ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_23300 | The variant affects gene GP1BA (glycoprotein Ib platelet subunit alpha), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pseudo von Willebrand disease | GAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGG | GAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATTGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGG |
Task1_train_23301 | Consider a variant on Chromosome 17 in gene GP1BA (glycoprotein Ib platelet subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; Pseudo von Willebrand disease | ACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCT | ACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGATGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCT |
Task1_train_23302 | Mutation context: Chromosome 17, Gene GP1BA (glycoprotein Ib platelet subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Pseudo von Willebrand disease | AAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCTTGAACCCAGGAGTTTGGCCCAGGCTTGGCAACATGGCAAAACCCGAC | AAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAAATAAAGTAAGATCACAGTGGAGAAGTTTCCCATGGATGTAGAGGAGGGAGAGCATTAAAGACCTTGGTAAGAACCGAGTCAATGGAGTAGCAGGGGAAAGAAATCAGCATAGACTGGGGTGAGAAGGCAGAGAGAAAGGTGGGAGAGAATTAAAAGTAGGCAACTCTCAGAATGCAGCTGTGAAGAGGAAGAGAAGCGGGCATCTGGAGAGGTTTTTTTGTTTTTAAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACCGCAACCTCTTTCCACCTCCCGGTTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATGTATTTTTAGTAGAGACAGGGTTTCCCCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACGCGCCCGGCCCTGGAGAGGTTTTTAAAAGATGGCAGAAGGCTGTTTGGAGGAGTCCACCCCCATCTCCCCTGTGTAAAAGGAAAGCGGAAGAGAGAACCACAAAGAGGGCCTGGGGGAAAGCCGTGGAGTGAGGCGATAAGGGCTTGTGTCCAGGGGATTCCCGGTCACTGGAATCCCTATCAGGCCTGCATTTCCTCCTCACCCCCATCCCCTTCCTTGCCACTGGCTTAGTCCTCCATGGGGCTAGAAGAGAGAAGGACGGAGTCGAGTGGCACCCTAGAAGACGCTCTGTGCCTTCGGAGGTCTTTCTGCCTGCCTGTAAGCCGGGGTTGGTGCTGGGGCAGGAGAGGGGTCTGAGGGAGGGGAAAGAGCCAAGGACCTGGAGCTAGTAGTTTTAAGTTCTGCAGGCAAGGGTGGGAGATGGGAGTAGGGAGGACAGGAGGTGTGGATGCTGTTTCTGGAAGCGAAGCTGCAGGGGGAAGGGGGCTGGGGCCTGGGGGGATGCTTCCAGGGGATGCAGGGGGATCCACTCAAGGCTCCCTTGCCCACAGGTCCTCATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGTGAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCGCTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTACACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGGTGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTATCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTCCTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGCGAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCCGCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTGTATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGGAACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCTGAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCCAGTGTGCAGTGTTACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGCCCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACTGAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACAACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCCTCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACCCCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACTGAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACCACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACAAGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACTACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAGCCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTTCTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGGCTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCACAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTGGAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGTTCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGGCCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTGAGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGAGGGTGGGAGGTTTGGGGACCTTGAGAGAAGAGCCTGTGGGCTCTCCTATTGGAATCTAGTTGGGGGTTGGAGGGGTAAGGAACACAGGGTGATAGGGAGGGGTCTTAGTTCCTTTTTCTGTATCAGAAGCCCTGTCTTCACAACACAGGCACACAATTTCAGTCCCAGCCAAAGCAGAAGGGGTAATGACATGGACTTGGCGGGGGGACAAGACAAAGCTCCCGATGCTGCATGGGGCGCTGCCAGATCTCACGGTGAACCATTTTGGCAGAATACAGCATGGTTCCCACATGCATCTATGCACAGAAGAAAATCTGGAAAGTGATTTATCAGGATGTGAGCACTCGTTGTGTCTGGATGTTACAAATATGGGTGGTTTTATTTTCTTTTTCCCTGTTTAGCATTTTCTAGTTTTCCACTATTATTGTATATTATCTGTATAATAAAAAATAATTTTAGGGTTGGGAGTGATGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTAGGGAGTTCGAGACCAGCCTGGCAAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTATAACCCCAGCTACTCGGGAGGGTGGGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAAGTTGCCGTGAGCCAAGATCGTACCACTGAACTCCAGCCTGGGTAACAGAGTGAGACTCCGTCTAAAAAAAAAAAAAAAAAAAAAAAACTTCTGGCCGGGTGCAGGGGCTCATGCCTGTAATTCCAGCACTCTGGAAGGCTGAGGCGGGTGGGTTGCTTGAACCCAGGAGTTTGGCCCAGGCTTGGCAACATGGCAAAACCCGAC |
Task1_train_23303 | Chromosome 17 houses a mutation in gene SLC25A11 (solute carrier family 25 member 11). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Paragangliomas 6 | TCCAAGGCTTGGGGCCCAGAGAATGGGACTATGGAGACCCCCATCCCCCTCCAGATGGTCCTGAAGATCTCCCAAACCTGAAAGTCTGACCGAATCTCTCCCCAGGTGGAGGACCAACTCCTGAGCTTGGCAGTCAGGGAGTGCCAAGCACTGACCCCATCTGACAGTCCAGCTTCATCTCAAGGGAGATACCTCACAGTCTGTGCTCCAACTATCACAAGCCTATAGATCACCTGCTCCCCAACAGTGTTTTACTCTAAGCCTTTGCCCTCAGTCCAGCCAGGTGTGCTATCCTTGCCCCATCCCCAGCCAGTCTAACCACTCAGTCTGCAAGTCACTACTCCCAGGCGAGGCCAGGTGCTCCAAGTTACCCTGCAACACTATTGCTACACTCAGTTTCCCAACTGCTCCTGTATAATCTTGTCTTCTGGACCAGGAACTCCTTAAGGACAAGGTCTAGGCTTCAGGCATCTCACAATAGCCACCAAGGCGCAGGACAGTGTACACAGAGGCAGCAGCAGGGGCGCCAGGATGCTGAGCTCCACCTCTTCTGCTGATGAGGCTCTGCCAAAGGGACAGCTCCCACCTGCTGCCTGCCTGTCCCCTAGCCTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCG | TCCAAGGCTTGGGGCCCAGAGAATGGGACTATGGAGACCCCCATCCCCCTCCAGATGGTCCTGAAGATCTCCCAAACCTGAAAGTCTGACCGAATCTCTCCCCAGGTGGAGGACCAACTCCTGAGCTTGGCAGTCAGGGAGTGCCAAGCACTGACCCCATCTGACAGTCCAGCTTCATCTCAAGGGAGATACCTCACAGTCTGTGCTCCAACTATCACAAGCCTATAGATCACCTGCTCCCCAACAGTGTTTTACTCTAAGCCTTTGCCCTCAGTCCAGCCAGGTGTGCTATCCTTGCCCCATCCCCAGCCAGTCTAACCACTCAGTCTGCAAGTCACTACTCCCAGGCGAGGCCAGGTGCTCCAAGTTACCCTGCAACACTATTGCTACACTCAGTTTCCCAACTGCTCCTGTATAATCTTGTCTTCTGGACCAGGAACTCCTTAAGGACAAGGTCTAGGCTTCAGGCATCTCACAATAGCCACCAAGGCGCAGGACAGTGTACACAGAGGCAGCAGCAGGGGCGCCAGGATGCTGAGCTCCACCTCTTCTGCTGATGAGGCTCTGCCAAAGGGACAGCTCCCACCTGCTGCCTGCCTGTCCCCTAGCCTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGTCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCG |
Task1_train_23304 | This variant impacts the gene SLC25A11 (solute carrier family 25 member 11) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Paragangliomas 6 | CTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGC | CTGGCAAGCACTCCTCAGTTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCACGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGC |
Task1_train_23305 | This sequence variant lies in SLC25A11 (solute carrier family 25 member 11) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Paragangliomas 6 | TTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTCGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGCAGGGAGGGCGCAGAACTC | TTTGACCTTCCCAAACTCTCTTGTGCCCCAAGAGGTTTTAAGGCTCCTTGAAGGCTGGCCTGGGAACCACACATCTTCTAAAGAAATGGACAAGGTTCTCACTCTCCCCAGCCAAGGACCCAGATCAGGTCTCTGGCCAGCATTCCCCTTTCCTCAAGCTTCCAGTGCCCACCCACTTAAGCCCTGGCCTTCCACCTGCACTGCCTCCAGCCCACAGTGGTCTGACTTCCTCTCTAAGTCTCTTTATTTCCTCCCTCTTTAGGCTGCAGAAGCAGTCATCAGACCGAGGGGCTTTTCCTGGGGATTATGTGAGATGATCTGGGCATCGGTGGCATTCTTGGGCGAGTGGCTGGAGGAAACACACCGGGCCTGGGATTTGAGTTTTTCTGGCCCTGTCAGCTGCTGTGGCATGACAGATTTATACAGCATTTGCAAAAAACCAGCGGCTGCTTTTTCTTTAACAATTTTTCTTAAAAACTCCAGTTCCTATTCTCCAGCTTCTTTGTCCAGTCTCCTCCCCTCTCCTAGCCACCCCCCAGACTCTCCAGATTTGGGGCTGGTGTCATCAATCCAATTTATTAAGTCCTCAATGAGGGGGAGGAAGGGCCACATCTCCCTCTGCAGGCCCTTTGACCATCTTGATGGCTTCTGCTCCTCCCTGTCCCCTCAGCTCTGCCTTGGTTTCCCCACTGACAAAGGGGATCTTCTGCTGTCCTGTGTGCCCTGAAACTAAAACCCAGGGGGAGGCCAGAAATCCTCAGAAGTTTTCCAGCTCCCTGCAAGAATAGCCAAGGACAGAGAAATCACAGGATCAGGACGAGCAGGGCAAGCTGGAGCAGGGGGTAGAACAGACCAAGTCCTTTACCGCAGAGGAAGAAACCACACTGTGGAAGGGAAATAAATAGAGGGGTCCAGGGCAGCAGAGCCCAGGCCCCCAGGGCGCAGTGGCTATAGGCGCAGCAGGCGAGTGGGAGCCCCCGGCCGCTTCAGCCACTGAGGAAGAGACGCTTGTAGGCCTTGTTCATCTGCTCCAAGAAGATGAAGGTGAGGACGGTGTGGGGGCCCAGGCGGGCATAGTACGGCGTGAAGCCCTTCCACAGGCTGAAGAAGCCCTCGTAGCGGACAACTTTGAACAGCACGTCCTAGACACAGACAGGCAGGGCGCTGGGGCTAGGACTCTAGGTCCCCATCCCCCTCACCCAGCTGCCTTCACACCTTTCCCAGGGGATCCGACACCCCCTCCCAGGCCCCCAGAATGGCTTCCTCACCAGCCCGTTCTTGTATTCCGGCTTCCCATCAATCATCCGCATGTTCTGGATTCTGCAGGAGAGGACGCAGGGGCATGAGAGACCGAAAGGGCACCCTCCCACCCACCTCCAGGCCCAGGCTGCACACTCACCGGGTCTTGGCAATGTCCACAGGCATGGAGGCAGCAGTGGTGACAAGACCGCTGATCATGCTGGCACAGAAGTGGCACAAGATGTTGTCAGAGAAGTAGCCTGGGGGAGGTGAGGCGGGGGTGGCAGTCAGCTCAGAGGTGGCTCAGGCCAGGCTGGGAACTAAGGGCCCAGCTCTGGATCTCACCTGAGTCCAGTAAGAACTGCTTGGATTGGGAGTAGGAGGCGAGCTGGGCAGCATTGACGACGACGGCCCGAGCCATGGTAGGGATGCAGCCCTGGAGGGAGGGGAGCGGGGAAGAGTCAGAAACCCCTAAAACCAGACCTCACAGCCCCCAAGTCTCCAGCCCCTCCACTCACCCGCCACAGTGTGAGGACACCCTCTTCCCGGGTGATTCGAATCAGGGCGTTAAACACATTTTTGTAGCCACGGCGCTGGTCAGCTGGAAGCCTGGTGGGAAGGCAGAAAGAGGTCAAGATCAGGATTGCCCACAGGTGCAAAGAAAGGAAGGCCAGAACAGGTAAACACTCTGCTCCAGATCCGGGATAAAAAACTGGTCCTTTCATTCTAGATTCGAGGGAATGGGGCTGGGGTTAGGTTCAGACTTGGAACTCACCGGCCATCGGCAGTCATGCGGATAAGAGCCACTTTGGCTGGTGTTCCCACAAAGGCACCAGTGGCACCTGCGGTCATGCCAATCACAGCCTTCAGCAGAAAGCCAGGGGGAGTACCATCAGCCCCAGTCAGGCGCTCAAACAGCACGGTATAGATGCCAAGGCGGGTAGTGGTGTAGGTGGCCTGACGCAGCAGGCCAGCCGACAGCCTGAGGAGCAGAGGGGTCAGCATATCAGGCCAAGGTCTAGAGCTGCCAACCCACAGTCTACCCTCCATCCTGAGGCCCCAATACCCAGTGTAAATGCCCCTCAGGCCTTCTGCCTTCAGGATACTGGTGAGGGCATGGAAGCTGGTTTTGTACTCTCGAGTCTTGGCCCCTTCCCCGCTCAACTGCATCCGGTTCTTCACCAGGTCCAGGGGCTGGACAAAAACTGTAGCTCCCATCCTGGGGGAAGACAGAGGTGGAGTGAAGGGCCAGGCATTCCAGATCTACCAGTGCCCACTGGAGCCTGGCAGCAAGAGGTTACAAAGGTCAGGGCCTGCCATGCGATTCAAGAATCAGGATGCTGGTGAGCATGTGTATAAGAGTCTATATGTACACCAAGTGCAACGGGTCTGAAAAGTCTAGTTGTCCAGTAGGGGCCATGCAATGAAAGTGCTCCAAGCAGCTTCATGACAGTCAAGCAGTGACCTGGGGCTGCACGCAGTCCGACACAGGGAGGGGAGGAAGGGGCATCCAAGATTTAGGACTCCAGGTAGTCCTGCAGGAGCCATTTAATGGCCTGGAACCCCCTGCCGCCCGGCCGAGCTTAGCAATGCGCTGGGAAACTCAGCTGGCCCGGCGGGGGTTGTGCAACGACCCTGCATGCAGTCCATAAGGGTCCTGCAATGGGGCCCTAGCAGCCCATCGGGGAACTCGCAATACGCTGGAGATCGCGCTGACCCCGTGCCGGCACAGTTCACTGCAACAGACCCAGAGATGAACCGGGCCCGGTTCCTTTTGCCCTTCCCTTCCTCCTCTTTTCCCATCCCTGGGGCCTGAGCTTACCCGGCCAGGCCCCCAAACAGGAACTTGACGGACTTAGGGGAGGTACGGGGCTTCCCGTCTATCCCGCCGGCCCCGGCACTCGCCGTCGCCGCCATCGCCACTCAATGGCCCTCGGCTCCGGGTCCCGTGCGCGCGCGGCCCCGCTCGCGCCCAAGGTGACACCGCGCGCGCAACAGAGCGAGGGCGCGCGCACGCCCCTCCAGCTCTCAGGTCCGACACCCGCTGGAAGCCGGCGCGGGCGCAGGCGCGCAGCGCAAAGGCGGCCGGGAGTAAGGCGGAGCTGAAGGAGGAGCTTGATGGAAGCGTGCGAGAAGGGGCGTAACTGATTTGGAAACCAGAGGAAAGGCGCTGTTTTCACCGAATTAGAATCGCGGGAAAATAGAGAAGAGTTTGTTTGAAGGTCTCGCGAGATCGAGTGAGTACGGCTCGCCAAGTTGGAGCGCTCTCGCGATAGACACAGCAACTATTCAGCTGCGAGGGGACGGGAGAGGTGGTGAGCACTCTCGCGAGATTTGAAGGAGCGGCGGAGGCCAGAGGGAGGAGAGGTTTGTAAACTAGGAGGCTCCGGGTTTCCGGGCACTTTTATTAGGTCGTCTTCTGGGCCACCAGTGCCCCTTCCATCTCCACAGGCAGTCCCTCCATCGCTAACCTTTTTTTAACCGGCCTTTTAGGACCGGAAGTCCTTCATCTCAAGCATCCAATGCTGAAAGCGGCCTGATTTTCTCTACCGGAAGCCCTTTTCCAGAGGCTGGGAACACGGCCCACCTAGCAGGAAGTCCCACCTCCTTGAGCTCCGCCACCCTTCCCGAAGTTTTTCTGTCACCTGTGTTAGGCTCCGTCCCCTTTCCGCGTTTTATCCCCGTACCAGAAAAGGATACATTTAGTGCCTCCCACCCAGCTCCACTAAACGGGTTGGATATCTCATTCTTTGAGTTGGTGTTCCTTCCCCGGCGCCCCCATGTAGCTGGGAAGTGGGACCTGGGGGTGGTTGGACCCCTGGGATCCTAAAGGAGGGGCAGGGAGGGCGCAGAACTC |
Task1_train_23306 | Gene PFN1 (profilin 1), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCGGAGGTTGTCGGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCC | GCGGAGGTTGTCGGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACAACTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCC |
Task1_train_23307 | A variant on Chromosome 17 in gene PFN1 (profilin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACG | GGGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCGACAGAGGGAGTCCCTTTCTCAAAAAAATAATAATAAAAATAAAGATGGCAGTAGGAAGGTTTCAGCTTGAGATGCTGTCTTTTCTTCTGTTTTTATGCATAAATACAACGAAGACGGGAGAGGAGATGGAAAGCAAAGATGATTAAGTGAAATAATTGTGGGAAACAATAGAGGGATAGACTTTGCTTATAGGGGATGTGGACAGAGCAGAAAAATGGGAGGAATGGGGAGGATTCAGTTAGAGAAGGAAGAAACCGGTACCAAGGGGCTGGGGCTTTAGGCCCTGGGGCCTCCAGTGCCCGTATAAGGCTGTGGCAGAAGCCCTGCCCATTTCCGTTCCTTCCACTCCCTATCTCCACCCTCACACCTCCCCAAAAACCCACTTCCCTTCTTACCTCTGCTTCTCTTTGCTTGTCCCTTCTAGCCCTAAATTCTTCCATGTTCTGCCCTGACCTTATCCTGCCTACCTGTCTTATCTCTTCCACTGGCTTTGTAGGTGAGGGGAAATTTTTGCAAGGCTTTAAAAGCCTTAGCCCTGGGTCATTGTGGCTCAGTGAAGGACTAGATTATTTTCTTTCTGTCCCAGGAGACCAGTATGATGTCTGTGCCATTTGCCTGGATGAATATGAGGATGGGGACAAGCTGCGGGTACTCCCCTGTGCTCATGGTGAGGCCCTCACTGCCTGCCCATGCCCCTCTGCCACCAGCAGCCACCAGGTGCTTCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCGTCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACG |
Task1_train_23308 | This mutation occurs in PFN1 (profilin 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Amyotrophic lateral sclerosis type 18 | TCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACATTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACGCCCCGTCGCGGAAAGCGGGGTAGCGGGCGGGATGGGCGCCGCCGCCTGGGGCATAGGACCTACGGGCAACTGAGGGACCCACTCACGTGCAGCCGCCATTCGCGCCGCTTCCAGGGCAAGCACCCAGTCAGGGCCTCTCGCTGCGCGCCCTAGACCGCGCCCGCCCCCACCCAAGTCCCTCCCTCAGGGTCCAAACCGGAGCAGTGCCCCGGACCGCGCAGGCCTCGCAGTACCGTGATGTTGACGAACGTTTTCCCGGGGACGGCGGCCCAGACGGAGGGCGAGTCCTTGTAGCCCACGATGGCCGCGTCCTGACAGGTCCCGTCCGCCATGAGGTTGTCGATGTAGGCGTTCCACCCGGCCATGGCGCTGCTACTGGGGCTGCTCTCGGCGCTGCTGCTGGGGCCGCGGACTGGGCTCGAGCTGCCTCGGCTGGCGGGCGGGGGGAGGCGGAGAGCTCGGGGCACGCGCTGCCGTCCGGACCGCGGCTCCGCTCGCTGTGCAGCAGCCCTCGCACCGCCACTTCCTGCTCCTCCCCCCCCCCGCCCCGCTAGATTTTTATTTGCAAAGGACGGTAGGGGCGGGGCCTACTCCCCATTCCCTCCCTCCCCCACTCGCCAGCCCAGACACCGAACTTTGCAAATGCAATTTTAAAAATCCCTCCCCCTATTGCAAAATTTGCAGAGTTCGATGGAAAGCAATGCAGAAGGATGGGGGGTGGCGGGAGAGAGGTGAAGGGTAGGGTTTGCTCCAATTTGCA | TCACCTTGTTCCTCTCTGCAGCCTACCACAGCCGCTGCGTGGACCCCTGGCTCACTCAGACCCGGAAGACCTGCCCCATTTGCAAGCAGCCTGTTCATCGGGGTCCTGGGGACGAAGACCAAGAGGAAGAAACTCAAGGGCAAGAGGAGGGTGATGAAGGGGAGCCAAGGGACCACCCTGCCTCAGAAAGGACCCCACTTTTGGGTTCTAGCCCCACTCTTCCCACCTCCTTTGGTTCCTTAGCCCCAGCTCCCCTTGTTTTTCCTGGGCCTTCAACAGATCCCCCACTGTCCCCTCCCTCTTCCCCTGTTATCCTGGTCTAATAACCCCCCACACATACACCTCTGGTGACCTATTTGCACAGACCGTCGTCTTCCCTCCAGTCTTCTGAGGGATAGGGGACATTCCATCCCAAGCTTCTCCCTTACCCACACCTATCCTTTTGAGGGGCTTTGGGGTGGAGCTGGGGCAAGCAGAGGGACTGGGTCTTCACTTCTTGGGCTAATAAAATTGTTTCTTTGTGGACTAAGGAAGGGTAAGATCATTCTCACACAGGTGAACTTAACCCTTTGGTGGAATCACCCCTTTAGCCATAAGGAGCAAGGGAATGCTGAGAGACACTAACCTATAGTCATGGGGACAGCCCCAGCCGGCATTTGCTATGACTCAGAAGGGGGAGCCCCACCCACAAGGATGACTCAACTAGCCCTGCCTTGCCTGCAGGCCTGCACCCATTCTCTGGTCCAGATGGCTCTATTCCATCATCCACCAATTTGACCAGCACACTGAGGACTTAGGCCTGGAAATGCCACTGTGGAGGGGCAGGGCCACCTGGCCAGAAGCTCAAATTCCTGCACCTTGTAGTACCTCAACCTCCCTGCTCCCAAGCCACGATAAAGGAGGCAAGTCACAGTGCCTATCCCCCATTCTGACACCCAAGCTCAAATCACACAGCACCTTGTTAGTAGAATCTTTTTTATTCAGAAAAAAAAAACCCCAAAAAACAAAAGTTTTCCAACCACACACGGGAGGGATATGGGTAGGGGGAGGTGTCTGTCCATCCAGCCCTGGCCCCCAGCCCATGTGGTTTTGGCAGCAATAAGGGGTATGGGGTAATGGCCCAAAAAATAAAATGGTTTGTGTGTGTATGGGGAGGAAAGGGGTGCAAAGCTGTGGGGAGCGGTGAAGGGGAAGGGACAGACGAGGTCAGTACTGGGAACGCCGAAGGTGGGAGGCCATTTCATAACATTTCTTGTTGATCAAACCACCGTGGACACCTTCTTTGCCCATCAGCAGGACTAGCGCTGGAGGAGGAGGAAAGAGAAAGGAGGCTAGGATCCAGGTGTCACAATTCCACCCCCTGCCAGCTGTTCAGCAGCTGTCCAGCCCTGGGGGCTGTAACCCAACCTCATCTCTCCCAACCCGCCCCCCCACCACACACAGGCAGGCTGTCAGTCACCCTGAAACAATAAGGCTTTTCAAAAGAGGAAAATCAAGCTTAAACGCTGGAGAGGAACAGACTAAAAACTTAGGGGTCAAAGGCTCATAGACTGTTGATTCATGTGTTCAGGCTAGAAAGGGCTGTGGATGTGCATGCCACCTCCAGGTTCTAACAAAAGAACTCAAACGATGAACTCGATGATTCAAGACCCCAACAATCTACCTATACTCCTAGAAAACAGTTTCTAATCCGAGCTCAAGGCAGTAAGTAATTTAAGAGGTAATGCAGTTCAGCAACTTCGAATTACAAGATGAGGAACTGAGACAGAATGGAGGGACTATCCCGTGTTCCAGCATCCAGCAGACAAGGAACACAATACTGGTCTGACTCCCTTCATGTTGGGGAATCACACAAAAAAGCACCCTCAAGATTACCAGAAGGCGGTACATTAGAGATCTTGGAGCTAAAGGAAGGGTAAGACTCAGGAACTCACTCTTGTCAGTCTTGGTGACAGTGACATTGAAGGTGGGGGCCCCACCGGTGCTCTTGGTACGAAGATCCATGCTAAATTCCCCATCCTGCAGCAGTGAGTCCCGGATCACCGAACCTTTCTGGCCCCCAAGTGTCAGCCCATTCACGTAAAAACTTGACCGGTCTTTGCCAACCAGGACACCCACCTCAGCTGGCTGGAAGAGGAACCAAGCGCCCATCAAGTTAGTCAGTGCACCAAGATTCCCACCGTGTTCTCCAAAGACCCACCTGTCTTCCACTTCTGAGAACCACCCCGCCGTGGGGGCTAAGTATAAATTATATACTCAGTACACATCAATGAACTGTGAGAAACTCTGAGGACTGTGGGACGTTAGTGCAGAAAAAGATCATGATTCTGAAACTTAGAATATGGAACCAGGGAGGAAGGGATGACATACTCCTCTAGAGATTTAGATGTCAGTGTTAATGGGGAAAGTAAACCCAGGAAATAAAGGGAGTCAGTGAGGTAAGTGAGGAGCCTTTGGATGCTCAGAACTCTCCTTCAGGAAAAGCAGAAGCGGAGAGGGGAAGGGAGGGGGGCGGGCGAGGCAAGAGAAGCAACTTTGCCCTTATTTGGTCAAAGGTTCTGCAGGAGCTGTTAGGGCCCGGACGCCTGGGTCTCCAAGTAACCTAGAGTTTAGCTCCAGGTATCTCTGCTCTGAGATGAGGAAGCAGACCCCTGGGGGCTTTCCGGGAAAGTTGGAAAACTTTTGAAGGTGGACAGGGGCCAGACCCGGCAGGCCAGCTCTCGGGTCTAGGTACCCCGGGAACCTTTCCCCCCTCCCCCTTTCACCCCAAGCCCCCACATCCGGTCCCCTCCCGCCCGGAAACCCCCTTCCCCCCCCTTTTGAACTTCCGCTCCCCCTCCCCACTTCCGGGCAGTGTGGACAGGGAGATGGTGGTGGGAGCAGCGGTAGTAAACCAATATACTTTCGCTTATGCTGTCTCAGAACTTCTCACAAAGTTCCCCTGCTCCAGGCCCCGCCGGATGGCGGGAAGGGAGGGCGAGGGGACTTCCGGGATTGGCCTCGCAGGAATGTTGAATCCAACGTGCTGAGCTGGGGGGGCGTGTGGTGGCCTCGCCCTCTCTAACGGAGTTAGGAGGGGCCAGAAGCCCACAGAGGGTGGGCAAGGGACCAAGACCACGCGCCTGGGGCTCCCTTCCGCACCAGGAGAAACAATGGTAGAGGGACGCGGGCTGGCAGCCGGACGGGGAGCTGGGGGTCCAAGGATCCCCGGGTCCCCTCTCAATCCCAATCCCCAGTAAAAACTGAGGCGCGTCCCCGCCCCGCCCTGGGAGAGGCGGAAGTGGGCCGCCGCACCGGGCGCCGCGCCCCTCCCCGCCCTGTGCCCCGGATGTAACGCCCCGTCGCGGAAAGCGGGGTAGCGGGCGGGATGGGCGCCGCCGCCTGGGGCATAGGACCTACGGGCAACTGAGGGACCCACTCACGTGCAGCCGCCATTCGCGCCGCTTCCAGGGCAAGCACCCAGTCAGGGCCTCTCGCTGCGCGCCCTAGACCGCGCCCGCCCCCACCCAAGTCCCTCCCTCAGGGTCCAAACCGGAGCAGTGCCCCGGACCGCGCAGGCCTCGCAGTACCGTGATGTTGACGAACGTTTTCCCGGGGACGGCGGCCCAGACGGAGGGCGAGTCCTTGTAGCCCACGATGGCCGCGTCCTGACAGGTCCCGTCCGCCATGAGGTTGTCGATGTAGGCGTTCCACCCGGCCATGGCGCTGCTACTGGGGCTGCTCTCGGCGCTGCTGCTGGGGCCGCGGACTGGGCTCGAGCTGCCTCGGCTGGCGGGCGGGGGGAGGCGGAGAGCTCGGGGCACGCGCTGCCGTCCGGACCGCGGCTCCGCTCGCTGTGCAGCAGCCCTCGCACCGCCACTTCCTGCTCCTCCCCCCCCCCGCCCCGCTAGATTTTTATTTGCAAAGGACGGTAGGGGCGGGGCCTACTCCCCATTCCCTCCCTCCCCCACTCGCCAGCCCAGACACCGAACTTTGCAAATGCAATTTTAAAAATCCCTCCCCCTATTGCAAAATTTGCAGAGTTCGATGGAAAGCAATGCAGAAGGATGGGGGGTGGCGGGAGAGAGGTGAAGGGTAGGGTTTGCTCCAATTTGCA |
Task1_train_23309 | This variant lies on Chromosome 17 and affects the gene ENO3 (enolase 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glycogen storage disease due to muscle beta-enolase deficiency | TACTAGGCACATGCTAAGAACTTTACATTCAATTTCTCTAATTTTCAGCAAAAGATCCTACAGGGAAGTAGGTGCTATCCCCATTTTACAGAAATGAGGAAAGAGAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTATAGTCCCAGCTACTAGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCGCCATTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATGAGGAAAGAGGCTCTTGAGCAAAACTACTCATCCTAGACCACTGAGCTAGTAAGTAGGGAAGCCAGGTTTCCACCCCAACACCCCCCGCCCCTGTCCCTTCTTGAGCTCTCATGCCCCGGCCCAGGTCCAGACACCCTCTCCCCATCTCAGGCCTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGCTGGCCATGCAGGAGTTCATGATTCTGCCTGTGGGAGCCAGCTCCTTCAAGGAAGCCATGCGCATTGGCGCCGAGGTCTACCACCACCTCAAGGGGGTCATCAAGGCCAAGTATGGGAAGGATGCCACCAATGTGGGTGATGAAGGTGGCTTCGCACCCAACATCCTGGAGAACAATGAGGGTCAGTGCTGAGCACCCTGGGGGGCAGACCCCCTGGATCTCCACATGGGCAGGGGAGGCTGCAGACAAGGGGCACTGGAGTCTCAGGTCCTTTCTTGGTCCTCCCCCAGCCCTGGAGCTGCTGAAGACGGCCATCCAGGCGGCTGGTTACCCAGACAAGGTGGTGATCGGCATGGATGTGGCAGCATCTGAGTTCTATCGCAATGGGAAGTACGATCTTGACTTCAAGTCGCCTGATGATCCCGCACGGCACATCACTGGGGAGAAGCTCGGAGAGCTGTATAAGAGCTTTATCAAGAACTATCCTGGTGAGGCGTTCGGGTGTCCCAGTGTTCCTGCCCGAATCCCGTGCAGCTGCCTAATATACTGATTTCAGTGACCTGCTTTGCCATCGACTTGGATCCTTCCAATTCTTAGCCCCATTAAAATCCCCATTTAAGCTCTTCTGCCCTGTCACCCCTCCATGAGGCTCCTTCTGACCTCTAGCCGTGTCTCTGCCCTGTCTCTGCCTTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCTCCAAACCCCACCAGTGGTCTCCATCGAAGACCCCTTTGACCAGGATGACTGGGCCACTTGGACCTCCTTCCTCTCGGGGGTGAACATCCAGATTGTGGGGGATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGAGTGCCTCCTGACCCTGAGGCTCACCATAGCCTGCCTCTGCCCCAGCTCTGCCCACTCCAGCTACAGTCTTACCCACCAACTCCAAGCTTACCTTTCCCCTGGCACCTGACTTACCCACACCTTGATCTCAAGACTTTGTTTGACTAATCCTTGGCCTGACTCCAAGAGCTTTGCCCCTGTGGCTCTGTCATGACCCCCCACCCCCAGCCCACACCATTCCTCTCTCAGATTCCGCTGTTCTCAGCAGCATCTCAAGAGCCCGAAATCAAGATAAGTCTTTTCCTCTCCTACTTCCCAAAGAACTTAGTCACTGCCCTCCCTGCAGAGTGCTTGCTACCCAAAACAGAAGGGAGAGGCCCCACCCAACCCCTGCTTTCCCACTGAGGAGGTTCTAGAAGGCCACATCAAATGTCCTCTCCACTCAGGTGCAAACTGGCTCAGTCTAATGGCTGGGGGGTGATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCATTGCTGACCTTGTGGTGGGGCTCTGCACAGGACAGGTACTTGTAGCTTCTCTCTACTGAGTGTCTCACCAAGTTTTCTTGGGGTCCCTGGCCTCCTGCCTTTGAGGTTAATGCTCCCTTGGGGCCAGGTCCAACCCCTCCTTTCCAGCCTCACCTAACCCTCCAAATTCTTCTTCCCTCATCAGATCAAGACTGGCGCCCCCTGCCGCTCGGAGCGTCTGGCCAAATACAACCAACTCATGAGGTACAGCGGGAACAGTGGGCCTGGGCATTGGGGTGCTGGAGGCTGTTAGGTTGGAAGTTCAGCAGCCCTAACCTTGCCTGCATTCTAGGATCGAGGAGGCTCTTGGGGACAAGGCAATCTTTGCTGGACGCAAGTTCCGTAACCCGAAGGCCAAGTGAGAAGCTGGAGGCTCCAGGACTCCACTGGACAGACCCAGGTCTTCCAGACCTGCTTCCTGAAATAAACACTGGTGCCAACCAAGACAGCTGTGTGCTTCTTTGTGGGAGCTAGGGGATGCTGGTTTCTGGGCTGAGCTGGGGAAAACAGGAGGTGGCGAGATGGGGGCGGGGAGGGGAGGCAAATAGATATGTAACCTGCTAGGACAAAGAGGAGGTGAGGGACTCACAGAGGAAGCTGGGTGGTTCTAGAACAACAGAGGTGTTCACATTTCCAAAGGAGGTAGGGGAAGCAGATGCTATATGGTAAAATGAAGCTGCAGAGTTGCCAATGGAGCCGGGCATGGTGGCGCTCGCCTGTAGTCCCAGATACCTGGGAGGCTGAGTTGAGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTACACTATGTTCGTACCACTGCACTCCAGCCTGGGCTGCAGAGCAAGACCCTGTCTCAAAGCAACAACAACAAAAAAAAACAAAAACAAACAAAAAAACTAAATAAAGAGTTTCAGAGGGAATAAGAAACCAGCTCCAGGAGAGGGGAGCAGGGTGGGGACTGGGGTCCTGCCACCACCATGAAGGGGAAGCTGGCTGTGAAGTAAATGGTCTGCAGAGGATGCTAGAGTGAGGCTGCAGTCCTAGGGAGGGCTTTGTGAGGATGAGAGTGATAATGACAGTGGCTGCCTCTCCTATAGAACTTACAGGATCTTGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGTTACTCGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACTTACAGGATCTGAAACTGTTCTAAATATTTGACATATATTGCCCTGTGCAATTGTTCAAACAGCTCTGTCAGATAGCTGCCATAATTATCCTTATTTTATAGGTGAGGAAACCTGAGGCACAAAAGGTTAAATGCCTTACCCAAGGTAACGGTTGGCAGCTGGCAGGGCTAGGATCCAAAGCCAAGGTATTTGACTCCAGCGATTATACTCTCATGTATTTATTTTGAGCCAGCTTCTTGATCTGTCACCCAGGCAGGAGTGCAGTGATGCGATCATAGTTCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATTCTCTTGCCTCAGCCTGCAAAGTAGCTGGGACTACAGGTGCACACCACCAGGTATGGCTAATTTTTAAATTTTGTATATTTTATTTTCTTTTTGTAGAGAAGGTTTGTGGCCTAGACTGATCTCAAACTCCTGGAGTCAAGCGATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCGCAGGTGTGAGCCACTGCGCTCAACCAATTTTTTAAT | TACTAGGCACATGCTAAGAACTTTACATTCAATTTCTCTAATTTTCAGCAAAAGATCCTACAGGGAAGTAGGTGCTATCCCCATTTTACAGAAATGAGGAAAGAGAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACCCACCTATAGTCCCAGCTACTAGGGAGGCTAAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCGCCATTGCACTCCAGCCTGGTGACAAAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGAAATGAGGAAAGAGGCTCTTGAGCAAAACTACTCATCCTAGACCACTGAGCTAGTAAGTAGGGAAGCCAGGTTTCCACCCCAACACCCCCCGCCCCTGTCCCTTCTTGAGCTCTCATGCCCCGGCCCAGGTCCAGACACCCTCTCCCCATCTCAGGCCTTCAATGTGATCAACGGGGGCTCCCATGCTGGAAACAAGCTGGCCATGCAGGAGTTCATGATTCTGCCTGTGGGAGCCAGCTCCTTCAAGGAAGCCATGCGCATTGGCGCCGAGGTCTACCACCACCTCAAGGGGGTCATCAAGGCCAAGTATGGGAAGGATGCCACCAATGTGGGTGATGAAGGTGGCTTCGCACCCAACATCCTGGAGAACAATGAGGGTCAGTGCTGAGCACCCTGGGGGGCAGACCCCCTGGATCTCCACATGGGCAGGGGAGGCTGCAGACAAGGGGCACTGGAGTCTCAGGTCCTTTCTTGGTCCTCCCCCAGCCCTGGAGCTGCTGAAGACGGCCATCCAGGCGGCTGGTTACCCAGACAAGGTGGTGATCGGCATGGATGTGGCAGCATCTGAGTTCTATCGCAATGGGAAGTACGATCTTGACTTCAAGTCGCCTGATGATCCCGCACGGCACATCACTGGGGAGAAGCTCGGAGAGCTGTATAAGAGCTTTATCAAGAACTATCCTGGTGAGGCGTTCGGGTGTCCCAGTGTTCCTGCCCGAATCCCGTGCAGCTGCCTAATATACTGATTTCAGTGACCTGCTTTGCCATCGACTTGGATCCTTCCAATTCTTAGCCCCATTAAAATCCCCATTTAAGCTCTTCTGCCCTGTCACCCCTCCATGAGGCTCCTTCTGACCTCTAGCCGTGTCTCTGCCCTGTCTCTGCCTTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCCCTGTCTCTGCTCTGTCTCTGCCCTGTCTCTGCTCCAAACCCCACCAGTGGTCTCCATCGAAGACCCCTTTGACCAGGATGACTGGGCCACTTGGACCTCCTTCCTCTCGGGGGTGAACATCCAGATTGTGGGGGATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGAGTGCCTCCTGACCCTGAGGCTCACCATAGCCTGCCTCTGCCCCAGCTCTGCCCACTCCAGCTACAGTCTTACCCACCAACTCCAAGCTTACCTTTCCCCTGGCACCTGACTTACCCACACCTTGATCTCAAGACTTTGTTTGACTAATCCTTGGCCTGACTCCAAGAGCTTTGCCCCTGTGGCTCTGTCATGACCCCCCACCCCCAGCCCACACCATTCCTCTCTCAGATTCCGCTGTTCTCAGCAGCATCTCAAGAGCCCGAAATCAAGATAAGTCTTTTCCTCTCCTACTTCCCAAAGAACTTAGTCACTGCCCTCCCTGCAGAGTGCTTGCTACCCAAAACAGAAGGGAGAGGCCCCACCCAACCCCTGCTTTCCCACTGAGGAGGTTCTAGAAGGCCACATCAAATGTCCTCTCCACTCAGGTACAAACTGGCTCAGTCTAATGGCTGGGGGGTGATGGTGAGCCACCGCTCTGGGGAGACTGAGGACACATTCATTGCTGACCTTGTGGTGGGGCTCTGCACAGGACAGGTACTTGTAGCTTCTCTCTACTGAGTGTCTCACCAAGTTTTCTTGGGGTCCCTGGCCTCCTGCCTTTGAGGTTAATGCTCCCTTGGGGCCAGGTCCAACCCCTCCTTTCCAGCCTCACCTAACCCTCCAAATTCTTCTTCCCTCATCAGATCAAGACTGGCGCCCCCTGCCGCTCGGAGCGTCTGGCCAAATACAACCAACTCATGAGGTACAGCGGGAACAGTGGGCCTGGGCATTGGGGTGCTGGAGGCTGTTAGGTTGGAAGTTCAGCAGCCCTAACCTTGCCTGCATTCTAGGATCGAGGAGGCTCTTGGGGACAAGGCAATCTTTGCTGGACGCAAGTTCCGTAACCCGAAGGCCAAGTGAGAAGCTGGAGGCTCCAGGACTCCACTGGACAGACCCAGGTCTTCCAGACCTGCTTCCTGAAATAAACACTGGTGCCAACCAAGACAGCTGTGTGCTTCTTTGTGGGAGCTAGGGGATGCTGGTTTCTGGGCTGAGCTGGGGAAAACAGGAGGTGGCGAGATGGGGGCGGGGAGGGGAGGCAAATAGATATGTAACCTGCTAGGACAAAGAGGAGGTGAGGGACTCACAGAGGAAGCTGGGTGGTTCTAGAACAACAGAGGTGTTCACATTTCCAAAGGAGGTAGGGGAAGCAGATGCTATATGGTAAAATGAAGCTGCAGAGTTGCCAATGGAGCCGGGCATGGTGGCGCTCGCCTGTAGTCCCAGATACCTGGGAGGCTGAGTTGAGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTACACTATGTTCGTACCACTGCACTCCAGCCTGGGCTGCAGAGCAAGACCCTGTCTCAAAGCAACAACAACAAAAAAAAACAAAAACAAACAAAAAAACTAAATAAAGAGTTTCAGAGGGAATAAGAAACCAGCTCCAGGAGAGGGGAGCAGGGTGGGGACTGGGGTCCTGCCACCACCATGAAGGGGAAGCTGGCTGTGAAGTAAATGGTCTGCAGAGGATGCTAGAGTGAGGCTGCAGTCCTAGGGAGGGCTTTGTGAGGATGAGAGTGATAATGACAGTGGCTGCCTCTCCTATAGAACTTACAGGATCTTGGCAGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGGGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATCCCAGTTACTCGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAACTTACAGGATCTGAAACTGTTCTAAATATTTGACATATATTGCCCTGTGCAATTGTTCAAACAGCTCTGTCAGATAGCTGCCATAATTATCCTTATTTTATAGGTGAGGAAACCTGAGGCACAAAAGGTTAAATGCCTTACCCAAGGTAACGGTTGGCAGCTGGCAGGGCTAGGATCCAAAGCCAAGGTATTTGACTCCAGCGATTATACTCTCATGTATTTATTTTGAGCCAGCTTCTTGATCTGTCACCCAGGCAGGAGTGCAGTGATGCGATCATAGTTCACTGTAGCCTCAAACTCCTGGGCTCAAGCAATTCTCTTGCCTCAGCCTGCAAAGTAGCTGGGACTACAGGTGCACACCACCAGGTATGGCTAATTTTTAAATTTTGTATATTTTATTTTCTTTTTGTAGAGAAGGTTTGTGGCCTAGACTGATCTCAAACTCCTGGAGTCAAGCGATTCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATCGCAGGTGTGAGCCACTGCGCTCAACCAATTTTTTAAT |
Task1_train_23310 | A variant has been detected on Chromosome 17 in KIF1C (kinesin family member 1C). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spastic ataxia 2 | AACTAAGAGGAGGGTAATGCTGGGCACAGAGCAGGTGCTAGTCGTAAGGGCGGGGGCTGGGGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCC | AACTAAGAGGAGGGTAATGCTGGGCACAGAGCAGGTGCTAGTCGTAAGGGCGGGGGCTGGGGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGTTCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCC |
Task1_train_23311 | Consider a variant on Chromosome 17 in gene KIF1C (kinesin family member 1C). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCCCCTCCCTCAGCTGAAGCTTTTCCATGCACTCCATTCACAGGGGGGAACTCACGCACAGCC | GGCAGGCTGGCCTTTCCCGTGTTCCCAGTCCCTGGGAGGGGGAATGTTGGCCTGGAGCCCTCCATTGCCCAATCCAGGGAGGCAGCTCAGTGGGGGCGGGTCCTAGGAAGCCAAAATTAGCTTTGGTGGCTGGAGGGGGTGGGGAATGTTAAAGGGGAGAGAAGAGTCAGGACAGTGGTGAGGAGTGGGATGCTTGGATTCCAGGGGCTGGTTGGGGTATGGGCAGGGACTGGGAATACCTGACCTTGACTTTCCTTCCTTTACCCTCTCCTGCCCCTCAGCCATCATCAATCCTAAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACTTCGGTGGGTTGTTGGGCTGGGGGAAGAGCAAGGCAGTGAGAGACAGAGGATTTAGGTCCTGGGGAGGGGACATGTTAAGAAATAGGACCCCCAGGGGATTAGTCAGGGTGAATTGGGAGGATGATCCTGGGTGGGGGTGGTAGGACCCTTAGGCTGTGATTGAGGCCTCGACAGGAAGGCGGAATCCCTTGGGGTAATTAGGACTAGCAGGGGCTGGATAGGATCCTTGGGGTGGTAAGGACAATGATGAGGGTGGGAGGGCACACAGGACATTTGGGGAATCGTCAGTGATGGAAGCAAGACTCTTGGGACAGAGACACAAAGGATAAAGACATCCAGGGTTACTCTGTTTTTCTCTGCCCCCACTTTCTCCTAGACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAGATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGGGCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCCCAGGTACGCCTAGGACCTGGTGGGGCAGCCAGGGCAGGAGCATCTTTAGCTGCCCTCTGAGGAAGGAAGGACTAGGGTCGGAGGATTATGGAACAGAGACCTGGCTCTGAGGCCATTGGTGATGGGAGATAGAGGTTGACTGCAAGCTGGACAACCCTCTGGGGTGGGAGGGTCTTCGCCCCTATCAGAGGCAACGAGCCTCAGTGAGTAGAGCAGGGCTTTGGCATCAGTGAGCCTTGGGTTCGAGCGCCAGTTTTACGACTTACTACTGTTTTACTTGGTTTCATAATAATTTGTGAGTATAGTTCTCCTGCAGGCTTGTGTACCACCAGCAGAGTGTTAACTGTAGAAACGCCAATTGGGATAACGGAGTTAACCATAATTGTCCCTGGCTGTCCAGCATAGCAACCTGGCACACGGGCTTGGGAGTCAGAACTCCTGGGGTTTGCACCCTGGCTGGCTGAACGGTAGCCTGTGATCTTGGGCAAGTGGGGACCTCTCTGAGGTTGTTTTCCCATCTGTGAAATGGGAATAACCCCTCCCTCAAGGCTGTAGCAAGGGTTAAATGGGGTCACTTGGGACTGGGCCTGGCCTGTGGCTGGACACTTTAGGTGTGCCCTGAACAGGAGCTTCTCTGTATTTCCCTGTGTCCCCCTCCAGCTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTACTCTGTGGAGGTAAGCCCGGGTCTTGGTGGCAGGGCTGAGAGGGGTCCAGACTGCTGAGGGCTGTCGCTGGAATCAGACAGCCTGGGATCTAATCCTGGCTCTGCTGGTTACTGACTGTGACTTTGGGGCAGTGATTCTGTCCTTCAGCTTCGTATGTTCATCTGGGAGACGCTGTTGATCGGACACACCTCCTGGCTTGTTGGGCAGGTCGCTGAGCTAGCATCTGCAGAATGCTTCGCACTGTGTATTAGCTGCAGTCACCTGGATCGTGTCCAGTGGAGTCAGATTAAGTTGCGTTGTCATTGTTTTTGCTAGTTTTGTTACTTCTCATTTGCTTCTCCCACTCAGGTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCCAAGAGTCGGGGTTCTCTGCGGGTCTGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGACCTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAATAAAGCACGGTGAGGCAGGCTGATGGAGCAGAGGGCAAGGGGGCCAGGGTTGGGAAGGTGAGAGGCAGGATCCAGTGACTGCTTTCTTTACCCTAAGGACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTCTTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAGGTGGGATCGCCCCCCCCCCCACTCCCCCACCGGATGCAACCTCCCCTGGCAACAGGGACAGTGACATGGTAGAAGGGTCTTGGGCCCTCCCTGCCCATGCTGGGTTGAGTGCCTCCTCAGGACTACCATGACCGCGCCCCACCCCTACCCTGTTTTTCCGTCAGATCAGTCTGTCCCCCTCTACTGTTTGCTTGTCTTTTTTTTTTTTTTTTAAGACAGAGTCTTGCTCTGTTACCCAGGTTGGAGTACAGTGGTGCAGTGGTGCGATGTCAGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTACCTGGGATTACAGGCATGCGCCACCAGGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCAGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCCGGCTGTTCTTACGAGACCCAGGACAGGGCTTGGATCCCCTGTGTGTCCCTTGTCCATGCCTGCGGTGGGCCTGTAGCTATTTGTAATTGAGTGAGTAACCACCGTCTCACTGTTGTCACGTATTCTGTTTCCCCCGGCCTCCTCCCTCGCCTCCTCCTGGCTCTCTCTAGCCCTTGCCAGCTGCCCACATTCCTGCTGGGTGCTTCCCTGATTTCCCTGCCCCGTCCCCCACCCGCACCTTATCTCCTGCCTGTTTCCTCTGACCCCAGGTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCCCGGGGCATGCGCCTGAAGGTGAGGGGCCTTCAGAGGGTGGTTTGTTGTGGGGCAGTGTTGTGGGCTGTATGTGGAGGTCTCCAGTCGGAACCTGAGACTCTCACTGGGGAGGTAGGAAGCGGAAGTGGATCACATTGGGAGAAGAGGGTCTCATCCCCACATTCCTCATCCTTTTCCAGGAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAAGTGATCTCGGCCCTTGCAGATATGGTGAGACCTGGGTGTTGGAAAGAAGGGGCTTGGGAAAGGGGAGTGACCCACCCTAACCTCCTTCCTCCTTTTATCCCCCAGCAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTACAGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGGGTGAGGGCCTCTTCCTCTTTCTCTGCCGACCCTGACACATCCCACAAACTCTTTTGATACATCTGACAAATCCCCTTGCTATGCCGAGAATCCCAAATCCCGTTGTCTTACTTCTCCCCCTGACCCTTCAAAGGGAACATCCTTTGAAGATTTCCTGATGCTGAGAACAAGGCCATACCCTCCCGTCAAGCCAAGGGCCTCACTGACCTGGCTACTCATGACCCCTCCCTGATCCCTGATCTCACACCCACTGCTGCACTGCTGACTTCATCCCCCTTCCATGGTTCTGTGACTGTCCTGCAGATATATCTCCCTGACCTCATCCCCTCCCATAACCAGATGTCATGGTTAGCTCCACCCCGCTAGACTCCCCTACCTCAGACCATGACCCTGTAAGACCTCTGCCTGGGCAGTGGGCCCCAGCCCTGTGACCCGGTCTGACTTTGCTTAGCCCCTCCCTCAGCTGAAGCTTTTCCATGCACTCCATTCACAGGGGGGAACTCACGCACAGCC |
Task1_train_23312 | Given a variant located on Chromosome 17 and affecting SLC52A1 (solute carrier family 52 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AAGGCACTACAATCTGTATTTAAATCTAATTGCACACTAGATAATATATGTATGAAAAATTATTTAATCCAGTTTCCTGATTTCATTATATATTTCTTATAAGGTTTTCATTAGGCTTTTGTTTTTGTTTTTGGTTTTAAATAAAAACACTTTATTGCACAAATCCCACAAAGGTCTCAGGCCCTGGGTCCAAGCCCACAGCCCCAACCTGTCCCCTGGCTCTGGGCCTGGTCTTTGGTGCCCACCCTGGCCTCACATGCCAACGTCTTCTGTGGAGTGTGCAGGTGTCCATGAGCGTTCCTGTGTTGGGGGAAGCCTGCCTGGGCCACAAGTAGTCAGGCACTGTGGCAGCCTCACGATGAAGACAGGTGGGGTGGAGTTGGGTCCCCACCTGCCCAGGCTCAGGGGCCACAGGGGTCTACACAGTCCTTTCTGCTTTGAAACACGTGGTAGATGCTGGTGGGAGGGAACATGGCACCGGCACCAAGCAGGGAGCCCACTTGGATGGCCACACCAGCTGCCAGCAATGCCGGCCGACCCCCACCATGCAGCAGGGAGCTTGCAGCCACCTTCACATATGAGAACACACACAGACACAGCACCCACGACAGCACCTGCAAGGGAGGACACAGCAGCAGGCTGAGCATGACATGCACTTGCTCCAGGGGACACCCTCCTCCCCACTTCATGTCTCCACTTGCTCACCACAAGGACCACCCCTGCAGTGGTGCCCACCAGGGGTGGGCAGGGGCTCAGGATTGCCAGTGCCATCAGGTAGGCCCCAAAGAGCATGCCCAGCAGAGAAAGACCAACCAGCCCTGCCAGGGACCTGTTGGGGATGAGCAGAGACTCAGGGCTGGCTGTTCTGGGACCTGGACCCCAACCTTAAGTTCCACCCACCAAGCCTGGGGACCCTTTTGCACCTGCACAGCACGCCCATGGCCAGGAAGCAGGCAAGGGGGTTGGCGGCACTGCCCAGCACCACAGCCAGGTGGTAGGCCAGGCGCCCATAGGGCAAACAGGAAAAGCTCTGCACAGAAGGCAGCACGCCATTGGTCACGGCACTGGTGAAGGCCATCAGGCCCAGCAGGAAGGCACCATGGGCTGAGAACAGCTGATGGGCCTCAGGGTCTGGGCCAGGGATGGTGCCTGCTGCCTGGCTCGGTGGCTCCTGCAATGGCAAAGCCTCTTCTTCCTCCTTCTCTTCCTCCTCTGCTCCTGGGGATCCCAGTTGAAGTTCAGGCCCTGAGCCCCCTGTGGTTACAGAGGGTAGTGATGGCAACAGCAACAGGAGACCCCGGAAGGCGGCAGCTGAAGTGACCAGAAGGGCAGTCAGTGCCCAGAAGAAGGTGCTGGCAGGAAAACGCTCAGGGAAGTCGAGGGGAGGCCCAGAGGTGCCATTGGTGGGCGCTGGTGGGCACTCGAGGCGGCCCACACCTTGCACTAGGGCCAGCACACAGGGGAGTAGGGCACTGAGACCCTGACCCAGGAAGAAAGACCGTAAGAAAGGAGGTGGCAGGTGGCTCAGGAAGGGCAGGAAAGTGACATTAGAGGTACAACAGGCCATTGCCAACACCAAGGCCAGAGTTAGGAAGGCCACAGAGTGGAGCTGCCCTGCCACTGGGGCCACGTGGTGCCACAGAGGGGCCAGCAGGGCTGTGCCCACTACACTCAGCACCTGTACCACCTGGATGGGGACCTGCTCGCCCTTGCCCGGGGCCAGCTGCCTCCACAGGGTCACCACCAGCAGACCCAGGTTTCCCAGCGCCACAACCACAGAGAGGTATGAGGGGAGGCTCCAACCTGCAGGGAAGGAATGATGCCATGTCAGGAGCACAGTGGCTAAGGGACAAAGAGCTGCCACAGGCCACCTTTCTGGGCATACCTGCCCCACGCTTCCCTGTACCTCCCTCCCACTCACCCTCTGGAAGGTCTTTTACCACCACAGGCAGCTCCACCCAGATCCCGTTCACAGCAGCCCAGGAGCCCATGCCAAAAAGGGCCACCAGCAGGTGGGTCAGCACCAGACGGCCCAGCGTGGGTGCTGCCATTCAGCCCAAAGCTGGACCCTCCAGGACAGGGCAAAGGTCACAGGCAGGTCCTTCCCTAGGTAGGTCCAAAGATGCTTTGGTTCTTCTGGAAACTGAAGACCTTCTAGCTGGAGGGAAACAGACAGGCTGGCAGGTAATAGGCTGGTGGGACAGAACCGGAGTCAGAAGACAAGTCGGTCAGACTGCTAAGACCAGGGCAACTGGAGGGAGAGGTGGCCGGGGGCGGGCGGGGAAGGTGGGGAGCCAGGACTTACCACGGGGCACCGGCTGTGCGTTTGGGTACAGCGACCCAGCAGTGCCGGCAGGCAGACAGGCAGAAAGCTGGCCCGAGGTGCAGCTGCCCCAGAGGAGCAAAGAGGGAGCTGATTTTCCTACCCACAGAGGACCCGGGGTCCAAGTTGTCAAAACAGCTCAGCACTGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGAAGGCAGATCGCCTGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGCGACAGAACGAGATTCGGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAACAGCTCGGCACCAACACGCTCACCCTCAAATGGACCCCGGGACAAGGGCACGTCTCTGGTGCCACTTGCAACCCTAGCGCTTTTGCGACACTCAGGACTTGCTGAGGCAGGTCGAGTTGGAGAGGGGAGTGGCTGGGGCGGGCTCTGCCCGGAGGGGCGTCTCCGTGCTGCCCTCCCGCCTGCCTCAGGGGGGCATCCCGGGAGCCGCCAGGTGCGCAGGGGTCCCCGCACCTCCGGATCCGGCAGTCCCCGGACCCAGCGGCTGGCGGTCTGCCTGAGAGGGAGCCCCCTCCGCCGGGGAGGCGGCCCAGCCCAGAGCCCACACAGCTGGGGTTTTGTTGTTTGTTGTTTTAATTAATTAATTAATTTTGAGACGGGGTCTCACTCTGTCACCCAGGCTAGAGCGCAGCGGTGCGCGATCGCGGCTCACTACAGCCTCAACCTCCCAAGCTCAAGGGATCCTCCCACTCAGCCTCTCCCCACCCCCCCACAAGTAGCTGGGACCACAGGCGAGCATCACCATGTCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTCACTATGTTGCTCAGGCTGGCTTGGCACTCCTGGGCTCAAGCAATCTTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGACGCACCACACCTAGCTACCGCCACGCTCAGCTGTTTTTACACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGAGCCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCTGCTAATTTTTGTCTTTTTAGTGCACAGGGTCTCGCCATGTTAGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCCCGGCCTCCCAAAGTGTTGGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGCTGTTTTTACACTTTTAAATGGTTGAAAAAAAATTAGCTGGACGTGGTGTGCACACCTGGCTAATTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTTCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGATTACAGACGCCTGCCACCACGCCTGGATAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATATTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGA | AAGGCACTACAATCTGTATTTAAATCTAATTGCACACTAGATAATATATGTATGAAAAATTATTTAATCCAGTTTCCTGATTTCATTATATATTTCTTATAAGGTTTTCATTAGGCTTTTGTTTTTGTTTTTGGTTTTAAATAAAAACACTTTATTGCACAAATCCCACAAAGGTCTCAGGCCCTGGGTCCAAGCCCACAGCCCCAACCTGTCCCCTGGCTCTGGGCCTGGTCTTTGGTGCCCACCCTGGCCTCACATGCCAACGTCTTCTGTGGAGTGTGCAGGTGTCCATGAGCGTTCCTGTGTTGGGGGAAGCCTGCCTGGGCCACAAGTAGTCAGGCACTGTGGCAGCCTCACGATGAAGACAGGTGGGGTGGAGTTGGGTCCCCACCTGCCCAGGCTCAGGGGCCACAGGGGTCTACACAGTCCTTTCTGCTTTGAAACACGTGGTAGATGCTGGTGGGAGGGAACATGGCACCGGCACCAAGCAGGGAGCCCACTTGGATGGCCACACCAGCTGCCAGCAATGCCGGCCGACCCCCACCATGCAGCAGGGAGCTTGCAGCCACCTTCACATATGAGAACACACACAGACACAGCACCCACGACAGCACCTGCAAGGGAGGACACAGCAGCAGGCTGAGCATGACATGCACTTGCTCCAGGGGACACCCTCCTCCCCACTTCATGTCTCCACTTGCTCACCACAAGGACCACCCCTGCAGTGGTGCCCACCAGGGGTGGGCAGGGGCTCAGGATTGCCAGTGCCATCAGGTAGGCCCCAAAGAGCATGCCCAGCAGAGAAAGACCAACCAGCCCTGCCAGGGACCTGTTGGGGATGAGCAGAGACTCAGGGCTGGCTGTTCTGGGACCTGGACCCCAACCTTAAGTTCCACCCACCAAGCCTGGGGACCCTTTTGCACCTGCACAGCACGCCCATGGCCAGGAAGCAGGCAAGGGGGTTGGCGGCACTGCCCAGCACCACAGCCAGGTGGTAGGCCAGGCGCCCATAGGGCAAACAGGAAAAGCTCTGCACAGAAGGCAGCACGCCATTGGTCACGGCACTGGTGAAGGCCATCAGGCCCAGCAGGAAGGCACCATGGGCTGAGAACAGCTGATGGGCCTCAGGGTCTGGGCCAGGGATGGTGCCTGCTGCCTGGCTCGGTGGCTCCTGCAATGGCAAAGCCTCTTCTTCCTCCTTCTCTTCCTCCTCTGCTCCTGGGGATCCCAGTTGAAGTTCAGGCCCTGAGCCCCCTGTGGTTACAGAGGGTAGTGATGGCAACAGCAACAGGAGACCCCGGAAGGCGGCAGCTGAAGTGACCAGAAGGGCAGTCAGTGCCCAGAAGAAGGTGCTGGCAGGAAAACGCTCAGGGAAGTCGAGGGGAGGCCCAGAGGTGCCATTGGTGGGCGCTGGTGGGCACTCGAGGCGGCCCACACCTTGCACTAGGGCCAGCACACAGGGGAGTAGGGCACTGAGACCCTGACCCAGGAAGAAAGACCGTAAGAAAGGAGGTGGCAGGTGGCTCAGGAAGGGCAGGAAAGTGACATTAGAGGTACAACAGGCCATTGCCAACACCAAGGCCAGAGTTAGGAAGGCCACAGAGTGGAGCTGCCCTGCCACTGGGGCCACGTGGTGCCACAGAGGGGCCAGCAGGGCTGTGCCCACTACACTCAGCACCTGTACCACCTGGATGGGGACCTGCTCGCCCTTGCCCGGGGCCAGCTGCCTCCACAGGGTCACCACCAGCAGACCCAGGTTTCCCAGCGCCACAACCACAGAGAGGTATGAGGGGAGGCTCCAACCTGCAGGGAAGGAATGATGCCATGTCAGGAGCACAGTGGCTAAGGGACAAAGAGCTGCCACAGGCCACCTTTCTGGGCATACCTGCCCCACGCTTCCCTGTACCTCCCTCCCACTCACCCTCTGGAAGGTCTTTTACCACCACAGGCAGCTCCACCCAGATCCCGTTCACAGCAGCCCAGGAGCCCATGCCAAAAAGGGCCACCAGCAGGTGGGTCAGCACCAGACGGCCCAGCGTGGGTGCTGCTATTCAGCCCAAAGCTGGACCCTCCAGGACAGGGCAAAGGTCACAGGCAGGTCCTTCCCTAGGTAGGTCCAAAGATGCTTTGGTTCTTCTGGAAACTGAAGACCTTCTAGCTGGAGGGAAACAGACAGGCTGGCAGGTAATAGGCTGGTGGGACAGAACCGGAGTCAGAAGACAAGTCGGTCAGACTGCTAAGACCAGGGCAACTGGAGGGAGAGGTGGCCGGGGGCGGGCGGGGAAGGTGGGGAGCCAGGACTTACCACGGGGCACCGGCTGTGCGTTTGGGTACAGCGACCCAGCAGTGCCGGCAGGCAGACAGGCAGAAAGCTGGCCCGAGGTGCAGCTGCCCCAGAGGAGCAAAGAGGGAGCTGATTTTCCTACCCACAGAGGACCCGGGGTCCAAGTTGTCAAAACAGCTCAGCACTGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGAAGGCAGATCGCCTGAGGTCAGGAGATTGAGACCATCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGTCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCCAGCCTGGGCGACAGAACGAGATTCGGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAACAGCTCGGCACCAACACGCTCACCCTCAAATGGACCCCGGGACAAGGGCACGTCTCTGGTGCCACTTGCAACCCTAGCGCTTTTGCGACACTCAGGACTTGCTGAGGCAGGTCGAGTTGGAGAGGGGAGTGGCTGGGGCGGGCTCTGCCCGGAGGGGCGTCTCCGTGCTGCCCTCCCGCCTGCCTCAGGGGGGCATCCCGGGAGCCGCCAGGTGCGCAGGGGTCCCCGCACCTCCGGATCCGGCAGTCCCCGGACCCAGCGGCTGGCGGTCTGCCTGAGAGGGAGCCCCCTCCGCCGGGGAGGCGGCCCAGCCCAGAGCCCACACAGCTGGGGTTTTGTTGTTTGTTGTTTTAATTAATTAATTAATTTTGAGACGGGGTCTCACTCTGTCACCCAGGCTAGAGCGCAGCGGTGCGCGATCGCGGCTCACTACAGCCTCAACCTCCCAAGCTCAAGGGATCCTCCCACTCAGCCTCTCCCCACCCCCCCACAAGTAGCTGGGACCACAGGCGAGCATCACCATGTCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTCACTATGTTGCTCAGGCTGGCTTGGCACTCCTGGGCTCAAGCAATCTTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGACGCACCACACCTAGCTACCGCCACGCTCAGCTGTTTTTACACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGAGCCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCCACCACCATGCCCTGCTAATTTTTGTCTTTTTAGTGCACAGGGTCTCGCCATGTTAGCTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCCCGGCCTCCCAAAGTGTTGGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAGCTGTTTTTACACTTTTAAATGGTTGAAAAAAAATTAGCTGGACGTGGTGTGCACACCTGGCTAATTTTTGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTTCCAGGTTCACGCCATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGATTACAGACGCCTGCCACCACGCCTGGATAATTTTTGTATTTTTCGTAGAGATGGGGTTTCACCATATTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGA |
Task1_train_23313 | Assess the clinical impact of this variant on gene NUP88 (nucleoporin 88), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Fetal akinesia deformation sequence 4 | GACCACAGGTACATGCTACCACAGTGGCTAATTTTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGGTCATACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACTACACCCAGCTAATTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAGTAATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCACCTAGCTAATTTTTAAATTTTTTTGTAAAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCACCTGACAAAGTGCTGGGATTATAGGTGTAAGCCACCATGCCCAGCCTACATGGGATTTTATTATGTATTTTCCTTGTTCACTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTGTGCTGCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGTCTGCCACCATGCCTGGCTAATTTTTGTAGTTTTTAGCAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGCACTCCTGACCGTGTGATCCACCCACCTCGATCTCCCAAAATGCTGGGATTATAGGCGTAAGCCACAGTGCCTGGTTTCACTGTTCACTTTTCAAGCTGGTACAGTTTGCTATCCTTCTCATTCCCCACCAAGCGTTTTCCCTGTGGTCCTCTGTATTGCCAAACCTAGATTATGTCTATTTCTTAGTGTATGCTATTTGTCTCATGTCTGTGTATACTCCATGTCTAACAGAGTGCTTATGAGATATCTAGTAATTGATGAACAGAATAAAGGGAGGTATCTAGAATACCTTCCAGGTTTCTACTGGGGATAACTGGGGTGATATGGCACCCTTCAGAAAAATGGGACACAGGAGAGAGAGCAGATTTGGAAAGACAGAAGATGAGTTAAGGGGACATCTGGAGTTTTATGTTCCTATAGGATATCCAAGTGGAGGAGCCCAGTAGGCAGCTGGGTATGTGAATCTGGAGTTCAGAGTGGTCTGGGCTAGGGCGATATGGATGCGGGAACTGTCAGCACTGAAGCCATGATTACGGCAGAAGTTACTCAGGAAAGGACCTAGAAAGAATAGAGAAGACCCAAGGAAAGAGTTGTGAGCATTACTTATAAGCAGTGAGTAGAGGCAGAGGAACCCGCCCAAGAAGGAAACTTGAGAAAAGGGCTGCTGGCGGGACTGAAGGAGAACCTGGAGGGACAGACGTCAAGGATGCCAAGGAGAATGTGTTTCAAAGAGGAGACATGGGCAACCACATCAAATAAACACAGCAATGCAGTGAAGGGCAGACACAGTCTCTGCTCTCATGAAACATATACATTCCGGTAGTGGCGACAGACATTAAAAAAATGCAAATATAAATAGTGTAATATGTGCTACAATGGATAAGAGAATAGGAGAGCCCCAAGTTAGACTGGGGAGTCAAGGGTGTTCTCTGTGAAGAAGTGACATTAAGATCAGAAAGAAGGGTAGGAGTTAGCCAAGAGAAGACAGCAAGCTGGGGCTGGGGCTGGGGCTGGGGAAGGACCTTCCAGTCAGGAAACAGTATGTCGAGTGGCCCTGGAGAGGAGAAAGCTTCTGATGAGCAGGACACTCTTAGGGGAGAAGTATCACGTCTGCAACTTTCAAATGACTCAGCAGTGAATACTGTGGATGTGAGTGTAACGGATACAAACGTATCTGAACTGCTGAAATGAACAATTGTTTTCTGATATACAAGGGAGGGAGAGTCCTTACCTGCAGGGCAATGGCTTCGTACAAAGGATGTGTTCAACAAAGCATTTCTGTTCTGTAGAGAGTTCCTGTAAACTATCCTTATCTTCTTCATCTACCATGGAAGACATTACATAAATGAAATGATGCTTAGACAAGTCTCCAAATTAAAATGCTAATGATATTGGGTTAAATGCAGTGAGGTTCTTGTCTGAAAACATTGCTTCTCAAGTACTATGCTTTTCTGACATAGGCATACGCTTTCCCAGGGGGTCTAGATTTCCGCCCCAAGAAGTAGGATTTTCCTTCGTAATGTCTCTGAATGCAAAAATGTTTCACTAAGAACAGTGAAATCATTCTCTTCTAGGGTGCTGCTTACCCACACTGATTTTATTTTCATAAAGGTTGAGTATCCTTTATCCAAAATGCTTGGGATCAGAAGTGTTTTGGATTTCACATTTTTTTTTTGGATTTTGGAATATGTGCATTATACTTAGTAGTTGAACATCTCTTATCTGAAAATCTAAAATCCTAAATGCTCCAATGAGCATTTCTGTTGTCATGACAGCACTCAAAAACTTTTGTAGCTCACTCAGGTTCAAGGATGGAAAAAAGAAAAGTTTTGGATTTCAAATTTTTCAGAGTAGGGATACTCAATTTATAACAGCTTTATTTTTTTTTGGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGCGCAGTGGCCCAATCTCTGCTCAATGCAACCTCCGGCTTCTGGGTTTAAGTGATTCTCCTGCGTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGACGCCACCACGCCCAGGTTTTAGTAGTAGACAGGGTTTCACGGTATTGGCCAGACTGGTCTCGAACTCCTGAACTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCTGGCCTGTAACAGCTTTTTGAAACGTAATTCACAGTACCATACAAGTCATCCATTTAAAGTATACCCATTAAAGTATACAATTCAGTAAGTTTTTAGTGTAAGAATTGTATACCTGGCAGGGTGCGGTGGCTCATGCCTGTAATTCCCAGCACTTTCGGAGGCCAAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCGAGACGCCGTCTCTACTAAAAACACAAAAATTAGCTGGACGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGTGAATCGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTAAAAAAAAAATTGTATACCTATCATTAACAATTTGGAATATTTTCATTTCCCCAAAAGAAACCCACATAACCATTAGCAATCACTCCTCAGTTTCTACCAAACTTCCCAGACCTAGGCAACTAATCTACTTTCTGTCTCTGTACATTTGTCTATTCTGGACATCTCATATAAACAGCCATACAGTTGTTTGTAACTGGCTTCTTTCACTTAGCATCTGTTCACAGTTCATCCATATTGGAGCATGTATCAGTACTTCATTCCTTTTCATTGTTGAATAATACTCTGTTGTATAGACACACCACATTTTATCTATCCATTCATCAGCTTATGGACACTTGGGTATGTGGCTTCTGGGCTATGATGAATAATGCTGCTGTGAACACTCATGTACCAGTATTTGTGTGGATACAGGTCTTCATTTCTCTTGGAAATATACTCAGGACTGGACTATCAGGTACATGGTAACTCTATGAATAATCATTTGAGGAACTGCCAGATTGTTTTCCAAAGACTGTACCATTTTACATTTCTATAAGCACTGTATAAAAGTCCCCATTTTTTCCCACATCCTCAACACTTGTTAATGTCCATCTTTTTCATTTTAGCTATACTAGTGGATATGACGTGATACCTCATTGTGGTTTTGTGGTATCTTATTTCCATAATGACTAATAATGTTGTACATCTTTTTATATATATGCTATTTGCCCAACTGTATCAAATGCTAAGGGTTCTTTATATTGTTCTCCATACGAGTCCATTATCACACAAATATTTTCTCTCATTTTGTGGGCTGTTTTCCCTTTTGT | GACCACAGGTACATGCTACCACAGTGGCTAATTTTTTTTTTTGTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCCACCTCCCAGGGTCATACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACTACACCCAGCTAATTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAGTAATTCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCACCTAGCTAATTTTTAAATTTTTTTGTAAAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCCTCACCTGACAAAGTGCTGGGATTATAGGTGTAAGCCACCATGCCCAGCCTACATGGGATTTTATTATGTATTTTCCTTGTTCACTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTGTGCTGCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGCAGGTGTCTGCCACCATGCCTGGCTAATTTTTGTAGTTTTTAGCAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGCACTCCTGACCGTGTGATCCACCCACCTCGATCTCCCAAAATGCTGGGATTATAGGCGTAAGCCACAGTGCCTGGTTTCACTGTTCACTTTTCAAGCTGGTACAGTTTGCTATCCTTCTCATTCCCCACCAAGCGTTTTCCCTGTGGTCCTCTGTATTGCCAAACCTAGATTATGTCTATTTCTTAGTGTATGCTATTTGTCTCATGTCTGTGTATACTCCATGTCTAACAGAGTGCTTATGAGATATCTAGTAATTGATGAACAGAATAAAGGGAGGTATCTAGAATACCTTCCAGGTTTCTACTGGGGATAACTGGGGTGATATGGCACCCTTCAGAAAAATGGGACACAGGAGAGAGAGCAGATTTGGAAAGACAGAAGATGAGTTAAGGGGACATCTGGAGTTTTATGTTCCTATAGGATATCCAAGTGGAGGAGCCCAGTAGGCAGCTGGGTATGTGAATCTGGAGTTCAGAGTGGTCTGGGCTAGGGCGATATGGATGCGGGAACTGTCAGCACTGAAGCCATGATTACGGCAGAAGTTACTCAGGAAAGGACCTAGAAAGAATAGAGAAGACCCAAGGAAAGAGTTGTGAGCATTACTTATAAGCAGTGAGTAGAGGCAGAGGAACCCGCCCAAGAAGGAAACTTGAGAAAAGGGCTGCTGGCGGGACTGAAGGAGAACCTGGAGGGACAGACGTCAAGGATGCCAAGGAGAATGTGTTTCAAAGAGGAGACATGGGCAACCACATCAAATAAACACAGCAATGCAGTGAAGGGCAGACACAGTCTCTGCTCTCATGAAACATATACATTCCGGTAGTGGCGACAGACATTAAAAAAATGCAAATATAAATAGTGTAATATGTGCTACAATGGATAAGAGAATAGGAGAGCCCCAAGTTAGACTGGGGAGTCAAGGGTGTTCTCTGTGAAGAAGTGACATTAAGATCAGAAAGAAGGGTAGGAGTTAGCCAAGAGAAGACAGCAAGCTGGGGCTGGGGCTGGGGCTGGGGAAGGACCTTCCAGTCAGGAAACAGTATGTCGAGTGGCCCTGGAGAGGAGAAAGCTTCTGATGAGCAGGACACTCTTAGGGGAGAAGTATCACGTCTGCAACTTTCAAATGACTCAGCAGTGAATACTGTGGATGTGAGTGTAACGGATACAAACGTATCTGAACTGCTGAAATGAACAATTGTTTTCTGATATACAAGGGAGGGAGAGTCCTTACCTGCAGGGCAATGGCTTCGTACAAAGGATGTGTTCAACAAAGCATTTCTGTTCTGTAGAGAGTTCCTGTAAACTATCCTTATATTCTTCATCTACCATGGAAGACATTACATAAATGAAATGATGCTTAGACAAGTCTCCAAATTAAAATGCTAATGATATTGGGTTAAATGCAGTGAGGTTCTTGTCTGAAAACATTGCTTCTCAAGTACTATGCTTTTCTGACATAGGCATACGCTTTCCCAGGGGGTCTAGATTTCCGCCCCAAGAAGTAGGATTTTCCTTCGTAATGTCTCTGAATGCAAAAATGTTTCACTAAGAACAGTGAAATCATTCTCTTCTAGGGTGCTGCTTACCCACACTGATTTTATTTTCATAAAGGTTGAGTATCCTTTATCCAAAATGCTTGGGATCAGAAGTGTTTTGGATTTCACATTTTTTTTTTGGATTTTGGAATATGTGCATTATACTTAGTAGTTGAACATCTCTTATCTGAAAATCTAAAATCCTAAATGCTCCAATGAGCATTTCTGTTGTCATGACAGCACTCAAAAACTTTTGTAGCTCACTCAGGTTCAAGGATGGAAAAAAGAAAAGTTTTGGATTTCAAATTTTTCAGAGTAGGGATACTCAATTTATAACAGCTTTATTTTTTTTTGGATGGAGTCTCCCTCTGTTGCCCAGGCTGGAGCGCAGTGGCCCAATCTCTGCTCAATGCAACCTCCGGCTTCTGGGTTTAAGTGATTCTCCTGCGTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGACGCCACCACGCCCAGGTTTTAGTAGTAGACAGGGTTTCACGGTATTGGCCAGACTGGTCTCGAACTCCTGAACTCAGGTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCACGCCTGGCCTGTAACAGCTTTTTGAAACGTAATTCACAGTACCATACAAGTCATCCATTTAAAGTATACCCATTAAAGTATACAATTCAGTAAGTTTTTAGTGTAAGAATTGTATACCTGGCAGGGTGCGGTGGCTCATGCCTGTAATTCCCAGCACTTTCGGAGGCCAAGGTGGGTGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGCGAGACGCCGTCTCTACTAAAAACACAAAAATTAGCTGGACGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGTGAATCGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCCAAGATCATGCCATTGCACCCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTAAAAAAAAAATTGTATACCTATCATTAACAATTTGGAATATTTTCATTTCCCCAAAAGAAACCCACATAACCATTAGCAATCACTCCTCAGTTTCTACCAAACTTCCCAGACCTAGGCAACTAATCTACTTTCTGTCTCTGTACATTTGTCTATTCTGGACATCTCATATAAACAGCCATACAGTTGTTTGTAACTGGCTTCTTTCACTTAGCATCTGTTCACAGTTCATCCATATTGGAGCATGTATCAGTACTTCATTCCTTTTCATTGTTGAATAATACTCTGTTGTATAGACACACCACATTTTATCTATCCATTCATCAGCTTATGGACACTTGGGTATGTGGCTTCTGGGCTATGATGAATAATGCTGCTGTGAACACTCATGTACCAGTATTTGTGTGGATACAGGTCTTCATTTCTCTTGGAAATATACTCAGGACTGGACTATCAGGTACATGGTAACTCTATGAATAATCATTTGAGGAACTGCCAGATTGTTTTCCAAAGACTGTACCATTTTACATTTCTATAAGCACTGTATAAAAGTCCCCATTTTTTCCCACATCCTCAACACTTGTTAATGTCCATCTTTTTCATTTTAGCTATACTAGTGGATATGACGTGATACCTCATTGTGGTTTTGTGGTATCTTATTTCCATAATGACTAATAATGTTGTACATCTTTTTATATATATGCTATTTGCCCAACTGTATCAAATGCTAAGGGTTCTTTATATTGTTCTCCATACGAGTCCATTATCACACAAATATTTTCTCTCATTTTGTGGGCTGTTTTCCCTTTTGT |
