaling pathway) at chromosome 5, position 112838329—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | TCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCA | TCGGCCTCCCAAAGTGCTGGGATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTCATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAN | pathogenic | 97,279 |
Considering the variant on chromosome 5, location 112838350, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTA | ATTATAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTAN | pathogenic | 97,285 |
Considering the variant on chromosome 5, location 112838354, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTC | TAGGCATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCT | pathogenic | 97,287 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 112838358, gene APC (APC regulator of WNT signaling pathway). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACC | CATGGGCTACTGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACCTTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCA | pathogenic | 97,290 |
Chromosome 5, position 112838368, gene APC (APC regulator of WNT signaling pathway): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGG | TGCGCCTAGCCAAAAATATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAA | pathogenic | 97,291 |
Evaluate this variant at chromosome 5, position 112838384, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Familial_multiple_polyposis_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGC | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACGTGTATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCT | pathogenic | 97,296 |
Regarding the variant at chromosome 5 and position 112838384, affecting gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGC | TATGGTTGTTTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCNNNN | pathogenic | 97,297 |
A genetic variant on chromosome 5, position 112838393, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACA | TTTTTATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACANNNN | pathogenic | 97,300 |
Does the variant impacting APC (APC regulator of WNT signaling pathway) on chromosome 5, position 112838397, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACT | TATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTAACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAAC | pathogenic | 97,302 |
Clinical significance of chromosome 5, position 112838398, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTT | ATAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTAAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTN | pathogenic | 97,303 |
Mutation at chromosome 5, position 112838399, within APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTC | TAGCTTATTCATTTTTTAAGTCTGTGATGCAGAAACTACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCN | pathogenic | 97,307 |
Classify the chromosome 5 variant at position 112838436 affecting gene APC (APC regulator of WNT signaling pathway) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGT | ACAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTN | pathogenic | 97,320 |
Considering the variant on chromosome 5, location 112838437, involving gene APC (APC regulator of WNT signaling pathway), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTT | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATG | pathogenic | 97,321 |
Located at chromosome 5 position 112838437, the variant affecting gene APC (APC regulator of WNT signaling pathway)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_adenomatous_polyposis_1'] | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTT | CAAGCCTAGTCTCCCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCA | pathogenic | 97,322 |
Mutation found at chromosome 5 position 112838450, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | CCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGG | CCTTTCTGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCG | pathogenic | 97,326 |
Regarding the variant found on chromosome 5 at position 112838456 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATG | TGCTATACAGAGAAGATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGN | pathogenic | 97,331 |