Task1_train_23314 | Mutation context: Chromosome 17, Gene C1QBP (complement C1q binding protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Combined oxidative phosphorylation deficiency 33 | AATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCT | AATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGGGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCT |
Task1_train_23315 | This variant impacts the gene C1QBP (complement C1q binding protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Combined oxidative phosphorylation deficiency 33 | ATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTG | ATTGTTATGGACCCCAGTTATCCACTCACCTAACCGTCAGTGCCCTGTGGCTCAGAGCAGCAGTGAAGCTAAGTAGGAGGTGAGGTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAAGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTG |
Task1_train_23316 | A variant has been detected on Chromosome 17 in C1QBP (complement C1q binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Combined oxidative phosphorylation deficiency 33 | GTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCCTCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTGTCCTAGCTGGCTGAATTATATGCAGAACTTCAAACTAGGCTGGGTGCCTACATCCAATCCTGAGTGACTCAGCAGGTCTGAAGT | GTTTGGAAGGTGAGTGCTGTGCAGCAGTCTTGGAGATCATAGTTGACAGTGCCGGCTCTGGGGTGGGCAGGAAGACCATTGTTGGGTAAGTGAGGGGAGGTGGGGGTCACAGCAAATATGAGAAACACAGCCAGGCACTGTGGTTCACACCTGTAACCCCAGCATTTAGGAAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAATTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAATTAGCTGGGTGTGGTGGCTCGCACCTGTACTCCCAGCTACTCGGAAGGCTGAAGTGGGAGGATGGCTTGAGCTCAGGAGGCAGAGGTTGCAGTGAGCTGAGAGGGCGCCATTGCGCTCCAGGCTGGGTGACAGCGAGATTGTGCCTTAAAAAAAAAAAAAAAAGAGGAGGGGGAAAGACAAAATTGTATTCTGTAGGTCTTGAGTTCAACATTTGGAAAGGTAGACATTTGGAATGCTCTAGTTCCACTAGACCTTTGGTTTTCACTTAAGGGGGAATCAAGGACCATTGTGTTAGAATCCAGTGAGGTCAGGACGTAGGGACGCTCAGGACAGATGGCTGAGGATGTGTTGAAAGATAGGGGTGGGTTACAGAAGATTGCACTCTATCACAAGACGAGGAATGTTTCGGATGTGGCGGTGCTCAAGTGGTGGTCCTGGGATGGAATATGCCAAACCGCCTATTAGCAGAGTTACAGTGTCTTTTAGAGAAAGCCAAACATATTACCTGTGGAAGTGGTAAGAAACAAGAGTAACCCACTTATGCCTACTGTTTAATTATTGGAACGCTAAGCCTGTGGGAGTTATTGATCCCCTACTGCTCAAGGTCATCGCCAAGGTCTGATTTTTCACACAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAAGGACAGACTGGATTCCTTAGCATAGTGGAGAGGCTGAGCCACCCAGGAGTCGGGAGGCAGTTTTACACTCAGGTGCTTACTGATCATGTCTTTACATGTTTTCTGCCCGTACTGATCATGCATGGTTTGCACCTCCCCTATGATACATACCTGCTTCAATCTTGTGTAGATTTGGAGTCTCATCTTCCTGCTGGGCTCTAAAAGCTCCAGGCTATCAAGAGTTTGAATACAATCTTTCTGGTCAGTGGTTTCCTGATGGTGAGGATGTTTGATTAGTTCATCTACAGGATTTGATCTTAGCTTGAAGACTATTGATGCTGATGGTTCCCAGGGCAGTTGTTTGAAGGCTGCAGGACAGAGGTCCAGCAATGCCAAAGAGGGGCGGTCATCATGACAAACTACACTACTGAACTAATTGAAACTGGACTCAGGAGACCTCATCTAATGTGTAGAATTCTCATTGATTACAACTTTTATCAGATATCTTTCATGACTAGAATACAATTTAAGCTAATTATTTTCCTGTTTAAACCTAGGCCTGTGATACTTGGGCTGTGATCCTCTAGAGCCAGCTTGGACTCACATCATTCTATGGGGTTGAAGACAACTCATTCCCTCTGAGGAGCCTTGTACATACAAGCCTTTTATTTATAACTTATTTTGTATTGAAACTTTTAAACAATACTGAAGAAAAAAAAACTTTTCCGACATCTGTTCTTGGTCTTTTGTGACGCAGGTTGAAGGGGGAGGAATAGAAAAAGACAAACTGCCTTGGAGGAGATAAACCAATTTTATGTCTATCATGTTATACAAAAATCTAGAAATAATAGATTTGTACAGAAAAAAATGATAATAAATGAGAACACAAAACATATAATTTAAATTTGGTATTTTTTCCCCCATGATATTAGGATGATAATCATTTCAAAGCACATGTCTAGCTTCAGAGTAGGATTTGTTCACTGGCCAAAGCCTGCCATGAAACTATGGCTTTCAGCATCTGTCTGCTCTACTGGCTCTTGACAAAACTCTTGAGGTCTTCAAGAAAAGTAATGTACTCCTGGTGCTCCAGGGCTGTGCTGAGCTCCACCAGCTCATCTGCAAAAGTGTTGTCCACCCATCGGTCGGCAAGGAAATCCATTAGGTGGTCATATAAGGCCTGCAAAGAACAATATTTACTAGTTAAAAAAAAATCTGTAATGAACATTAAAATGCTTTTTTCTCCCCTTGAACTAGGACCCTTCCTTCCAAGGCCCAAAAGGTTCCCCCACCTTATCAAGCACTCACCCAGTCCAAGGAATCTGTGTTGAGTGTATAATTAGTATCCTTCCATTCAGACTCGCCAGTGGACTGAAAGCTAACTTCCCTGATAGAGAAGATGTCACTCTCAGCCTCGTCTTCTTGTCCAACCTGAGAAGAAACAATATTGGGAAACTGAAGGGTTCTCCAGGACAAGCTAGACTCAGGGGAAGAAAGGGGGCCACTGACAGCATGAAACTCATCAGGTTTTAACCCTCTTCCCTCACTCCCCACCTCTCTCCCCCTGCTGGGCTGGTCTAAGCTAGAAAAGTGTTTAAATTTCTGCTAAAATAGGGACAGGAAGTTCCCAAGGGACACACTGTTCCCCAGGGGTGCCAAGAGGCTAGCACTCCATCCTGCATACCTCATCCTCTGGATAATGACAGTCCAACACAAGGGCCTTCTTGCCATCATCATTCTTTATAACTTCAACCACGAAATTGGGAGTTGATGTCAGTTCAGGCTGGGGAAACAAGAAGTCAATACATGCTGCTGCTGGAAGGAGATGGATGGCTGGATCAAGGATCTCTGTTCAGAGTGTCTGATGGCCACCACTATTAGGATATTATGTAGCCATTTGAATAGTCTTATGCCATACTATTCCCAAATGAAGAGCTTGATCTCACTTCTGTTGGCACCCTGCTTGGTTAAATAACACACTGGGTTTTCAGTTAAGAAATGTGGATACCAGCCTCAGCTATGTGCCAATTAACTGAGTTTATATCAGTCCCTTAACATTCCAAGCCTTTTCCTCCACCCGTACACTGCAAAGCTTTCCTAAAGTTTCAAGATCTCTTTCCAGCTTGACTGTTCCAGGAGTCTTCATAAGGGACCAGGGTCAAAGGCTGGGGAACCTGGCCATCCTTATGGCTGAATAACAGCAGCAGCTTTTCCTCTGATGCGGAGCTCTGGGAGCAGACTGGGTCCAACGTCAGGGAGATGCTAGTTGGGGTGGCTGGGAAAGCAGCACACCAGAGAGCTGCGCCGTCCACACCAGGTCATGACCCAACACTGTACTGATGGCTCTTGGGCAGAATGTCTAGGGACTCTGTGGCCCTCATACTGGCTGGTTACTAGGCTGGGCACAGCACTTCCTGAAATGTTTGAAGAGTAGGCATGATCCAGTTAAAGTCTCTTATGCCCCTGCCATTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGGACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATGCGACTGGACTTAGAGGAATTTTTTTTTTTTGAAAGACCAAAGAAAAACGCTCCTCCTCTAAGCCCCAGGCACAGCCTGTCAGAACTGAGGTAAAAGCTGATTATAGTATTAGCTTACCTCCTGTTCTTCAACCTTCTGCCCTTGCGAGGGTTCCTCCTCACCATCAAATGTTGGTGGGATGCTGTTGTTAATGTTGAAAGTGACCGTGATTCTAAAACGGCAAGGGAAAACAGACAAGGCAAAACAGACAAGGCATGGTTTTAACCGAGCAGGTTAACACATAAACATGGAAATCTGCTACAGTTAAAAAGGCGTATTGAAACAATGTCTCTGTCCTAGCTGGCTGAATTATATGCAGAACTTCAAACTAGGCTGGGTGCCTACATCCAATCCTGAGTGACTCAGCAGGTCTGAAGT |
Task1_train_23317 | This variant lies on Chromosome 17 and affects the gene NLRP1 (NLR family pyrin domain containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Respiratory papillomatosis, juvenile recurrent, congenital | GTCCAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTAGGGGACAGAGCGAGACTCCGTCTCAGACAACAACAAACCAAAAAAAAAAAAAAATACCCCACACCCACTCACAAGAAGATAGCCTTGATATATAAAGAAAATAAAACTGACTATAAAATAAAATGTACAATATGGTTCGATTTCGCCATAGACATGTGCACAGAAAAAAGACTGGGGTTCTTACAATTGACCACTAATTTTTTTTTTTTTTGAGACTGAGTTTTGCTCTTTTTCCCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCCCTGACCTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGACACCATTTTCGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCAATTTTTAATGATGGTTATTACAGAATGATGGAATTCTTATTGATACTATTTTTCATCTTTTTGCTTATCTACGTTATCTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGTTGGAGTTCAGTATCACGATCTCAGCTCATTGCAAACTCCGTCTCCCAGATTCAAGTGATTCTCATGCCTCAGTCTCCCTAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGATAATTTTTGTATTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTACTGGAATTACAGGTGTGAGCTACTTCACCCAGCCTACATATCTTTTTTTTTTTCCTATAATGAACATGAATTTTATTGTGAGAAAAAGTTTTAAAAATATAAATATGAAGGCCCACATCAAACATTTCTTCCTCTGAGAATCTTTATTACCCACTCGTGTGATCACTCCCTTCCTTGGGCCACCACAGTACCTTGTCCATACCTCTACTGTTGTAGACATCACACTCTGTTGTCATTAAATGAATGTTTGTCTTCTCCCCTATTTTTTGAGCTCCTTAAGGCACGTATTGTGCTTTTTAATCTGTGATCTGTAGGGCCTGGCATAGAATCAGTGCTTAATAAATACTTATGGAATGAATCATCTAAAGCAGGACATAGACACATACCAATAGCATGTGATCGATACCACGACAGAGGTCGGGGAACCGGGATGGGGAAGTTCTCAGTACTGCCGGGCTGGAGAATGGTTGGAGGAAGCTATTCTTGCACAGCCAGAGAGTGGGTTTCAGGTTGAGTGCGTGGGGCAATGGTGGCACCACGGTCACAAATAATTATGAAGTCAGTTTTGCAGGGAAAAATAGGAAACTCTTTTTGAGAGCTGATGGGGAAGATCTCAGGGCCAATGTCGTTGTCATGGAAAGGGTTCCTGAAGCAGCTGGAGGAGCAATTTCTCCGAGAGAATGAATGCCCAGAGAGAGGAGCAGGGGTAGGGGGGCTGCCTGATCCTTGGGGAGTGTGGGGGTAGCTAAGGTCAGCAGGAAGGTGGGAGCACGTCCAGGAGAGAAGATGGACGGTCATTCTAAGGGTAGGAGGAGAGGTGGCAGACACGGCAGGGCCCAGTGGCCTCTCCAGAAGCAAGCAGGGCCTGCCCCACAGCCGGGCACTGCAGAGGAGCTTAGGTAGACAGAGCATGGTGGTCAGATTGGGCAGTTAGAAGTCACTGGAGACCCTGATCCTTTAGCCACCCCCACCCCCGGCCAGGCTCAGTGAGCATGCCTCTGGTGCTCAGGTCACTCGGGCTTATGGACTGACAGAGGAGCTGCAGACATGGGTGGTTTGGGTACTCACAGGACTACCATGGTGGGGCTCCATGTTGATCTGTGCTGCCTGCCCTCAATCAGCTGAAGCTTCTTCACGTGGCGGCTGAATTTAATGCAGAAAGTGCACACTAAGAGCTCCATGTCTGTTTCTACACACATGCCCATTTCTTCGAAATGGGCCATCACTTGTGTCAGGAACGTTTTGTTCCGAGTCTCGTACAAGCAGTGGAGGGACTCCAGAGAGTGTGGCTGCAGCAGCAGCTGCAGGGACGGGACCCACTGCATCAGGTTCCTCCCCTGAGACAGCCGGCAGTGAAAGATGTTCTCCATCTCTCTCTCCCCCTCATCACTTAACAGGCCCAATAGGAAACGTGTGGTTGATGCCCCAAACAGGCCATGTATTCCATATGCTTCTAGCGTCTTTTCCAAATCTATGATGCAATTAGAATGTTTACCTCTCCCCTTCTCATCCTCCAAGACATAGGACATTGCTGCAAAGAACTCTTGGAAACAGAGGTGAATGAAGCTGTAGCTCAGAGGGATGGGGTGCTCTTGAAGAATACCCATCTTCAAGAAGGTGGAGATGATGGCCCCATCTAACCCATGCTTCCTGAGGTCATCTGGACTGAAAAGGGTCTTTTTTTGCCAGATGCCCTCAGCAGCCAGAGAGCAGAGGTCTCTGAGCTGGGGTCCCAATGGCTGAGCTTGGAGAGCCTGGGCAAGGTAATGTAGACAGAGGGTTGTGGTGGTCTTGGAAGTCAGTGTGAGTTTTTCCTTCCGCTTCATCTGCTGCATCAGGCAAGTGCAGGCCAGCCAGGACACCCAGGGCACAAGACACAGGGCCCAGAGCTCTTTGTTTGATTTGACCAACCTAAAGGCTCTAATTGCTTGCCTTTCATCTGTGAAATATCTGTAGAAATATTCCTTCCTGCTGGACTCAGAGAACCCCAGGACCTCTACCCAACGTGCCTGCTCCAAAGAAGGAATGAGGTTCTGCAGAGCTGTGGTCCGAGCCGTGATCAGGAAGGATGCCTCGGGAAGTATAGTTTTCCCCAGCAAACTGCCCAGCAGTGCATCCGCCGGCTGTGGCTGGCTCCAGTGCAGACAGAGCTCAGAACTCGGCTCCTGCAAGACCCATCCTGGCTCATCTACACCATCGAGGATGAAGAGCAGCCGCTCTGGCCTAGACAGGATCTGTCTAATGGGAGCCGGAGTGGCTGTCCCATCTTTTCCGATGAGCTCAGCGAGACTCACCACCTTGGACTGGGCCAGCTCTCTGCAGCTGAAGTAGAAGACATGCTGGAAGCGGTCCCCATACAGCTGGCCTCTCCCCCAGGCTTCCTTCACCTGCCTGGCCAGTGTTGACTTCCCAATTCCAGCAGCCCCCTGCAGTATGACTATGCGAGGTTCTTGGGTATCCAGGCCTGGGCCAAATAAGTCTCTGATCTCAATTAAATGTCCTCGATTCTCCTCCACATAATCAGGCCAGCTTCTCTTGACCAGGGGATCTTGGCTTCTGGGGTGAGGTCTTTGTAGAAGTAGCAGCTGTGTGAATTTTTGGTTAAAATCCTCATTTTTCCAGGGCCATGTGGAACAGAGGCTCTCTCTCACAGAAGGCTCCCATGGGTGGTGGTGGGGCTGTAGGCTGGTGTGCGCCTGTGGGGGCGTTCCTACCACCGCTGCCCATGGGGGCCTGCCTTTCTCTGATTTCTCTCTCTCTCTTTCTCTGATTTCTAAGTAAGGGAGGGAAAGAAGGAACATAAAGGTAGAGAATAGAAGAATTAATTAATTAATTAAACAACTGTTTTAGGCACCTACTCCAAGCCACACACTGCGCTGTCTGCAGACACTGGTATGTTCTTGCCATGCGGCGGAAGGACATGTGCTTTGGGGTAGAATATCCCAGTTCAAGTCTTGACTCAACTAAGTCACACTCCCTGAATGACTTTCCTTCACTGAATATTTATCAAGGGCTTACTCTGTGCCAGGTGCTGCTATAGGGGTTGGGGATAAAGAGTGAACAAAACAGACACAACTCTCAGTCCTCACTAAGCTTATGATGCTGGCCATTAGCCCCTATGAGCCTCAGTTTTCTCATCTGTAAGCTGGGGGTTGTAGGTCATGGAGGACTGGAGGAGACACTGGAGTGTGTAGCAGATGCTGACAGCA | GTCCAGGCTGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCCTAGGGGACAGAGCGAGACTCCGTCTCAGACAACAACAAACCAAAAAAAAAAAAAAATACCCCACACCCACTCACAAGAAGATAGCCTTGATATATAAAGAAAATAAAACTGACTATAAAATAAAATGTACAATATGGTTCGATTTCGCCATAGACATGTGCACAGAAAAAAGACTGGGGTTCTTACAATTGACCACTAATTTTTTTTTTTTTTGAGACTGAGTTTTGCTCTTTTTCCCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCCCTGACCTGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCTGACACCATTTTCGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCAATTTTTAATGATGGTTATTACAGAATGATGGAATTCTTATTGATACTATTTTTCATCTTTTTGCTTATCTACGTTATCTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTGGCTCTGTTGCCCAGGTTGGAGTTCAGTATCACGATCTCAGCTCATTGCAAACTCCGTCTCCCAGATTCAAGTGATTCTCATGCCTCAGTCTCCCTAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGATAATTTTTGTATTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTACTGGAATTACAGGTGTGAGCTACTTCACCCAGCCTACATATCTTTTTTTTTTTCCTATAATGAACATGAATTTTATTGTGAGAAAAAGTTTTAAAAATATAAATATGAAGGCCCACATCAAACATTTCTTCCTCTGAGAATCTTTATTACCCACTCGTGTGATCACTCCCTTCCTTGGGCCACCACAGTACCTTGTCCATACCTCTACTGTTGTAGACATCACACTCTGTTGTCATTAAATGAATGTTTGTCTTCTCCCCTATTTTTTGAGCTCCTTAAGGCACGTATTGTGCTTTTTAATCTGTGATCTGTAGGGCCTGGCATAGAATCAGTGCTTAATAAATACTTATGGAATGAATCATCTAAAGCAGGACATAGACACATACCAATAGCATGTGATCGATACCACGACAGAGGTCGGGGAACCGGGATGGGGAAGTTCTCAGTACTGCCGGGCTGGAGAATGGTTGGAGGAAGCTATTCTTGCACAGCCAGAGAGTGGGTTTCAGGTTGAGTGCGTGGGGCAATGGTGGCACCACGGTCACAAATAATTATGAAGTCAGTTTTGCAGGGAAAAATAGGAAACTCTTTTTGAGAGCTGATGGGGAAGATCTCAGGGCCAATGTCGTTGTCATGGAAAGGGTTCCTGAAGCAGCTGGAGGAGCAATTTCTCCGAGAGAATGAATGCCCAGAGAGAGGAGCAGGGGTAGGGGGGCTGCCTGATCCTTGGGGAGTGTGGGGGTAGCTAAGGTCAGCAGGAAGGTGGGAGCACGTCCAGGAGAGAAGATGGACGGTCATTCTAAGGGTAGGAGGAGAGGTGGCAGACACGGCAGGGCCCAGTGGCCTCTCCAGAAGCAAGCAGGGCCTGCCCCACAGCCGGGCACTGCAGAGGAGCTTAGGTAGACAGAGCATGGTGGTCAGATTGGGCAGTTAGAAGTCACTGGAGACCCTGATCCTTTAGCCACCCCCACCCCCGGCCAGGCTCAGTGAGCATGCCTCTGGTGCTCAGGTCACTCGGGCTTATGGACTGACAGAGGAGCTGCAGACATGGGTGGTTTGGGTACTCACAGGACTACCATGGTGGGGCTCCATGTTGATCTGTGCTGCCTGCCCTCAATCAGCTGAAGCTTCTTCACGTGGCGGCTGAATTTAATGCAGAAATTGCACACTAAGAGCTCCATGTCTGTTTCTACACACATGCCCATTTCTTCGAAATGGGCCATCACTTGTGTCAGGAACGTTTTGTTCCGAGTCTCGTACAAGCAGTGGAGGGACTCCAGAGAGTGTGGCTGCAGCAGCAGCTGCAGGGACGGGACCCACTGCATCAGGTTCCTCCCCTGAGACAGCCGGCAGTGAAAGATGTTCTCCATCTCTCTCTCCCCCTCATCACTTAACAGGCCCAATAGGAAACGTGTGGTTGATGCCCCAAACAGGCCATGTATTCCATATGCTTCTAGCGTCTTTTCCAAATCTATGATGCAATTAGAATGTTTACCTCTCCCCTTCTCATCCTCCAAGACATAGGACATTGCTGCAAAGAACTCTTGGAAACAGAGGTGAATGAAGCTGTAGCTCAGAGGGATGGGGTGCTCTTGAAGAATACCCATCTTCAAGAAGGTGGAGATGATGGCCCCATCTAACCCATGCTTCCTGAGGTCATCTGGACTGAAAAGGGTCTTTTTTTGCCAGATGCCCTCAGCAGCCAGAGAGCAGAGGTCTCTGAGCTGGGGTCCCAATGGCTGAGCTTGGAGAGCCTGGGCAAGGTAATGTAGACAGAGGGTTGTGGTGGTCTTGGAAGTCAGTGTGAGTTTTTCCTTCCGCTTCATCTGCTGCATCAGGCAAGTGCAGGCCAGCCAGGACACCCAGGGCACAAGACACAGGGCCCAGAGCTCTTTGTTTGATTTGACCAACCTAAAGGCTCTAATTGCTTGCCTTTCATCTGTGAAATATCTGTAGAAATATTCCTTCCTGCTGGACTCAGAGAACCCCAGGACCTCTACCCAACGTGCCTGCTCCAAAGAAGGAATGAGGTTCTGCAGAGCTGTGGTCCGAGCCGTGATCAGGAAGGATGCCTCGGGAAGTATAGTTTTCCCCAGCAAACTGCCCAGCAGTGCATCCGCCGGCTGTGGCTGGCTCCAGTGCAGACAGAGCTCAGAACTCGGCTCCTGCAAGACCCATCCTGGCTCATCTACACCATCGAGGATGAAGAGCAGCCGCTCTGGCCTAGACAGGATCTGTCTAATGGGAGCCGGAGTGGCTGTCCCATCTTTTCCGATGAGCTCAGCGAGACTCACCACCTTGGACTGGGCCAGCTCTCTGCAGCTGAAGTAGAAGACATGCTGGAAGCGGTCCCCATACAGCTGGCCTCTCCCCCAGGCTTCCTTCACCTGCCTGGCCAGTGTTGACTTCCCAATTCCAGCAGCCCCCTGCAGTATGACTATGCGAGGTTCTTGGGTATCCAGGCCTGGGCCAAATAAGTCTCTGATCTCAATTAAATGTCCTCGATTCTCCTCCACATAATCAGGCCAGCTTCTCTTGACCAGGGGATCTTGGCTTCTGGGGTGAGGTCTTTGTAGAAGTAGCAGCTGTGTGAATTTTTGGTTAAAATCCTCATTTTTCCAGGGCCATGTGGAACAGAGGCTCTCTCTCACAGAAGGCTCCCATGGGTGGTGGTGGGGCTGTAGGCTGGTGTGCGCCTGTGGGGGCGTTCCTACCACCGCTGCCCATGGGGGCCTGCCTTTCTCTGATTTCTCTCTCTCTCTTTCTCTGATTTCTAAGTAAGGGAGGGAAAGAAGGAACATAAAGGTAGAGAATAGAAGAATTAATTAATTAATTAAACAACTGTTTTAGGCACCTACTCCAAGCCACACACTGCGCTGTCTGCAGACACTGGTATGTTCTTGCCATGCGGCGGAAGGACATGTGCTTTGGGGTAGAATATCCCAGTTCAAGTCTTGACTCAACTAAGTCACACTCCCTGAATGACTTTCCTTCACTGAATATTTATCAAGGGCTTACTCTGTGCCAGGTGCTGCTATAGGGGTTGGGGATAAAGAGTGAACAAAACAGACACAACTCTCAGTCCTCACTAAGCTTATGATGCTGGCCATTAGCCCCTATGAGCCTCAGTTTTCTCATCTGTAAGCTGGGGGTTGTAGGTCATGGAGGACTGGAGGAGACACTGGAGTGTGTAGCAGATGCTGACAGCA |
Task1_train_23318 | This alteration in NLRP1 (NLR family pyrin domain containing 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | TCCTGGAAACAGTGCCTTGGACCAGTGGAGAGGCTCCAAGGGTGGGATTTCCTGAGGGAAATTTCAGATGTTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCATCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGCCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAG | TCCTGGAAACAGTGCCTTGGACCAGTGGAGAGGCTCCAAGGGTGGGATTTCCTGAGGGAAATTTCAGATGTTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCGTCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGCCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAG |
Task1_train_23319 | An alteration has been detected in NLRP1 (NLR family pyrin domain containing 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | TTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCATCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGCCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAGGACCGTGAGACTCCATGTAGCGGGAGGAATGGCCTGGAGGAGGGCTGTGTGGGCTTTTTTTCCTCCTCAC | TTTTCCAGAACCTCTGCTTAGCCTGCCAACCTGGTCCCCAGGGGACTCTTTGTCCATACATTTGCCTCTCCCACCTCACCACCCCGCCAGGAGCTCAGTAGGGTCTCACCTGTGTAGTAAATTCCTGACGTTTCATCCAGAGGCCATTGGGTCCCAGGAGCCTCCTGCTCTCTGGGTGCTAGGCTGGGCTGAGGTGGGGATCCCCAGCTCCCCAGCACTGCTGTGGATGTGGGGGCGTTGGGTGACTCCTGGCTTGGAGACTCATGGTCTGGGGAGCTTGGAAGAGCTTGGTAGAGGAGTGAGGCAGAGATTTCTGGGGGGAATGAAAAGAAAAATAACCATTTACTGAACATTTATTTTCTTTTAGGTGCATATATTTTAAACTCTCACAACAGTCCTGAGAGATGGGTCTTAATAATATTATTTTGAAAACCATGTTGAAGTAGAGGGGCAATTTTATTCTCTTAGTAGTGAAGAGAGAAGTCATGTGAGGGAGCTGGCTTGGGCCGAGGACTAAGCCTAGCCTCTTCTTGGGGTCTGTCTGGAAAACAGAGTCCTCCTTGGAACTTCTGGACCACCCTGACCCTAAGGATCTTCAGAGCCCATCAATATTATGAGCTGAGTTCTCGGGCAAGGACCATGTCACGAGTTGGGCACCCAGTTGGGGAAGACTCATTGCCTGACCCACATGGGTCTCAGCTTCCCCATCTGCCACATGGGGAGGGATGCAATCTCAGCACCGGAAGGTCCCTGAAAGATCAATTTCAGGCCTACCTCTCACAGCCCATCCTGGCTCCCCTATCCTTCCTCTGCTGTCCCCCATGTCAGGTCCCCATGCACAGACATGATCCTCTGGGTGGGGCCCACCAGCTGATTCACAGCTCCACCCAGGGCTGTCAGCCTGCCTCAGCAAGCCTCACCTCTCCAGCGGCGTCCAGATGTGTCAGGCAGCTGTCTCAAAACCCTTCTCTCTGAGCCCTGGGTGCACCCCGCCGGCAATTCATGGATCCAGGGCATTAGCACTGCGGTGGAGGTGGGTTGGCTGGGAGACCCCAGGTGGGGTTCACTTGGGCTGTAGGGGAATGAGGGAGAGTGGCCTACAGGAAAGAGACAAAGAGGTTGGAGACACATCAGAGGGGCAGGGGCAAGGTGCCAGGGAACTGAGCTGGTCTCCTCTCTCAACCAAGAGAGGTCAGGATACACCAGTGAACCCGCTGCAGCCCTCTACAACTTCCTCTAGAGGCTTGTCTGAAGAATGATGTTCTTATAGATACTGCTAGGCAAAAAATCCTCATCTAGGATCAGGAAATTTGCATATCTGTCTTGGTCCTGACTATCTCCCTGTGTAAATCACTACTCCTACTGAGCCTCAGCTGTGCTTTATTGGGCCAACGGCATCTGCAACCCAGGGTGGCTAATAGTAATAATAACAGCAGCAGCAGCAGCAGCAACAACAGCAATGGGAGATCTTATTTATTGAGCACTTACTGTATATCAGACTCTGTGCTAAATGTTTAACCTGGATGATCTCTTTTAACCCTCACACAGCCCAGGGAGGCGGGCTCTCACTCTCCCATTTTGCAGACAGAGAAATAGGCAGAGAGCAGTGAAGTGATTGGCCCAGGGTGATAGTGCCAGGACTGGTGATAGTGCCTGACTCCCAAGTCCGTGCTCATAACTACAATGCCAGGCGAGTACCGGGAATGCACTTGAATAGAAGAGGGTGTGGGGCTCTGAGGTGCAGCAAGGGCCCCCCCAGCAAGCCTCCTGGCTCCAGCATAGTCTGGGGCCTGGATCCCCCTTTGAGAGGGCAGTTCCATGTCACTGCTCAGAGGAAGGCCTGGCAGGGAGGGCTCAGTGGTGGGGTCCCAAGAGGGCAGGGCAGGCATGAGGGCCAGGGGATGTCCCGCGGGCAGTGGGGTCCTCTGTCCACTCACCTGCCCCTTCCTGGGCTTGGGCGCACAGTGACCTCAGCCCCATCTGCTCCCAGGTATGGAGGGCTAGGTCCCAGGCCCGCTGCTCCCCATACTGAGCCACCAGGTACGAGGTCACCTCCATGCCACTCGTCTTCTCTGGCTGAGCGGGTGTCTCACCCGAAGAGCTCCTGGAGTGCGCTTTATTGGCGAGCAGAAGCTGGAACTCCTTCAGCTCCTCCTTCTTCAGGAACTCCAAGTAACAGGCCAGGCGGCCCCAGGCTCCGCCAGCCATCTCTGTCCCGGAGTTAAGAGGGTGTCTGGGGGATGTTCCCAGGTGGTGAGGGTATCAGGCAGGCAGAGAACAGTGCTGTCCTTTGCCTTGGCTCTTACCGTCTCTTATTCAGCATTCGGAACCCAGTTTTATAAATCCCAGGGCACCTACAGATAGACGCCGATAGAGGGGGAGTGGTAGGAAAAGCCAGGGGAGGGAGGAGCCCAGAGGGGCCTGCAAGACACTGGAAGAAGTCAGCTGATAGGGAGGTCCTGGGATGGGGTCCAGGGCCAGGCAGGGAGGGTGAGGGTGAGGGGAGATGTGGTGACGGGAGATGGGGTGTGGGCAACGCTCACTGTTCTGTGTTCCTCAGATTCTTCCCTCTCCTGGGTCCTGGACTCCTGAGATCAACCCTTGAGCTGCAAGGCTGAGAAGAGGTGGGGTGGGAGGAGCCGCAGAGCAGGGAATGGGCTTTCAGAACCCAGAGTGGAGCCCCGGGCTGCTGGCTCCCAGGTTTCTTCAGACCTCTCCAGGCCCTGGGGCACCAGCCAGCAAGAACAGCGCCTAGTCAACAAGAGCAGGAAGGAAACGTCACCCAGAGGAAACCCACAAGGGGCGTGGCCAGGGGGTAGGATCAAACCAGGCCTGGGTAGGCCAGACTCAGAGTCACAGATTCAGATGGGCCACATGGCATCTATAGGCGGACCAGGAGCACAGGCCCAGACCAGCTGACGCTGCAGCAGGTACAGGCCCATACTAAACACGGTGTGTGCACCTCCACATGGGCACTCCGCCAGCCCATCATCTAGAGCCTGTCTGCAGAGCCAGGATGCAGACTCTCCGAGCAGTTGTGTCTGCAGCCCAGGCCCAGCCTCTCAGGATGGGTGGGGCCCCCTGTGTCTGCCCGGGCAGCTCCTTATTGGGAAACATTAGAACTGGGCCAGGGAGCATTTTTCCCAGCCTCTCATGGTTTTGGGAGCTTCTTGAGTTGCACTGCATGTCCTGCCATGCTACCAGGGGCACTAAAGCATGTGTCCCAGGCCCAGGGGGCTGTTTGCCTTCTGGGCAGCCCAGCACTTAGCTGGTGAACATTTCCACCTGAAAGCAGAACAGCCCCTTCCTCATTCCTGCAAGCAGGCCTCGGGGAGCCAGGGGCAGACTTCCTCTTTCGTGGAATCTGCAAGATGCCAATGACTTCAGGTTGAGGAATGACATTGCCTACTCATTTGCTGATGTAACACACCACCAGGAATTTCTGGAGATGCTTTGGTTTCACTTGGACTGGCAGAGCCCAGGCTTCAACCCACGGCTTGCTTGGACAAGGACTCCTTATGTGCCTGATTTATTTCTTTGAGCCTCAGTTTGCCCATCTATTAAATGGGACATCATAGGTTTACCAAGAGGCTTCAATTCAGCAAAAGGTCTTAGAGTCTCTCTCTCTTTCCCAGGCTGGAGTGCAGTGGCAAGATCTCGGCTCACTGCAAGCTCCCTCCACCTCCTGGGTTCCAGCGATTCTCCTGCATCAGCCCAGCTTCCTGGGCAGTTGGGATTACAGTCACTCACCACCACGCCTGGCTAATTGTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGTCTGATCCGAGGTGATCCGCCCACTTCGGCCTCCCGAAATGTTGGGATTACAGGTGTGAGCCTCCGTGCCTGGCCTAAATAAATTTTATAAATGTTAGTTTTAAAAAATGGCTAATAAGCACATTGTAGGACATTCTAATATCAGATTGACCAGAAGTGGAAAAGTGCTGTGCTAAAAGTGGGATGATCGGGAGGCTCTGAGCACTCCGTGAAGGACCGTGAGACTCCATGTAGCGGGAGGAATGGCCTGGAGGAGGGCTGTGTGGGCTTTTTTTCCTCCTCAC |
Task1_train_23320 | Given a variant located on Chromosome 17 and affecting AIPL1 (AIP like 1 HSP90 co-chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | GTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAACTTTAGGGATACAGTTAGCGCTGGGGGAACCCCTGCTGGGTGGAGACAAGCTCTGGGGCAGAAGAGAAGCCCAGGAAGCCCTTGGCAGTTGACTACGTGGCCCTGGGCTGGATACTTCGTCGCCCCCCTGCCCCACCCCACACACCTGGGTGGTGCTAGAGGATGTCGCTGGCGTGATAGCCCCTCCTCGTACCCGTCCTTTAGGGAGGACGAAGAGGAGGGAGAGAGTTGGAAGGGGAAGGTCCCAACGCTGCCATGCTCATCAGACACAGAAGGAGGTCACCAGACTGAGGCAGGCGGTGGAGCTTGGACACCAGACTAACTTGAAGATGAGCTAAAACAGGGGCGAGTGGAAGCGGCTTTCCCTAAGGCATGACCCCCAGGGTGCCATGTCAGTTTACCATTGCCGTGGCAACACCCTGGCATACTGCCCTGTTCCGTGGCAAAGACCCCAGGACCCAGAAGTTACTACTCCTTCCCTAGAAATCTTTGTATATGCAGCTCCTTAATCTACATGTAATTAAAAGTGGGTATAAATCTGACTGCAGAACTGCCCTGAGCTGCTGCTCGCTGCCTATGGGGTAGCCCTGCTCTGCAGGGCAGTCACAGAGCTGCAACACTGCAGCTTCAATACAGCTGTTTTGGTTTTGGTTTTGTTTGTTTTTCTTTTGTTTTTTGTTGTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGAAGTTTTACTCTTGTTGACCAGGCTGGAGTGCAATGACGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCA | GTTTATTGATTTTCAGATTGTAGAATCAACCTATGGACAAAGCACAGAAGATTTAGTTTTGCTTACAGAGCAGAAGGTAGATGTTAACAACAAGGAAGATGGAAAAGTAAAGTACATCAGAACTTTAGGGATACAGTTAGCGCTGGGGGAACCCCTGCTGGGTGGAGACAAGCTCTGGGGCAGAAGAGAAGCCCAGGAAGCCCTTGGCAGTTGACTACGTGGCCCTGGGCTGGATACTTCGTCGCCCCCCTGCCCCACCCCACACACCTGGGTGGTGCTAGAGGATGTCGCTGGCGTGATAGCCCCTCCTCGTACCCGTCCTTTAGGGAGGACGAAGAGGAGGGAGAGAGTTGGAAGGGGAAGGTCCCAACGCTGCCATGCTCATCAGACACAGAAGGAGGTCACCAGACTGAGGCAGGCGGTGGAGCTTGGACACCAGACTAACTTGAAGATGAGCTAAAACAGGGGCGAGTGGAAGCGGCTTTCCCTAAGGCATGACCCCCAGGGTGCCATGTCAGTTTACCATTGCCGTGGCAACACCCTGGCATACTGCCCTGTTCCGTGGCAAAGACCCCAGGACCCAGAAGTTACTACTCCTTCCCTAGAAATCTTTGTATATGCAGCTCCTTAATCTACATGTAATTAAAAGTGGGTATAAATCTGACTGCAGAACTGCCCTGAGCTGCTGCTCGCTGCCTATGGGGTAGCCCTGCTCTGCAGGGCAGTCACAGAGCTGCAACACTGCAGCTTCAATACAGCTGTTTTGGTTTTGGTTTTGTTTGTTTTTCTTTTGTTTTTTGTTGTTGTTTTTGTTTTGTTTTGTTTTTTGAGATGAAGTTTTACTCTTGTTGACCAGGCTGGAGTGCAATGACGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCGGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCA |
Task1_train_23321 | A variant on Chromosome 17 in gene AIPL1 (AIP like 1 HSP90 co-chaperone) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Leber congenital amaurosis | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCGCTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG |
Task1_train_23322 | Consider this mutation in AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Leber congenital amaurosis 4 | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG | CACTGCAACCTCCGCCTCCCAGGTTCAATCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGACCACAGCTGTTTTCTTCTACCCTACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCGCTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGG |
Task1_train_23323 | An alteration has been detected in AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leber congenital amaurosis 4 | ACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAG | ACCACTGGCGCTTGCCTTTGAAATCTTTCCTGGGGGAGGCCAAGAACCCTCTCAGGCTAAGCTCCAGTGTCGGGGCTTGCCCACCCTACATCAAGACCCACTAAAGTCAGTGGGATTCTAGAGAGCTCTAAGTGTCCTGCGTAAAGTTACAAAAATCACCGAGATGACCCCCAAATGTAACTATCCAAAATGGGGAGACAGGGAGGGGTATCAGGCATGAGAAAGGATCAGAGCATCAAATCCTCATTTGTCATTGACATGGGGTAAAATCTAGAAACTGATTTAAACAGATTACTTGGAAATAGAGAAAACTACCAGAAGAATTAAAAACAGGGTCAATTAAAACCATGGCACGGAAGGAATGAGAGGGGTAGAGGAGAAAACTACTTTTATTCATAAGCTCTTCTGTACCCTTGGGATTGTTTTTTTTTTTTTTTTTACCATGGGTGTGTCTGACTTTGATTTCAAAAATTAATTTTAAATTTTAAAAAGTGACACCACGATCCTGGTCAATCGAACCAGAAGTGACCAGGCCACTTGCTCCCTGCCTGGGTGGCTGTGGGCCTCAGGGGGCTCAGTGCTGCAGCGAGTGCCCTGGGGACGGGGGTGGCTCTGTGGCTGGCTCTGCAGGGGGCCCTGCGGACAGCTCTGCAGATGGTGCTGTGGGTGGCTCTGCAGGTGGCTCTGTGGATGACTGTGCGGGTGGCTCTGTGGGTGGCTCTGCGGGAGGCTGCGTGGCACCCTGGCTCAGCATGTTCCGGCAGCGCAGCCGCTCCTCCTCCTGCTTCTCCGCCATGCGGTTCTCCAGCAGCCTCAGCTCCCTGCGCACCGCCTTCTGCATGGACGGCTCCAGCTCCAGCACTTTCTGGAGGTCCGCCTTGGCCTCGGCCTCATTCCACACCTCTGCGTGAGCCCGGGCACGCACGTAGTAGGCCTTCACGATGCCTGTGGGGAGCAGGGAGCATCCAGCTACAGCTCCCTTCCCAGCCTCAGAGGCAGCCCCAGCCCAGCTGGGACTCACCAGCCTCCAAGACCCTCAGCCCCGCCATGATCCTTAACCTCTCTGTATCCCCCATCCCTCGGTTTCCTCAACTGTAAGATGGAGATGATGATCATAATAGCAGTACCTCCTCCTCTCCTTTTTAAGGCCCTGTGAGTAATTTTATATTCATAACTTTGTTTTATTTTTCTTATAGACGCTACCTAAATTAGATAACCTTCAGGCCCTTTCCCTGCACCTCCCTCATATGGTGATTATGAGGATTATGAGGATTAAATGAGATAATAAACGCAGACGACGTGTGCCTGATGCATGAGCCAGGGGCTGGATGTTTTTACTGTGAGCACGATTCGAGCATTAAGTCAATACTAGTACTGACGGTGCCATATCCTCGCAACACCAGTACTAGTACCGACATCATAATATTTTTCCCTATATTGATTGCCCCTCTTTTTTAAACGCCTGTTTACCGTTCCGCTGAAATCACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGGCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAG |
Task1_train_23324 | Gene AIPL1 (AIP like 1 HSP90 co-chaperone), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Leber congenital amaurosis 4 | ACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCCGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAGTCGCTTTGGTGTCCTGGCAGTGCTGCAGGTTAGCGGTGAGCCCAGGTCTCTGCACTTCTCTGAAACTCAGTTCCCTGGGTTGCTCCTGTTCGATATTAGGGCTGCTGTAGGGATTAAATGAGATGGTGCAGATATAGATCTGGCTCATCACAGCTTCAGCCAGCATGGGAGCTGAGTTTGCCACCCTTGGGATGAAGGAGGGCTGGGAAGATCCGCCGTGCGGCCTCAGCGAGGCCTGCTGTATGTATGCTGGGCCTCAGTTTCCCCAACTAGGCTCCCTGAGAACCCATCTCCTTGGACCGGCTTCTGAGATGACCCAGCACTGGCCCCACATGCAACATGTGAAGTGAAGGGGCTGAAACTCTATGCAGCAGTTCAGCTCTGCCTCCAGGTCACCAGCACAGAGACAGAGGTCACCCTGCCCGCCCCACCGGCCGGGATTAGCCCGAAATGCCTTCTGCCTCTTTATGGAAGAGACAAGCAGATGGCTGTTGAGCCTGTTGGGATTAGAGCTGGACCAAGGGAGGGAGAGGCCCCAGAACCAGCTTACTGCAGGGAGGGGCCACCTTTGGCCCTGACTCAGCAGCCCCCAGCTCGGCACCCCATGGCTCCCAGCAAGCTGAGCGTGCTTTTGTGGCCCCAAAGCACACTGCCCTCACTTATTTATGTCCTGGCACTGGCTGCCCTGCATTACAATTGTTTAGGTGTCTGCTCCTCCTGCAGAATTCAAGTTCCCTAAGGGCTAGGGGCTTTGCCTGTTTCACTCCTAACATACAGCACAGGCCAAATCAGGTGCCCAGTGAATGTTTTCTAACTAGATAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAATAGATACACGAATGATAGGAGATAGATAGAAGATGATGGATGCATGCATAGTGACGGAAGACTGGATTATGAATGAAGATTGGTTGAAGGGAAGAATGGATGAAATGATGCCCGGGCAGGTGGGTAGATGGATAAGAGGTGGATGTGCAGGTGAAGAACTAACTCTAGAAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCGTACATGCACACAATCACGGCAGCCATGGGCTGGGGTGAGGAGATGTGCGGGGCATGGAGATTAGGAAAACCCATAGTTACCATGGGGAGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGTCAAGGCCAGTGGCTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGTTGAAATCCCATCTCTACTAAAAATACAAAAATTGGCCCGGTGTGGTGGTGAGCACCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAATCCCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAAGTCCGTCTCAAAAAAAAAA | ACAAGCTTGGCGAGCTTCCTGGGTAAGTGTTCAAACACACATTAAAATAAAGGGCCGCCCCGCGCCAAGCACTGCCCATCCATCACCCACAATTCAGTTACACACTCGGGGAAACCCGGCTGGGTGGAGACAAGGTTTGGTGCCCTGGTGGGGTGGAAAGAAAAGTCCAGGAAGGCTATGGCAGGTGTCTCCGTGGCCCTGGGCTGGGCGCCCCCTCACTGTCCGCCCCTGCAGCCCCGCGCACCTGGGTGGTGCCGGAGAATATCACTGGTGTGCTCCAGCACCTCATAGTACTCCTCCTTCTTCAGCAGGCACTGGCAGTAGTTGAGGATCAGAGTATTGATCATCTTCTCCAGCTTCAGCCACTGCACCTCCCATGGCTTCTCCTGCCCAGGGAGAAGGTCAGCCATGACCTCAGGCAGCTGCCCAACCCCCGCCCCACCCTGGCCGGCACTGGGCAGGCCCCCCAGAGTCAGCGCCACTTCCCACCCCTGGCCAGCGGCCTCTGACCTTGGTCTGCAGGTTCCTTAGGCAGATGATGGCCTCCTGGTACTTGGAAGAGGCCTCCTCGTAGCGGCCCAGCTTGAAGAGCCGATTTCCCTCTCCGTGGAGGACGGGCACCGCCTTCATCTTCTCATGATTGCTCAGGTTCCAGGTCTCCCTCTGGTAATCACTCGGGGCATCAACCTGGCCCCAGAGCTGCAGGTCAGTGAGGCAGGGACCCCAGGGGCCTGCACCCCATCAGAGACCCGAAAAACAGGACCCTGTGGCACATCTCCCTGAAGTCATGCTTGCTGGTCAAGTGCATACAGACAAGGGAAAGAAGCAACAACGCCGAAAACCCTGCCCTAAATCAATGTCTTTGTGCAAACTAGGAAAAGGTGCCCGTTCATCAAGACACTTCACTTCTAATATTCAGAAAATTGTCACGAATACTCGTTTTGTTAGAACAATACACTATTGCCATCTGCTGGAAACTTCTCATTATGGAAATACCAATATACAATGTCTATAATGAGCACCTTGGAGGAGATGCCGGTGCACCTTGTGCAGTGCACAGACCACACAACTGTGACAGCAAGCCTGTAAGGGCCCTTGGTTGACACAGTTCTTATTTTATTTTTATTCACCCACATAGCTCTCAGGCTGAGCCTCAGTCTTGGCCATAAGCTGAGTCCTGACCTGACCTTGACCCTGGCCCTAACCCTCTCTCACCAATCCACAAACACGCGCTGCCAATCACTCTGGGGCTCTGGTTGGGAGGATGTGGGGAGTTCCATGCAGCCTCTCCCGCCACTAGAGAACCAAGTCTGAACCCACAAACCACAGGAACCAAGGAGGCGGTTATAATCTCCAACTCCTGAAAATGAAAGTGGAAGTGGATAAAATGCCTCCACAATGAAAATGAATCACATTTTTAAAAACTGGTTCCAAGTGGACTTTTTTTTTTTTTCTTTTTTTTGGACATGGAGTCTCACTCTGTCACCCAGGTTAAAATGCACTGACATGATCTCTGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCATGCCTCAAATTCCCAAGTAGCTGGGATTGATTACAGGCATGCACCACCACACCCGGTTAATTTTTGTGTTTTTAATAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCCCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGGGCCACCATGCCCAGCACCAAAGGACTTTTCTTGTGGAAAAATCAGAGGACTTTTTTTTCAAATTCGTATTCTCCCATGGCTTATGAACCCTCTCGTATTATCTAAACAGAAACAGGGCACTGTCCAGTGGCCAGTGGGGTGGGGGTGCCCATGATGCCCGCTGTCCCTCTCCAGTGCTGGCACAGCCCTCCAGCCCTGCCAACCCCAGCCCCACCTGCAGCAGCTCGATCACAAAGACCAGAGGCTGAGGCTCCTTCTGCAGCTCGTCCAGGTCCTCGTAGCCCAGCGTGTGGTAGGCGAACATGTTGGCCAGCCTGCACGTGTGCACGTGCCACTCTGTGGGGTCCTTGCCCTGGGCCATCTGCCTCAGGCTCCGGGATAGGATGGGGTAGACCCCCGTGTGCTGTGGGGATAAACGGATGGATGGCATCCAGGCTACCTGCCCAGAGCTAGGTGGGCCATAAAAGGCCTCCACTCAGAGCCCCTCCTGGGAGGAATCCTGCTCCCTCACTATGCCACTCATACTAACTGTGGTTAACTGTGTGCCAGGCAAAGCACTTCACACTGTTATGAGCCCCTTCAATCCTTATGACAATTCAAGGCAGGCACTATTATCCCCATTTTACGGATGGGGAAACTACAGCCCAGAGACGCAAAGCAACTTGCTTAAGGTCACACAGCTAGGAAATGACGCAGCCAGGATTCAAACCTGGCTCCAGAGGCCATATGCTGTTAGCCTCCGGCTGCCTCTTCTGGCCCTTGTGGTCCACTGTAACACATCTCTGCCCCAGGGAAACCCTGACCTCTGCAAAGCCTATGACTCGCAGGAAGGGCAGTGTGGGGCAGTAGAAGGAGCAGGACTCCAGGGTCCAAGAGAGTCGCTTTGGTGTCCTGGCAGTGCTGCAGGTTAGCGGTGAGCCCAGGTCTCTGCACTTCTCTGAAACTCAGTTCCCTGGGTTGCTCCTGTTCGATATTAGGGCTGCTGTAGGGATTAAATGAGATGGTGCAGATATAGATCTGGCTCATCACAGCTTCAGCCAGCATGGGAGCTGAGTTTGCCACCCTTGGGATGAAGGAGGGCTGGGAAGATCCGCCGTGCGGCCTCAGCGAGGCCTGCTGTATGTATGCTGGGCCTCAGTTTCCCCAACTAGGCTCCCTGAGAACCCATCTCCTTGGACCGGCTTCTGAGATGACCCAGCACTGGCCCCACATGCAACATGTGAAGTGAAGGGGCTGAAACTCTATGCAGCAGTTCAGCTCTGCCTCCAGGTCACCAGCACAGAGACAGAGGTCACCCTGCCCGCCCCACCGGCCGGGATTAGCCCGAAATGCCTTCTGCCTCTTTATGGAAGAGACAAGCAGATGGCTGTTGAGCCTGTTGGGATTAGAGCTGGACCAAGGGAGGGAGAGGCCCCAGAACCAGCTTACTGCAGGGAGGGGCCACCTTTGGCCCTGACTCAGCAGCCCCCAGCTCGGCACCCCATGGCTCCCAGCAAGCTGAGCGTGCTTTTGTGGCCCCAAAGCACACTGCCCTCACTTATTTATGTCCTGGCACTGGCTGCCCTGCATTACAATTGTTTAGGTGTCTGCTCCTCCTGCAGAATTCAAGTTCCCTAAGGGCTAGGGGCTTTGCCTGTTTCACTCCTAACATACAGCACAGGCCAAATCAGGTGCCCAGTGAATGTTTTCTAACTAGATAGGTAGGTAGGTAGGTAGGTAGGTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAATAGATACACGAATGATAGGAGATAGATAGAAGATGATGGATGCATGCATAGTGACGGAAGACTGGATTATGAATGAAGATTGGTTGAAGGGAAGAATGGATGAAATGATGCCCGGGCAGGTGGGTAGATGGATAAGAGGTGGATGTGCAGGTGAAGAACTAACTCTAGAAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGCGTACATGCACACAATCACGGCAGCCATGGGCTGGGGTGAGGAGATGTGCGGGGCATGGAGATTAGGAAAACCCATAGTTACCATGGGGAGCAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGTCAAGGCCAGTGGCTCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGTTGAAATCCCATCTCTACTAAAAATACAAAAATTGGCCCGGTGTGGTGGTGAGCACCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAATCCCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAAGTCCGTCTCAAAAAAAAAA |
Task1_train_23325 | This sequence change occurs on Chromosome 17, altering AIPL1 (AIP like 1 HSP90 co-chaperone). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leber congenital amaurosis 4 | CAGACTTTTGAAAAAGAGAGAAAGAGAGAGAGAAGAATCTGAATCTTATCAGGCCCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCA | CAGACTTTTGAAAAAGAGAGAAAGAGAGAGAGAAGAATCTGAATCTTATCAGGCCCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCGCCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCA |
Task1_train_23326 | A variant found in Chromosome 17 affects AIPL1 (AIP like 1 HSP90 co-chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leber congenital amaurosis 4 | CCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCC | CCTCTAGACCCCACTTTCAATTTATCAAAAATGTGGGGAATAGAGGAGCATGTTAGACAATTCCATGGCGAAGGAACCAGGAAAATCAGAATGTGGGACTTCTACAGGATAAATGACCCAGTTCCTTCAACACTTCCATGTCAAGGAAGAAAAGAAGAAAAGAAGGAGGCCGAGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCAGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATTCTGATCAACATGGTGAAACCCTGTCTGTACTAAAATACAAAAAATTACCCAGGCGTGGTGGCGGGCACCTGTAGTCGTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCCAAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCTGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAGGAAGTAGACCTATAGATAAAAAGGCACTTGAGAGACGCATCAACAAAGCGCTATGCAGAGACTTTGTTTGTTCGGTTGTTGATTTAAACAAACCAAACTCATTCATTTATAAAGAATAAAAGGAGTCAACCAAAGAAAATTCAACAGTGACTGGATATTAGACGGCTTTAAGGAATTACTGGAGTTTTTAAAAGATTTCATAATGGTACAATGGTAAAGTTTCTTTAATATCCTCTTTTTTTTTTTTTAAGATGGAGTCTCACTCTGTCGCCAGACTGGAGTTCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCCAACTCCTGACCTCGTGATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATATCCTCATATTTTAGAGATACAAATTTTAGTATTTACAGATGAAATGATATGGTGTCTGGCATTTGGTTTAACCACGCAGGACAAGGAAGGGAAGTGGGTGGGTTGGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGAACTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCC |
Task1_train_23327 | Here is a variant affecting AIPL1 (AIP like 1 HSP90 co-chaperone) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGT | GGGAGATGAAGCAAGACCAGCCGCGGGTTGATGGTGGCCGGCACTGGGTGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCGGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGT |
Task1_train_23328 | Here’s a variant in AIPL1 (AIP like 1 HSP90 co-chaperone) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leber congenital amaurosis 4 | TGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCATGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGTTGGGAGGGCTGCAGCAGTGAATGGCACCCTGAAATCCGGCACTCATGA | TGACAGGTACTCGTAAGTTCATTATTCTTTCTGCTGACTTTTGTATATGTTTGAAAGTTCCCATAAGAAACGTTGCCTAAAGGTCAGTGAGTTTTGCCATAAGGCAAGGAAGCTAACTTATAGGAGTAATTTACGGAGTGCCATAAATAGGAGGGCAAACTTGCAATGTGAGGAGGAGGGCAAAAAAGTGACCAGTGCTGCTCTAATCATGCTGTATAAAATCTCCAGATCTAATCATGCTGTATAAAAAGCAAGGACTTAGCCGGGCAAGATGGCTCATGCCTATAATTCCAGCACTCTGGGAGGCCGAGACAGGAGGATTGCTTAAGCCCAAGAGTTTAGGACTAGCCTGGCCAACGTGGCAAAACTCTGTCTCTACAAAAAATACAAAAATGAGGTGTGGTGGTGCACCTGTAGTCCCAACTACTTGGAAGGCTGAAGTGGGAGGATCACCTGAGCCCGGGAAGTTGAGGCTGCAGTGAGCCATAATTACGCTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTATCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACAGATGTGAGGACTGTGAAGTGGGCCAGCTCACTCCTGCTGGTCATAGCCCTGCTCCCCACCAGCCAGCCACAGCATGGGTCACCCCTTCCAGCCCTTGTTCCCTCCATCTTCACATGCACAGCGGTGGGGAATAAGTTTGCAGGACTGGCTTTGCAAAGCTTCGCTTGAGTCCCAGCTTTCCCGAAACACAGCAGCCCCGCAAAGCGGGTGGGTGAGCCCAGAAAAGACTAGTCCCAGGAGACAGGCGCGCAGGGCCTACTTACGATGGTGTCGCACCAGAACTCGGCCACCTCGTGCACCCGCATGGAGGTAAGCAGGATCTCCCAGACCTCGAGCTTGAACATGTTTCCGATGATGATGTGCATGGGCTGGCCCACCTGCCGACTGTCGTCAATGACTGTCCGCTCCTCATCACATTTCATGGTGCGGAAATGAAAGATCACCTAGTCACCGAGACGGTGCACTCTGCTCTAGACACACTGTTCAAGGCCCGGCAGAAGCCACCCCCTTGCCACCGACACCCAGGGCTGTCCCCAGGGTCAGCTCACTCAGTTCACCCCATCAGATGCCTCAGACCCCTGGAGCACCTCCACCCTGCCTGCACCCCCCAGGGAGGAGGGACCCACCCCTCCCTACAGACCCCATTCCACTCCCCACAGCCCTGTGCGTCCAGAAATCCTTCCTCAAGTAAGCCCGAGTTCTTTTTTTTTTTTTTTTTTCTGAGACAGAGTCTCACTCTGTTGCCCAGGTTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTATCTGAACTGGGATTACAGGCGCCCAGCACATCTGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTCATGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCGCCTCGCCTGGCCAAAGCCCGAATTCTGTAGCCACAGACGCACCCTTCAGTCCAGGGAAGCCTAACAGACATTTGGGGACAAATACCAAGACTCCTCGGACTCCCTTTCTTCTCACTCAACATTTAGGGCCCCAGAAAATTCCCAAAAGCCCTTCCCCTCAGCCCATGCTAAAGTTGAATCTGCAAAGTACCAAAAATGCCCCCTGAATGGGTAAACGCTGGGAGCTCCCCGGAGGCCCAGCGCTGGGGCTGCCTGGCTGTTTTTTTGGCACAGCTGAAAGCTGTTTACAGTGCCTTGGGGCACACCTGGAATGTTGAAAGCTGCTGTGGGGGACCCTGTCTGCTCCGGAGGGGCCCCACTCACTCGGGATCCGGTGATGAAGTTTGGGAGCTCGCCCGTGCCCCCGTGCAGAATGGTTTTCTTGACCCCTTCCACGTTCAGGAGCAGAGCGGCATCCGTGGCTGCAGGAGAAAGGGAGGTGTCCAGCACAGGCGGAGATAATCTCACCTCCGGGGAAGACACTTAGGCGGCTGAGACTCTGGGATTTACCCAGCCAGGAGGAGTGGGGGGAAGGGCAGACGGTGGGGGCGGTGACCTAGGCGCCCCGGCTTCTCATCAGAGCCACTCGGGCCGGGCCTGTGGTCCACAGGCAGCCTCGCCTCCTATCCCATCCACCTTTGCTTCCAGTGATTCTGGGCCCCTGCCCAGGGTTGTGCTAGATTTGGCTTTTTGTTCCACCCCAAGAAGGAAAAAGGTCCGCTGAGCTTTCTTAAAGAAGACAGGGGACCAGGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGGGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACTCCAGCCTGGCGATGTGGAGAGAGGCCTGGAGGCCACTGAAGGGGAAAAGGAGGGGAGGCATGGGCTGGGCCCAGACTCTAAGTCCCCGAGGACCCCAGGCCAGCCGGGGTGACAGCTGCCCTTTGCCATCCAGCCACCTTTCTGCTTTCCCTGTTCCCCCTCCCCTCCCCAGAATCTGCCTTCAGGAGGCCCTGCGATGGTGGCCCAAGGCAAGAGGGGACAGGTTTCTGGCTTGGGAGAGAAGGAAGACGGAGAACGAAAGGCGGGGTGGGTTTGGGTAAAGTTGAGGCGCCCTCCGCAGCCCCGCTCCTGCCTCCCCTGCAAGGTCTGGCTGGGGGAAGGGTGGGTATCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTTGGAGGCCCTTAGCCCTGTGCCCTGGGAACCAGGCAGAGTTTATTGAGGGCATCAGGGACGCCCAGAAGGGCTGGGAAACATAAATGCGAAGACCTGGTGTTTGGCACCACCGTGTGGCCAGTTCAAGCTCCTACACCTCCGCACCCTGAGGGCACTGGACTCAGCTCCACGAAACCATTCTCTTCCTGACACCAGGCTCACCGGTTGCAGAGGGAAGGGGTGCAGGACTCTGCTACAGGGAGAGATAAAAACACGGGACTAAGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTTGTATTTTTAGTAGTCTGTACTAAAAATACAAAAATTACCCAGGCATGGTGGTGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGCCTCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGAGCAACACAGCGAGACTCTGTCTCAAAAAAACAAAACAAAACAAAAAATGCTAGACTAGGCTGGGTGCAGTGGCTCATGGCTGTAATCCTAGGACTTTGGGAGCCAAGGCAGGTGGATCACCTCAGATCAGGAGTTAGAGACCAGCCTGGCCAACATGATGAATCCCCATCTCTACTAAAATTACAAAACTTAGTCGGATGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTTGAATCCAGGAGATGAAGGTTGCTGTGCACCAAGATCATGCTGCTGCACTCCAGCCTGGGGCACAGAGTGAGACTGTGTCAGAAGAAGAAGAAGAAGGAGAAGGAAGAGGAGGAGGAGGAGGAGGAGGGAAGAGGGAAGAGGGAAGAGGGAAGAAGAAGGAAGAAGAAGAAGAAGACTGGACTGAGCCAGATACAGCTAAGTTCAAAGGGCTGATCCTTTCCTATTTACTGACCTTGTTGCCTTGGATGTCTCTCGTTTTCTCTAACTGCATTTTCCCAACTGAAATGAGAAAATTGACCTCTCCTGCTCCTTCTCAGGGGAAGTTGGGAGGGCTGCAGCAGTGAATGGCACCCTGAAATCCGGCACTCATGA |
Task1_train_23329 | Here is a genetic alteration in KIAA0753 (KIAA0753) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Joubert syndrome 38 | AGCTTTAATTCACTAGGTAATGGCTTTGTCTTGTATTCTCCATAAATCCTAACGAAACTAGGTAATAGTAAGCATTACTTCCAATGCACCTCTAACAAAAATTGGAATTAATTCCATACCTCAATTTGTTGCAGAATATCTATAACCACATCAGGAACAGAAGGGTCTGCATCCAGCTTGACAGAACAAAGTGAAAGCTGGCGAATAAGGCTGCCCAGTTCCTTACACCGAGCAGGAAGTGGATGCTCCCCTCGGTCAGTAAACTGAGTGACAAACATCTGTAAGGCCCGAATGGCTCCTCGATGGGCAGCCGCCAGCTTAGACATTGCCCATGACTGGTAATAAACAAGATGAGAGAAGTTATTTCCATACTCAGAACTTGCTAACATTCACCCAACTTCTAAGAATATTTATAGCCTGTCTTCTTTCTGTATAAAGTGCTTTCTATTGTGAAAACTTTTTCATAGTAAAGGGAGTTGTAAAGTTTAAAGTTTTCTAGTGGCAGTCTTTTCCTTACTACTTCCAATTTTTTATACCAGCAGCAACAACAACAAAAATCTATTTTTTAGAACCTGTTCCTTAGAAGGCAACCATATTCAGAATATGTAAGGTGCTCACTCCCTCACTAACAGGTTTCTGCAAGTACTGAAAATAACATTAGTGCAGAGGGCCCTACACAATACTAACAAAACACTGGGAAATGTCATTTATAAGCAAGTATTGATCATAATTTAATTGCAGCATACCTTCTTAGTGTGTTTAATTTTATGTGGACTCAATTTATCCAATTCTTCCTGGATTTCTTTTACCTGTTTTGTAAAGGGGAAAAAAGAAAACTTCATACCTTTCCATTGATCTTTTTTGTAGAAAAGGATGCATCGATATATCTCCTCTTGTCCAAATATAACCATTATTAATTCAAGTCACTTGAAAATGAAAAAAAGGCTCTTCATTCATGCACCCAAAAAACAGTTACTGGTTTCCAGTTCAAGATAGTGAATAGGCAGTGTTCACCTTCCATCCCTTCGTCCCCAGTGTAATAGGAATTTAGCATGAAGGAGTGAAGGTGGAGGTGACTCTGGAAATGTAGGCGGGCCGGATCGTGAAGTCTTACATGCCACGCTGAAGAGTTTAGCTTTCATCCTCTAAGTTACAGAGAGCCACTAAAGTCTTTTAAGCAGAGGTCTGACATGGTAAGATTCATGTTTTAGAGCAATCTCTACGGCAGCAGTGTAGAATAAGAACTGAAATAGAACCCAAAAGAATACACTGCAAAACCTAACTCAGGCATTTTCTTTTAAATGAAAAAGTACAGCTTTTGGTTCAAGCAATAAAGGCTAACATGTGACTTCAGTGACCAGAAATGAGTAAAAGGCTTACTAATGTATAAGGCATGAAAGTCACAACAAACACTTTTTAAAAATCCATCACAATGTAAAGAACGTAAATGCCTGTGTATCCGCTACTAAAGATGTCCTCAAAGACACTTAACATGGTCTTTACTCTTTGCTGTTTACCAAATTATTTACTATTACAAGCTTCTATACATTATAAACATGAAATAGATGGGAAACTAACAAGGTCCCTTTCCTCTAAGACTGGGGTCCATAGCTAGGACCAAGGGTTCAGGGTAACTGATCCACCTGACTTCCCATGCAAAAATATGTGCTATATAATGTATAAGCATCTTGGGGGTGGGGAGGAGTGGCTTTTAATAGATTCTCAAAGGTCTATGACCTCATAAAGTCAAGAACCAGTTTAAGGAGTTTGGCGCCACACACACACACACACACACACACACACACACACGCAGATTACAAAAAGAAAGAGAATTATTTGCCCATGTGTTCAGGTAATTGAGCCTCACAAATCTGTCAGAACTCATATGGGATACTCTAGTGCTAATCTTTCTGAGACAAAAGGAAAACAGAAACTCTCTAAGGAAGCAGTACACAAGGCTGACTGCCCTACTTCTCCCTGAACTTTTCACACCTGCTGCTGGAGGACGTAGAGCATTCGGGCAGAGCGAGCAGCTTGCTCCTGTCTCCTGATACGGATTCGACGTTCTTCATCTGGATCCAAAGCTTCTTCTAGTCTATCTGAAAATATTAATAGTTTTCCCCAAAAGTGGATTATAAACCATATATTAAAACTTACAAAGACTTCAATTACTTACAGAAATAATAAAGTTGAAGATCTCTGGTTTTATTAAGAAAAAAATGAGGCTATCATAACAGAAAATTTCATTTTTCATCAGCCAAGAAACCAGCAGTAAGTGGAGCTGTGTACTGACTGAGAGATGGAAGGGACATAAAGACATTTACTCCATCAAGCTCCCCTCCAGCCAGAATTCCCACTGGACAGCGATTTCACTATGAGGCACCTCTTACTATTTTAGAATTCCTTATATTGAGCCAAAATCTGTTATTCTTGCTATTTTTTCAAAAACTTTTTATTGGCCTGTTTTTATGTTTAGCAAGATTAGTTTTACAATGTAAAGAAGGTATTAATAAATGCCTATTGATCAGCCACTAAATATGTCCTGAAAGACACTTAACATGGTCTTTAGTCTTTGCTGTTTAATAGAGAATAATCAAATGTTGAATTCAAAAGAGAAATCCTGGCCAGGAGTGGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGATGGGCGGATCACCTGAGGTCAGAATTTCAAGGCCAGCCCGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTACACTCCAGCCTGGGTGACAAAATGAGACTGTCTTAAAAAAGAGAAGAATTAAAAAAAAGAGAGAGAGACATTAAGATAGCATCTTATTGTAAACATTTTTTTCTTTTTCTTTCTGAGGCAGAGTCTCACACTGTCACCAGTCTCACACAGCAACCTCCACCTCCCGGGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTCCACACCACCACACTCAACTAATTTTTGTATCTTTAGTAGAGACAAGGTTTTGGCCTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATGCACCTGCCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCTTAATCTTGATTTCAAAAGACAAGTCTTTTCTCTAACATATTAAGATAGCAAGTCTCAAAATTATTTGAGTGTCTAGAGTCTTCATGTATTTCTCAGGAAGCATACCCTTGTACACACTGGTACTCTATATCTTGAAAAGATTGGTTCAAAGAAATTGTTTCTGGAAAACTGTTTGAAGAAGATGCAATCTATCTATTCCTTCCAGGCTGTGGTTTTCAAATACACTTATACAAACAAATTCTTATACGAAACTCCAATATACTCCAATTATCAAAGAAAAGGGAGTCTTCAATTAGTAAAAGTGTATTTTATAAGTTCAAATTTTTAATATTTACTCTTTAAAACATCAAACAATGCAAAGAGTATAAGGCTGTTTTGAAGAAAGCAAAAATCTGAAGTCAGGAGTTGTAGATACAGATGCAGTCTCAAGAGACCCTATATGTCTAATTACTTTCATCTCGTTTGGGCTGCATGGTAGGGGAAAATCCGGATTCACATACTTCTATGAACATAAATGGAACGGGCTTAGGTGGGGGGTTTGAAGGCTCACTGCAGATGATTCCCATGCAGCGCCTGCAGCTGTCTACAGAGCAGCACTGGGAAGCACAAATGGGCCTTCGGGGCTACTTCAAAGGGGGTCTGCAGCCAGGGGCCATCGCAAAATATTATTAATCCATGAAAGGTAAGTACAGAAATTTAAAGTATATGTTTACGTGTTTCCATAGCAGTTTGCCGCTACTGTGACATTTTTATTATAGTTCACAAAGTATTGACTTATGACACATTGAAAATTCATGTAAATAAAATAAACCAACCCAGTCCTTCCCCACAGAGACTTTGAAAGCTCTGTTCTAAC | AGCTTTAATTCACTAGGTAATGGCTTTGTCTTGTATTCTCCATAAATCCTAACGAAACTAGGTAATAGTAAGCATTACTTCCAATGCACCTCTAACAAAAATTGGAATTAATTCCATACCTCAATTTGTTGCAGAATATCTATAACCACATCAGGAACAGAAGGGTCTGCATCCAGCTTGACAGAACAAAGTGAAAGCTGGCGAATAAGGCTGCCCAGTTCCTTACACCGAGCAGGAAGTGGATGCTCCCCTCGGTCAGTAAACTGAGTGACAAACATCTGTAAGGCCCGAATGGCTCCTCGATGGGCAGCCGCCAGCTTAGACATTGCCCATGACTGGTAATAAACAAGATGAGAGAAGTTATTTCCATACTCAGAACTTGCTAACATTCACCCAACTTCTAAGAATATTTATAGCCTGTCTTCTTTCTGTATAAAGTGCTTTCTATTGTGAAAACTTTTTCATAGTAAAGGGAGTTGTAAAGTTTAAAGTTTTCTAGTGGCAGTCTTTTCCTTACTACTTCCAATTTTTTATACCAGCAGCAACAACAACAAAAATCTATTTTTTAGAACCTGTTCCTTAGAAGGCAACCATATTCAGAATATGTAAGGTGCTCACTCCCTCACTAACAGGTTTCTGCAAGTACTGAAAATAACATTAGTGCAGAGGGCCCTACACAATACTAACAAAACACTGGGAAATGTCATTTATAAGCAAGTATTGATCATAATTTAATTGCAGCATACCTTCTTAGTGTGTTTAATTTTATGTGGACTCAATTTATCCAATTCTTCCTGGATTTCTTTTACCTGTTTTGTAAAGGGGAAAAAAGAAAACTTCATACCTTTCCATTGATCTTTTTTGTAGAAAAGGATGCATCGATATATCTCCTCTTGTCCAAATATAACCATTATTAATTCAAGTCACTTGAAAATGAAAAAAAGGCTCTTCATTCATGCACCCAAAAAACAGTTACTGGTTTCCAGTTCAAGATAGTGAATAGGCAGTGTTCACCTTCCATCCCTTCGTCCCCAGTGTAATAGGAATTTAGCATGAAGGAGTGAAGGTGGAGGTGACTCTGGAAATGTAGGCGGGCCGGATCGTGAAGTCTTACATGCCACGCTGAAGAGTTTAGCTTTCATCCTCTAAGTTACAGAGAGCCACTAAAGTCTTTTAAGCAGAGGTCTGACATGGTAAGATTCATGTTTTAGAGCAATCTCTACGGCAGCAGTGTAGAATAAGAACTGAAATAGAACCCAAAAGAATACACTGCAAAACCTAACTCAGGCATTTTCTTTTAAATGAAAAAGTACAGCTTTTGGTTCAAGCAATAAAGGCTAACATGTGACTTCAGTGACCAGAAATGAGTAAAAGGCTTACTAATGTATAAGGCATGAAAGTCACAACAAACACTTTTTAAAAATCCATCACAATGTAAAGAACGTAAATGCCTGTGTATCCGCTACTAAAGATGTCCTCAAAGACACTTAACATGGTCTTTACTCTTTGCTGTTTACCAAATTATTTACTATTACAAGCTTCTATACATTATAAACATGAAATAGATGGGAAACTAACAAGGTCCCTTTCCTCTAAGACTGGGGTCCATAGCTAGGACCAAGGGTTCAGGGTAACTGATCCACCTGACTTCCCATGCAAAAATATGTGCTATATAATGTATAAGCATCTTGGGGGTGGGGAGGAGTGGCTTTTAATAGATTCTCAAAGGTCTATGACCTCATAAAGTCAAGAACCAGTTTAAGGAGTTTGGCGCCACACACACACACACACACACACACACACACACACGCAGATTACAAAAAGAAAGAGAATTATTTGCCCATGTGTTCAGGTAATTGAGCCTCACAAATCTGTCAGAACTCATATGGGATACTCTAGTGCTAATCTTTCTGAGACAAAAGGAAAACAGAAACTCTCTAAGGAAGCAGTACACAAGGCTGACTGCCCTACTTCTCCCTGAACTTTTCACACCTGCTGCTGGAGGACGTAGAGCATTCGGGCAGAGCGAGCAGCTTGCTCCTGTCTCCCGATACGGATTCGACGTTCTTCATCTGGATCCAAAGCTTCTTCTAGTCTATCTGAAAATATTAATAGTTTTCCCCAAAAGTGGATTATAAACCATATATTAAAACTTACAAAGACTTCAATTACTTACAGAAATAATAAAGTTGAAGATCTCTGGTTTTATTAAGAAAAAAATGAGGCTATCATAACAGAAAATTTCATTTTTCATCAGCCAAGAAACCAGCAGTAAGTGGAGCTGTGTACTGACTGAGAGATGGAAGGGACATAAAGACATTTACTCCATCAAGCTCCCCTCCAGCCAGAATTCCCACTGGACAGCGATTTCACTATGAGGCACCTCTTACTATTTTAGAATTCCTTATATTGAGCCAAAATCTGTTATTCTTGCTATTTTTTCAAAAACTTTTTATTGGCCTGTTTTTATGTTTAGCAAGATTAGTTTTACAATGTAAAGAAGGTATTAATAAATGCCTATTGATCAGCCACTAAATATGTCCTGAAAGACACTTAACATGGTCTTTAGTCTTTGCTGTTTAATAGAGAATAATCAAATGTTGAATTCAAAAGAGAAATCCTGGCCAGGAGTGGTGGCTCACCCCTATAATCCCAGCACTTTGGGAGGCTGAGATGGGCGGATCACCTGAGGTCAGAATTTCAAGGCCAGCCCGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCACCACTACACTCCAGCCTGGGTGACAAAATGAGACTGTCTTAAAAAAGAGAAGAATTAAAAAAAAGAGAGAGAGACATTAAGATAGCATCTTATTGTAAACATTTTTTTCTTTTTCTTTCTGAGGCAGAGTCTCACACTGTCACCAGTCTCACACAGCAACCTCCACCTCCCGGGTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTCCACACCACCACACTCAACTAATTTTTGTATCTTTAGTAGAGACAAGGTTTTGGCCTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATGCACCTGCCTCAGCCTCCAAAAGTGCTAGGATTACAGGTGTGAGCCACCATGCCCAGCCTTAATCTTGATTTCAAAAGACAAGTCTTTTCTCTAACATATTAAGATAGCAAGTCTCAAAATTATTTGAGTGTCTAGAGTCTTCATGTATTTCTCAGGAAGCATACCCTTGTACACACTGGTACTCTATATCTTGAAAAGATTGGTTCAAAGAAATTGTTTCTGGAAAACTGTTTGAAGAAGATGCAATCTATCTATTCCTTCCAGGCTGTGGTTTTCAAATACACTTATACAAACAAATTCTTATACGAAACTCCAATATACTCCAATTATCAAAGAAAAGGGAGTCTTCAATTAGTAAAAGTGTATTTTATAAGTTCAAATTTTTAATATTTACTCTTTAAAACATCAAACAATGCAAAGAGTATAAGGCTGTTTTGAAGAAAGCAAAAATCTGAAGTCAGGAGTTGTAGATACAGATGCAGTCTCAAGAGACCCTATATGTCTAATTACTTTCATCTCGTTTGGGCTGCATGGTAGGGGAAAATCCGGATTCACATACTTCTATGAACATAAATGGAACGGGCTTAGGTGGGGGGTTTGAAGGCTCACTGCAGATGATTCCCATGCAGCGCCTGCAGCTGTCTACAGAGCAGCACTGGGAAGCACAAATGGGCCTTCGGGGCTACTTCAAAGGGGGTCTGCAGCCAGGGGCCATCGCAAAATATTATTAATCCATGAAAGGTAAGTACAGAAATTTAAAGTATATGTTTACGTGTTTCCATAGCAGTTTGCCGCTACTGTGACATTTTTATTATAGTTCACAAAGTATTGACTTATGACACATTGAAAATTCATGTAAATAAAATAAACCAACCCAGTCCTTCCCCACAGAGACTTTGAAAGCTCTGTTCTAAC |