Variant on chromosome 5, at position 112838470, affecting APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTG | GATTTCTTAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 97,336 |
Considering the genetic mutation at chromosome 5, position 112838477, impacting APC (APC regulator of WNT signaling pathway): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_adenomatous_polyposis_1'] | TAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTG | TAAGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGN | pathogenic | 97,339 |
Is the genetic mutation found on chromosome 5 at position 112838479, within the gene APC (APC regulator of WNT signaling pathway), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTT | AGTCCAGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTNNNNN | pathogenic | 97,340 |
Chromosome 5, position 112838484, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | AGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGG | AGTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGNNNN | pathogenic | 97,342 |
For chromosome 5, position 112838485, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGG | GTAACTACTGGACTGCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGN | pathogenic | 97,343 |
Is the chromosome 5, position 112838499 variant in APC (APC regulator of WNT signaling pathway) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTT | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTACGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACT | pathogenic | 97,350 |
A genetic variant on chromosome 5, position 112838499, affects the gene APC (APC regulator of WNT signaling pathway). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_adenomatous_polyposis_1'] | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTT | GCTAAGAGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATA | pathogenic | 97,351 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 112838505, gene APC (APC regulator of WNT signaling pathway): what disease(s) if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1'] | AGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCAC | AGAAGACGACCATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGAATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCA | pathogenic | 97,352 |
Is the genetic mutation found on chromosome 5 at position 112838516, within the gene APC (APC regulator of WNT signaling pathway), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTC | ATGTTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCN | pathogenic | 97,356 |
Evaluate if the mutation on chromosome 5 at position 112838519 in APC (APC regulator of WNT signaling pathway) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAA | TTAAAGCTCATTATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAANN | pathogenic | 97,357 |
Mutation found at chromosome 5 position 112838531, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1'] | ATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAA | ATGTACCCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAANN | pathogenic | 97,361 |
Regarding the variant found on chromosome 5 at position 112838537 in gene APC (APC regulator of WNT signaling pathway): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | CCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAAT | CCTTGCCATTCAGTTTTAAAGCCCACTAAAGCTGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATN | pathogenic | 97,362 |
Variant in gene APC (APC regulator of WNT signaling pathway), located at chromosome 5 position 112838569: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | TGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGA | TGAATATGCTGTCATTAATCTTCAGTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGG | pathogenic | 97,369 |
Clinically, how would you classify the variant at chromosome 5, position 112838593, gene APC (APC regulator of WNT signaling pathway): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_adenomatous_polyposis_1', 'Hereditary_cancer-predisposing_syndrome'] | GTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGT | GTTTGCCTGCGTTAAACAAGCTGTTGCTCTTTCATGTCCAGAGTTCATTATGCTGATTCTCACTCCTTGTTTTTATATGCCTTAAATGTTTCAAAAACTTTAATTTACTTGATTTTTTAAAAATAATAAGCACACAGTCTGCCAAAGAGCAGTTTTTCTTTTCTTTTTTTTCTTTTTTTTGAGATGGAGTCTCACTCTGTTGTCCAGGTTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTAATCTCAGGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGTGTCTGGCCAAGAGCACTCGTAAGAAGGATGGCAGTATCACAAAATCAAGCCAGAGATACAGAGATTACTCTAAAAAGTAAGTGTTCTAATCTAAGAGCTTATAATGTGCACTGACTGCAGAAAAATCTTCAATCAATTCTATCTACCTCTTCCAAGATAACTCAATATCAATATCAGAGTGGCACCCAACCATAGATTAAATTACCACAAAGTTCCTATTCAACATAGGATTTCATGATATAGTTTTTAAATTGGGAAACTGTTATATGAATAGAGTAAATGTATGTGCCCCACCCCCTGCAAATGTTTTAAGCTATTGGGTCAGAATAGGAAATGTAGAATTGACAAAAAATAACACCTTTACTTTTTTTAGTGTGACAGATTAGTACTTTAAAACATTAAACATTACATGAAATTAGAACAAAAGGAGATGTGGAATACTTGGAATTTATAGGATAATTGGTACAATCATATTATGCCTTTTGTCTTCTATCCTTTTATTTGTTGTTACTGCATACACATTGTGACCTTAATTTTGTGATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAACTGTCTACAAACTTTATTACAACACTTAAAATCTCATAGTTTGACAATAGTCAGTAATGCATGTGGAACTTTGTGGAATCTCTCAGCAAGAAATCCTAAAGACCAGGAAGCATTATGGGACATGGGGGCAGTTAGCATGCTCAAGAACCTCATTCATTCAAAGCACAAAATGATTGCTATGGGAAGTGCTGCAGCTTTAAGGAATCTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTTAAGTCCCAAGGCATCTCATCGTAGTAAGCAGAGACACAAGCAAAGTCTCTATGGTGATTATGTTTTTGACACCAATCGACATGATGATAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGAGGAAGCTTAGATAGTTCTCGTTCTGAAAAAGATAGAAGTTTGGAGAGAGAACGCGGAATTGGTCTAGGCAACTACCATCCAGCAACAGAAAATCCAGGAACTTCTTCAAAGCGAGGTTTGCAGATCTCCACCACTGCAGCCCAGATTGCCAAAGTCATGGAAGAAGTGTCAGCCATTCATACCTCTCAGGAAGACAGAAGTTCTGGGTCTACCACTGAATTACATTGTGTGACAGATGAGAGAAATGCACTTAGAAGAAGCTCTGCTGCCCATACACATTCAAACACTTACAATTTCACTAAGTCGGAAAATTCAAATAGGACATGTTCTATGCCTTATGCCAAATTAGAATACAAGAGATCTTCAAATGATAGTTTAAATAGTGTCAGTAGTAGTGATGGTTATGGTAAAAGAGGTCAAATGAAACCCTCGATTGAATCCTATTCTGAAGATGATGAAAGTAAGTTTTGCAGTTATGGTCAATACCAGCCGACCTAGCCCATAAAATACATAGTGCAAATCATATGGATGATAATGATGGAGAACTAGATACACCAATAAATTATAGTCTTAAATATTCAGATGAGCAGTTGAACTCTGGAAGGCAAAGTCCTTCACAGAATGAAAGATGGGCAAGACCCAAACACATAATAGAAGATGAAATAAAACAAAGTGAGCAAAGACAATCAAGGAATCAAAGTACAACTTATCCTGTTTATACTGAGAGCACTGATGATAAACACCTCAAGTTCCAACCACATTTTGGACAGCAGGAATGTGTTTCTCCATACAGGTCACGGGGAGCCAATGGTTCAGAAACAAATCGAGTGGGTTCTAATCATGGAATTAATCAAAATGTAAGCCAGTCTTTGTGTCAAGAAGATGACTATGAAGATGATAAGCCTACCAATTATAGTGAACGTTACTCTGAAGAAGAACAGCATGAAGAAGAAGAGAGACCAACAAATTATAGCATAAAATATAATGAAGAGAAACGTCATGTGGATCAGCCTATTGATTATAGTTTAAAATATGCCACAGATATTCCTTCATCACAGAAACAGTCATTTTCATTCTCAAAGAGTTCATCTGGACAAAGCAGTAAAACCGAACATATGTCTTCAAGCAGTGAGAATACGTCCACACCTTCATCTAATGCCAAGAGGCAGAATCAGCTCCATCCAAGTTCTGCACAGAGTAGAAGTGGTCAGCCTCAAAAGGCTGCCACTTGCAAAGTTTCTTCTATTAACCAAGAAACAATACAGACTTATTGTGTAGAAGATACTCCAATATGTTTTTCAAGATGTAGTTCATTATCATCTTTGTCATCAGCTGAAGATGAAATAGGATGTAATCAGACGACACAGGAAGCAGATTCTGCTAATACCCTGCAAATAGCAGAAATAAAAGAAAAGATTGGAACTAGGTCAGCTGAAGATCCTGTGAGCGAAGTTCCAGCAGTGTCACAGCACCCTAGAACCAAATCCAGCAGACTGCAGGGTTCTAGTTTATCTTCAGAATCAGCCAGGCACAAAGCTGTTGAATTTTCTTCAGGAGCGAAATCTCCCTCCAAAAGTGGTGCTCAGACACCCAAAAGTCCACCTGAACACTATGTTCAGGAGACCCCACTCATGTTTAGCAGATGTACTTCTGTCAGTTCACTTGATAGTTTTGAGAGTCGTTCGATTGCCAGCTCCGTTCAGAGTGAACCATGCAGTGGAATGGTAAGTGGCATTATAAGCCCCAGTGATCTTCCAGATAGCCCTGGACAAACCATGCCACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAAACCAAGCGAGAAGTACCTAAAAATAAAGCACCTACTGCTGAAAAGAGAGAGAGTGGACCTAAGCAAGCTGCAGTAAATGCTGCAGTTCAGAGGGTCCAGGTTCTTCCAGATGCTGATACTTTATTACATTTTGCCACGGAAAGTACTCCAGATGGATTTTCTTGTTCATCCAGCCTGAGTGCTCTGAGCCTCGATGAGCCATTTATACAGAAAGATGTGGAATTAAGAATAATGCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAATCAGAGCAGCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAAAAACTATTGATTCTGAAAAGGACCTATTAGATGATTCAGATGATGATGATATTGAAATACTAGAAGAATGTATTATTTCTGCCATGCCAACAAAGTCATCACGTAAAGCAAAAAAGCCAGCCCAGACTGCTTCAAAATTACCTCCACCTGTGGCAAGGAAACCAAGTCAGCTGCCTGTGTACAAACTTCTACCATCACAAAACAGGTTGCAACCCCAAAAGCATGTTAGTTTTACACCGGGGGATGATATGCCACGGGTGTATTGTGTTGAAGGGACACCTATAAACTTTTCCACAGCTACATCTCTAAGTGATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGAGAAGGAGTTAGAGGAGGGGCACAGTCAGGTN | pathogenic | 97,376 |
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