Task1_train_23330 | Gene SLC13A5 (solute carrier family 13 member 5), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 25 | ACAGGGGGCCAGTCGATTAAAACAGAACCAAGTGATGAAGGGCGTAGGTTGGCCTGTGGTGCACTGTGGGTGGCAAGCCAGGTGTCGTCCTGAAGTTGGCAACTCAGATTCCTCATCCTTTGGTGGTGGCCACAGGAGGAGTTCCCAGAGGCTTCAGGAGGCTCTGATTCCCACTCGCACTCCAGCAGTGGGAGGTTGCTCAAGACCAGGCATTCCGTCCCTGGCTGGGGTGTCCCTTCCAGAGTGACAGAGATGATCTGAGGCTGCTCAAGGTGAGCTGGAAGGGACATGGGCACTGGTAGGTGGTTGTCTTAGCTCTCAACCAGGGGATCCGATTCCCATTTAAACTATCTAGGACGAAGCGAGTGAAAACCAGAGCCCTGTGTGGGGGATGCTTGAGGCAGAGCGGGTACAGCAGCCTGCATCCTGATCCCTCGGCTACCTGGCCTCCCTCACAGAGATAATGGCAAGGCTTGGGAAAGATGGGTCCAGCAGCCCACTGAGGGGTTCCCTTCATTTCTGAGCCTACCCTCCAGCTGCCCATGACCATCTCTGCATCTGGGCTTGGAGGAAGAGGTGGCCCATTGGCTGGGTTTTGGTGGTGTGTGGACATCGTTGGGTCATTTTGGGGTGTGAACCCCAAAACTCTGTACAAGGTGTGCCAGAAGGTTCGGTAGTCCTGAGGAGGGTAAGGGCTGTGTGTGTGGTCTTGTGGCTCTTCCTAAGTCTCAATATGTGTCACATTAGCCCAGTCAGGGAAATGATCCAAGTCAAATATGGCCCGTCCCCAGGTGTTGACAGCCAAAAACACACAGAAGACTCCAATTATGTTCATTATGACTCCTGTTTTCACCTGGAAAAGAGACAGAGTCAGCACCCTGAGGCCTGCTGGGGACTAGTGCTCTCAGAGAGGAGGACAAAGGGTCGGCTCACTGGGCCTCGATGTCCCTGTGCCATGCTCTGTCCCTGGCTGGGGTGTCCCGACCCCCAGGACAGTGCGACTTCATGTCCCCCAGGTATCCTCAGTGCTCAAGGCATCCCTGGGAAGTAGGCAGAGTGGATGGGTTCTCTATGCCCGTGCGCATTTGGAAAATGACCTCAGAGAAGTGACAGGAGGCAACAGCTTAGGCCATTCAGGGAAACGGTCACAGAGCCCAGTGTTCCGTGAGTCCAGGTTCATTGCTCACCCCAGTGCCTTAACTATCCTACAAGGACGTGCCAGCTTCCCTGTGGACCTCCTCAGGCTCTTTCTGATGCCTGCTCTGCAAGCTTCCCTCATGGTCACTAACCATCGCTTCACTACCCTGTTGTAGATATTTTACTGGGGATTGGAGTCAAGTTTGCAGTCCATGGTTTCTGGGACCCACCTTTTTTTTTGAAAATGCTCATGGAGTCCCTGAGATACCCAGCAGAGGCTCTGAGATAACGAACACCCGATTGGTCCCAGGTACATTTCTGGCCTCTTGGGCTCAAACACTTGCCTCTTTCCCAGCCCAGAGCTGCAAAGCTGCCCTTCTCCCAGCAAAGGTGACAGAGCTAATGAAGAGTTCTTCCTCTGACTACATTTGTTTCCAAGGCATCATCTACTCCCAGGCAGTGCTCTCTCTCTCCCTCTCCCTGCTTCTACCTCTTCAGGCACCCCTACAAATCTCTGTGACTGTCATTAGCATCCCCCTGCTGCCTAAGCCTGCCCTGCCTATCTTCATGGTTCTTGCTAATTTGTCAAGTTCATCCTTGGCCATATGAGTCCCTCAGCCCCACCTTCACCCCTTCCAAGGACTCCCCTGGTGCCTGCACAGGCTTCTCCAGGTGGGAGAGTCTATAACCCACCTCAGAGAAAGAACAGTGTGTGAGGCTTGAGATCATCTCAGAAAAAGAAGAAAAGCTGCATTATAAATGTCAACAATGGCTACAGGTCTGGATGTTCCGTGGCATTCCCAAGTCACATGACATCGTTTTGAAACTCTGTCATTCATAAATGGGGCATCCCTTATGACAACAGCGTTATAGTCCGACGGGAGTAAATAAAAACAGCTGTGTTACCATGTCAGCAACCTTGAGGTGCCCATAGGTGAACACGATGGCATTTGGAGGGGTGGCCACAGGCAACATGAAGGCAAAGGAGGCACTCAGGGTACAGGGCAGCATGATGTACAGCGGATTGAGGCCGATGGAGCGAGACTGCGGAAAAACAGCACTGCAACATCACCGTACAGAACACAGAAGCTCTTGGGGACGTGATTCTGAAAAGGATTCTCTGAATGTGCCGGGTACGTTTGAACCTCTGTGCCTCAGTCTTGGTTCCTCTCCCTTTTGCCACGTCTCTGGCAGATAATTCCACCTACGGAACACTGAAGGCTGAGGTCAGAGGCCACCTGCCCTAGAAGGCCTTACCCCCTCAATTCATTCGACATGTATTTCTTGGGCACCTACTATGTGCCAGAGACCATGCTGAGTACTTAGACTGTGCTCAACCTTACAGTGCCGCGTGCACATGTCTGTCTGTCTTGCCACAGACTGAGAGAGCCTAGAGGCCAGGGACCACATCTTCTCTCCCGCATATAAATCTGTGGATGTGTGTGTTTTTATACATGCGTGGGGTCATTTTGCACATGGAATTTGGTAGCCACCTTTTAAATTCTACACTTTAAAATTTAGCCACATCCAACAGCACCTATCAGAGAGTAGGCACTCATTAAATATTTGCTGAGTGTATGAATGAATGATGTAATTCCTAAAATCTATCAAATCAATCATGTATCATGCACATGAGGGCAGACACATGCAAACATGTTTGTTGCAACCATGTAACGGCAAAACACAGGAAGCCAACTCAATGGTCACTAATAGCAGGATGGTTAAATAAAATATGACACATACAAATAATGGAATAGTATGCAGCTGTAAAGAATTGGATTTTTTTTTCTTTTTGTGCTAATCAGGAAAGCTCTCCAAGATAACCAAGGCTTCATGGTTAGATTTTTTAAAAATTAAGATGAATGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCAAGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAGTGTGTGAGTGTGTAAAATATCCAGAAAAATATTTGAGAAATTAACAGAGGTCATCTCTAGGGAGGAGGCTAGAGGATTAAGGTCTGTATACATCTTTGCATTATTAGACATTTTTAGCCATATACCATCTGCAATTTTAAAAAACTATACTATGAGCATGTTCCCATTTTATTACTCTTTGAAACTGTGATTTTTAATGGCCTGATAATGTCATATTATATGAATATATGATAATTTATTTCAGCAAACCCCCTGTTACTATGGATATATTTGTATAATAATTCTGTCATACATCATCATCACATATGTTGGTAGGCATCTCTGATTATTTTCCTAAGATATATTCCCAGACATGAAATTGCTGAGTCAAGGGGTCTGAGCAGGTTTAATGTTACGGTTCCTGTTGGTAAACAGCCCTCTGAAAGGACTGCGCAAGTCCCACGCCCCCTGGGAACCACTGAGGGGTCCCACGCAGGGGCCCAGCTCTTCGCTGGCGCGTCTCCCCGACCATCCTCGTTTTCCTGGCTGTGGGTACCTCATGGTGTCTGCACCTCACACTCCTCTGCAGCCCAGCTCAATGACCATCACCTTTTCCTTTCTCATAGGTGGGCGTGAGACAGGAGTGTGATGGGCCTTAGAGGTAGCTGGGGGAGTTTTTACTTGAGGTTCCTGGTTCTAGAAAAGCCCGTTTTCAAAGAGCCCGTTAGGGCCTGCATTTGCCTGGTTGGAACCCTCGGTGCTCCCAGTTAGGGCTGGAGATGACAAAGCCACGGCCTGTGCTAGGAGAGAGGAGGCATCACCAC | ACAGGGGGCCAGTCGATTAAAACAGAACCAAGTGATGAAGGGCGTAGGTTGGCCTGTGGTGCACTGTGGGTGGCAAGCCAGGTGTCGTCCTGAAGTTGGCAACTCAGATTCCTCATCCTTTGGTGGTGGCCACAGGAGGAGTTCCCAGAGGCTTCAGGAGGCTCTGATTCCCACTCGCACTCCAGCAGTGGGAGGTTGCTCAAGACCAGGCATTCCGTCCCTGGCTGGGGTGTCCCTTCCAGAGTGACAGAGATGATCTGAGGCTGCTCAAGGTGAGCTGGAAGGGACATGGGCACTGGTAGGTGGTTGTCTTAGCTCTCAACCAGGGGATCCGATTCCCATTTAAACTATCTAGGACGAAGCGAGTGAAAACCAGAGCCCTGTGTGGGGGATGCTTGAGGCAGAGCGGGTACAGCAGCCTGCATCCTGATCCCTCGGCTACCTGGCCTCCCTCACAGAGATAATGGCAAGGCTTGGGAAAGATGGGTCCAGCAGCCCACTGAGGGGTTCCCTTCATTTCTGAGCCTACCCTCCAGCTGCCCATGACCATCTCTGCATCTGGGCTTGGAGGAAGAGGTGGCCCATTGGCTGGGTTTTGGTGGTGTGTGGACATCGTTGGGTCATTTTGGGGTGTGAACCCCAAAACTCTGTACAAGGTGTGCCAGAAGGTTCGGTAGTCCTGAGGAGGGTAAGGGCTGTGTGTGTGGTCTTGTGGCTCTTCCTAAGTCTCAATATGTGTCACATTAGCCCAGTCAGGGAAATGATCCAAGTCAAATATGGCCCGTCCCCAGGTGTTGACAGCCAAAAACACACAGAAGACTCCAATTATGTTCATTATGACTCCTGTTTTCACCTGGAAAAGAGACAGAGTCAGCACCCTGAGGCCTGCTGGGGACTAGTGCTCTCAGAGAGGAGGACAAAGGGTCGGCTCACTGGGCCTCGATGTCCCTGTGCCATGCTCTGTCCCTGGCTGGGGTGTCCCGACCCCCAGGACAGTGCGACTTCATGTCCCCCAGGTATCCTCAGTGCTCAAGGCATCCCTGGGAAGTAGGCAGAGTGGATGGGTTCTCTATGCCCGTGCGCATTTGGAAAATGACCTCAGAGAAGTGACAGGAGGCAACAGCTTAGGCCATTCAGGGAAACGGTCACAGAGCCCAGTGTTCCGTGAGTCCAGGTTCATTGCTCACCCCAGTGCCTTAACTATCCTACAAGGACGTGCCAGCTTCCCTGTGGACCTCCTCAGGCTCTTTCTGATGCCTGCTCTGCAAGCTTCCCTCATGGTCACTAACCATCGCTTCACTACCCTGTTGTAGATATTTTACTGGGGATTGGAGTCAAGTTTGCAGTCCATGGTTTCTGGGACCCACCTTTTTTTTTGAAAATGCTCATGGAGTCCCTGAGATACCCAGCAGAGGCTCTGAGATAACGAACACCCGATTGGTCCCAGGTACATTTCTGGCCTCTTGGGCTCAAACACTTGCCTCTTTCCCAGCCCAGAGCTGCAAAGCTGCCCTTCTCCCAGCAAAGGTGACAGAGCTAATGAAGAGTTCTTCCTCTGACTACATTTGTTTCCAAGGCATCATCTACTCCCAGGCAGTGCTCTCTCTCTCCCTCTCCCTGCTTCTACCTCTTCAGGCACCCCTACAAATCTCTGTGACTGTCATTAGCATCCCCCTGCTGCCTAAGCCTGCCCTGCCTATCTTCATGGTTCTTGCTAATTTGTCAAGTTCATCCTTGGCCATATGAGTCCCTCAGCCCCACCTTCACCCCTTCCAAGGACTCCCCTGGTGCCTGCACAGGCTTCTCCAGGTGGGAGAGTCTATAACCCACCTCAGAGAAAGAACAGTGTGTGAGGCTTGAGATCATCTCAGAAAAAGAAGAAAAGCTGCATTATAAATGTCAACAATGGCTACAGGTCTGGATGTTCCGTGGCATTCCCAAGTCACATGACATCGTTTTGAAACTCTGTCATTCATAAATGGGGCATCCCTTATGACAACAGCGTTATAGTCCGACGGGAGTAAATAAAAACAGCTGTGTTACCATGTGAGCAACCTTGAGGTGCCCATAGGTGAACACGATGGCATTTGGAGGGGTGGCCACAGGCAACATGAAGGCAAAGGAGGCACTCAGGGTACAGGGCAGCATGATGTACAGCGGATTGAGGCCGATGGAGCGAGACTGCGGAAAAACAGCACTGCAACATCACCGTACAGAACACAGAAGCTCTTGGGGACGTGATTCTGAAAAGGATTCTCTGAATGTGCCGGGTACGTTTGAACCTCTGTGCCTCAGTCTTGGTTCCTCTCCCTTTTGCCACGTCTCTGGCAGATAATTCCACCTACGGAACACTGAAGGCTGAGGTCAGAGGCCACCTGCCCTAGAAGGCCTTACCCCCTCAATTCATTCGACATGTATTTCTTGGGCACCTACTATGTGCCAGAGACCATGCTGAGTACTTAGACTGTGCTCAACCTTACAGTGCCGCGTGCACATGTCTGTCTGTCTTGCCACAGACTGAGAGAGCCTAGAGGCCAGGGACCACATCTTCTCTCCCGCATATAAATCTGTGGATGTGTGTGTTTTTATACATGCGTGGGGTCATTTTGCACATGGAATTTGGTAGCCACCTTTTAAATTCTACACTTTAAAATTTAGCCACATCCAACAGCACCTATCAGAGAGTAGGCACTCATTAAATATTTGCTGAGTGTATGAATGAATGATGTAATTCCTAAAATCTATCAAATCAATCATGTATCATGCACATGAGGGCAGACACATGCAAACATGTTTGTTGCAACCATGTAACGGCAAAACACAGGAAGCCAACTCAATGGTCACTAATAGCAGGATGGTTAAATAAAATATGACACATACAAATAATGGAATAGTATGCAGCTGTAAAGAATTGGATTTTTTTTTCTTTTTGTGCTAATCAGGAAAGCTCTCCAAGATAACCAAGGCTTCATGGTTAGATTTTTTAAAAATTAAGATGAATGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCAAGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAGTGTGTGAGTGTGTAAAATATCCAGAAAAATATTTGAGAAATTAACAGAGGTCATCTCTAGGGAGGAGGCTAGAGGATTAAGGTCTGTATACATCTTTGCATTATTAGACATTTTTAGCCATATACCATCTGCAATTTTAAAAAACTATACTATGAGCATGTTCCCATTTTATTACTCTTTGAAACTGTGATTTTTAATGGCCTGATAATGTCATATTATATGAATATATGATAATTTATTTCAGCAAACCCCCTGTTACTATGGATATATTTGTATAATAATTCTGTCATACATCATCATCACATATGTTGGTAGGCATCTCTGATTATTTTCCTAAGATATATTCCCAGACATGAAATTGCTGAGTCAAGGGGTCTGAGCAGGTTTAATGTTACGGTTCCTGTTGGTAAACAGCCCTCTGAAAGGACTGCGCAAGTCCCACGCCCCCTGGGAACCACTGAGGGGTCCCACGCAGGGGCCCAGCTCTTCGCTGGCGCGTCTCCCCGACCATCCTCGTTTTCCTGGCTGTGGGTACCTCATGGTGTCTGCACCTCACACTCCTCTGCAGCCCAGCTCAATGACCATCACCTTTTCCTTTCTCATAGGTGGGCGTGAGACAGGAGTGTGATGGGCCTTAGAGGTAGCTGGGGGAGTTTTTACTTGAGGTTCCTGGTTCTAGAAAAGCCCGTTTTCAAAGAGCCCGTTAGGGCCTGCATTTGCCTGGTTGGAACCCTCGGTGCTCCCAGTTAGGGCTGGAGATGACAAAGCCACGGCCTGTGCTAGGAGAGAGGAGGCATCACCAC |
Task1_train_23331 | A genomic change on Chromosome 17 affects DLG4 (discs large MAGUK scaffold protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual developmental disorder 62 | TAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGAGGGAGGGAGAGCAGGCCTGAGACTGGACCCACCTGACCCTGCCTTTTATCTCCTCTATCCAGGAATGTTAAGTATTCTTCTATTTGGAGCACATAGCAAAAAAAAAAATACAATTCCCAATATCCTCTGGGGCCACAGATGAGAACCACCCCCCACCCCCCTGCCACCCGCAACCGCCCCAGCCAGGTGTGGCTACTCCAGGGACATCTACGGAGCTTCATCCTTCCAGCCTTCAGCCCCAGAGATGGGATTCGGACTCCAATTCCCAACAGCCCTAGAGGCCCTGACTCGCCCCAGCTGGTATGCCCCAGGGGCTGCTGGGAAATGTAGTCCTGTCTAGCCAAGGCAGGAGAGGAGGGGAAAGACCCGATTCCCCCACATCCTCTGGGTTCCAGGGATCCCCCTCAGGGGCTGCTGAAACCGCTGTCCAGGGTTCTGAAGGGAGAGTTGAACGCAGACGCCTTGTGAGGCCCAGGGCCACAGGTGTTGGGGGAGCAAAGGGGAGGCCCCCAGGACCATACTCACAGCACATTCTCCAGGGAGCGGGGGCGGATGAAGATGGCGATGGGGTGCAGGTGGGCCGCCTGCAGCCGCCGCACGGCATTGGCCGAGACATCGAGGATGCAGTGCTTCCCCTGGGGGCAGGCAGGGTGGGCGGAGGGGGGCCAGCGGGTGGCGAGAAAGGACAGAGAGCAGTGCCGGAGGGACACGGACGGGGAGAGGTGGGGAATGGGAAGTTGGCCGAAGGGGAGTGACATGGATGTCAAGAAACACGGGGGCAGAGAGTCAGGCAGGAAGCGGGTATGGACAGAGTAAAAGACAGAGGGAAAGGAAAGGGAAGATGGAGAGCACGGGAGAGGGCAGGGACAGGACAGAATGGAGGAAGGGAGGAGCACCAGGCAGGCAGGGACCCAAGAGATGGTGGCAGAGCCGGGGCAGCAGCGAGTGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAGGAAAAAGGGAGGGACCCAGTGGGGAAGGCCAAGCCACCAAAGACAAGGCCATGGGAAGAGAGGAGAAATGGGGCAAGGAGAAGGGAGTGGGGAGAGAAAGAGGCCAGATGGTGGTGGGGAATTTGGGGTCAGGAAGTGAGGGAGGTGGGAGAGAGAGCAGGGGCAGAGAGCAGGCAGTCAGACAGAGTTGCCCAAGAGGAGAAGGAGGTGGAGGAGCGGAGTGGAGACCCAGCAGGGAAAGAGACAGAGAGAGAGAGAGTTAGAGAAAGCTGGAGGGAGGCAGTGGGGTGGGGAGAGGGGAGAAGGAAGAGGACCGGGTGCCCGCCAGGTCCTACCTGCTCTGCCACCTCTCGCACGGACTGGACGCTGGTCCCATAGAGGTGGCTGTTGTACTGGCCGGCCTCAATGAACTTGTGCGCCTGAATGTCCTTCTCCATTTTCTCCCGGGACGACACAAAGTGGTAATCCCGGCCATCTATCTCATACTCCCGCTTGGGCCGTGTCGTATCTGCCAGGAAGTCACCCCACCCCCCAAAGATCTAACCACCATCCCTCTAGCTTAAATCCTGCCTACTTCAATCAAATCCCCATAGTGCCCAGCTGGTCCTTTGGTGAAAGGGAGCTGCCAGGGAGACCAAGACTGCAGAGGGCCAGAACCGCTTCCCCTAGCACCCTCCAGGGCCTCCAAGTCTCTGGCCTGGGCATGGGTACTATGGAATGAGAGGGTGGCTGAGAAGCACCCCTTCTCGGAGAAACCCTGTATCTCCCTACACACCGATCCCCCAGGAGGCTCTGCCTATGGCCCCAGGGATGGGCCTCCCCTGCCCCACCCCCACTTCCACCTTCTCCTCCATCCAAGGCCCCAGCACTCACGGGGAACACAGGATCCAAACTTGTCGGGGAACTCGGAGAGAAGATCATCGTTGGCGCGGTCCTTGGTGGGCCCAAGGATGATGATGGGGCGAGCATAGTGCACTGCAGAGAGAGCCTGGCTTAGGCCGAGCGCAGGGTTGGGGGAGCAGCAAGTGCTGGGGCCAAGGCAGGGGCCAGGGCTCACCTTCCATCTGCGTCACTGTCTCGTAGCTCAGAACCGAGTCTTCTCGACCTGGTGGGAGGTGGGGCATCTGCAAGGGGCTCTGAAACAGGGGACCTGGAGCCCTGTCTCCCCCTTGAGGATATCAAAAGCAACTCAGTGCTCCTCTCACCCACATCTTCCCGAACTAACCCTACCTACCCTGCGATCCAGAGCTGGAGCCCCAGTCCTAAGAAGAAAAAGCAGGCCACGGGGTTAGTTATGAGCTCAGCTCCATGAGCCCTCACACTTCCACCCAGGCTCACACCCTCCTCCACCTACCTTGGCCTTTAACCTTGACCACTCTCGTCGCTCAACCCTGTGGGATACATGGAGGGATACGCGGGTAGGGGAATGCCTACCCCCTGCCACCCCCATGCTCTGAGCCAGCTGACAACCCCTTCTCCATACTCTGGGCCAGCTGACACCCCTTCTCCTGCAGCCCTGGACACTGTGCTCCTCAATAAGGAGTTGTCCTTCCCAAAGGCTCATGGGAGCCACGGACCCCAGGAGGGCCCAACAGACAAACCCCTAGGAGTTCAGAGGGCAAACCCATCCCCTGTTGGCTGCCCACCCCGGGGGACCTTGGGAACTTCAGTGCCTGTGGCAGGAAGGCTACAGAGCCCAGGAGCCTCACCGCCGTTTGCTGGGGATGAACCCAATGTCGTCGGTCTCACTGTCAGAGTGGACCCGCCGTGCCTGCCACCACTCCTCATCACTAGCATCGATGACATGCAGCACATCCCCAAAGCGGAAGCTCAGGGCCTGGCTCAGGAAGCCGCAGTCCTTGGTCTTGTCGTAATCAAACAGGGCCCTGGAGGGCAAGTGGCTATCGGTCAGAGCCCAGCTGAGGACTCCAGGAAGGATGCCCCAGTCACCCAAAGACCCGGCCCAGAGGTCTGCAGATGGCACTCCCATGGGAGCTATGGATGCCGAGGAACCCAAAACTGTGTGGGGACCAAACGCTGACTATAACTCATAACAACTATTAGCCATCACTCAGTCCACACTGAGCACAGTTTCCAGAGGCAGGGCTTGAACTTGACCCTCTCAAGAAAGCAGTTTGGGCCAGGCGTGGTGGCTCCCACCTGGAATCCCAGCTGACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAATATTAGCCGGGCACGGTGGCGGGTGCCTGTATTCCCAGCTTCTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACACCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAACAGAAAGCAGTGTGCAGTACACACGCACATCATAAAGTCACAGGGGTAAC | TAGCGCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTACCGAGTAGCTGGGATTACAGGTGCCCGCCAGTGCTGGGATTACAGGCGTGAGCCACCATGCCGCGCCCACAGGGGCACCTCTTTCTAAGCCATCCACTGGGGGTGGCGGGGGAGCTCTTTCTAATCCGAGCAAGGGCACCCTACATGCTGGCAACAGCCTTGCTGTGGCCTCACCTGAGAAGCACTCTGTGAACTCCTGCTCCAGCTTGGTGGCTCTGTCGAAGGCTTTGCGGGCTTGCTCCTCTGTGATCCGCTTGTTAATCTCTCTGTGAAGAGGGAGGGAGAGCAGGCCTGAGACTGGACCCACCTGACCCTGCCTTTTATCTCCTCTATCCAGGAATGTTAAGTATTCTTCTATTTGGAGCACATAGCAAAAAAAAAAATACAATTCCCAATATCCTCTGGGGCCACAGATGAGAACCACCCCCCACCCCCCTGCCACCCGCAACCGCCCCAGCCAGGTGTGGCTACTCCAGGGACATCTACGGAGCTTCATCCTTCCAGCCTTCAGCCCCAGAGATGGGATTCGGACTCCAATTCCCAACAGCCCTAGAGGCCCTGACTCGCCCCAGCTGGTATGCCCCAGGGGCTGCTGGGAAATGTAGTCCTGTCTAGCCAAGGCAGGAGAGGAGGGGAAAGACCCGATTCCCCCACATCCTCTGGGTTCCAGGGATCCCCCTCAGGGGCTGCTGAAACCGCTGTCCAGGGTTCTGAAGGGAGAGTTGAACGCAGACGCCTTGTGAGGCCCAGGGCCACAGGTGTTGGGGGAGCAAAGGGGAGGCCCCCAGGACCATACTCACAGCACATTCTCCAGGGAGCGGGGGCGGATGAAGATGGCGATGGGGTGCAGGTGGGCCGCCTGCAGCCGCCGCACGGCATTGGCCGAGACATCGAGGATGCAGTGCTTCCCCTGGGGGCAGGCAGGGTGGGCGGAGGGGGGCCAGCGGGTGGCGAGAAAGGACAGAGAGCAGTGCCGGAGGGACACGGACGGGGAGAGGTGGGGAATGGGAAGTTGGCCGAAGGGGAGTGACATGGATGTCAAGAAACACGGGGGCAGAGAGTCAGGCAGGAAGCGGGTATGGACAGAGTAAAAGACAGAGGGAAAGGAAAGGGAAGATGGAGAGCACGGGAGAGGGCAGGGACAGGACAGAATGGAGGAAGGGAGGAGCACCAGGCAGGCAGGGACCCAAGAGATGGTGGCAGAGCCGGGGCAGCAGCGAGTGGGGCGGGGTGTGCAAGGCAGAGGTGACACAGGCGGGAAGGAAAGCCAAGAAAAAGGAGAAAGGAAGTAGGATAGAGGGAGGAGGGAGGGGAGGACGGACAGAGGACAGACAGATGGAAGGAACAAGGAGACAGATGGGAGGGAGTGAGGCAGATGGAGAAAGGAACCGTGGAGGGAGGGAGGGAGGGCAGGGTGAGGAGCAGCGGGGAAAGGAAAGGAGTTAGCAGAGGAGTGGGAGAGGGGAGCCGGGCCCCAGAAAAGGGTGAGGCAGGGGAGAGGGCCAGCGGGGAGTCAGGAAAAAGGGAGGGACCCAGTGGGGAAGGCCAAGCCACCAAAGACAAGGCCATGGGAAGAGAGGAGAAATGGGGCAAGGAGAAGGGAGTGGGGAGAGAAAGAGGCCAGATGGTGGTGGGGAATTTGGGGTCAGGAAGTGAGGGAGGTGGGAGAGAGAGCAGGGGCAGAGAGCAGGCAGTCAGACAGAGTTGCCCAAGAGGAGAAGGAGGTGGAGGAGCGGAGTGGAGACCCAGCAGGGAAAGAGACAGAGAGAGAGAGAGTTAGAGAAAGCTGGAGGGAGGCAGTGGGGTGGGGAGAGGGGAGAAGGAAGAGGACCGGGTGCCCGCCAGGTCCTACCTGCTCTGCCACCTCTCGCACGGACTGGACGCTGGTCCCATAGAGGTGGCTGTTGTACTGGCCGGCCTCAATGAACTTGTGCGCCTGAATGTCCTTCTCCATTTTCTCCTGGGACGACACAAAGTGGTAATCCCGGCCATCTATCTCATACTCCCGCTTGGGCCGTGTCGTATCTGCCAGGAAGTCACCCCACCCCCCAAAGATCTAACCACCATCCCTCTAGCTTAAATCCTGCCTACTTCAATCAAATCCCCATAGTGCCCAGCTGGTCCTTTGGTGAAAGGGAGCTGCCAGGGAGACCAAGACTGCAGAGGGCCAGAACCGCTTCCCCTAGCACCCTCCAGGGCCTCCAAGTCTCTGGCCTGGGCATGGGTACTATGGAATGAGAGGGTGGCTGAGAAGCACCCCTTCTCGGAGAAACCCTGTATCTCCCTACACACCGATCCCCCAGGAGGCTCTGCCTATGGCCCCAGGGATGGGCCTCCCCTGCCCCACCCCCACTTCCACCTTCTCCTCCATCCAAGGCCCCAGCACTCACGGGGAACACAGGATCCAAACTTGTCGGGGAACTCGGAGAGAAGATCATCGTTGGCGCGGTCCTTGGTGGGCCCAAGGATGATGATGGGGCGAGCATAGTGCACTGCAGAGAGAGCCTGGCTTAGGCCGAGCGCAGGGTTGGGGGAGCAGCAAGTGCTGGGGCCAAGGCAGGGGCCAGGGCTCACCTTCCATCTGCGTCACTGTCTCGTAGCTCAGAACCGAGTCTTCTCGACCTGGTGGGAGGTGGGGCATCTGCAAGGGGCTCTGAAACAGGGGACCTGGAGCCCTGTCTCCCCCTTGAGGATATCAAAAGCAACTCAGTGCTCCTCTCACCCACATCTTCCCGAACTAACCCTACCTACCCTGCGATCCAGAGCTGGAGCCCCAGTCCTAAGAAGAAAAAGCAGGCCACGGGGTTAGTTATGAGCTCAGCTCCATGAGCCCTCACACTTCCACCCAGGCTCACACCCTCCTCCACCTACCTTGGCCTTTAACCTTGACCACTCTCGTCGCTCAACCCTGTGGGATACATGGAGGGATACGCGGGTAGGGGAATGCCTACCCCCTGCCACCCCCATGCTCTGAGCCAGCTGACAACCCCTTCTCCATACTCTGGGCCAGCTGACACCCCTTCTCCTGCAGCCCTGGACACTGTGCTCCTCAATAAGGAGTTGTCCTTCCCAAAGGCTCATGGGAGCCACGGACCCCAGGAGGGCCCAACAGACAAACCCCTAGGAGTTCAGAGGGCAAACCCATCCCCTGTTGGCTGCCCACCCCGGGGGACCTTGGGAACTTCAGTGCCTGTGGCAGGAAGGCTACAGAGCCCAGGAGCCTCACCGCCGTTTGCTGGGGATGAACCCAATGTCGTCGGTCTCACTGTCAGAGTGGACCCGCCGTGCCTGCCACCACTCCTCATCACTAGCATCGATGACATGCAGCACATCCCCAAAGCGGAAGCTCAGGGCCTGGCTCAGGAAGCCGCAGTCCTTGGTCTTGTCGTAATCAAACAGGGCCCTGGAGGGCAAGTGGCTATCGGTCAGAGCCCAGCTGAGGACTCCAGGAAGGATGCCCCAGTCACCCAAAGACCCGGCCCAGAGGTCTGCAGATGGCACTCCCATGGGAGCTATGGATGCCGAGGAACCCAAAACTGTGTGGGGACCAAACGCTGACTATAACTCATAACAACTATTAGCCATCACTCAGTCCACACTGAGCACAGTTTCCAGAGGCAGGGCTTGAACTTGACCCTCTCAAGAAAGCAGTTTGGGCCAGGCGTGGTGGCTCCCACCTGGAATCCCAGCTGACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATGGTGAAACCCCGTCTCTACTAAAAATACAAAATATTAGCCGGGCACGGTGGCGGGTGCCTGTATTCCCAGCTTCTCGGGAGGCTGAGGCAGGAAAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACACCGTCTCAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAACAGAAAGCAGTGTGCAGTACACACGCACATCATAAAGTCACAGGGGTAAC |
Task1_train_23332 | Here is a variant affecting ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTG | GGCCGTCTCTGAGCCGACCAGCTGTCCCATTCCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCTTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTG |
Task1_train_23333 | Consider this mutation in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCC | CCCCCAGGTCCCAAGGCACCAGCACCGCCACCATCTTGCTCCACACACCCTGGCCCCCTCTTCCCATAGGCAGGCAGAACCTAGCCACGCTCTCCTGAGAAGCCAGCAAAGAGGGCCTCCTCACAGAGGGCTCCAGCAGCTCAAAAAGAAGCTGAGCCCAGCTCTCTCTCCTCCTGGGCCTCCTCTCACCCCAATGAGAATTGCAGAAAAAGGGGTAGAAATTGTTTGGGACTTCCTGCCCTAGGGCTAGAGAAGTTGGGGTTTTACGGGTAAGAGGCAGGAGAATTCCTGCAGTTCCTCTCAGGCCCGGGAGGAATCCATCTGCCTGGGCACATGGTCTCTGGAAGGAACAGAGGGCAAAGACAGAAGGGAATGTTCAGGAAGGTCTCAGAGGCTTTACTAAGGGAGGGGCAGTGAATCTGGGGGGGTCTTCCTACTGTGAAACTGTAGCTGTTCCAAGAGTTAGTGAATGGCCTACATCTCAGAAGAATACACTTAGGGTACTCACACCCTAGCTTGGGTGCCCCCCACCACTGTACCCTCCCTTTTGTGTTGGCCGAGATAGATTTCATCAGGAACCCTAGAGTCTGTCTTTCCATGTCTCTGCCTCTGCCATCTACCTTACACTTCTCTTTCCCTACTTTTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGGGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCC |
Task1_train_23334 | This alteration in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGC | TTCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAACACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGC |
Task1_train_23335 | A variant was discovered in gene ACADVL (acyl-CoA dehydrogenase very long chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCC | TCCCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATGCCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCC |
Task1_train_23336 | An alteration has been detected in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCAT | CCTTCTAACCCCACCGGAGAAGCCCTCCCTTCAGTCCACCTCCATCCCTCTGGCTGCAGTGACTTAAGCCCCTTCCTCTTCTGTCCCATCCTATCCCATCACCCCGTCGGAGGACTAGACTCTAGGTCGGACGGGCGGGATTAAGGAGTTTGGGGGAGACGAGGGACGCTTGGAGATCCCTCTAAGTCAGCGGAACGCAGGGCCGGGCTCCAGGGAACTACAGCTCCCAGCATGCCCCGGGGCCCGCAACCGTCCGCCGCCCGGTGCACTGTGGACGATGAGTCAGGGTTAGGGGCGCCAGGACGTGGGCGTGCAGGACGCCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACGTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCAT |
Task1_train_23337 | With a mutation on Chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATG | CCAGAGCTGGGTCAGAGCTCGAGCCAGCGGCGCCCGGAGAGATTCGGAGATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGAAGGTCTGTGTGTGACAAGAGGGACGGTGGGCAGCGGCCCTGGGCACCGGGCCGGCACTGAACCCCCACTCCCCACAGCTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGACCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATG |
Task1_train_23338 | A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGG | GCCCCGGCCCGGCCCTGCCCGGCGGCCCTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACACCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGG |
Task1_train_23339 | This variant lies on Chromosome 17 and affects the gene ACADVL (acyl-CoA dehydrogenase very long chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGG | CTATGCCGGGGGTGCCGCTCAGGTAAGTCACCGCAGCCTTGGCAAGGGGGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGGTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGG |
Task1_train_23340 | A variant has been detected on Chromosome 17 in ACADVL (acyl-CoA dehydrogenase very long chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCA | GGTGTGGGAGCGGCGGTCCGCTTCGGCGCCCGCCATCGGCAGGGATCTCCCTCTTGGTGCCAGGTACCTGCCTACTGCTCAGTCGCCGAAAGTAGGGGAAAGGGCAAGCCAGGGTGCCCTAGGGCGAAACTAGGGGAAAGGTCACCGCTTCGCGCCGCCTCCCCGCGCGGCTCTCGCCTGTTCTCCCCTTGACACAGCGGAAGTCCCTTCCCTGAACTTGCTAACCGTCTCTTTTCCCAGCTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTGACCAGGAAAAAACCGGCCAAGGCGGTAGGTAGCCCCGAGGCCAGGTGGACCTTAGCCAGACCCAACCAGAGCCCTGAAATTTGCCTCTCTCTGCCCAGGAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGCCAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCGGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCAGTGCTCAACGAAGAGCAGACACAGTTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGACTCGGGGCTTGGTCCCTGGTGAGGTGTTTGGAGATGTTAAGCTCAAAAGGAGCCTGGATGTGGGATCCTGTGCCTTCCCCAGGAAGTGAACGATCCCGCCAAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGGGCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAGGTGAGGGCGCCCTATCGCCACATCCCAGTATGCCATACCCCAGCTTGGCAGACTCAGCTCTTTTGCCATAGACCTAGAGACTAGGGCTAAGGTCTCTTCTAAGCACCTGCCCTGGGTGCCTGTGGGATGGATGTTAACTGTCCAAACATAACACAATTTACATGCAGTCCCCTAGGCCTGAGCCATGGGCCTCACCCTGGTTCCCAAGTCCTTACAAATCTCTAAGTTGGGGATTGCCTAACAATAGACTGACTAGTAGCAAGTCACCCTCCTACCTAGACCTAAGACAGACCAGCATTCTCTGCTGTGCCCTTTGCACACCCCACTTCTTTTCTACACACTGGGGATGGCCCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGTCAGGAACTGCCCTGTTGCCCACACTCTCCTGTTAAGGTCAGGTCCCCCTGCAGCCAGTGACAACCCCAGATTCCTGCTTCCCCTCCAGTACGCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCCCATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGCGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCA |
Task1_train_23341 | This is a variant in ACADVL (acyl-CoA dehydrogenase very long chain), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGTCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT |
Task1_train_23342 | A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT | AAAATACCTCCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGTCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCT |
Task1_train_23343 | Given a variant located on Chromosome 17 and affecting ACADVL (acyl-CoA dehydrogenase very long chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAG | CCCCAAGCTGGCATCTGGTGAGGCAACCCTAGGAGAGCCAGGGATTGGGGGGCACACTGGGCTTGGCACAGATTAGGCCAGTTGGCACTTAGATTATCAGATGGCTGAGCATTTCAGTTGGGGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAACAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAG |
Task1_train_23344 | Gene ACADVL (acyl-CoA dehydrogenase very long chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAA | GGGAAGGTTTTGGGGAGGCATCACAGTGTGCTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGGTGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAA |
Task1_train_23345 | Gene ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTG | CTGGTTGGGACATGCAAAAGAACTGGATACTCCCAGGTGTTAAGGGGGAACTGCCTGCTGGAGGGATGGGGAAGTGGGCCGAGGGGACTTTGAAGCTCATCAGAACTTGGGGTAAAGTAGCTCTCTCCCCAACAGGGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGACTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTG |
Task1_train_23346 | A variant on Chromosome 17 in gene ACADVL (acyl-CoA dehydrogenase very long chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | GCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCA | GCCGCTTTCTGTCTAACCGAGCCCTCAAGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATACCCTCAATGGAAGCAAGCTTTGGATCAGGCAACCTGCCTCCCATTTCTCCCCTTCTCCTCCGCCCAATTCCAGGCCCCACTGCTCCCCGTCCTCCACGCCCTGAATATCCCATTCTTCCACAGTAATGGGGGCCTAGCAGACATCTTCACGGTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACAGCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCAGTGAGTGAATTTGGGTTGGGGGAGCTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCAGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCA |
Task1_train_23347 | A sequence alteration has been identified in ACADVL (acyl-CoA dehydrogenase very long chain) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCC | CTTAGGACTGAGGGGCAGGACTGGGCTCCTGGGCAGATGGCTGTTGCAAGTCACCCTGGGGACGTGTGCAAAAGCCAAAGCAGGTGGACTGAATGTGGCCTTTGGGACTAATATGTATGCAACTGAGCTAAAGTTTTGGCTCCAGCAACCAAGTCCAACACAAAATAGGACATAGCCAGGCCTCCTTAGCCCTCAGGGCCTGAGGGGAAGTGGTGGCTGTAGCCTCTAATAGTCTAGTGGTCGTCATTCCTCCCTGGTGCATAAGGAGCGAAGGAGCAGTTTTTCCCCCAGTGACAACCTGTTGAACACACCTCTGCTTTCCCACACTGCCCTGACACAGTGGGCCCCCTGAGAAGAAGATGGGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAGAACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGAAGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCGGTGAGTACCCTGCCCGAGTCCCTAGGTAACCCAAACAGAAGTCTCACTGTCCCCCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTTAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCC |
Task1_train_23348 | Given this context: Chromosome 17, gene ACADVL (acyl-CoA dehydrogenase very long chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Very long chain acyl-CoA dehydrogenase deficiency | CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCGGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCCTCACTATGCTGGCTGCTGGCACTGCCCCCACCATAGGTGTAAGATGAAAGCTCATGGTAGGGTGGAGGCTGCGGGCTGTAGGGGTGTGGGGCAGGGTATTGGTAGGAGAAAGTGGGCAGCAGGGGCCAGGGGGTGGCCCCAGGCAGAGGAGCCAGGGTATCCTGGTCTGAAGCCCCACTGGAGCCATCGTTGTCATTGAGAGACAGGTTGACTAGGTCTGGAAAGCAAGGGAAGAGAGGAAGAAATCACTGCTTCAAGAGGCTAGGGCCCCAAGACACCGAATGGAGAGGAACTGGGAACAGTTCTCCCAGACCCACCCACGATGGGGCTCAAAACAGGGGTTCACAAGGGTCTCTGACAAGAAACTCCCATCTACTTCTGCCATGAGGGCAGGGGCACAGCCACTAGCCCACGTCTTTGCGGGACTCAGGTAAGAGGTGCACCTTCCCCCGGTGGACACAGTCCTGCACCTGGCACATGGCTTGTCCAGCAGCACATGGGTGGACGTCAGCCCCCATCCTCGGCCAGTGCAGGACCTAGTGCGGGACACACACTGCTCGACCATCCATGGTGGCCCTGGCTGCGGTTTCTG | CCTTGCCATGTGTCCCTGATCACTTGCAGGCACTCCCTACACTAGAAACTCCTCCCCTACCAGCAGCCCGACTTGCTAGCTTAGGTCTCCATCCAGCGTAGACTGAACTCTGGTTGTATGCAAAACCCATCCCTCTGGCGCAAGCCCAGCCCCTCTCCTAGGGAGACTGCAGAACCACACTGAACCACAGCGGGATGTGTGGACCCTCTTCCAGGTAGATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAGGAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAGGTGAGGGCCTCCCAAGCCCCTCTCCCTGGAGCCCTGGGGCTTTCTTCCCAGTCGGGTCAGACTACAACCCCCAGCAGCACCTGGGGCAGTGGGTCTCCAGCTTTACACCAATGCCCTAGGGGATGCGGGGAGGCATAGTCAGCTCAGCTTCTGCGAAGAGAGACAGCAATGATGTTCTGCTCAGGTGCCTGCCAGCAGTACCAGAAGTTAATTCTACCTCATCCCTTACATCCACCCCTTTTAAGAAAACAAATACCTGGAAGCACCTGATGAACTGACCCAGAACAAGTATCTGCCTGACCTGACAAGCTAGGTCAGCCCTTATCTTGGAGATCTGGGTGATGAGGCCAAGTCTGACAAAGCCCTTTGCAATTTTCCTTCCCATGTCCCAACTATGCAACCTCAGTCCATGGCTTACATGGTGAGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATCTTTGGCTCGGTGAGGTCCCAGGCATGCTGGGAGGGAGTCCAGTTTGGGTGCTCAGCTCCCAAAACCAGTCTCATCTGTTCTTTGTCCCTAGGAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATGGGCTTCATGAAGGTACAGGACGGTCTTCTGCAGAGCCTCGGCTGGGCCAGGGGTGGGTAGGCACATCTCAGCACGGGCATATAATTTGTGTGGCCCTGTGCTAGGAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATCTTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATGGTAAGACAGAGAATTGGGTGGGGGTAGAGGTGGGGAGGACAGTGAGTCCTGACTGCTGGACCCTCTTCCCCCATAGGACAAAGGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTCCTGCTAGGAGAGGCAGGCAAACAGCTGAGGCGGTAGGCTTAGGGCCAGAGCCAGGGGAGGGCAGGGTGGTGTATGGCAACTAACCAGTCATTCTCCCTCTTCCTCTCAGGCGGGCAGGGCTGGGCAGCGGCCTGAGTCTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTGGTAAGTGGCCAGGGGTCCAGGAGAGCCTGCATCAGGGACTGCAGCCGATGGCCCCTCTGAGCCCCGCACTGTCCCCATCTCTTAAGGCAGTACGGGCTCTGGAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCAGTAAGTGAGCTCTACACCATTCCGCCCCTCCCTTTCCTCTCCTTGAGACTAATGCCCCCACCCCCACCCCCACCCCACCTACCGGACAGATGAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTGGTTCTCTCGAGGTGAGGAGGCAGGCAGGGAATGCCTGAGCCGCAGGGGGCCTGGGCCTGGATCCCAGCCGGCCCAGATTTATTTTCATCTCCTGCTTCCTGCCAGGGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAAATGCTCTGTGACACCTGGTGTATCGAGGTGAGACTCGGGGCTGCCAAGCTCAGGTGAGGGCTGGAGGTGCAGGCCCAACCCCTCCTTCCCTCTCCCCAGGCTGCAGCTCCGATCCGAGAGGGCATGGCCGCCCTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCCTTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGAATACTCCCGGCCAGGGCCTGTCCCAGTTATGTGCCTTCCCTCAAGCCAAAGCCGAAGCCCCTTTCCTTAAGGCCCTGGTTTGTCCCGAAGGGGCCTAGTGTTCCCAGCACTGTGCCTGCTCTCAAGAGCACTTACTGCCTCGCAAATAATAAAAATTTCTAGCCAGTCATGCTTTGCTCCTGTGTGACGGTTCTTTCCCCCTGCTGCCTGCCTCCCTCCCAAAGAAAGGAGCCAGAGGCGTGGGGAGTTTGCCTCTATTGCTTTATTTGGTGTTTTATACAAGTGACTAAAATAAATAGAGTAACAAAGGCAGCTACATGGCCCAAATCTCCCAGCTTCCTCAGGCTGCTGTCTAGGATGCCTAACCCCGGGGTACCGCTGACCACCCCCAACCCTGCAAAGGGCAGGGCTGTGGGTAACTGGAGGAGGAGGTCACATTCTGGGGTTAGAAGGGGCCCAATGGATGGGAATTCTTCATATAAAAGAGGAAATGCCTATTAAAAAAGTCCCAAAAATGTAAGAAACTCTATTTTAACCCCCAAAAAGGCTTATAAAAAAACAAAGCTAAAAATAATCAAAGGTCCCTTGTCTACCCCTGAGGGAAGGGGGAGGAACCAGGCACTGCTGGTGAGAGTCACAGTGGCCACAATCTCCTGTATGGCAGCAGCTGGTAGGCTGAGCCCAGGCACTGTAAGAGCAAGCACATGACGGCCAGGACACCCAGTCACACACCAGGAGCGCCCGGCCCAGCCTGGCCCCACAGTGGGCTACATAACATCCACAAAGAACTCGCTGGGATTGCCCATGGCCATGTGGAAGCTTTGGCGGCTGGCTGTCAGTTCTGGGGGCACAGAGCCCAGGTCTCTGACTGGAGGGGCCCCCGGAGGCTGCACTGCTGGAGGGACTGGAGGTGGAGGTGGGGGCATCATGACCACCATCATGGGGTTGTAGGGGAGGGCCATGCCAGGGGGCGGTCCATAGGGATGGAGCCCTGGGTGGGCTCGGAGATTAGGGGCACCCCCAGTTGAGCCTCTGGATGGAGGAGGGCCCCCATCGCTAGTCCCACTTGCTTCCCCACCCCGCCGAAGGCTGCCCCCTCGGCTGGAGGGCTCAGACTCACTGCCACTGCCGGACTTGGACTCGGGGGCCCGCTCCTCGGGCCTCCCCGTGCGCCCTGCCCCCCCATCACTCCGTGTCGACCCACTGCTCCGGCTGCCTGTGGAGGGAGGGGAGGGGCAACTGAGTCCTCACCCAGGCTCCTCCCTGGCTCCCCTCTCATCCACCCTCAGATCCTGGCCGTACAGGTATGTGGGGATGACTTACCCTCACTATGCTGGCTGCTGGCACTGCCCCCACCATAGGTGTAAGATGAAAGCTCATGGTAGGGTGGAGGCTGCGGGCTGTAGGGGTGTGGGGCAGGGTATTGGTAGGAGAAAGTGGGCAGCAGGGGCCAGGGGGTGGCCCCAGGCAGAGGAGCCAGGGTATCCTGGTCTGAAGCCCCACTGGAGCCATCGTTGTCATTGAGAGACAGGTTGACTAGGTCTGGAAAGCAAGGGAAGAGAGGAAGAAATCACTGCTTCAAGAGGCTAGGGCCCCAAGACACCGAATGGAGAGGAACTGGGAACAGTTCTCCCAGACCCACCCACGATGGGGCTCAAAACAGGGGTTCACAAGGGTCTCTGACAAGAAACTCCCATCTACTTCTGCCATGAGGGCAGGGGCACAGCCACTAGCCCACGTCTTTGCGGGACTCAGGTAAGAGGTGCACCTTCCCCCGGTGGACACAGTCCTGCACCTGGCACATGGCTTGTCCAGCAGCACATGGGTGGACGTCAGCCCCCATCCTCGGCCAGTGCAGGACCTAGTGCGGGACACACACTGCTCGACCATCCATGGTGGCCCTGGCTGCGGTTTCTG |
Task1_train_23349 | Mutation context: Chromosome 17, Gene EIF5A (eukaryotic translation initiation factor 5A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Faundes-Banka syndrome | TCGAGTCAGTGCGTTCGCGCGAGGTGAGAGCGGGCAGGGCGCGTGTGCGCGGTACCTTGGCTTGGGCCCGGGAGAAGATGGAACTGCGCGGGGGTCGGGGAGGGGGCAGAGGGGAGCGGCGGCCGCCGCCGCACGGGTTCGGCCAGAGAGCGGCGCGAGGTGAGGAGAGGCGCGGGCGCGCGCCCCGGTTGGCGCGCGGGGTGACGGTTGGGGTTGGCCCGGTGACGTTGGAGCGACGCAGGGCGGGGGACGGCGAGCCGCGAGGCAGCCACGCGGGAGAGGCCGCCAGGCGGCCACGCCGGGGCGAGGGCCAGGGGCCAGATCGGCCCACCGGGGCAAGGGTACCTGGGCCGTTGAGGACCCGGCTCAGCGCGGCCACGTGAGGTGGGGGAGGGGGCTATTCGGTGAGAGGGCATGATGGGGGGGGTTGGCGGACGGCCGGGGGGAGGGGAGGCGGCGTGGCTCCGGCCTGGCGCAGTCTCTGAGGAGGGGGCGGCCGCGGCACCGGAAGTGCCCCCCACGGGAGGCTGCCCTCGGGGTCGCAGGCCGCATGGCCAAGCGTGGACCGGGGCCGCATGGCAGCGCGGGGACCCCTCCCCCCAGGTCCCGGCCACCGGAAGCCCGGAACGGCCACATGGTCGGCAGGAGCCGGCAGCCCCTAGCGCGGGGAGCTAGTCCTCGCGGGGGTTCCGAGGGGGCCTGAGATTTTGAGGAGTGGAAGCCGGAGGCTCGGGTCCTAATCACCCCGGAGGGCCTGCTGCAGGCATATGTTAGCGCTTCCCAACCTCAAGGGCCCCAGGAGCTTTCCTGAAAAACCCTCCTGTGAAGTGTGGCGGTCAGCCAGGTGTAAGTGGCACCCCTTCGAGCTGGGAGGCCGGAGAAATGGGGAAACAGGGCGTTTGGACAGGAGCCCAACTTTTCTGTCGGCCTGGGTGGACAGCGCCTAAAAGCCTCAGGCAGATGAGTTTCCCACCGTGATAGGCGTTCTTCACCTTGTCACTGTCTTCCTGTTGTAACTGGTTTGGGAGTTCCACGGTTTCGAAGTCCTTAACTCTACTAGCCTAGTATGATTTTCTACTACTCACTACTACCAACCTTTTGCTTTCATTTTATTGTCATTCACCACCCCCCACCTCTCCCACTTTCTACTGACTGTACTGGCCCGGCCTGAAAAGCCGACAGGACAGATGCATCCTGGGAAAAGTGGGAGGGCCTTCCAGGAGAGGCTGGGTTCCTGGGTTCTCTTTGGGAACCAAGATCGAGGTGTTTGGCAGGGGGATCATTTCGGAAACAACTTTGCTTTCTCCCCCTTGGCTTGTTGCAAGTGCATGTTGGCGAGGCGGGAATCCCCCAAAGAGGCCTTGTGGTTTCCTGTAGCAGTGACTGGTTTGTGTGTGGATGGGGGGGGGCAGTGTAACAGATGGGTGGGGCCTTGTCCTCCGGTCTCCACCCTCCCCCCCCCCAATTAGCCCTGCCCTTTTGCTGGATCATAGCTGCTCACCTAATTATAGCCCTGGCTATATGTGGGGAAGAGGGGTGGTTGGTTTCAGTGGCAAGTAACACCTGAGTCCTCCCCACTCCCAGGAAGTAGGCCTTTTCTCATCTCTGAGATTTGACATTCCAGCTCCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGACTGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTACGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTG | TCGAGTCAGTGCGTTCGCGCGAGGTGAGAGCGGGCAGGGCGCGTGTGCGCGGTACCTTGGCTTGGGCCCGGGAGAAGATGGAACTGCGCGGGGGTCGGGGAGGGGGCAGAGGGGAGCGGCGGCCGCCGCCGCACGGGTTCGGCCAGAGAGCGGCGCGAGGTGAGGAGAGGCGCGGGCGCGCGCCCCGGTTGGCGCGCGGGGTGACGGTTGGGGTTGGCCCGGTGACGTTGGAGCGACGCAGGGCGGGGGACGGCGAGCCGCGAGGCAGCCACGCGGGAGAGGCCGCCAGGCGGCCACGCCGGGGCGAGGGCCAGGGGCCAGATCGGCCCACCGGGGCAAGGGTACCTGGGCCGTTGAGGACCCGGCTCAGCGCGGCCACGTGAGGTGGGGGAGGGGGCTATTCGGTGAGAGGGCATGATGGGGGGGGTTGGCGGACGGCCGGGGGGAGGGGAGGCGGCGTGGCTCCGGCCTGGCGCAGTCTCTGAGGAGGGGGCGGCCGCGGCACCGGAAGTGCCCCCCACGGGAGGCTGCCCTCGGGGTCGCAGGCCGCATGGCCAAGCGTGGACCGGGGCCGCATGGCAGCGCGGGGACCCCTCCCCCCAGGTCCCGGCCACCGGAAGCCCGGAACGGCCACATGGTCGGCAGGAGCCGGCAGCCCCTAGCGCGGGGAGCTAGTCCTCGCGGGGGTTCCGAGGGGGCCTGAGATTTTGAGGAGTGGAAGCCGGAGGCTCGGGTCCTAATCACCCCGGAGGGCCTGCTGCAGGCATATGTTAGCGCTTCCCAACCTCAAGGGCCCCAGGAGCTTTCCTGAAAAACCCTCCTGTGAAGTGTGGCGGTCAGCCAGGTGTAAGTGGCACCCCTTCGAGCTGGGAGGCCGGAGAAATGGGGAAACAGGGCGTTTGGACAGGAGCCCAACTTTTCTGTCGGCCTGGGTGGACAGCGCCTAAAAGCCTCAGGCAGATGAGTTTCCCACCGTGATAGGCGTTCTTCACCTTGTCACTGTCTTCCTGTTGTAACTGGTTTGGGAGTTCCACGGTTTCGAAGTCCTTAACTCTACTAGCCTAGTATGATTTTCTACTACTCACTACTACCAACCTTTTGCTTTCATTTTATTGTCATTCACCACCCCCCACCTCTCCCACTTTCTACTGACTGTACTGGCCCGGCCTGAAAAGCCGACAGGACAGATGCATCCTGGGAAAAGTGGGAGGGCCTTCCAGGAGAGGCTGGGTTCCTGGGTTCTCTTTGGGAACCAAGATCGAGGTGTTTGGCAGGGGGATCATTTCGGAAACAACTTTGCTTTCTCCCCCTTGGCTTGTTGCAAGTGCATGTTGGCGAGGCGGGAATCCCCCAAAGAGGCCTTGTGGTTTCCTGTAGCAGTGACTGGTTTGTGTGTGGATGGGGGGGGGCAGTGTAACAGATGGGTGGGGCCTTGTCCTCCGGTCTCCACCCTCCCCCCCCCCAATTAGCCCTGCCCTTTTGCTGGATCATAGCTGCTCACCTAATTATAGCCCTGGCTATATGTGGGGAAGAGGGGTGGTTGGTTTCAGTGGCAAGTAACACCTGAGTCCTCCCCACTCCCAGGAAGTAGGCCTTTTCTCATCTCTGAGATTTGACATTCCAGCTCCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGAATGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTACGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTG |
Task1_train_23350 | A variant found in Chromosome 17 affects EIF5A (eukaryotic translation initiation factor 5A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Faundes-Banka syndrome | CCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGACTGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTACGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTGGCGGTGGTGGCAGCAGTGATCCTCTGAACCTGCAGAGGCCCCCTCCCCGAGCCTGGCCTGGCTCTGGCCCGGTCCTAAGCTGGACTCCTCCTACACAATTTATTTGACGTTTTATTTTGGTTTTCCCCACCCCCTCAATCTGTCGGGGAGCCCCTGCCCTTCACCTAGCTCCCTTGGCCAGGAGCGAGCGAAGCTGTGGCCTTGGTGAAGCTGCCCTCCTCTTCTCCCCTCACACTACAGCCCTGGTGGGGGAGAAGGGGGTGGGTGCTGCTTGTGGTTTAGTCTTTTTTTTTTTTTTTTTTTTAATTCAATCTGGAATCAGAAAGCGGTGGATTCTGGCAAATGGTCCTTGTGCCCTCCCCACTCATCCCTGGTCTGGTCCCCTGTTGCCTATAGCCCTTTACCCTGAGCACCACCCCAACAGACTGGGGACCAGCCCCCTCGCCTGCCTGTGTCTCTCCCCAAACCCCTTTAGATGGGGAGGGAAGAGGAGGAGAGGGGAGGGGACCTGCCCCCTCCTCAGGCATCTGGGAGGGCCCTGCCCCCATGGGCTTTACCCTTCCCTGCGGGCTCTCTCCCCGACACATTTGTTAAAATCAAACCTGAATAAAACTACAAGTTTAATATGAAGCCCCCAACTCAGCTGCTTATTTGAATTAAATGGGTGTATTTGGAAGCCACAAAAAGACTGAACTCTGCCACTGAGTTCACTGGAACCCGCTGTCTATCACTTTGACTTGCTGTGGACCTGCCAGCCATCCCCCCACCCTCCAAGCAACCTTGACCTATTCCAGACAGTTGGGTGGGAGGCAACACAAACAGCAGCAGCCAGGGGCAGTGGCAGGTAGATTTTATTGGCCTGGGACACACAGGGGATACCCTCACCCACGATGGGGTGGGGGGTGTGGTGTTGAAGATATAATCTGATGGTCACTTGTGGTAGAATCGCGGGTTCTGGCTGTGTTGGATGAAGGGGAGCCGAGGGCCAGGTTGGCTGGTAGCTGCAAAGCCCGACTGGTGGTGGTGATGAAAAGAGGGCTTTGTCACTGGGCATACTCTCCCTTCCACTTAATACCCTACTGATAACCACCCCCAAAGAGGAAGGAAAAACCAGATGATGTGGGCCACCTGTCCTACCTAATCCTGCTTTTCCGGATCCCTAGTGTAGGGATTCTGACAGGTAAATTCTATTACCATTCTTACCTTTCCTGCTGGCTGCATCTGCACAGGGAGCTGGGGGGAAGCAAGGAGTCCAGGGGCTGGATGCAGAGCCTGGGGGTGCATGGGGCGCAGAGAGGACTGCAGAGAACAGAGTCAGGGCCTGAGGCATACTGAAGCTCCCCTTAACATATCCCTAACCCTGACCTCCCAAGGTGCCATACTCACTGAGTCGGAGAAGCCAGTCTGCTGGTTAGCATGTTCCATCTGCTTTTGCAAGGACAGGGCACCACCAGGCTGGAGGAAACCTAGGTGGGGAAGAGGGGCATGTGAGATGAGAATGAAACAGGGAGGGGAGGACCTGAGAGCTAGAGCTCCTGCATGGGATGTTATCACCTGTCTGAGTGGGCTGAAAGTGGCCATGCACAGCATAGGGCTGTGGCTGTGGCTGAGATAGGTACTGCACTG | CCCTAGAGCCTTCCTTTCCCAAGCCACCACTTTAGCTTTGATTTATGGGGGAGAAACCAGCTATTCCACCCTCCCATACACACACCAGTTCTTGAGTATATTTGAGCCCAGTCAGTATTTTAAGTTCAGGAACTTTGACTTTATTTTAGGTGGGTAATGGAATAAAGAGTTGGGAAAATGTTTCTGGAGAGAAATGGGATAGATTGGAGGTCCTGTTGACCTCCATGCTTATTCACTTCAGTTCTCTTCTTGGCTCTAGTTGGAATCGAAGCCTCTTAAAATGGCAGATGACTTGGACTTCGAGACAGGAGATGCAGGGGCCTCAGCCACCTTCCCAATGCAGTGCTCAGCATTACGTAAGAATGGCTTTGTGGTGCTCAAAGGCCGGCCATGTAAGATCGTCGAGATGTCTACTTCGAAGACTGGCAAGCACGGCCACGCCAAGGTTAGAATTTCACCTCCGCATCTTGCCTTCCCCATGCCTCCAGTATCTTTGGCGCTCCCAGCAGCAAGCTGCCAACAGTGCTGACTTTCCTTTAACTCTGCTTTTACTGTCTGATTGTTTTTGTTTAGCGCTCAGCCTTCATACCCATTCAGACAACTACACCTGCTCCCCAGTCTTCAGCCTCTTCTGTGGTTACCCTTCTGTCCCCGCATCATTCTCTGGCAGTCCCTCCGTTTCTCCAGCTTTGTGCCAATCTCTTCAATTCATAGGCCTTTATGCTCTAGCTATTCAGTTGCTCCTTCCTTATTCTTGGTTTTCACTTTTTCTTTCTTCCCTTGAGCCGTTGTTAAGTGGTTGCTTCCATCACGTTGCCCAGGGTTTCTCCAATTCTACGCCTTCCCCTGGAGGGACTCCTGCGTCAATTCTGAGCTTTCAGGTCACCTTGCTGCTTCGTTCCCCAGTTCTAGCTTTCCCTTTGGAACTCTGACGCAGGATCAAACTGCCCCTACCTGCCCCATCCCACTCTCCTTGGGTTCCTTGAGCCTCCATGCTTTCATGGGTTTTAACATTCTTGCTAGCACTTCCCTCATCACCTCAGACTTTTCCTGTCTCTTTAGAATTTCAACCTGATTCGTTCTTGTTGAATTTCTTGTGGTGTTTTTCCTTAATCAGTTTTTCCATCTTTTGACTTGACATTGATCTTGGATTATTCTCTAGTGTCTGGATCCCTCTCTGTGCTCTTCTGGCTTCCTTATTTTCTAGCTACATAGTTATTTCTGATCTCCCTGCAAGTCCTTTTCTTCAGCTCTTTCACATTTCTTAGTTTCTTATCCTTTCCCTTCTACCTTCCTTATTCCCCAGTTTCTCAGCTCCTTCTCCTGGTGTCCGGAAAACTCTTCGAAACTTTTACTCAGACTCCTCCCACTCCCCTAGACTCTTAGCATCTTATCTTTTATCAAGGTAACTGTCTTCTCCAAGCCTGCCATGCAGTTTTCTATTGTGCTGTCAACCCCAATCTCAACGGTGGTTTTTTAGCCTCTGTTTTTTTTCTTTAAGAGGCTTTACTGTTTCTTGAGTTGACTGGTTCAATTCCAACACTCCAGTCTTTGCCCCAACAATGTAATTCTGACTTCCCTCATCAGGCAAGGTCAATTTGAGCCTTTATTTCCTCCGTTTTAGAGTTTGGTTGGGTTTCTCTTTGTGATGCATACATACAGGTCCATCTGGTTGGTATTGACATCTTTACTGGGAAGAAATATGAAGATATCTGCCCGTCAACTCATAATATGGATGTCCCCAACATCAAAAGGAATGACTTCCAGGTATGTAGATGGTCTGGATGAGGATGGGTTAGCGGTTTATGGTGGAGGGAGGGGTTGGGGGATAGGGACTGACCAGGAGAGCTTGTGCTGGGAGAGAGGAGGGAAATGGCAGGAGAGGGTGTTTGGTATTAGTTTGCTATCAGTCCAGTTTGTCTATCAGAGCCTTTACTGTCATGTCAGCCTCCCTGGGCCTACTACCTTCAGCCTCCTTCCCTATCTGCCCCCAGCTGATTGGCATCCAGGATGGGTACCTATCACTGCTCCAGGACAGCGGGGAGGTAGGAGAGGACCTTCGTCTCCCTGAGGGAGACCTTGGCAAGGAGATTGAGCAGAAGTACGACTGTGGAGAAGAGATCCTGGTATGGTGCCTCCCTCCCTGCTTCTGTGCTCAGCTTTGTTCTGTACGTTTCTTCCTGAGCTCAGACATCTCTTGGCTATCCCTCTTGCTTCTCCAGATCACGGTGCTGTCTGCCATGACAGAGGAGGCAGCTGTTGCAATCAAGGCCATGGCAAAATAACTGGCTCCCAGGTGAGTGTGACAAATCCCTCACTGTCCCCTTCACATTTTGTTGTCCTCAGCAGAGCTGCTGTAGTCTTAATTGTTTCAGGCTTACTTTCTGCCCCTAGCCTGGCTCTGTCCTCCCTATCCTTCCTGTTGAAGGTATTATCCTGTCTTACTAATTTCTCTCTCCTACCTAGGGTGGCGGTGGTGGCAGCAGTGATCCTCTGAACCTGCAGAGGCCCCCTCCCCGAGCCTGGCCTGGCTCTGGCCCGGTCCTAAGCTGGACTCCTCCTACACAATTTATTTGACGTTTTATTTTGGTTTTCCCCACCCCCTCAATCTGTCGGGGAGCCCCTGCCCTTCACCTAGCTCCCTTGGCCAGGAGCGAGCGAAGCTGTGGCCTTGGTGAAGCTGCCCTCCTCTTCTCCCCTCACACTACAGCCCTGGTGGGGGAGAAGGGGGTGGGTGCTGCTTGTGGTTTAGTCTTTTTTTTTTTTTTTTTTTTAATTCAATCTGGAATCAGAAAGCGGTGGATTCTGGCAAATGGTCCTTGTGCCCTCCCCACTCATCCCTGGTCTGGTCCCCTGTTGCCTATAGCCCTTTACCCTGAGCACCACCCCAACAGACTGGGGACCAGCCCCCTCGCCTGCCTGTGTCTCTCCCCAAACCCCTTTAGATGGGGAGGGAAGAGGAGGAGAGGGGAGGGGACCTGCCCCCTCCTCAGGCATCTGGGAGGGCCCTGCCCCCATGGGCTTTACCCTTCCCTGCGGGCTCTCTCCCCGACACATTTGTTAAAATCAAACCTGAATAAAACTACAAGTTTAATATGAAGCCCCCAACTCAGCTGCTTATTTGAATTAAATGGGTGTATTTGGAAGCCACAAAAAGACTGAACTCTGCCACTGAGTTCACTGGAACCCGCTGTCTATCACTTTGACTTGCTGTGGACCTGCCAGCCATCCCCCCACCCTCCAAGCAACCTTGACCTATTCCAGACAGTTGGGTGGGAGGCAACACAAACAGCAGCAGCCAGGGGCAGTGGCAGGTAGATTTTATTGGCCTGGGACACACAGGGGATACCCTCACCCACGATGGGGTGGGGGGTGTGGTGTTGAAGATATAATCTGATGGTCACTTGTGGTAGAATCGCGGGTTCTGGCTGTGTTGGATGAAGGGGAGCCGAGGGCCAGGTTGGCTGGTAGCTGCAAAGCCCGACTGGTGGTGGTGATGAAAAGAGGGCTTTGTCACTGGGCATACTCTCCCTTCCACTTAATACCCTACTGATAACCACCCCCAAAGAGGAAGGAAAAACCAGATGATGTGGGCCACCTGTCCTACCTAATCCTGCTTTTCCGGATCCCTAGTGTAGGGATTCTGACAGGTAAATTCTATTACCATTCTTACCTTTCCTGCTGGCTGCATCTGCACAGGGAGCTGGGGGGAAGCAAGGAGTCCAGGGGCTGGATGCAGAGCCTGGGGGTGCATGGGGCGCAGAGAGGACTGCAGAGAACAGAGTCAGGGCCTGAGGCATACTGAAGCTCCCCTTAACATATCCCTAACCCTGACCTCCCAAGGTGCCATACTCACTGAGTCGGAGAAGCCAGTCTGCTGGTTAGCATGTTCCATCTGCTTTTGCAAGGACAGGGCACCACCAGGCTGGAGGAAACCTAGGTGGGGAAGAGGGGCATGTGAGATGAGAATGAAACAGGGAGGGGAGGACCTGAGAGCTAGAGCTCCTGCATGGGATGTTATCACCTGTCTGAGTGGGCTGAAAGTGGCCATGCACAGCATAGGGCTGTGGCTGTGGCTGAGATAGGTACTGCACTG |
Task1_train_23351 | Consider this mutation in CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; See cases | CTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACC | CTTCTGACCTCAGGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGATGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACC |
Task1_train_23352 | This alteration occurs within gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myasthenic syndrome 2A | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT |
Task1_train_23353 | A mutation on Chromosome 17 affecting CHRNB1 (cholinergic receptor nicotinic beta 1 subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital myasthenic syndrome 2C | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT | GGTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTT |
Task1_train_23354 | This variant lies on Chromosome 17 and affects the gene CHRNB1 (cholinergic receptor nicotinic beta 1 subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 2A | GTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTTG | GTGATCTGACCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCGCACCCAGCTTGATTTATATTTTAACAAAATCAGTCTGGCTGCTCGGTTGAGAACAGTCAGCATGGGAGAAAAGGATGGAGCAAAGAGACCAGTTAGGAGGGCTTTACAATAATTCAGACCTAAGGTAATGTGCTTTAGAGCAAGGTGGTGATGTAGGAGGTGGGACTCGACTCCAGACCAAATTGAGGACCAGCTAGAACAGGAACAGGGCAGATGCAGCTTTCCATAAGACATACTCACGAGTGTGCCATGTCAGTTTACCATTGCCATGGAAACACCTGGGAGTTACCACCCCTTTGGCAATCACCTGATGACACAGAAGTTACTGCCCTTTCCCTAGAAATTTCTGCCTAATCCGTTGCTTAATCTGCATGCAATTAAACGTAGGTATAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGCAGATCCCTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTTAGCCAAGTGTGGTGCCATGCACCTGTAATCCCAGCTGCTCGGGAGGCTAAGACAGGAGAACTGCTTGAACCCAAGAGGCAGAGGTTGCAGTGAGCTGCAATCACGCCACTAAACTCCAGCCTGGGTGACAGAGTGAGAGTCTGTCTAAAAATAAATAAATACATAAGAGATAGGGAAGACTATCAGAGGAGTAGCTTTGGTAGTAAGATAATTTAGTTTTGGACATTTTGTTTTATTTTGTTTCTGCTTTTGTTTTTTGAGATGGAGTTTTGCTCTTGATGCCCAGGCTGGAGTGCAATGGCACGATCTCGACTCACTGCAACCTCTGCCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACCCCTGACCTCAGGTGATTCGCCTGCCTCGGCCTCGCAAAGTGCTGGGATTACGGGTGTGAGCCACTGTACCCGGCTCAGTTTTGGACATGTTAAGCTTGAAATATTTATTAGACATCCAACTATCCAAGAGAGGTTGAGTAGGCAGATGGATATATATCTGGCATTCAGGGGAGAAGTCCAGGGTGGACATACAAATGTAGGAATGATTTACATGCAGATGGCCCTTCCAAAAGCCTGTCTTTTTTTTTTTTTTTTTTTTTTTATGATGGAGTTTTGCTCTGTTGCTCAGGCTGGAAGGCAGTGGTGCCATCACAGCTCACTGCAGCCTCCATCTTCCACACTCAAGCAGTCCTCCCAACTCAGCCTCTCAAATAGTTGGGACCACAAGCATGCGCCATTGTGCCTGGCTAATTTTTTTTTTTTTCTTTTTGTAGAGGTTGGGCAAAGTGGCTCACGCCTGTAATCCCAACAGTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGTAACATGGTGAAATCCTGTCTCTACAAAAAGTACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCCGAGGTGGGAAGACCACTTGAGCCTGGGAAGTGGAGGTTTCAATGAGCCATTATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACCCAGCCTCAAATTTGTTTTTGTAGAAAAGAGGTCTCCCTATGTTGCTCAGGCTGGTCTGAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCCCAAAGTGCCAGGACTACAGGTGTGAACCACTGTGCCTGGCTGTAGAAATCTGTCTTTGAATGGCCTGGAAACATGGTCACTGATTATGCCATAGAGCTTTCCTTCAGGCAAGTCTAATCCTTCTCTCTTCCCCTCTGCCCTCCAAGGAGAGAAGATGGGGCTCTCAATCTTTGCCCTGCTGACCCTTACTGCGTTCCTGCTGCTGCTGGCTGACAAAGTACCTGAGACCTCACTATCAGTACCCATTATTATCAAGTACCTCATGTTTACCATGGTCCTCGTCACCTTCTCAGTCATCCTTAGTGTCGTGGTTCTCAACCTGCACCACCGCTCACCCCACACCCACCAAATGCCCCTTTGGGTCCGTCAGGTAAGAAAGATCTCCTCCTCCAACCCCAATTTTCCTTTTACAGACCATAGGGAGAACTATAGCTATGTGGCAGAGTGTTGAAGTGTCCAAGCTTGTTGAGTGTTGAAATGTTGCACAGTTAAGCTAGCCCCCATCATTATCATTTCACAGATCCCATACTCTCTTCATCAATACTGCCCATCTCGGGTCCCAGGGAAATATTCTTAGGGTTAGGTACTATCAGATTGGAAGCCCTCTCTTTCCAGTTGGGATACCTCCCAACCCACTAAATAGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGTTCTTGTGGCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTTCACCTCCCAGGTTCCAGCGATTCTCCTGCCTGAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAGAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCGCGACAGGCCCAACCCACTAAAGAGCTCTTAGGTCTGTGTGGCTGCATTTCCTTGTGTAGCTCGTTTGTGGAAGAATATGCACGCACATACTCACGCGCGGGAATGGGCATGTGGAGTGGGGTGGTTGGCTGTTTCCCTTCTGGTCTGAAAGCATGAAAGCCCCCACCAATACGCCTCTTCTACTCTGCAGATCTTCATTCACAAACTTCCGCTGTACCTGCGTCTAAAAAGGCCCAAACCCGAGAGAGACCTGATGCCGGAGCCCCCTCACTGTTCTTCTCCAGGAAGTGGCTGGGGTCGGGGAACAGATGAATATTTCATCCGGAAGCCGCCAAGTGATTTTCTCTTCCCCAAACCCAATAGGTAGGACTACGCCCGTTACCCACATAAGAGGGAGAGGGAGAACTACAGTTCCCAGAAGAGTGTGCGGAAGAAGCGGCCCATGCTCTCGGAAGACGCTGTGGTTGAGCATCATGGGAGTTGTAGTACTCCTGCTGCTCACTTTGAGGGGAGGTGGGAACTAAAACAGAGGCGGTGGAAGAAGTTGCACAAGGCTAGAGAGATCACTGCTGGAGGGAAAAGCATGATGGGCTCTCGGGTTTTGAGAACTGGCAAGTTGTTGGAGGCAGCTGGAGCGGGGCCTGGGTCGCCGGCACTGGCTGTCTTTGCGTTTGGGCGTGGCCAGTCACTCCTCTTCCAGGTTCCAGCCTGAACTGTCTGCCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCTGTGGCCCTGCTTCCGGAGCTACGGGAGGTCGTCTCCTCTATCAGCTACATCGCTCGACAGCTGCAGGAACAGGAGGACCACGATGCGGTATGTCCAACGGGGGTGGAACAAGGCCAGGTCTAGGCGACCTTGGCCCCACCCCCAAATTCCGCACCAGCACTCGCTTTCGTTTTTTTTGTGTGGTTTTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCCTACGGGTTCAAGCGATTGTCCTGCCTCAGCCTGCCGAGTAGCTGGGACGACAGGGGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGTGGCTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTGATCCGCTCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCGCTTTCGTTTCTGATTGGACCTCTCCCTCATTTG |
Task1_train_23355 | The following genetic variant occurs in POLR2A (RNA polymerase II subunit A) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAGCAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA |
Task1_train_23356 | This alteration occurs within gene POLR2A (RNA polymerase II subunit A) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA | TGGTCCAAATGGAAACCTGGCTTAAGTGGGCAGTGGGGCTCTGGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAGCAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAA |
Task1_train_23357 | Given this context: Chromosome 17, gene POLR2A (RNA polymerase II subunit A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | GGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGACGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAAGGAATTGAGCAAGAAGCTGGTGATTGTGAATGGGGATGACCC | GGGGTGCAAGGTGGAGGCTAGAGAGGAAGAGCTGTGTTTTTTTTCCTGACTTACCCAGCAGTGGTCTGTGAGATTGTCTTTTCTGGTGGGCGAACAAAAAGGGGGTTAGGAAAACTCAGGCCAAAAAGGTGTAAGGCGTTAATTCCCCATTTAATTCCTTAAAATTTCATGTAATACCAGGTATTGCCTGTAAAGGAAAGATAAAGGGAAAAATAAGTAAGACCTTGTTCAAATTTTATTTTTCTATTTTAACCTTCACTTATTTCCTAATTATTAAAAGAAATTTATGCTTATTGTTAAGAACAAAAACAAAAATTTCAGTATTACAATGAATTTTTAATTAAAAGTTTTTGGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCATCTCTACTGAAAAATACAAAAAATTAGCCGGGCGTAGTGGCATGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGTTTTTGGGACTGGGCATGGTGACTCACACCTGTAATTCTAGCACTTTGGGAGGCCGAGGCAGGCACATCATTTGAGGCCAGGAGTTGGAGACAACTCTGGCCAACATAGAGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCGGACATGGTGGCAGGTGCCTGTAATCCCAGCTACTTGAGAGGCTGTGGCAGGAGAATTGCTTGACCCCAGGAGGCGGAGGTTGCAGTGAGCCCTGATTGCACCATTGCACTCCAGCCTGGGTAAACAGCAAGACCCTGTCTCAAAAAATTAAAGGTTGGAAAAAACTTTTCCTGTCATCTTTGCCTCCAAAATCTGGCTTTCTCCCTTGGGCAGGGAAACCTCCCCAACATTTCTCTATCATCCCTGAGATGTGGGGCCTGCACTCTGACTTCTGTCTGCCTTACTCTTTGTCTTACAGGGTGAAGTGATGAACCTCCTGATGTTCCTGTCGACGTGGGATGGGAAGGTCCCACAGCCGGCCATCCTAAAGCCCCGGCCCCTGTGGACAGGCAAGCAAATCTTCTCCCTCATCATACCTGGTCACATCAATTGTATCCGTACCCACAGCACCCATCCCGATGATGAAGACAGTGGCCCTTACAAGCACATCTCTCCTGGGGACACCAAGGTAGGGCTTGGCTTCTGGATATGTGAGGACAGAATTTGGACGTGGGAGCCAGGACCAGAGCAGGGGCCTTGAGTGGGTGCTTTGTCCTTAGGTGGTGGTGGAGAATGGGGAGCTGATCATGGGCATCCTGTGTAAGAAGTCTCTGGGCACGTCAGCTGGCTCCCTGGTCCACATCTCCTACCTAGAGATGGGTCATGACATCACTCGCCTCTTCTACTCCAACATTCAGACTGTCATTAACAACTGGCTCCTCATCGAGGGTGAGCATGGAGGCGTGGTACCAAGACGTCTCTGTGAATTCTCTAACTTCTTACTGTCCTTCCATCCCTTTCTTTCCTCCTTGGATTTGGTGCCCCCTGCTTCTACTCTCTTGGCTATAATTCCATTCCATGTTTCTTAGAGGTCCAAAGGGGTTTGCTGATGTTTTTCCCTGTCTCTAGGTCATACTATTGGCATTGGGGACTCCATTGCTGATTCTAAGACTTACCAGGACATTCAGAACACTATTAAGAAGGCCAAGCAGGACGTAATAGAGGTAAGAGGGGAGGCCACCAGAGACGGAATAAGGGGTTTCCAGGGACTTCGAAGTTAGCATCATCAAGAGCAAAGGGAGTGTAAGGTTAGAGGGAAGGGGCAGAGAGTAGGGATTGATGTCTCACCGAGAACTCTGCCTCCAGGTCATCGAGAAGGCACACAACAATGAGCTGGAGCCCACCCCAGGGAACACTCTGCGGCAGATGTTTGAGAATCAGGTGAACCGCATTCTTAACGATGCCCGAGACAAGACTGGCTCCTCTGCTCAGAAATCCCTGTCTGAATACAATAACTTCAAGTCTATGGTCGTGTCCGGAGCTAAAGGTTCCAAGATTAACATCTCCCAGGTGAGAAGCCTTGTTTTTCCATATACGGGGCCGCTGTGAAGTTTGGGAGGAGGAAGGAAGGTGTTTGTATGTATTAGGGTCAGGAGAATCACGGGAGTTGGGGGAAATTTTGGGAACTGTTATTCTTAAGGCAGAGGGAATTCAGTATACACCACCTTTCTGTTTCCCAGGTCATTGCTGTCGTTGGACAGCAGAACGTCGAGGGCAAGCGGATTCCATTTGGCTTCAAGCACCGGACTCTGCCTCACTTCATCAAGGATGACTACGGGCCTGAGAGCCGTGGCTTTGTGGAGAACTCCTACCTAGCCGGCCTCACACCCACTGAGTTCTTTTTCCACGCCATGGGGGGTCGTGAGGGGCTCATTGACACGGCTGTCAAGACTGCTGAGACTGGTGAGGCTTTCCTCAGGGGTCTTCCTTGGGCTGTTAGCAGGGACTGCTGCAGGCTGAGAAACCCCTAACAGGTGGGGAGCGGAAATGCTCAGGCTCCTATTCCCAGGGTATAATTCTGGCCCTTGTGGAAAGAATAGAGTCTCAAGAGTAGGCAAACACCCTTGTTTGGATTGCTGTGCAGCATTGCACAGTGCAGGGACAGAGCTTCCGGGGCTCTGCCGGCCTGTCCCATGGGAGTGGTTCCTGCTGGGCTTTTTGTCCGTCTAGTGGTAGACACTGAGTTTGCATTCAAAGGCCTCAGACACAGAGAGTACTAGCTGACTCTTCTGACAGTCAGGTAGGTTAAGGCCCCAGCCTGGGTCTTTGGGCTTTATCATCCCCTTACTTCCCTCCAGGATACATCCAGCGGCGGCTGATCAAGTCCATGGAGTCAGTGATGGTGAAGTACGACGCGACTGTGCGGAACTCCATCAACCAGGTGGTGCAGCTGCGCTACGGCGAAGACGGCCTGGCAGGCGAGAGCGTTGAGTTCCAGAACCTGGCTACGCTTAAGCCTTCCAACAAGGCTTTTGAGAAGAAGTGAGGAGGCGGGCAGGCGGGTGGTTCTCGCCCCTGGGGCTCAGGGCCTGAGTAGTAGGATTCCCATACCTATTCCAGAGAGATAGCCTGGTATGTGTCTTGCACTAGAGCTTACCTTTCAGCATCCTTCCCCACCTATCTGAAACAGCTGTGTGACATGGGGGAGGTGGTGGATGGAGGTGGATTTAAGATTGGTCCCCACATCGTCCCTGCTGATATTATAAAGCAGATGCAGAGGGGTGGGCCTGTACTCAGGTCCCAGTGGCAGTCCTTGGGCCTGAATTTTTCTCTGTCCAGGATTCTTGCCTCCAAACCACTGTACTTGGTCGGCTGTGCACCTTTGGGAACCTTACAGTGCGTTTTGTGGGGACCAAGGTCCCAGAGCCCACCTGTCCACTAGCTACCCCTTGCACTTCCAGGTTCCGCTTTGATTATACCAATGAGAGGGCCCTGCGGCGCACTCTGCAGGAGGACCTGGTGAAGGACGTGCTGAGCAACGCACACATCCAGAACGAGTTGGAGCGGGAATTTGAGCGGATGCGGGAGGATCGGGAGGTGCTCAGGGTCATCTTCCCAACTGGAGACAGCAAGGTGCGTGTGGGTCGAAGTGCTGATGCTAGAGATGTGCCTCCCTGGATGGCTGTCCCCAGACACAGCCCTCCCTCCATTTCCCCCTCTCTCAGGTCGTCCTCCCCTGTAACCTGCTGCGGATGATCTGGAATGCTCAGAAAATCTTCCACATCAACCCACGCCTTCCCTCCGACCTGCACCCCATCAAAGTGGTGGAGGGTAAGTACCTGCTTAGGGGTCTCCAAGCCAGGCTAGGGGATAGGAGACTGCTGGGCCCTGGTCTAATGATCTCCTCACCTTTAATTGGTCCCCAGGAGTCAAGGAATTGAGCAAGAAGCTGGTGATTGTGAATGGGGATGACCC |
Task1_train_23358 | This alteration occurs within gene POLR2A (RNA polymerase II subunit A) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | ATCAGTAAGTGCATGAAAAGATACTCAACATCATTAGCCATCAGGGAAATGCAAATGAAACCAGAGTGATGTGCCACTTCACATGCACTAGGATGACTGTAATCCAAAACACAGATAATAACAAGTGTTGACAAGGATGTGGAAAAATTAGAACCCTCATACATTGCTAGTAGAAAAGGTACAACTGCTTTAGGAAGTTAAAGCAGTTACCATATGGCCCAGCAGTTTCGTTCCTAGAGAGATTATACACACACACACGAGAGAACAGAAAACATATGGCCACACAAACATTTATACACAAATGTTCGTATCAGTGTTACAGTAGCTAAGCAGTGAAAACAAGTGTCCATCCACTGATGAATGGATAGGCAAAATGTGATATGTCCATATGAGGGAACATCATTCAGCAATAAAAAGTAATGAACAGGCTGGGCCTACGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATGACTTGAGTTCCAGACCAGCAGCCTGCCCAACATGGTGAAACCCCCAACTCTACCAAAAATAGAAAAATTAAGTGTGGTGCTACATGCTTGCTATCCCAGCTACTTCGGAGGGTAAGGCAGGAGGATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGACTGCACCACCGCACTCCAGCCTGGGCGACAGAGGGAGACCATCTCAAAAAAAAAAAAGTAACGGACAGCCAAGCACAGTGGCTGATGTCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGAAGATTGCTTGAGCCCAGAAGTTCAAGACCACCCTTGGGCAACATGACAAAACCCCATCTCTACAAAAAATTTAGCCAGGTGTGGTGGAGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATACCTGAGGCCAGGAGGTTGAAGCTGCAATAGTGAGCTGAGATCATGCTACTGTACTTCAGCCTGGGCAACAGAGTGAGACTCTATCTCAAAAAAAAAAAATCTGTCAAGCCACAAAAAGACAGTGATAAGCCAGATGCACTGGCTCATAACTCTAATCTCAACACTTTGGGAGGCCGAGGCAGGAGGCTCACGAGAGCCCAGGAGTTTGAGACCAGCCTGGGCAGCATAACGAAATTCTGTCTTTGCCAGTGATGAACCTTAAATGTATACTTGCTTAATGGAAGAAATTAGTCTGAAAAAGTTAGATACTGTGATTCCAGTTAAGTTTAATTTCGTATGTGACTATCTCATAACACATACGGGGAGCTTCCTATTTAGCTAACTGTTATAAAATGAATATTTACGGAGTAATTTTAACATAGGTTTAGAAATTTGGATCTTGGCCGGGCGAAGAGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAGATACAAAAAAATATTAGCTGGGTGTGGTGGCACGCGTCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTAGGCGACGGTGAGACTCCGTCTCGAAAAAATTTGGATCTCAGATGGTATAGTAGCTTTCTTTGGATGTGCTGCATACCAGGTGCCAAATGGCGTCCTATAAATGGAAGCTCTTGTGTGAGGAAGGGGATGATCAAATAAGAGTTTTGTTTTTGTTAAGAGTCTGTCTGCCTTTTCCGAACTCATCTACCCATGTCCTTTAAGATTACAGTCCTGGCCCTGTGATAAGCCAGATGCAGATCCACATCGTACTCATTCACTGAAAGAGAGGCGTTGGCTTTGTCTGATGCTAGCTTTTTCTTAGGCGCATCCCGGGGAAATGGTGGGGGCTCTGGCTGCGCAGTCCCTTGGAGAACCTGCCACCCAGATGACCTTGAATACCTTCCACTATGCTGGTGTGTCTGCCAAGAATGTGACGCTGGGTGTGCCCCGACTTAAGGAGCTCATCAACATTTCCAAGAAGCCAAAGACTCCTTCGCTTACTGTCTTCCTGTTGGGCCAGTCCGCTCGAGATGCTGAGAGAGCCAAGGTAGGGATCAGGACTGCTGGGCTTTTTGGCCGGAAGAAAAGAAGGAGAACTCAACTGGGTATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACTAACCTGGCCAAGGTGGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTCGTGTGTGCCTGTAATCCCAGCTGCTAGTTGGGGCTGAGACAGGAGAATCGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAGATTCCATCTGAAAGAAAAAAAGAAAAAAAAGGAGAACTTTTCCCCTTGAATAAAGGGTTTTGGATTCCCTTGATAAGGAGGGTTAGAAGAGACGTTTAGAGCTACTCAGTTCCCTGTGTCATGGACTTCTGTCTCTTCCCAGGATATTCTGTGCCGTCTGGAGCATACAACGTTGAGGAAGGTGACTGCCAACACAGCCATCTACTATGACCCCAACCCCCAGAGCACGGTGGTGGCAGAGGATCAGGAATGGGTGAATGTCTACTATGAAATGCCTGACTTTGATGTGGCCCGAATCTCCCCCTGGCTGTTGCGGGTGGAGCTGGATCGGAAGCACATGACTGACCGGAAGCTCACCATGGAGCAGATTGCTGAAAAGATCAATGCTGGTAAGCCTAGGAGGGCTGGCCTGGCTCAGGAGCCCCGCTCTCTGGGCTACCACCTATCGTGTTCACCGCACTTGAGCCCCCAAAGAGCTACCCACCCTCACCCCCATGCATGTACCAGTTCCGCCCCTCCGAGGCATCCTCCAACTCTCCAGGTCCCCTCTGCACTCCCTTTCTCTTCTGAATGTTCTCCCTTCCCCTTTCCAGGGGGTTCTATGAAAAGAAAGTTTCTGTGAGGAGCGGGGAGCCAAAAGAGAGCCTTGCTCAGAGAGAGCTGCGAGTGGACAGTGGCTGGGGCCAGTCCCCTTAGCTGCAGCCTTTCTCATGGCTCCTCACCCCACCAGGTTTTGGTGACGACTTGAACTGCATCTTTAATGATGACAATGCAGAGAAGCTGGTGCTCCGTATTCGCATCATGAACAGCGATGAGAACAAGATGCAAGAGGTAATGGGGGTCCTAGAAGTCAGCGTGTCACATGTATAAAACGCATGAATCACGTTAGAGACCAAAGAAAAGAAGATGCAATCAACATTGAGGGGCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGCTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGTAACCCCGTCTCTACTAAAAATAAAAATTAGCCGGGCATGGTGGTATGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTC | ATCAGTAAGTGCATGAAAAGATACTCAACATCATTAGCCATCAGGGAAATGCAAATGAAACCAGAGTGATGTGCCACTTCACATGCACTAGGATGACTGTAATCCAAAACACAGATAATAACAAGTGTTGACAAGGATGTGGAAAAATTAGAACCCTCATACATTGCTAGTAGAAAAGGTACAACTGCTTTAGGAAGTTAAAGCAGTTACCATATGGCCCAGCAGTTTCGTTCCTAGAGAGATTATACACACACACACGAGAGAACAGAAAACATATGGCCACACAAACATTTATACACAAATGTTCGTATCAGTGTTACAGTAGCTAAGCAGTGAAAACAAGTGTCCATCCACTGATGAATGGATAGGCAAAATGTGATATGTCCATATGAGGGAACATCATTCAGCAATAAAAAGTAATGAACAGGCTGGGCCTACGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATGACTTGAGTTCCAGACCAGCAGCCTGCCCAACATGGTGAAACCCCCAACTCTACCAAAAATAGAAAAATTAAGTGTGGTGCTACATGCTTGCTATCCCAGCTACTTCGGAGGGTAAGGCAGGAGGATCACTTGAACCCAGGCAGCAGAGGTTGCAGTGAGCTGAGACTGCACCACCGCACTCCAGCCTGGGCGACAGAGGGAGACCATCTCAAAAAAAAAAAAGTAACGGACAGCCAAGCACAGTGGCTGATGTCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGAAGATTGCTTGAGCCCAGAAGTTCAAGACCACCCTTGGGCAACATGACAAAACCCCATCTCTACAAAAAATTTAGCCAGGTGTGGTGGAGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATACCTGAGGCCAGGAGGTTGAAGCTGCAATAGTGAGCTGAGATCATGCTACTGTACTTCAGCCTGGGCAACAGAGTGAGACTCTATCTCAAAAAAAAAAAATCTGTCAAGCCACAAAAAGACAGTGATAAGCCAGATGCACTGGCTCATAACTCTAATCTCAACACTTTGGGAGGCCGAGGCAGGAGGCTCACGAGAGCCCAGGAGTTTGAGACCAGCCTGGGCAGCATAACGAAATTCTGTCTTTGCCAGTGATGAACCTTAAATGTATACTTGCTTAATGGAAGAAATTAGTCTGAAAAAGTTAGATACTGTGATTCCAGTTAAGTTTAATTTCGTATGTGACTATCTCATAACACATACGGGGAGCTTCCTATTTAGCTAACTGTTATAAAATGAATATTTACGGAGTAATTTTAACATAGGTTTAGAAATTTGGATCTTGGCCGGGCGAAGAGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTAACCAACATGGTGAAACCCCGTCTCTACTAAAGATACAAAAAAATATTAGCTGGGTGTGGTGGCACGCGTCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTAGGCGACGGTGAGACTCCGTCTCGAAAAAATTTGGATCTCAGATGGTATAGTAGCTTTCTTTGGATGTGCTGCATACCAGGTGCCAAATGGCGTCCTATAAATGGAAGCTCTTGTGTGAGGAAGGGGATGATCAAATAAGAGTTTTGTTTTTGTTAAGAGTCTGTCTGCCTTTTCCGAACTCATCTACCCATGTCCTTTAAGATTACAGTCCTGGCCCTGTGATAAGCCAGATGCAGATCCACATCGTACTCATTCACTGAAAGAGAGGCGTTGGCTTTGTCTGATGCTAGCTTTTTCTTAGGCGCATCCCGGGGAAATGGTGGGGGCTCTGGCTGCGCAGTCCCTTGGAGAACCTGCCACCCAGATGACCTTGAATACCTTCCACTATGCTGGTGTGTCTGCCAAGAATGTGACGCTGGGTGTGCCCCGACCTAAGGAGCTCATCAACATTTCCAAGAAGCCAAAGACTCCTTCGCTTACTGTCTTCCTGTTGGGCCAGTCCGCTCGAGATGCTGAGAGAGCCAAGGTAGGGATCAGGACTGCTGGGCTTTTTGGCCGGAAGAAAAGAAGGAGAACTCAACTGGGTATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACTAACCTGGCCAAGGTGGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCCGGGCATGGTCGTGTGTGCCTGTAATCCCAGCTGCTAGTTGGGGCTGAGACAGGAGAATCGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAGATTCCATCTGAAAGAAAAAAAGAAAAAAAAGGAGAACTTTTCCCCTTGAATAAAGGGTTTTGGATTCCCTTGATAAGGAGGGTTAGAAGAGACGTTTAGAGCTACTCAGTTCCCTGTGTCATGGACTTCTGTCTCTTCCCAGGATATTCTGTGCCGTCTGGAGCATACAACGTTGAGGAAGGTGACTGCCAACACAGCCATCTACTATGACCCCAACCCCCAGAGCACGGTGGTGGCAGAGGATCAGGAATGGGTGAATGTCTACTATGAAATGCCTGACTTTGATGTGGCCCGAATCTCCCCCTGGCTGTTGCGGGTGGAGCTGGATCGGAAGCACATGACTGACCGGAAGCTCACCATGGAGCAGATTGCTGAAAAGATCAATGCTGGTAAGCCTAGGAGGGCTGGCCTGGCTCAGGAGCCCCGCTCTCTGGGCTACCACCTATCGTGTTCACCGCACTTGAGCCCCCAAAGAGCTACCCACCCTCACCCCCATGCATGTACCAGTTCCGCCCCTCCGAGGCATCCTCCAACTCTCCAGGTCCCCTCTGCACTCCCTTTCTCTTCTGAATGTTCTCCCTTCCCCTTTCCAGGGGGTTCTATGAAAAGAAAGTTTCTGTGAGGAGCGGGGAGCCAAAAGAGAGCCTTGCTCAGAGAGAGCTGCGAGTGGACAGTGGCTGGGGCCAGTCCCCTTAGCTGCAGCCTTTCTCATGGCTCCTCACCCCACCAGGTTTTGGTGACGACTTGAACTGCATCTTTAATGATGACAATGCAGAGAAGCTGGTGCTCCGTATTCGCATCATGAACAGCGATGAGAACAAGATGCAAGAGGTAATGGGGGTCCTAGAAGTCAGCGTGTCACATGTATAAAACGCATGAATCACGTTAGAGACCAAAGAAAAGAAGATGCAATCAACATTGAGGGGCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGCTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGTAACCCCGTCTCTACTAAAAATAAAAATTAGCCGGGCATGGTGGTATGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTC |
Task1_train_23359 | Gene LOC126862482, POLR2A (CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7414586-7415785| RNA polymerase II subunit A), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | GCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCGACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGCATGCCTGTAATCTCAGTTACTCAGGAGGCTGAGGCAGGAGAAATGCTTGAACATGGGAGGCAGAGGTTGTGGTGAGGCAAGATCACACCATTGCACTCCAGCCTGGGCAATAAGCGAAACTCCATCTCTAAAAAAACAAAAACAAAAAACTGAAGAACTCACTAACTGCTGAACTGCTGTCAGAGAACAGTTATAAAAGCATTGATAGGTCTTGATGGAATACAGTATATGGCCATTAGAAGTGATCACTGTCATGCCAGCAGCAGCCTAGATGAACACACAGTGAAGTGCCAGAGCAGGGAATGGTGTGTGCTCGGGTACAGCAGTTGGGAGGATATGACATGTACGTGGAGCCCGCCTCTCGCTAGGCGCAGGACTGCACAAGAGTGGAAGTTGTGACGGGGTGGTGGGATTTGGGTGCCTTTCCTTAGGCTTCTTTTAATATTGTAAAATCAGGATTAAAAGTCTCACTGGAGAATTGCAGGAACATGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTGGCATTGCACTCCAGCCCAGGCTGATAACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTCTCACTGGAACTGTGAGGGGCAGAGCCTGGTGACTGACTCGTTTGGCCCTCAAAGAGGCTGTAGTTGGAGGCGAGAGCTGGGGAAGAGACCAGAGGATGCCAAGTGCTGACCTCACTCTCACTGCAGGAGGAAGAGGTGGTGGACAAGATGGATGATGATGTCTTCCTGCGCTGCATCGAGTCCAACATGCTGACAGATATGACCCTGCAGGGCATCGAGCAGATCAGCAAGGTCAGCCATCCCCTCTGCCACCGCCTTCCTCCTCCCACTCCCACACTCCCCTCCCTGCCTACTCTGAGCACGCTGTCTTCCCACAGGTGTACATGCACTTGCCACAGACAGACAACAAGAAGAAGATCATCATCACGGAGGATGGGGAATTCAAGGCCCTGCAGGAGTGGATCCTGGAGACGGACGGCGTGAGCTTGATGCGGGTGCTGAGTGAGAAGGACGTGGACCCCGTACGCACCACGTCCAATGACATTGTGGAGATCTTCACGGTGAGCCCGTGTGTGCTGCCTAGCTGCCTTTCGTGGATCTCTGGCTCTCAGGCCCCTCATTCTGTGCTGTCCACTCAGGACTTTTTCTGCCTGATTCCATTTCTGAGTGTGGGATATCCTGGCTCCTGACACCCTCCCTGGATCTGGGTGGCGACAGAAGCAGGGAAGAGAGCAGAGTTGCTCAGTCCTGGCCCTCCCCTCCACTTCCCTCCCCTGTGCCAGGTGCTGGGCATTGAAGCCGTGCGGAAGGCCCTGGAGCGGGAGCTGTACCACGTCATCTCCTTTGATGGCTCCTATGTCAATTACCGACACTTGGCTCTCTTGTGTGATACCATGACCTGTCGTGGCCACTTGATGGCCATCACCCGACACGGAGTCAACCGCCAGGACACAGGACCACTCATGAAGTGTTCCTTTGAGGAAACGGTAACAGTGGAATTTCTGAATAGGGCAGAAGGAGGGAGTAGTGTGAGAAGAAGGGCACACACTTTGGGCAGCTGGGCTGTGGTGATGGGACAGTCAGGTGCTGTGTGTGGAGGGGTCTCATGGGGCCGGTCTGCTCTGTTCAGGTGGACGTGCTTATGGAAGCAGCCGCACACGGTGAGAGTGACCCCATGAAGGGGGTCTCTGAGAATATCATGCTGGGCCAGCTGGCTCCGGCCGGCACTGGCTGCTTTGACCTCCTGCTTGATGCAGAGAAGTGCAAGTATGGCATGGAGATCCCCACCAATATCCCCGGCCTGGGGGCTGCTGGACGTGAGTATGAGGCCCCAGCTGCGGTACCTGCTTGCGTCGGCGAGGCGGGGGGGCAGGCCATGGGTGCAAGGGTGTCACCAGTCCATGATTGCTGTTCTTGCTCCTCACGATTTCCTGTGTTCCTCTTTGCAGCCACCGGCATGTTCTTTGGTTCAGCACCCAGTCCCATGGGTGGAATCTCTCCTGCCATGACACCTTGGAACCAGGGTGCAACCCCTGCCTATGGCGCCTGGTCCCCCAGTGTTGGTGAGTAACCTGATCCAGGAAGAGGGCCCTCCAGGTGGTTCAGAGGTGGATAAGCTGGGATCGTGAACGGTAGCCATTGTTGGAACTCTGAAGGCCGCAGAGGGCTAGTGAAAGGTGGGGCAGGGAGAATTGGGGGCCTTTGGTCTCCCGCTCTGGCCTTAACTTGCTTCTCTCACTCTATAGGGAGTGGAATGACCCCAGGGGCAGCCGGCTTCTCTCCCAGTGCTGCGTCAGATGCCAGCGGCTTCAGCCCAGGTTACTCCCCTGCCTGGTCTCCCACACCGGGCTCCCCGGGGTCCCCAGGTCCCTCAAGCCCCTACATCCCTTCACCAGGTGAGTTGTCGCCATCTGTCAGGCCAGGTTTGTTTCCTCCACAGTTCTGGGTGAGTCTGTCCATTGCTCATCTCCTTTGTTGGCTGCTTCCCCACAGGTGGTGCCATGTCTCCCAGCTACTCGCCAACGTCACCTGCCTACGAGCCCCGCTCTCCTGGGGGCTACACACCCCAGAGTCCCTCTTATTCCCCCACTTCACCCTCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCACCCACTTCCCCTAGCTACTCGCCCACTTCCCCTAGCTACTCGCCAACGTCTCCCAGCTACTCGCCGACATCTCCCAGCTACTCGCCAACTTCACCCAGCTATTCTCCCACTTCTCCCAGCTACTCACCTACCTCTCCAAGCTATTCACCCACCTCCCCCAGCTACTCACCCACTTCCCCAAGTTACTCACCCACCAGCCCGAACTATTCTCCAACCAGTCCCAATTACACCCCAACATCACCCAGCTACAGCCCGACATCACCCAGCTATTCACCTACTAGTCCCAACTACACACCTACCAGCCCTAACTACAGCCCAACCTCTCCAAGCTACTCTCCAACATCACCCAGCTATTCCCCGACCTCACCAAGTTACTCCCCTTCCAGCCCACGATACACACCACAGTCTCCAACCTATACCCCAAGCTCACCCAGCTACAGCCCCAGCTCGCCCAGCTACAGCCCAACCTCACCCACAAGTACACCCCAACCAGTCCTTCTTACAGTCCCAGCTCCCCAGAGTATACCCCAACCTCTCCCAAGTACTCACCTACCAGTCCCAAATATTCACCCACCTCTCCCAAGTACTCGCCTACCAGTCCCACCTATTCACCCACCACCCCAAAATACTCCCCAACATCTCCTACTTATTCCCCAACCTCTCCAGTCTACACCCCAACCTCTCCCAAGTACTCACCTACTAGCCCC | GCAACAAGAGTGAAACTATCTCAAAAAATAAAAAAAACATTGAGGGGCCAGTCATACCCACCTAATTTAGGGATAGGGAATGGTGATTAGCAACGATTTTCAAAATCCACAGCACCGGCCGAGTAGATAAAACAGGTGGTGTTGAAATAGGAGATAGGAGTGCCTCCCTGTCACGCTGTCACTTGGCTCTCCTCCCCCAAGGCTCCTGCAGCTTGCTTTGCTTAGGGAATACAAGCCCCACCCCTGAGGCAGGGGCCAGACTTGGGGGCAGGTTGGGCAGTAGGCATTGCTATGTCCTAGGGGAAGTCGTGTGACAGCCATAACAAGACCCATGAAAAGGCTGGATCAGTGACTTCACTCCTGGGCATGGCTCCTGAGATACTTGTTTGGCACATGTTGGTACCTGGTGCTTTAGTAATAAAAACTGAAGAACTCAGGCTGGGCATGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATTACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCGACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATGAGCCGGGCGTGGTGGCGCATGCCTGTAATCTCAGTTACTCAGGAGGCTGAGGCAGGAGAAATGCTTGAACATGGGAGGCAGAGGTTGTGGTGAGGCAAGATCACACCATTGCACTCCAGCCTGGGCAATAAGCGAAACTCCATCTCTAAAAAAACAAAAACAAAAAACTGAAGAACTCACTAACTGCTGAACTGCTGTCAGAGAACAGTTATAAAAGCATTGATAGGTCTTGATGGAATACAGTATATGGCCATTAGAAGTGATCACTGTCATGCCAGCAGCAGCCTAGATGAACACACAGTGAAGTGCCAGAGCAGGGAATGGTGTGTGCTCGGGTACAGCAGTTGGGAGGATATGACATGTACGTGGAGCCCGCCTCTCGCTAGGCGCAGGACTGCACAAGAGTGGAAGTTGTGACGGGGTGGTGGGATTTGGGTGCCTTTCCTTAGGCTTCTTTTAATATTGTAAAATCAGGATTAAAAGTCTCACTGGAGAATTGCAGGAACATGGGAGGTAGAGGTTGCAGTGAGCTGAGATCGTGGCATTGCACTCCAGCCCAGGCTGATAACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTCTCACTGGAACTGTGAGGGGCAGAGCCTGGTGACTGACTCGTTTGGCCCTCAAAGAGGCTGTAGTTGGAGGCGAGAGCTGGGGAAGAGACCAGAGGATGCCAAGTGCTGACCTCACTCTCACTGCAGGAGGAAGAGGTGGTGGACAAGATGGATGATGATGTCTTCCTGCGCTGCATCGAGTCCAACATGCTGACAGATATGACCCTGCAGGGCATCGAGCAGATCAGCAAGGTCAGCCATCCCCTCTGCCACCGCCTTCCTCCTCCCACTCCCACACTCCCCTCCCTGCCTACTCTGAGCACGCTGTCTTCCCACAGGTGTACATGCACTTGCCACAGACAGACAACAAGAAGAAGATCATCATCACGGAGGATGGGGAATTCAAGGCCCTGCAGGAGTGGATCCTGGAGACGGACGGCGTGAGCTTGATGCGGGTGCTGAGTGAGAAGGACGTGGACCCCGTACGCACCACGTCCAATGACATTGTGGAGATCTTCACGGTGAGCCCGTGTGTGCTGCCTAGCTGCCTTTCGTGGATCTCTGGCTCTCAGGCCCCTCATTCTGTGCTGTCCACTCAGGACTTTTTCTGCCTGATTCCATTTCTGAGTGTGGGATATCCTGGCTCCTGACACCCTCCCTGGATCTGGGTGGCGACAGAAGCAGGGAAGAGAGCAGAGTTGCTCAGTCCTGGCCCTCCCCTCCACTTCCCTCCCCTGTGCCAGGTGCTGGGCATTGAAGCCGTGCGGAAGGCCCTGGAGCGGGAGCTGTACCACGTCATCTCCTTTGATGGCTCCTATGTCAATTACCGACACTTGGCTCTCTTGTGTGATACCATGACCTGTCGTGGCCACTTGATGGCCATCACCCGACACAGAGTCAACCGCCAGGACACAGGACCACTCATGAAGTGTTCCTTTGAGGAAACGGTAACAGTGGAATTTCTGAATAGGGCAGAAGGAGGGAGTAGTGTGAGAAGAAGGGCACACACTTTGGGCAGCTGGGCTGTGGTGATGGGACAGTCAGGTGCTGTGTGTGGAGGGGTCTCATGGGGCCGGTCTGCTCTGTTCAGGTGGACGTGCTTATGGAAGCAGCCGCACACGGTGAGAGTGACCCCATGAAGGGGGTCTCTGAGAATATCATGCTGGGCCAGCTGGCTCCGGCCGGCACTGGCTGCTTTGACCTCCTGCTTGATGCAGAGAAGTGCAAGTATGGCATGGAGATCCCCACCAATATCCCCGGCCTGGGGGCTGCTGGACGTGAGTATGAGGCCCCAGCTGCGGTACCTGCTTGCGTCGGCGAGGCGGGGGGGCAGGCCATGGGTGCAAGGGTGTCACCAGTCCATGATTGCTGTTCTTGCTCCTCACGATTTCCTGTGTTCCTCTTTGCAGCCACCGGCATGTTCTTTGGTTCAGCACCCAGTCCCATGGGTGGAATCTCTCCTGCCATGACACCTTGGAACCAGGGTGCAACCCCTGCCTATGGCGCCTGGTCCCCCAGTGTTGGTGAGTAACCTGATCCAGGAAGAGGGCCCTCCAGGTGGTTCAGAGGTGGATAAGCTGGGATCGTGAACGGTAGCCATTGTTGGAACTCTGAAGGCCGCAGAGGGCTAGTGAAAGGTGGGGCAGGGAGAATTGGGGGCCTTTGGTCTCCCGCTCTGGCCTTAACTTGCTTCTCTCACTCTATAGGGAGTGGAATGACCCCAGGGGCAGCCGGCTTCTCTCCCAGTGCTGCGTCAGATGCCAGCGGCTTCAGCCCAGGTTACTCCCCTGCCTGGTCTCCCACACCGGGCTCCCCGGGGTCCCCAGGTCCCTCAAGCCCCTACATCCCTTCACCAGGTGAGTTGTCGCCATCTGTCAGGCCAGGTTTGTTTCCTCCACAGTTCTGGGTGAGTCTGTCCATTGCTCATCTCCTTTGTTGGCTGCTTCCCCACAGGTGGTGCCATGTCTCCCAGCTACTCGCCAACGTCACCTGCCTACGAGCCCCGCTCTCCTGGGGGCTACACACCCCAGAGTCCCTCTTATTCCCCCACTTCACCCTCCTACTCCCCTACCTCTCCATCCTATTCTCCAACCAGTCCCAACTATAGTCCCACATCACCCAGCTATTCGCCAACGTCACCCAGCTACTCACCGACCTCTCCCAGCTACTCACCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCGCCCACCTCTCCCAGCTACTCACCCACTTCCCCTAGCTACTCGCCCACTTCCCCTAGCTACTCGCCAACGTCTCCCAGCTACTCGCCGACATCTCCCAGCTACTCGCCAACTTCACCCAGCTATTCTCCCACTTCTCCCAGCTACTCACCTACCTCTCCAAGCTATTCACCCACCTCCCCCAGCTACTCACCCACTTCCCCAAGTTACTCACCCACCAGCCCGAACTATTCTCCAACCAGTCCCAATTACACCCCAACATCACCCAGCTACAGCCCGACATCACCCAGCTATTCACCTACTAGTCCCAACTACACACCTACCAGCCCTAACTACAGCCCAACCTCTCCAAGCTACTCTCCAACATCACCCAGCTATTCCCCGACCTCACCAAGTTACTCCCCTTCCAGCCCACGATACACACCACAGTCTCCAACCTATACCCCAAGCTCACCCAGCTACAGCCCCAGCTCGCCCAGCTACAGCCCAACCTCACCCACAAGTACACCCCAACCAGTCCTTCTTACAGTCCCAGCTCCCCAGAGTATACCCCAACCTCTCCCAAGTACTCACCTACCAGTCCCAAATATTCACCCACCTCTCCCAAGTACTCGCCTACCAGTCCCACCTATTCACCCACCACCCCAAAATACTCCCCAACATCTCCTACTTATTCCCCAACCTCTCCAGTCTACACCCCAACCTCTCCCAAGTACTCACCTACTAGCCCC |
Task1_train_23360 | A sequence alteration has been identified in MPDU1, MPDU1-AS1 (mannose-P-dolichol utilization defect 1| MPDU1 antisense RNA 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; MPDU1-congenital disorder of glycosylation | TACTTGGGAGGCTGAGGCAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTCTCAAATAAATAAATATGAGATAATGCAGTCGGGAGAAGGGAGGGAGAGAATTTTATTAAATGTGACGAACTGCCCCCCCCCCCCCCCCAGCAGGAGAGCAGCAAAATTTATGCAAATCTTTGACGGGGTTTTCCTTGTCCTGCCAGGATTAAAAGCCATGAGTTTCTTGTCACATGCCTTTCTATGCCTTCCATGGCTGGGTCTCAGGGAGCCGGAAGCAGCTGCTGAGGAGGGATGAAAATGTCAGTGTGTGACGATGCCTCATGGGTTCACCCCCCAAAGCCTGGCACAGCTGGTGTTGGGTCTGCCGTGCCTCCCTTCCTTCCTCCTCTTGGGGCCACTGGCTGCTCCAGTTCCCCATCCGTGGCAAGCCGGTAGAGCCATTCATCCCCGCAGCCTTCTTCCTGACCCTCGTACAGTTTCAAATGCAGCAGACAGCCAAAGCAATGAGTGGGGGGCTGTGGAACTTCATTCCCAAAGGCAGCGCCAGTGGCTCCTGAGCAATGAGAATGTCCTGTCCTGTCCACCATATTCAAGGCCAGCAGAAGAGCCCGATTAAACCCTCGCAGCACCTGGCATGCTCCTATCCCACCTACAAGGGGTTGAATCAAGAAGGAGCAGTGGGTACTCTGACCTCCACTGGGGGCTCCTGGGAACAGCATGCCCCCCACACGGGGCCACCTGCCAAGCCTAACTTCATGCCCCCAGTACTTGAGATGAGGAGTGTCACTCTCAGGACAGCCAAGGTCCAGATTCCAGAAAGGACCTCCCAGATGGCCACAGCCTGCACCAGCAGTGAGCGCCAGTCCCACCCATTACAGCTGGCTACGGCGCAATCCCTGGGAGCCAGGATGAGCAGCACCCCCCAGCCGTAGGAGCCCCAGGAGGCTTCCGGCCTCCAAGGCCCAGAGACTGCCCCACAAGGGCAGCCCTCACCTGGCAGGGCCCCAGCAGCCCCACCTCTGCCTGCAGACATCCGTGTGACCTTGTAGACTTTGGAGGGGGGCCGCCAAAGGGCTGATCCACAGCGGAATGACGCACGGGTGGGCACCGTGGGTTGGCGTCCCGGCGGTCGGTAACGAAGCACAACGCCCCCACCAGGTAGTCCAAGGTGCCCTTTCCCAAGCAGCGCTGCAGGGTCCACTCGGCCTCGCCGAAGTCTCTGCCCAGCACGTGGTGCGCCCTCGGGCCAGCGGGGAGGGGGCGAATCCCGGGACTGCCTCGCCAGGCCTCGGCTCCCCGGAGACTCTTGGGGGTCTGGGCCCCAAGGGTGATTCAGGTGCTGCCCTTCCCCGACCTGGGCTCGCCTCCCCCACCTCCTCCTCTGCTTCACTGTCCCGGGCCCAGCAGTTGCCGGCGCACTCATGCTCCGAGGCCTGAGCCAACCGGAGGCGAGACAAGCACAGGGCCCTGCGCGCAACCCGGCACCTAAGGAGGCCTGCCCGGTGCAGACTCTCCTGCTCCCACCGGCGCCCTTCCCTCTAGAGACGCTGAGAGAACGGGAGCTAGTAGCGCCCCCACCCAACGCCACCTCGGAGACTCCGGCTCCTTCTCTCTCAACTTCGAACAATACAAAGTGTGCTAGGAGAAGACAAGATGGCGCCCAGCAGGAGGAGCGGAGAAAGGCAGGGGTGTAAATCTGGCTTCCAAACTGGAAGCGTCAACAAAGGCGTGGGAGGTCTAACCGCGCAGGCGTGCAGCTTCGGCAAGCTTTACAATTCCAACAGCGCGTCCAAAACGTGGTCCCTGACTGAGACTTATTTTACGCCACTAGAGTGAGGGTGGGTAGCGTCAGAAAGAGCGGGGCACGGGGCGGGCCAGCTTCGCCGCGGGAAAAGAACGGGAGGCGGAGTGTCCGCAGCGCGCACGCGCAACGAAAGTCAATGGCGGTCTGGAGAGACTGGCGGAAGCTAGCTTTGCAATATGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAGAAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGA | TACTTGGGAGGCTGAGGCAGAACTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGTCATCGCGCCACTAAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGTCTCAAATAAATAAATATGAGATAATGCAGTCGGGAGAAGGGAGGGAGAGAATTTTATTAAATGTGACGAACTGCCCCCCCCCCCCCCCCAGCAGGAGAGCAGCAAAATTTATGCAAATCTTTGACGGGGTTTTCCTTGTCCTGCCAGGATTAAAAGCCATGAGTTTCTTGTCACATGCCTTTCTATGCCTTCCATGGCTGGGTCTCAGGGAGCCGGAAGCAGCTGCTGAGGAGGGATGAAAATGTCAGTGTGTGACGATGCCTCATGGGTTCACCCCCCAAAGCCTGGCACAGCTGGTGTTGGGTCTGCCGTGCCTCCCTTCCTTCCTCCTCTTGGGGCCACTGGCTGCTCCAGTTCCCCATCCGTGGCAAGCCGGTAGAGCCATTCATCCCCGCAGCCTTCTTCCTGACCCTCGTACAGTTTCAAATGCAGCAGACAGCCAAAGCAATGAGTGGGGGGCTGTGGAACTTCATTCCCAAAGGCAGCGCCAGTGGCTCCTGAGCAATGAGAATGTCCTGTCCTGTCCACCATATTCAAGGCCAGCAGAAGAGCCCGATTAAACCCTCGCAGCACCTGGCATGCTCCTATCCCACCTACAAGGGGTTGAATCAAGAAGGAGCAGTGGGTACTCTGACCTCCACTGGGGGCTCCTGGGAACAGCATGCCCCCCACACGGGGCCACCTGCCAAGCCTAACTTCATGCCCCCAGTACTTGAGATGAGGAGTGTCACTCTCAGGACAGCCAAGGTCCAGATTCCAGAAAGGACCTCCCAGATGGCCACAGCCTGCACCAGCAGTGAGCGCCAGTCCCACCCATTACAGCTGGCTACGGCGCAATCCCTGGGAGCCAGGATGAGCAGCACCCCCCAGCCGTAGGAGCCCCAGGAGGCTTCCGGCCTCCAAGGCCCAGAGACTGCCCCACAAGGGCAGCCCTCACCTGGCAGGGCCCCAGCAGCCCCACCTCTGCCTGCAGACATCCGTGTGACCTTGTAGACTTTGGAGGGGGGCCGCCAAAGGGCTGATCCACAGCGGAATGACGCACGGGTGGGCACCGTGGGTTGGCGTCCCGGCGGTCGGTAACGAAGCACAACGCCCCCACCAGGTAGTCCAAGGTGCCCTTTCCCAAGCAGCGCTGCAGGGTCCACTCGGCCTCGCCGAAGTCTCTGCCCAGCACGTGGTGCGCCCTCGGGCCAGCGGGGAGGGGGCGAATCCCGGGACTGCCTCGCCAGGCCTCGGCTCCCCGGAGACTCTTGGGGGTCTGGGCCCCAAGGGTGATTCAGGTGCTGCCCTTCCCCGACCTGGGCTCGCCTCCCCCACCTCCTCCTCTGCTTCACTGTCCCGGGCCCAGCAGTTGCCGGCGCACTCATGCTCCGAGGCCTGAGCCAACCGGAGGCGAGACAAGCACAGGGCCCTGCGCGCAACCCGGCACCTAAGGAGGCCTGCCCGGTGCAGACTCTCCTGCTCCCACCGGCGCCCTTCCCTCTAGAGACGCTGAGAGAACGGGAGCTAGTAGCGCCCCCACCCAACGCCACCTCGGAGACTCCGGCTCCTTCTCTCTCAACTTCGAACAATACAAAGTGTGCTAGGAGAAGACAAGATGGCGCCCAGCAGGAGGAGCGGAGAAAGGCAGGGGTGTAAATCTGGCTTCCAAACTGGAAGCGTCAACAAAGGCGTGGGAGGTCTAACCGCGCAGGCGTGCAGCTTCGGCAAGCTTTACAATTCCAACAGCGCGTCCAAAACGTGGTCCCTGACTGAGACTTATTTTACGCCACTAGAGTGAGGGTGGGTAGCGTCAGAAAGAGCGGGGCACGGGGCGGGCCAGCTTCGCCGCGGGAAAAGAACGGGAGGCGGAGTGTCCGCAGCGCGCACGCGCAACGAAAGTCAATGGCGGTCTGGAGAGACTGGCGGAAGCTAGCTTTGCAATACGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAGAAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGA |
Task1_train_23361 | This alteration in MPDU1 (mannose-P-dolichol utilization defect 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; MPDU1-congenital disorder of glycosylation | GTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAA | GTGGGACTTGCTTCACGGTGAGTTTTATTCAGCATCCGATCCAAGTCCTACTCGAGTGACCGTGGGCCCTTAGTCCAAGCCTTGATCGGCGACTAAGTGACGGCAGTGACTGCCGCCATGCCGAGCTGGACGGAAGTCACTTCTGAGAAGGGCGGAAGTGTCTCGGGCTCCTTAGAGGGAGGACACCATATTAGTGCCAGTGGGGAAGTCACCGGGTGGAATTACTTCTTTGTGGAGTTTGTGCTGTAGCGACAATGAAAAACGAAGAGTCAACTTTTATAAAACAAAATAAAAATTAAGTCAAATCATGCCAACCTTTATTAGATCGCTAGCAGGGTTAAACTTAATTCAAAGCCCCTGATGAATCGGGCCTTCATTGCACCCCCAAAGGCTCCGCCACCCTGATTGCTTTCTTTCCAGCCTCCAGGTTTGCTCATAGTCTGATTTCGGAATAATTTGCCTCCCTTCCTTTTTCTGATTGCGAGACAGCTCCACAAGGGTCACCGTCAGACCGTTTGGGGAGCGTCAGTCTGCCCCTGTCAGTTCATGGTACCTCTCTTGAGCTCGTGGGGCACTTTGTTTTAGCCGCATTCATGACCCGTGAGAGTCAGACTCCCACTAGACCAAGTTCCTTGAGGGGAAGGCTTCAAGGCTAGAGAAGTTGTGGATGGCCAGGGCATAAAAGCAAGCCTTGAAAGGGTAAGGTTTAGTCCCTGAGTAGGGGCCAGGGACAGTCAGAGTGTTCAAGAAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTCGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAA |
Task1_train_23362 | An alteration has been detected in MPDU1 (mannose-P-dolichol utilization defect 1) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; MPDU1-congenital disorder of glycosylation | AAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAATGACTCAGGCAGGGCCCCAGGGTGGGGTGAGGAGGTTCCTGCTCTGGCAGGTCTAGGCGGAAGGGAGTGGAGATGGGGCTGGTTCCTGCTGCAGTGAGGGGAACAGATGGGACAATAAAGACTGGAGACTCAGTTGAATAATACAAAACTGTTTAATACTACCAAAAATATAATTGTATGTTGTGCGGCTCTCCCTGGCTATCATGGGAGGACTGCAGGCTGCCTCTGAACTGTAGTCCAACAGGAGAAAGGGTTGACAGCCTGGGGTAGGGGATGCTGCTGGATTAAAAAAGGAGGATGAGGCCCGTCCCGTGAGGTCTGCGTCCATGAGGGTTAGAGGTGGGTTAGGGGCATGGGGGCACCAGCAAGGGGAGGGTTGTATGGAGTGGGAGAGCCAGGGGGCAGGTAGTGGGTATAGGTGGGCAGCAGTTCCCCCTGGAGCCTAGGGTCACTCTGAGGGAGGGAGCACGGTGAGGGGGCTTCCAGTTTGCAGTGGGAAGAGCTGCAGAGAGAAACAAGAGGTTAGAGGGCACTTCCCTGGGTTGGAGGTGAGTCTGGCCAGTTCTGGGCAGACAGGGTAGAGCGTGCCACCCACCCAGCCCTGGCTACCCAGCCCGCTGGGCGCAGCAGGCATGGAAGCCGACCCCGGGATGGAGAGCCCGCGGCCCTGTTGGGGCACGCTCGGGAGCGGGCTTGCGTGCTGCACGGCTGTTTTCCTCTTGGGGAGTCAGGCCAGGAAAGGGCAGAA | AAAGAGTGGTATGGGGCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGGCGTTCGAGACCAGCCTGGCCAATAGGGCGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTTGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGACAGAGGTTACAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAATTAAAATAAGAAAAAAAAAATGGTATGAAGACTTGTCTTTGGAGAGAGAAGACATGTGAAATGGGGCACCCATTGGCCCAGAGAAGGGAAATAAAGGATCAGAGAGCTCTTGGGCATTTCTCAGCTTTATATGGGGAAGCAATGGAGAGCCGTGGAGGTCAAGCCAAGTTTGGGTGTTAATTTATAGGGAATGGAAGATTGGATGTGGGGGGTGGTAGGCATCGGAGAAAAGCTGTTTTGGAAAGTAACAGTCTGGGGCCCGGTGCGGTAGCTCGAGCTTATAATCCCAGCACTTTAAGGAGGCTGAGGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAACCGGGCATGGTGGTGTGTGCCTGTAATTCTAGCTACTTGGGAGGCTGAGACAAGAGAATTGCTTGAACCCAAGAGGCAGAGGCTGCAGTGGGCTGAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAGTGTGGTGGTTTGGAGCAGGAAGGACCAGGACTTTCTCACTGCCCTCCGCCTCTCCTCCCCCCAAGACAATGCAAGACCCTGGTGTGGGTAAGGGGGCTCGGGGAGAGCCCACAGGAGCTTCAAGCCCTGGCCTGGGTTTCAGACATCTCCTGTCTGCTTACCCTTTTTTCTCTCCTCAGTCCCCTGCCTCAAGATTCTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAGGTATGTCTCTTATCTTTCTTTCCAGCTGTTGGGTTGGGGTGGAGGTGCTGAGAGGCCATCAACTGTGTGGGTGTTCGTTCTATAGCTGTTGTGTTGCATCCCAAAGAATGGAGAGTCCTCAGTCCTACTTTTCTCATCTTTCCCCTAGTAAAGCTGCCCCAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATGCTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTCAGGTGAGGGGCCCACCCTTCCACCCCAAGGGTAATACCCACAACTCTAATGGGGATTAAGGTGAAGGAGGTTACAAGGCAGCAAAGTGGCCGGGCCCAGTGGCTTGCACCTGTAACCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAACTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGATGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCAGTCTTAAAAAAAAAAAAAAGGGACAAGGGGCTAGGAAAGTTTTAAGCCCTTTTAGAAACCTAATCATCACCAGTGGAGGTGATCTTGAGAAGGGGTGAGCATCCCGAGAATGGCCACGATTCAGAATGAGCCAGTCCCGTGTGGGGGCTGTAGAGAAGCGTGATCAGAGCATAGTGTCCCTGGATGGATGGGCTATGGAGGCTTTCCCTGCCTCTTTCTAGGCCCGCCTTTCTTCCTCCCAACTCTTGACTCTGCAGCTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCCGGTCATGCACTACAGAGGACAGACTGTGAAAGGTGCTGGGGACTTACCCAAGAGCAGGCTGTGTGGTTCCTGGGAACCCTGCTGGGAACTCAGGTCTGGGAAAGCCAAATGATGTGGAGAGATTGACAAGGACTCCTGTCTCCCCACCCCTAGGTGTCGCTTTCCTCGCTTGCTACGGCCTGGTCCTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCCAATGTGCCTGCTGTGGTGGTGGGGAGGGTGGGTACCAGGAGCAAGGGACAAGATGTTGTGGGGGCAGGGTGGGGGGGAAGAGTAGAAGATCAAAGTGTGGGGGTGTTGTACTTGGGGGAGCATGGGAAGAGCTCAGGTGACAGAGCCAAAGGTCTCAACTCCTCCCCTAGCTTCTCCAGGCAGCCACCAACTACCACAACGGGCACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGAATCTTCACTTCCATTCAGGTGAGTGCAACATCTTCCTTCTAGAAGGCACTAAAACCTCGTCTTACTTCTCCCAGCTAAGGGCCAAAGCTGCCCCGTGAGGAACCTTTGTCCATAAGGGAACCTTTCTTGAGCTATGCTGAAGGGTAACCCTGGCTCTGTCTCTTGCAACCAGGAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCCTCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCCCACAAGCAGAAAAAGGCGCAGTAGAGCCAGCTACTGGAGTCATTCCGTTTCCACTCATTCACCCAACCTCAGGGTTCTCCCCATCTGAGCCAGCCTGCTGGTGTGACTTACTCATCCTCCATTCCTCTGCACTTGCAGACTTTCTGAGCCAGGGTTTTCTTTTAGTGGAAACAAATGGTTGATGGATCCAGATCCTTAGAAAAGGAGAGGATGGGGGTAGAGTCTCCCAAGCCAAAATTTTGACATTTGAGTGCTTTCGTAAGCCCTGTACATGTACTATTAATTCAGTCATTCAGCCAAGCCTCCTCCTCTAGCAGCAATTTCCAGCTGTGTAACACTATCCTGGGCAAATGTTTTACCCTGTCCTCCAGCCTCCCTGCTTCCCTTCTGGCCCTGGAAGACTGAGTCTGGACGGCAGAGTGGAGGGACTGGGAGGCTGTGGCTGCCTCCCTCCCTCAGCCCGGCTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGGGGGACGGAGAATGACTCAGGCAGGGCCCCAGGGTGGGGTGAGGAGGTTCCTGCTCTGGCAGGTCTAGGCGGAAGGGAGTGGAGATGGGGCTGGTTCCTGCTGCAGTGAGGGGAACAGATGGGACAATAAAGACTGGAGACTCAGTTGAATAATACAAAACTGTTTAATACTACCAAAAATATAATTGTATGTTGTGCGGCTCTCCCTGGCTATCATGGGAGGACTGCAGGCTGCCTCTGAACTGTAGTCCAACAGGAGAAAGGGTTGACAGCCTGGGGTAGGGGATGCTGCTGGATTAAAAAAGGAGGATGAGGCCCGTCCCGTGAGGTCTGCGTCCATGAGGGTTAGAGGTGGGTTAGGGGCATGGGGGCACCAGCAAGGGGAGGGTTGTATGGAGTGGGAGAGCCAGGGGGCAGGTAGTGGGTATAGGTGGGCAGCAGTTCCCCCTGGAGCCTAGGGTCACTCTGAGGGAGGGAGCACGGTGAGGGGGCTTCCAGTTTGCAGTGGGAAGAGCTGCAGAGAGAAACAAGAGGTTAGAGGGCACTTCCCTGGGTTGGAGGTGAGTCTGGCCAGTTCTGGGCAGACAGGGTAGAGCGTGCCACCCACCCAGCCCTGGCTACCCAGCCCGCTGGGCGCAGCAGGCATGGAAGCCGACCCCGGGATGGAGAGCCCGCGGCCCTGTTGGGGCACGCTCGGGAGCGGGCTTGCGTGCTGCACGGCTGTTTTCCTCTTGGGGAGTCAGGCCAGGAAAGGGCAGAA |
Task1_train_23363 | Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG |
Task1_train_23364 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Li-Fraumeni syndrome | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG |
Task1_train_23365 | A variant was discovered on Chromosome 17, affecting TP53 (tumor protein p53). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Li-Fraumeni syndrome 1 | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG |
Task1_train_23366 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Neoplasm | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG | ATATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTTCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAG |
Task1_train_23367 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Li-Fraumeni syndrome | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCACTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG |
Task1_train_23368 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neoplasm | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG | ATACAACATTTTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCACTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGG |
Task1_train_23369 | With a mutation on Chromosome 17 in gene TP53 (tumor protein p53), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCCGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC |
Task1_train_23370 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Li-Fraumeni syndrome | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCCGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC |
Task1_train_23371 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Li-Fraumeni syndrome 1 | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC | TTATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCCGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTC |
Task1_train_23372 | A variant found in Chromosome 17 affects TP53 (tumor protein p53). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Li-Fraumeni syndrome | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGCCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA |
Task1_train_23373 | Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary cancer-predisposing syndrome | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGCCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA |
Task1_train_23374 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Li-Fraumeni syndrome 1 | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA | ATTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGCCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAA |
Task1_train_23375 | This alteration occurs within gene TP53 (tumor protein p53) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Li-Fraumeni syndrome 1 | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTATCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC |
Task1_train_23376 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Li-Fraumeni syndrome | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTATCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC |
Task1_train_23377 | A mutation in TP53 (tumor protein p53), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neoplasm | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTATCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC |
Task1_train_23378 | A change on Chromosome 17 affects gene TP53 (tumor protein p53). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Li-Fraumeni syndrome | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTTTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC |
Task1_train_23379 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTTTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC |
Task1_train_23380 | Consider a variant on Chromosome 17 in gene TP53 (tumor protein p53). Determine its clinical classification and disease relevance. | Pathogenic; Neoplasm | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC | TTACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTTTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAAC |
Task1_train_23381 | Given this variant in gene TP53 (tumor protein p53) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Li-Fraumeni syndrome 1 | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT |
Task1_train_23382 | The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT |
Task1_train_23383 | A genetic alteration is present in TP53 (tumor protein p53) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Li-Fraumeni syndrome | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT |
Task1_train_23384 | Mutation context: Chromosome 17, Gene TP53 (tumor protein p53). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial cancer of breast | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT | TACTATAAAAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCACTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACT |
Task1_train_23385 | Chromosome 17 houses a mutation in gene TP53 (tumor protein p53). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Li-Fraumeni syndrome 1 | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGTACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA |
Task1_train_23386 | An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Li-Fraumeni syndrome | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGTACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA |
Task1_train_23387 | A genomic change on Chromosome 17 affects TP53 (tumor protein p53). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA | AAAGGGCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGTACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACA |
Task1_train_23388 | Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Li-Fraumeni syndrome | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGCCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT |
Task1_train_23389 | This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT | GCTTTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGCCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGT |
Task1_train_23390 | A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Li-Fraumeni syndrome | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCAAAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG |
Task1_train_23391 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCAAAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG |
Task1_train_23392 | The following genetic variant occurs in TP53 (tumor protein p53) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Neoplasm | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG | TTGTGTTAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCAAAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAG |
Task1_train_23393 | Gene TP53 (tumor protein p53) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glioma susceptibility 1 | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Task1_train_23394 | This genomic variant is located on Chromosome 17, within the TP53 (tumor protein p53) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Bone osteosarcoma | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Task1_train_23395 | Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hepatocellular carcinoma | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Task1_train_23396 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Adrenocortical carcinoma, hereditary | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Task1_train_23397 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Carcinoma of pancreas | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Task1_train_23398 | The gene TP53 (tumor protein p53) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Choroid plexus papilloma | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Task1_train_23399 | Here’s a variant in TP53 (tumor protein p53) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Colorectal cancer | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA | TAGATGACTTTGCCCAACTGTAGGGTAACTTAAATGCTCTGAACACGTTTCAAGTAGGCTAGGGCTGAGTGTGGTAGCTCATGCCTGTAACCCCAATACTTGGGGAGGCTGAGGTGGAAGGATTGATTGAGCCCAGGGGTTTGATACCAGCATGGGCAACGTAGCAAGACCTTGACTTCACAGAAAATAAAAAATTAGCTGGGTGTCGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGGTGAAATCACCGGAGCCCAGGGAGGTCAAGGCTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAGCCTGAGTGACAGAGTGAGACTCTGTCTTTAAATAAATAAATAAAAATTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACATGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTAGCAGGCGCTTGTAGTCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTGAGTCTCAAAAAAATAAAATAAAATAAAATAAAAATAAATAAATAAAAATTAGCCAGGCATGGTGGTGCAGGCCTGTAGTTGAAGCAACTTGGGAGGCTGAGCTGGGAGGATGGATGGAGCCTGGGAGGTGGAGGCTGCAGTGAGCTGTGACTGCACTACTGCACTCTATCCAGCCTGGGTGACAGAGCAAGACCTTGTCTCAAAAAAGTAGGCTAGAGACCAGCCTGGGCAACATAGTGAGACTCTATCTATCTACAAAAAATTTTAAAAATTAGCTGGGTATGGTGGTGTATGCCTGTGGTCCTAGCTACTGGGGAGGCAGAGTTAGGGGGATTGCTTGAGCCCAGGAGGGTATAATGAGCTATGATCACATCACTGTAATCCAGCCTGGGCAACAGAGCAAGATGCTGTCTCCATTAAAAATAAAATAAAAGTAGGCTAGGCAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAAAAAAAATAAATAAATAACAAAAAATTAGCTGGGCGTCGGGGCAGGTGCCTGTAATCCCAGCTACTCAGTGGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAAAAAAGCAGGCTAGGCTAAGCTATGATGTTCCTTAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTCCACTTGATAAGAGGTCCCAAGACTTAGTACCTGAAGGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAGGTGATAAAAGTGAATCTGAGGCATAACTGCACCCTTGGTCTCCTCCACCGCTTCTTGTCCTGCTTGCTTACCTCGCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACAAGCACCTCAAAGCTGTTCCGTCCCAGTAGATTACCACTACTCAGGATAGGAAAAGAGAAGCAAGAGGCAGTAAGGAAATCAGGTCCTACCTGTCCCATTTAAAAAACCAGGCTCCATCTACTCCCAACCACCCTTGTCCTTTCTGGAGCCTAAGCTCCAGCTCCAGGTAGGTGGAGGAGAAGCCACAGGTTAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTGTATTTTTCAGTAGAGACGGGGTTTCACCGTTAGCCAGGATGGTCTCGATCTCCCAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCAAGCAGGGGAGGCCCTTAGCCTCTGTAAGCTTCAGTTTTTTCAACTGTGCAATAGTTAAACCCATTTACTTTGCACATCTCATGGGGTTATAGGGAGGTCAAATAAGCAGCAGGAGAAAGCCCCCCTACTGCTCACCTGGAGGGCCACTGACAACCACCCTTAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCAGACCTCAGGCGGCTCATAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCCAAATACTCCACACGCAAATTTCCTTCCACTCGGATAAGATGCTGAGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAACCAGCCCTGTCGTCTCTCCAGCCCCAGCTGCTCACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAGTTGAAAGTCAGGGCACAAGTGAACAGATAAAGCAACTGGAAGACGGCAGCAAAGAAACAAACATGCGTAAGCACCTCCTGCAACCCACTAGCGAGCTAGAGAGAGTTGGCGTCTACACCTCAGGAGCTTTTCTTTTTTTTTTTTTTTTTTGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGCACAGTGGTGTGATCACAGCTCACTGCAGCCTCCATCTCCTGGCCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTGGCTGGGACTATAGGTGTGCACCACCATGCCTGGCTAATTTTTTGTATTTTTTTGTAGAGACGAGGTTTCATCATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAGGTGATCTGCCTGCCTTGGCCTCTTTGAGAGTGCTGGGATTGCAGGTGTGAGCCACCAAGCCTGGTCAGGAGCTTATTTTCAAAAGCCAAGGAATACACGTGGATGAAGAAAAAGAAAAGTTCTGCATCCCCAGGAGAGATGCTGAGGGTGTGATGGGATGGATAAAAGCCCAAATTCAAGGGGGGAATATTCAACTTTGGGACAGGAGTCAGAGATCA |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.