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_19400
|
This variant impacts the gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Intraventricular hemorrhage
|
TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAGGGAATGCTTGGCACTCACCTTCTGGCCCTGCACACCTGGGTTCCCAGGTAAGCCATTAAATCCCGGGCGACCTGGAGTCCCCGGTGGCCCCATGTCTCCAGGTAAGCCGTCAACACCTGTTTTAAAGAGTCAAAAAAAAAAAACAAACAAACAATCATTGCGATTACAATGCCGTTCCCCACTTTCTTCACTTTTAGTCTTGCCCAGAGATGCCGACCTGATCTGAGAAGGTCAACTGTGGAGGCCTTCCGAGGTGGCTGGAAGAGGCCAGGGGAGACTGCCCGGCAGAGGGGTCAGGTGCGTTGCTGTCTCTTCCAGCACCTCTGCCCTCCTCTTTCTCTCTCCTTTCCTTTTCTTCTGCTCTCTTCAAACTTTTCTTTCCCATCCTACTCTCCCCAAACAAAACAAATATACCCCTTGGCGCCTGCAGGTGAGAAGGGCACTTTATTCATCTACTCAAGGTGTGGTTGGGGGGGCAGGTCACCACCATCACTTCATTAGAAATGCAGACCCCAGGGGTCTATAAGGCAGGCCCACTTTTCAAGATCCCACAGGATCTGTCACTGAAGGACACCTGCCCACTGTCTGGGCCCCGCTCTGGAAGCTCTGATGGGCTATGAAGCTGGCCAGCCACTAGTTCAGACCCTTTGTATGCAACACTGAGGTCTCCGATGTCCAGTAATTTGTAAGTTTGCAGTGGCACACACCCGAATCACATCTTCTGTGAGGCTGCTGCACAGATAGGGTCTGTCCTCCTCACTGCCACAAAGCCAAGCAACTCCATGTCACATGGGTCACGGCCTCAGGTGAAGGAGGCACTGTGTGAGGCAATGGTGGAATGTGAGGGAGTTGTGAGTGTGACGAGGCCTCAGCGCCTGGCCCTCCTGAACAGGGATGCTCTGCTGCCCGCCCAGCCTGAGGGAAGCAGCCGTGGTGTGGGTGGGCGTTGCGTGGCTGTCAGAGGAAAGGGGCTGCCGTCTCCTGTTCTCCAAGCTAGCAGCCTACAGCAGTGAGGGTGGATGGGGCCTGGAGCCTCTGGGTAAGAAGCCTGGGAGCCTGGAGGAGATTTCAACCTAAGTGTGGCTGCGTGGTGTGTTGTACGAAGACAAACTTCCTTACACAACACGTCCCTTTTGTGCTCACAGCACCTTCTCCTCAGTCCTGAACAGAAGGTCTGTGATGACAAGTGTGTTGATCAAGGTCTACCTGAGGGACAAGTAGACCTAAGAAATGTGAAAAGCAGGGGGAAAAGAAATTCCCTCCTCACCTCCTTCCAGTTTTCAGCAGGAAGTGACGGCTCTAACACCGGTAGGACTCCTCCCCTCGGAGCAAAGGCCCCTCCCTGCGACTCCTTGCACCTCCCCCTGGGCGCTCCCCCAACTCCCAACCCACCCTGGCTGTGTTCAGGTGGACTGCGAGTCTTCCTCACGGATAAAAAGCAAACACCTGGAGGGTGGGTTTCAGCGGGCACCATTGGTGGCAGTGCCCATGCAGCTTGCACAGCCTTAGCGTCCCATCTTCCCAACCAAACCCTACACTGCAAGGCAGCTATTGCCTAGAAGCTCCTGAAATCACTGGGCTCAGCACTGCTTGGGCTCTTCTGAAAGCCTCCCTGAACAGCGGTCACCAGCTTCTGTGGTGTTTTGATGTCTACCACCTCCTCTTTTCTCACAGAAGTCACAGGTGGACCAAAGGCTCGGGTCCGTCTGGCAGGGTTACCTTTGGGGCCGGGGGGCCCTGGAAATCCAATGCCTGGCTGGCCCACAGCGCCCTTCTCTCCTGGCAGGCCTGGCCTTCCTGGGGTTCCGGGAAAGCCTCGGTCTCCTGTGGTGAGAAAGACCAACAGTCAGCGTGAGAAAAACGTGAGGAAACTCTCGTGGTATCCCGGTGAGCTGGAATTCCAATCGTACCTTGGGGACCTGGGAAGCCTGGGGACCCCGGCAGTCCTTCTGCTCCAGGGGGGCCTGGTAAAGGAACAATTTTTCCTGGTTCACCCTTTGGACCTAGAGGAAAAAAAGAGCAAAGACAAACGATGAAGGAATGAGGACCACACGGAACACAGGGAGGACACGCAGTGGGTGGGCTGCACGCCACATCCTACCCAGCACCACGAGTGCCCGGAGAGCAGAGCCTCTGCCTGTGTTCTCCACTTCTTCCCTTGGTGTTTCTAGGATCTTTCACAGAGAGCTACGCTTCTCCCCATGCGTTTGCATGTCCAAAATGACCAAGATGTTTGTTGGACACAAGAATCCCTTAAGAGTCCACAATTAAGAGTCACAAGAAGCTGAAAAATCTACAACAACAACATGTGAGGTGGCTCTAGGTGATTTCTTAGTGAGCCGGTCTCAAAAAGTCAAAATACTTTTGCTGTTCTCTCTCAATTTACCAAAGTCTAAGTTGCTTTGAGATTGACCTAAATTACGGTCGTTTGGTGGGAAATTATCCAAACAACATGATCCGCGGGTGATTACGAACGATCCATTATCTGTAATGGTGCAGCTGGAGAGCTCTGCGCTCACTTGAGCAACACAGGCAAAACCATCCTTCCTCCCAAGCCAGGAAGCACAGCCCCGGCCCTCTGGGCACTCATGCCTAGGAGAGCCACCGGAGTGTCAGGGTTTCGCTGTTAAGAAAGGACCAAAGGCTTCCCCTCCAAGAATGCACGCACTGAATCTTCGTACACCTCGTAAGAGTTCAAGCTATGTGGGGCCTCCCTAGAACAGCCAGCACATTCTTTAGCTACAGACTGTGGGAAACGCCAACTGAACGACCCTAGGAAATGCCTGCTGTTGGTGACACACACCCTGGGCACCAGGCTTTTATGATTACCACAGTTACACACAGCTCTGGCAGATCAAAGACATCTGTTTTCTAATCTCGAAGCTAATTGGCTCTGGATGGCCAAGGAGCCCTACAGCTGTGGGGAGAGAGGATCAACAGCCCTGTTCCCCCTCCCCAGAAGCCTTCTTCCCCATCTGCTAGGGTATATTTGTGAGTACTCCAGTTGGTTTCTCTGATGGTAGTTTCTCGCCAAAAGAAAAGCTAATTCCCTTCGACAGCTCTGGAAATCTGCAGATGTCACAAGCACAAAGACAGCACTTGATTTGTTGATTGTGGAATCAAGAGACCCAAGGGAAAGTGATCGGAAGTCCCTATGCCTGGCTCACCGAAGTCCTCCTCCATCAAACCCGGTATCCCCTACCTCTAATGGAGTCATAAAAGAGACATTTCTGGGACGCTTCTAAACAAAGAACAACCATCAACAGAGTCAGAACTTGATGCTAAGTACTCACTGATTATACCAACAGGGAGAAGGATAAGAGTAACAGTTATGTTAGCACACTACACCTGGGCTTCCATCAAACACTGGCTGACATTTCCCATACTGGAATGCTTAGGAACTGGACTGTGTGTGTGTGTGTGTGTGTGTTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTGGAACGCAATGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCAGGGTTTCACCATGTTGGCCAGGCAGGCCTCGAGCTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCGTGCCCAGCCTATACACTGTATATTAATAAGGAAATATTAGTCCCTAATGGGAATAGGAATTCATAAAACAGGCTCAATATGGTTATTGA
|
TTCTTTCAGGACAGTGGCTTTCAAACAGCCTTCATCTGCTTCTCACAGTAAGAAACATATTTTACCCTGAGTTTCAGCTTACACAGGCAAGAAAATGTCTGTCATAAAATTTCATAAAATTGAAACAAATGTTTCATAAAATCAAAACAAGTGTTTCCCTTCAAAATACTTACTTCCATGTGCTACGTTCTCTGATACTTTCTATTCTATGTTATTTCATCAAAAACAAAAATCTGCTGGCCCAACATGTCCTGGGACGTTCACAACCTGCATTTTTTCCATCCAACTAATAACAAGGATGGGGGAGAAGGGTCATGGAGGGAATGCTTGGCACTCACCTTCTGGCCCTGCACACCTGGGTTCCCAGGTAAGCCATTAAATCCCGGGCGACCTGGAGTCCCCGGTGGCCCCATGTCTCCAGGTAAGCCGTCAACACCTGTTTTAAAGAGTCAAAAAAAAAAAACAAACAAACAATCATTGCGATTACAATGCCGTTCCCCACTTTCTTCACTTTTAGTCTTGCCCAGAGATGCCGACCTGATCTGAGAAGGTCAACTGTGGAGGCCTTCCGAGGTGGCTGGAAGAGGCCAGGGGAGACTGCCCGGCAGAGGGGTCAGGTGCGTTGCTGTCTCTTCCAGCACCTCTGCCCTCCTCTTTCTCTCTCCTTTCCTTTTCTTCTGCTCTCTTCAAACTTTTCTTTCCCATCCTACTCTCCCCAAACAAAACAAATATACCCCTTGGCGCCTGCAGGTGAGAAGGGCACTTTATTCATCTACTCAAGGTGTGGTTGGGGGGGCAGGTCACCACCATCACTTCATTAGAAATGCAGACCCCAGGGGTCTATAAGGCAGGCCCACTTTTCAAGATCCCACAGGATCTGTCACTGAAGGACACCTGCCCACTGTCTGGGCCCCGCTCTGGAAGCTCTGATGGGCTATGAAGCTGGCCAGCCACTAGTTCAGACCCTTTGTATGCAACACTGAGGTCTCCGATGTCCAGTAATTTGTAAGTTTGCAGTGGCACACACCCGAATCACATCTTCTGTGAGGCTGCTGCACAGATAGGGTCTGTCCTCCTCACTGCCACAAAGCCAAGCAACTCCATGTCACATGGGTCACGGCCTCAGGTGAAGGAGGCACTGTGTGAGGCAATGGTGGAATGTGAGGGAGTTGTGAGTGTGACGAGGCCTCAGCGCCTGGCCCTCCTGAACAGGGATGCTCTGCTGCCCGCCCAGCCTGAGGGAAGCAGCCGTGGTGTGGGTGGGCGTTGCGTGGCTGTCAGAGGAAAGGGGCTGCCGTCTCCTGTTCTCCAAGCTAGCAGCCTACAGCAGTGAGGGTGGATGGGGCCTGGAGCCTCTGGGTAAGAAGCCTGGGAGCCTGGAGGAGATTTCAACCTAAGTGTGGCTGCGTGGTGTGTTGTACGAAGACAAACTTCCTTACACAACACGTCCCTTTTGTGCTCACAGCACCTTCTCCTCAGTCCTGAACAGAAGGTCTGTGATGACAAGTGTGTTGATCAAGGTCTACCTGAGGGACAAGTAGACCTAAGAAATGTGAAAAGCAGGGGGAAAAGAAATTCCCTCCTCACCTCCTTCCAGTTTTCAGCAGGAAGTGACGGCTCTAACACCGGTAGGACTCCTCCCCTCGGAGCAAAGGCCCCTCCCTGCGACTCCTTGCACCTCCCCCTGGGCGCTCCCCCAACTCCCAACCCACCCTGGCTGTGTTCAGGTGGACTGCGAGTCTTCCTCACGGATAAAAAGCAAACACCTGGAGGGTGGGTTTCAGCGGGCACCATTGGTGGCAGTGCCCATGCAGCTTGCACAGCCTTAGCGTCCCATCTTCCCAACCAAACCCTACACTGCAAGGCAGCTATTGCCTAGAAGCTCCTGAAATCACTGGGCTCAGCACTGCTTGGGCTCTTCTGAAAGCCTCCCTGAACAGCGGTCACCAGCTTCTGTGGTGTTTTGATGTCTACCACCTCCTCTTTTCTCACAGAAGTCACAGGTGGACCAAAGGCTCGGGTCCGTCTGGCAGGGTTACCTTTGGGGCTGGGGGGCCCTGGAAATCCAATGCCTGGCTGGCCCACAGCGCCCTTCTCTCCTGGCAGGCCTGGCCTTCCTGGGGTTCCGGGAAAGCCTCGGTCTCCTGTGGTGAGAAAGACCAACAGTCAGCGTGAGAAAAACGTGAGGAAACTCTCGTGGTATCCCGGTGAGCTGGAATTCCAATCGTACCTTGGGGACCTGGGAAGCCTGGGGACCCCGGCAGTCCTTCTGCTCCAGGGGGGCCTGGTAAAGGAACAATTTTTCCTGGTTCACCCTTTGGACCTAGAGGAAAAAAAGAGCAAAGACAAACGATGAAGGAATGAGGACCACACGGAACACAGGGAGGACACGCAGTGGGTGGGCTGCACGCCACATCCTACCCAGCACCACGAGTGCCCGGAGAGCAGAGCCTCTGCCTGTGTTCTCCACTTCTTCCCTTGGTGTTTCTAGGATCTTTCACAGAGAGCTACGCTTCTCCCCATGCGTTTGCATGTCCAAAATGACCAAGATGTTTGTTGGACACAAGAATCCCTTAAGAGTCCACAATTAAGAGTCACAAGAAGCTGAAAAATCTACAACAACAACATGTGAGGTGGCTCTAGGTGATTTCTTAGTGAGCCGGTCTCAAAAAGTCAAAATACTTTTGCTGTTCTCTCTCAATTTACCAAAGTCTAAGTTGCTTTGAGATTGACCTAAATTACGGTCGTTTGGTGGGAAATTATCCAAACAACATGATCCGCGGGTGATTACGAACGATCCATTATCTGTAATGGTGCAGCTGGAGAGCTCTGCGCTCACTTGAGCAACACAGGCAAAACCATCCTTCCTCCCAAGCCAGGAAGCACAGCCCCGGCCCTCTGGGCACTCATGCCTAGGAGAGCCACCGGAGTGTCAGGGTTTCGCTGTTAAGAAAGGACCAAAGGCTTCCCCTCCAAGAATGCACGCACTGAATCTTCGTACACCTCGTAAGAGTTCAAGCTATGTGGGGCCTCCCTAGAACAGCCAGCACATTCTTTAGCTACAGACTGTGGGAAACGCCAACTGAACGACCCTAGGAAATGCCTGCTGTTGGTGACACACACCCTGGGCACCAGGCTTTTATGATTACCACAGTTACACACAGCTCTGGCAGATCAAAGACATCTGTTTTCTAATCTCGAAGCTAATTGGCTCTGGATGGCCAAGGAGCCCTACAGCTGTGGGGAGAGAGGATCAACAGCCCTGTTCCCCCTCCCCAGAAGCCTTCTTCCCCATCTGCTAGGGTATATTTGTGAGTACTCCAGTTGGTTTCTCTGATGGTAGTTTCTCGCCAAAAGAAAAGCTAATTCCCTTCGACAGCTCTGGAAATCTGCAGATGTCACAAGCACAAAGACAGCACTTGATTTGTTGATTGTGGAATCAAGAGACCCAAGGGAAAGTGATCGGAAGTCCCTATGCCTGGCTCACCGAAGTCCTCCTCCATCAAACCCGGTATCCCCTACCTCTAATGGAGTCATAAAAGAGACATTTCTGGGACGCTTCTAAACAAAGAACAACCATCAACAGAGTCAGAACTTGATGCTAAGTACTCACTGATTATACCAACAGGGAGAAGGATAAGAGTAACAGTTATGTTAGCACACTACACCTGGGCTTCCATCAAACACTGGCTGACATTTCCCATACTGGAATGCTTAGGAACTGGACTGTGTGTGTGTGTGTGTGTGTGTTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTGTCTTGCTCTGTCATCCAGGCTGGAACGCAATGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGATGCCAGGGTTTCACCATGTTGGCCAGGCAGGCCTCGAGCTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCGTGCCCAGCCTATACACTGTATATTAATAAGGAAATATTAGTCCCTAATGGGAATAGGAATTCATAAAACAGGCTCAATATGGTTATTGA
|
Task1_train_19401
|
This gene mutation involves COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Brain small vessel disease 1 with or without ocular anomalies
|
ACTTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTT
|
ACTTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTTCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTT
|
Task1_train_19402
|
Gene COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
|
CAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTTAATTTTGTATTTTTAGTGGAGACGGGGTTTCTCCATGTTGGTCAGGCCGGTCTCG
|
CAGGCTGGAGTGCAGTGGCGAGATCTTGGCTCTCTACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCTTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTTAATTTTGTATTTTTAGTGGAGACGGGGTTTCTCCATGTTGGTCAGGCCGGTCTCG
|
Task1_train_19403
|
Consider this mutation in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTTAATTTTGTATTTTTAGTGGAGACGGGGTTTCTCCATGTTGGTCAGGCCGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT
|
TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCTCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTTAATTTTGTATTTTTAGTGGAGACGGGGTTTCTCCATGTTGGTCAGGCCGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT
|
Task1_train_19404
|
A variant was discovered in gene COL4A1 (collagen type IV alpha 1 chain), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
AGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCCTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTTAATTTTGTATTTTTAGTGGAGACGGGGTTTCTCCATGTTGGTCAGGCCGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCGTGAGCCACCGTACCC
|
AGCCTCCAGAGTAGCTGGGACTATAGGTGCCTGCCACCATGCCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCCAATGTCTGACCTTGTGATCTGCCAGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCTACTTTATAAATAACTATGTTTTTTAAGGTTTACTAGTTAGATATTTTTAATCACCTTAAGTCCTTTCACTCACTTTTACAACTTTTGAATGTTTCCTAGCAACGCGCATTTACTTCCCTCATCTACACACAAGGCATTCCTAGCCTCTCCTCTTCTCATTCCGGGATTTTCTAGGGAAGAACAGGCGTGCTCCATGTCTACTGGGAATCGCAGTCAGATAATAAACTATTAGCACCTGCTGTGTGCAAGGCCTAGCGCCACAGCCCCCTCCCGCTGGCCCTGAAAATAAGCAAGTCGTGGGAGAGGAGAACGACGAGGGAGCCCACACTCATCCCTGCTACAGGTTCTCTGGAAAACCTCTGAACAGGCTGTGCAGGAGGGCAGGGACCACGTCTGTGGTTTTGACCATGTGTTGTCAATGCTCAGCATAGAGCTTGGCGCGTGATTCACTCCAAAAACAGCAGACAACTAAAACCACCATGGAATGAAATCGTCATCGCGCTGTAGGACCTCTAAATCCATTCACAGGCGTCTGCCGACTGTGAAGAGGTGGAGATCACACCACTCGGGATGCACAGAAGCCAAAATGGGCTGCTCATCGGGGAAAGCCAAATGGGTAAGGAGAGGAAAATGACTTGACCTCGGTGTGACTTCTATACAAAGGCTGACTTTAGCTGGTGCGTGCTGTGTACTTACTTATGAGGACTGTAAACCCAAGTTCTCCACCTGCATATTACCTGGCCCATCACATACATGAGGAAAGGGAGGCACAAAAGGCTGAAGGCTTGCCCAGGTCCTGCCCCAATTCCTGGAAGAATCAAAGCCAAGTGTGCGCCCTGGCCTATGCGAACCCCAGGCCTCTGTGTGCACCCGAGGTGCCTGCCCTAACCTCCGTTTACAACTTCATGCTGCATCACGAGTTTCTCAGGCCTCACCTGGCAGGCCTGGGGATCCAGGGCCTCCAGGAAAGCCTGCTTGTCCTTTGTCACCAATGGGACCAGCAGGACCATATCCTGGAGGCCCAGGGGGGCCGGTGTCACCACGACTGCCTGGGAATCCAACTCCTCCAGGGGGGCCACGCTCTCCTTTCAATCCTACAGAACCCTGATGTGAGAAGAAGAAAAAGACACCGTTATCAGAGACACACCAACACCCTGTCCTTATCGCATTCTTCTGACATTTGTGGTCAATAAGTACTAGAGTTAACTGGCTCACACTATTTATTTACTTCATCTACCCTCCCAGGAGGGCCACCTTGTAGTTAATAAGTGAAACCAGCATTCTTCTCCCTAAGCTGAGCATTCTTCCTCCCTCATCTACTTAGGGAGATACTTTAGAGAATGAGATGTTGATACCTGGAATCTTTTGAAAACAATGACATGAATACTATTAACTTTAGATTTCACCTCCCATCCAAAGCAAAAAGATACACAAACACATCTGTTCAGTTCCCCCAAATGCATCAGAAGACACTGATCTGTTATCACCTAATTATTTGTCAATAATAACTGGCAATGCCTAGGTTTATAGACTTAAGTTGTTCCATGAACCATGAATCATGAAACAAGTTCATTTGTGCCATCATCAAGGAGATAGAAATACATCAATATGATTCAAATTACTCATTTCTCAATGCTTTGCAGATCCACACTGTAAAATGCACATTCAAAGTCTGGAGATAAACATACCGGCGAGCCCTTGGGGCCAGGAAGACCCGGATGGCCATCTCTTCCAGGAGAACCCGCTCTCCCTGGCATGCCGGGCTGTCCTGGAAAGCCTGGGTCTCCTTTGTCACCTTTGAGCCGCAAGTCGAAATAAAACTCACCAGGCTCCCCCTTGGCTCCTGGCTGGCCTATCAGCCTTGGTGTACCTTGAGGGCCCTGTAAGAACAAAGCCTTGTGATCCACAGAAGAACCCATCCATGAAGCACACCAGTGTGACTGTAACACAAGCAACCATAGAATCAAGAAGCCACCTTCTTGAAAATGGTCATGCATTCATGCCTCATCATTGATTTTCTAGATGCAAGCCAGGAGCTCTGTGACAAAGCCCTGGTCTGCTGCACTTCTTGTGTTTTTCTTAAAAACACTTATCTTAATTAGATATTTCAAGCAAAGACCTGGATGGGGCAGAGGGAGTTATAGTGTGGCTTTGGGCACCCAGCTCTCCTCCAGGAGTTTTCTTACCCTAACAACTGCTCAACATTCATAGGAACACACAGCACCTGTCAGAAGGTTCTGATTGATGTGTGGTTCATTGTGCAGCTTCAGTAACAGACAGACTCAAAGAACAATCGCTGTCCTCAGCTCTGCCTGCTGCCTCAGCCCCACCGGCAGCACGCAGAAGCCTTTTCTCCAGCTTCTGGGCCCACTGAGCTACCCGTCAGCACCTCCTGGCCAGTGCTGAATACTCCTGTGCATATTGAACAGGCTTCCTTTTATGCTCATGCCCAGAATTCCAGAAGAGATAAGGACTTCCAGGGCACCAGTGAGAGATGAAACTCTGGGAGTGGGCACTGGGCCAGCTCTAAAATGAGTTATGTTGAGTCAGCAGAGTCAAATTGACTTTCCCAAGAGACTCACACTAGAACGTTGCTCAGTTCCTGGAAAGTTAAAACTGCAAAGAACACCCATACCCACCAATGGCTTCTCCTCCAGCATCCTGAGACTTGGGTTTCACAAGAAAAACAGAAAATGTTTCCAACAATTGTCCCATTGACTTGTTCACTTAGGCCTGAGAAAGGCATCTTCAGACTCCCTGTCGACTTGGCAGAATTTTAACTCTGGCACAATTCACTTAATGTGAATTTTTTTTCATAAACTTCCTTGCAGAAGGTTCTTAGATATGTATGAATCCCTCACATGCACACGCTTCTGTGTGTACAGATGCTATGTGCTTCTCAAAGGAAGAAGTTGGTCAACCAAGGACAGACCAACATTTGCCCAATCTTTAGACTGAAAATATGGCTAGCATTGGTTACCAGCCTGCTAGGCACTATGACCCATTCTATAGCATCTCTGACCCTTATTGCAGCTCTGCAAGGAAAACATGGAAACCAGGACATAGCAGAGGAAGAAGCTGATACTCAAAGAAGTGAGCTGATAGATCCAAGACTACTCAGCCAGAAAGTGCTGGAACTGGGATCCACATTTATGCATTTCCAGCTGCAAAACTTGTACCTTATGCCTGTGCCTCTGGAGTGCTAAGGAGAGTTAGGGATGAGCGAGTAAAATCTGCCCATTACACAGGGGGAGAGGTGGGGCTTGAAGGACTTCTGTGTCCTGCTCAAAGTCAAACAAACAGCAAATGTGGGACTAACCTAAATGGAGCAGACTTGCTTTCCTGCCTGAATTGCTTCCTAACAGCTGAAACATCGCAGGCTAAGGAACGGGAGAAGCTGCTCTGCCTCCCATTCCATCTTCCATACCAACCACGATGCACTGACTCCTGGCCCAATCCCATCAAGCAGGCTTCCAGAAGTATGGAGAGAGTCGGCAGCAACTCTCTGCACTGTTCAATATGACTTGGAAAGTTAAATTAAATAACACAAAAAATGCAGTTCCTCCATTACAGTGACTACATTTGTTTTTGTTTTTTGTTTTGTTTTGTTTTTTGCTTGTTTTGTTTTGTTGAGACAGATTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACCGCAACCTCCGCCTCTCAGGTTCAAGAGATTCTCCTGCCTCAGCCTTCCGAGCAGCTGGGATTATAGGCATACGCCACCACACCCAGTTAATTTTGTATTTTTAGTGGAGACGGGGTTTCTCCATGTTGGTCAGGCCGGTCTCGAACTCCCGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCGTGAGCCACCGTACCC
|
Task1_train_19405
|
Given a variant located on Chromosome 13 and affecting COL4A1 (collagen type IV alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Retinal arterial tortuosity
|
ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTT
|
ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCTTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTT
|
Task1_train_19406
|
A sequence alteration has been identified in COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it disease-inducing or harmless?
|
Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTT
|
ACAGTGACATTGGTGACCCTAGGACATCTCGTGTGCTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCTTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTT
|
Task1_train_19407
|
The gene COL4A1 (collagen type IV alpha 1 chain) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTTACACATTTGAAGACTAAAACATGTTTACAGTTCAC
|
CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGACCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTTACACATTTGAAGACTAAAACATGTTTACAGTTCAC
|
Task1_train_19408
|
Here is a variant affecting COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; not provided
|
CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTTACACATTTGAAGACTAAAACATGTTTACAGTTCAC
|
CTTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGTCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTTACACATTTGAAGACTAAAACATGTTTACAGTTCAC
|
Task1_train_19409
|
With a mutation on Chromosome 13 in gene COL4A1 (collagen type IV alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
|
TTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCCCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTTACACATTTGAAGACTAAAACATGTTTACAGTTCACA
|
TTTCTTTGCCACAGAACTTCTTGATTCTAAGTAGTTCAAAGGTCTTTTGATCCGTCTCCCTGAAAATAAATGCTGAGGATTCAACTACTGCCTGGAAAATTTAGCATTGGCTGCATTAATTGGAGAAAATCTGACACCTACGCTGTCTGCCTCTAAAAAGTGGTGCCACTGTGGAAAAAGTCAGGGAGTGTTGGTTTCAATTCATCCTCCCAGTGACCAGGAACCATGAAACCTGCTCAGACCAACCTGGGCATCATCAATCCGCTCGGGGAGTCGGCCTTTTGTGATTCATTATTCTTTCCCCAAAATCAAATACTTGTCTTTCAAAAGGAAATGTCACAGAAATGCTATCTAAGTCAAATGAAAAATCAGAGCATTTCACATTTTAATCTACTCTCCTGTGTGCTCGTTTATGGATATCTCTTTTAGCCTCTAGCCAAATTCAAAATAAGAGAACCACATTTCTGAGCGAGTTAAATCACGGAGCTTCAAATACAGCTTCCAATAAAAGGAAAATTACTAACTTCTCAATTGAATTATTTACCCATAAATTTATTTTTAGAGACTTTTTCCAACTCCGGAAAGAAAGGAGCTCCTGATGAAGGCATAAGGAGTAGAATTGGGGTTGTATGTTTTCTTTCTTTTCTTCTATATTATGATCTTTCCTCAATATTCCTTCTTTCTCACCTCTTTCCTCTTTTTCCGTCTTTTATTAGATATGTCTAGACTGAGTTTCAGCCAGAGTTGAGGCAGGAAGTCCACCAGGAAAGCCCAGGAGATGAAGCGGTGCATAGAGGTTAAAAACGTCCTTTTCTGCTTCCTTCAAAGTTCTTCTGTCTTTGATCCCCACTACAGTCAGGGCTACCCAGTTATTTGAACTTCTAATTTATTTAGATATATCTTAAACAATTGCAACTTCTAACTCAGCTCCCCAGGCACCAGGGAAGTTCTGGAGAGCAAAAGCCCAAGATCTAACTTCAAAAGCAGAAAATGATTGCTGAATTCCAGCTGGGTCATTGCTATTTCAACTCGCTTTTGCCCTGGTTTTCTTTTGTAGAAGCTTCCAGCAATATCTTTAAAAATTAAAAAATTTGAAGGGCTACATCAGAAATGAATAATTCTGAAATTTGACTTTCAATATCTTACAAAAAGAAAAAAAGGAATGAAAGGAATTGTGGAAACCAGTCCATGCTCGCAAAGCTCAGAAGAACAAAGAAAATACGAGAGGAACAATGCCTTGAGATTTCAAAACTTCAGAAACAGAAGTCATTATATGCAAGAAAATAATGTCCTTCAAAATTCAAGATTATTATTATGCTCTTCTATTTAGTGGATTCTTTTAAAACAAACTACAAAAGCTAAGAAGCTGGTATTTTGTTCCATTGAAAGGTTTCATGTCAATGTGATCCGGATATTTCATTTATGGATTTGAAAAAGCAACTGCACAATAGATGTTGTAACAGAAATTTTCAACTGTAAGAAGAAGAATAAAAACATATTTCTAATCCTCAGAGGCAAACAGATCTGCTTTCCTTGATCTTTTCATAGAAACTATTGATGCTGAACCTACTGACTAACCAGCTTTTAGATGATCTGATATGATGTTACCAGCACTGGTAACACAGAAAGACGGCACTTCGGCTCTGCACTGTGGCTGTGTGGGGGTGGCTCCTGTGACACCATTTGTTTCCAGAAATCCCAGAGACCCTGAGGGAAGGACACACTCCCATTCAGCCACACCTGAACACAGGTCGGCAGCAGCCGAAAAAATGTTGACCAGGTGAGAAGAAAGGCAGCTGTGATTTGGGCTCTGTGGGTAACAGTCTTGCTCATTCTCCTGAGACAAGGGCCGCATGGAGTCACTCCAGAGGGCTCGACACAGCAACACTTACCAGCTCCCACACAAGGCAGAAGCCATGCTTGCAAATGCAAAACGACACAACTCTGTCCACGTGCTTGGTGGCAACTTCTGATATGTACATGAACTCAGACAGGTTTACTTACTGGCACTCCTGCAACACCATCTCTGCCAGGCAAACCTCTGTCGCGCTTGGCCCCTGGCTGCCCTGGGAAACCTTTCGTGAGAGAGAGGGAAAAAGACAGCAACACAGCATTCATGAGACACTTCTCAAAACCTTTTCTTAAGACTCAAAAGCATAAAAATCTGTATAGGAAGTGGATGATTGCTTGGATAATCCAAAGAGAGTAATAACTAAAATGCCCAAGACGGACTCAGAAAGGGAATAGGTGACCCGACGCACATGTACACCCGGAAGCAGGAATGCTTCCAGCACCCCACACCTGCCCCCCTGCCCACACACCCAGGGACCACTTAAAGGAAAAACATGAATTCCATTAACTGCTTGTGAGATAACAGAATCTGTGGCATGGAGGGAACTGTTATGCTGCTGTCTTTTATTAGGAAATCTTTATGAGGCCATCTTGATCATTCCCAGCAATGTGGACAAATCCTGGAAGTGGGGCCCAACATTCTTCTGATTATGCTTTAGGATTGGCTGCCGAAAATCAGGCCTTCTATGGAGTGAAATCCCTTTCACAGGAAAGATGCCAACACACCAAAGCAAACTCTGACCTGGTCCTTTTCACATGTGGGTCTTACCTATTTCTCCCGGGGGTCCCTGTGGCCCGGGAGGCCCCCGATATCCGTCTATATCACAGATGAGGCAACTCTCTCCTTTTTGACCTAAAAAAGAAAACACAAAGGTGCTTACGTGTAACATGTGACCAGAAGTCTCCGCAGTGCACTGAGAGAACAGAAAAAGGCAAGGCTGTCACTAACATATTACATCCAAACTTAGGTTTGCTCAGTGGCAATGGCTCCTCCAGACAGCTCTCTGCTAATGGGTGGAAACTGCAGTCAAACGCACGTCCCTGTCTGTCAATGAACGGGCCCACTGCCCCCAGCACGCGTCACGTGTGACCACAGACGCACTGCTTAAAGATCCAAGTTCTTCTCCCAGCGAAAAGACAGGGCTGCCTCAGTAAAAAGTGGTCCAGAAATTCAACTGTGCCTATCAGCCTGAAAAGACTTGACTTTTGTAATTTGTCTGTAATGTGAAAACTACCCATCCCCTTTCTCTTTGGTTGAGTGCTTAGTCCAGTTCATGGACTTCACTGGTTGGTGGACTTGGGAATAAGAAGCCACAAAAGCAAGAACACATATGTGATCCAGGACAGAAGAGGAGAGAGACTGCAGCCCTGAAAAAGGAGAGGAGATGCTCTTCTTTGGAAATTCTAACATCTGAAGTCTTGATTTTCAAGCCAAGCTCAGAGACCTTACATTGTCTTAGCTATTCCTGTGTCTTAAATATTGAAATGTCTGGTTTCTAGGCACAAATCAGGCATAATACAGAGCAAAAAGTGCTCGCAGAGAAGCCCATGCCAGGGACATCGAGGCGGCGTGGCCATGTTCTTCCCATCCCTGCCCTGGCTGGCAGCCGCACACGGGCACTGCTATTGCCCACTCTGCCCTGGGATGCCCCTCAGTCAGAAGTAAAACAGGGCCAGTGCAGGTAGGCCATGCCCCCGAAGTGTGGGAGCAGGCACATGGTTTCATTTCGAGCTCTTTCAGGAGGCAGAGCAGGAGCCCATCAGTGGAAGGGGCACGGTACAACACAGCTGAGAACCCAGCTAAGTTCTGGGCACTGGGGCATTCGTGGGTGTGTCTGTTCGCAAGGCTTCAGGTGGGTGGGGAGACAAGGTGCATTCCCAGCAGACGATGGAGTCGAAAGAGGAATGGGAAGACTCGAGAAGACAGATGCTTCTCCTAGGATCTGGGGGATGGATAGCTAAGATTGCAGTGTGAAGAACCTCTGGACGCTGGATCTGTCATAAAATGGAAGAGCCCATCTCACAAAGTACTGAGCGCCTGGTAACTAGAGCAGACAGACTCATTAAAACCCAAACTGTACACTGACTCAGATCAGTGGCACCCCTGTGATGACGCCCAAGATCGCTTCCATTTCAGGTCCTGCAGTGTATGTGGCTGTCAGAATTCTAAGATGCTGGCTGAAACTTTTCCATGCATCATTTCTGTCTTACACATTTGAAGACTAAAACATGTTTACAGTTCACA
|
Task1_train_19410
|
This gene mutation involves COL4A1 (collagen type IV alpha 1 chain) on Chromosome 13. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
|
AAATCAGTATTCACTGATGAAGCCCACTCATACCTTTTCTCCCTTGGTGGCGAAGTCTCCTTTTTCTTGAACTTGAGCTTGTCCTGGTACTCCTGGAGGCCCACTGACCCCTTGGTCACCCTGTCGACATAAAAATGTAAAATTAATTAGGCATGAAAACAATTATGCAGACATGAAAAATTGCAGAGAGAGGTAAAAGCCTAAAATAAAACACCTATTTTTAAAATGTAATTATACTCTATTCTGTTCTAATCATCCTTGCCTCTGCAGAAAATCAAATTTCAATAGGAAGATGATACAACAAGTATCTAAACCCAGGAGGAGAATTTCACTTCTTCTATGGGTGGCCACTAGCTCAGGAATAACCATGGAATCTGAACACCTGCAAGACACCTCCGGACTTGCGTGCCCCTGTATAGTGTATACTGGCTTCTGATGGCACGGAGGAAAGGAATACAAACTACCTAATAGAGCTTGAGAAAAAAGAAGGCATTTTAGGTAATCCCAGAATAAGACAACCATCAAGAGTCTCCCTCCTCGGGCATCCTAACTGCCGGGTACGCCTAAAAATTACAACTGCATACATTTCAGAGTCACTATATTTCAAAGTTTATGAAAAGACTGGGCCAAAATCTTGGGTGGCAAGCAGAGGCCACCTGCACATCCAGATCCATCCAGGCCCCACTGTATTGGGCGCTCTGGTTGTAATTGCCTCCACCAGCTTGGATGTCAGAGGAGAATCTGGCCTTCCACAGGCTGGCTACAGCAATGGCAGGCATCCCTTCTTAGCCAGTGCCTGCTTCATTGGTCTGATCCAGGGAAACTCCTGGAGAGGATCAGGGACCCACCACTTGCCTCCTCTCTGCAGGATGAAGCCACCTGCTGTGTGGTCTGTGCCCTCCCGGCTCCACACTGCATCTCCTCCCACACCCACTTGGTCCTGGACCTGCCCACCTCTGAGAAGAGAGGCCGGTGGTGCGGGGCCACTGCCAACCGTGCTAGTCCTAATTCTCCTGGTGGTGGCCCTGGACATGCCCGCCTCTGAGAAGAGAGGCCGGTGGTGAGGGGCCGCTGCCCACCGTGCTACTCCCAATTTCCTGGCGGTGGACTCCCGCTCTGCAGGGCTTACAGGGTTACTCATCTAATGGTCAAGTCCTAAATTTGACTCATAAATCCTAGGTCTGACCTCATCACTGACGAAGAAGAGTTTGAACTCTTTGTACAGATAATTGGAGTTAGTCTCGTTGTTCTCTGCTTGTCAGATCACAGAGCACTTCCATAAATTCTAGCGTACTGAATAAGCTAGAATAAATTCAATAATGCTGGCATTTTAAGGAAAACACTAACTACCAAATGCAAGAACATGCAGAGAAGAGTAACTATACTTGTAAGAGTCCAGACATTGATCCAAAGGTGGGAACTGTCAGGTGAGGACTGTGGTTTTCAACATGAAAGCACTCCAGAGCAATATGCACTCACCTTGTCACCTTTTGGTCCTTGAAAACTTAAGCCCATTTGTCCCTGTGGATTAAAAATTAGGCTCTCATTATTAGATTTGTCTACTTCGTTCAAAGTCATTCTACAAACCTCACACAAAATGCAATAAGATGGTAGATTTCAGGCAATAGCTTTGTCCCATAACTCTCATAAAATTTTCTGGAAAGTAACGATCATGCTGAATTCAATGTCTATGAAAAAGTTTTTAAAGTATGACTGATCAAAAATTCCAAAGACCTTTTTAAAAATTTACAGTTTTTAAACTCTTGCATTAGAAAACTAAGGGAAATATCAGTGTGATTCCAAAGTATTGACTAAGGGATGGATGAAAGAAAAGATCAATATATTGATAGATAATCAATAGATAATAAATGATATATGATAGATACTTAAAGGTATAGTTAGATATAGTGTTAATTTTCCAACTTTTTTTTAGAGACTGAAAGAATAAGAAGAGTGAGCTATAGCAATTTCATGATAGCCTTATACTAATGCCAAAGAACAAAAAATGAAAAGAACTTTTACCTTTTCACCTGGAGGGCCGGGAGGGCCTGGGGGACCCTGGGAGAGACAGCATTTTAATTAAATAGGATTCAGAACTCTAGGGAGCTTTAAGCCCTTCTTCAGGCTGACGTTATCTTAAGATTCTCTGGTCAACATGATAATTTATTTGTGAAATATTTTTCCTGGGCTTCCCCTCCCTCCCCACTCCTAGCAGGTGCAGGACCCTCAGGTGTGACCATACCAATACCAATCCATCTCCCCTGCTCCCTGGTGAAGTCACCTGGGGCACAGCCTGTCTGTCCATCTTTGAACTCACTCCCACAGGCTGTGACTATCAGCAGTACCCCGCCAGCCCCTTCAACCATGACTGCATTATTTGTTTCAGGGTATCAGTTTATGGTACTATCATCATCCCTTTCCCACAGCTCTGGGTATATGGGTACCGGGATGCCAGCCAAACGTTTAGTAAGAGGGAAGCTGATTCCGCCATGTCCAAATTAAGAGCGACCACAACTGTGTAAAGTTTTTACTAAATTATTATTTATTTTCAAACCTCAATATAGTTGTTTTTTAAATGATTGCCTCGGAGAGACAGCCCCCAAAACTTACTGGTGGTCCGGTAAATCCTGGAGGCCCAACAGGACCTTGAAGCCCTGGCAGTCCTGGTGGGCCCTAGAATGCATGAGAAAGAAATGAGTTCAGATGCGAACTGGGAGGGTGAGGTGGCACATGTTCATAATGATTCAGCAAATGCTTACTGGAGTCCCTGGGATTCCGGGAAATCCTCTTTCACCTTTCAACAGCATCCCGGGCACATGGCCAAGTATCTCACCTGGATCACCCTAGAGGATGAAGAAAGAAAATAGAAAGTTGCAAATATCGACATTCATGTAAAGAAGCTGAAAACTCTTTGATAGTTGGCATATATTAGTGTTACAGGACTAGCCTAAGTCTGGGATTTAGACCCCGTCTACACTGGAAATCAATAGCCTGGCCATCTCTCCCATCATGATTGCCGTCTTAATGGCCAGCGTTAACCACTGCCTGGTCAACTGAGCCGCAGCCGGGACTGAATGTAGAGACGGCAAAGCAAAGGGGTCTGCCACACTGCCCGAGGACCACCCCCAACTCTAGACAAGGGCCCTTGTCTCTGGTTGAAAGACTACTGCGTGACCACAGGCTCTCCTCACAAAACAAGAATTCTCTTTTGAGAAAAGGCTCAGGATGAATACTTTTATAAAAGCACGGCGTAATGGTAAATTTTATCTGCCAACTTGGCTAGGCCACATTATTGGGTTAAACACCAGACCAGATGTTTCTGTGAAGGGATTTTTAAAATGAGCTTAACACTTAAATCAGTAGACTCTGAATAAGGCAAATGGCCCTCCATAATGCTGGTGGGCCTCATCCCATCAGTTGAAGGTCTTACAGGATAAAAGACTGACCTCCCTGGAGGAAGAGGGAATTCTGCCCACACACCACCTTCAGACCCAAGACTACAACTCCACCCCTTCTCTGGTGTCTGGCCTGCCCACCTCACTCTGCAGGTTTTGAGTTTGCCGGCCCCCACAATCATGAGAACCAATGCTTTAGAAGCAGTTTCTCCTCTCTCTGGCCACACACACACATGCTCCTGGTTCTGTGTCTCTGGAGCATGCTAACACACAGGGCTATTATGAGGATCTATTTCCTACGTGTTCTGAATCACAGGAGCGAGCACAGGGACTCTCACCTTCATCCAGGTAAGCAGTTATCTCTACTGCAGCTGCTGAGACCTGTAAGCCTCCCTTTGACAAGGCTGATCCCAACATCCAGATGCCCGAGGTCCCCGCCCTGTGCCCAAGCACAGCCGACACATTACATGACTGCACAGTCTGAGGTCGGGCTGATGCCAGCAGCCGAGCCCCAAGACATCAACACCCCGCCTGGGAAAAGCTGCCCCAGGTTCCCTCCTGGGAAGTCTGAGAGGCACCCAGGGAGCCCCATTCTCCCATCTGCCTCCCCAGTTTGGGTGAAGTGAGCCTTCGCCACCACACCAGGCCTCCTTCCGCTGCTTATTCCCCATTAAGAAGCTGTGCCAAGTGTCTGAACGTTA
|
AAATCAGTATTCACTGATGAAGCCCACTCATACCTTTTCTCCCTTGGTGGCGAAGTCTCCTTTTTCTTGAACTTGAGCTTGTCCTGGTACTCCTGGAGGCCCACTGACCCCTTGGTCACCCTGTCGACATAAAAATGTAAAATTAATTAGGCATGAAAACAATTATGCAGACATGAAAAATTGCAGAGAGAGGTAAAAGCCTAAAATAAAACACCTATTTTTAAAATGTAATTATACTCTATTCTGTTCTAATCATCCTTGCCTCTGCAGAAAATCAAATTTCAATAGGAAGATGATACAACAAGTATCTAAACCCAGGAGGAGAATTTCACTTCTTCTATGGGTGGCCACTAGCTCAGGAATAACCATGGAATCTGAACACCTGCAAGACACCTCCGGACTTGCGTGCCCCTGTATAGTGTATACTGGCTTCTGATGGCACGGAGGAAAGGAATACAAACTACCTAATAGAGCTTGAGAAAAAAGAAGGCATTTTAGGTAATCCCAGAATAAGACAACCATCAAGAGTCTCCCTCCTCGGGCATCCTAACTGCCGGGTACGCCTAAAAATTACAACTGCATACATTTCAGAGTCACTATATTTCAAAGTTTATGAAAAGACTGGGCCAAAATCTTGGGTGGCAAGCAGAGGCCACCTGCACATCCAGATCCATCCAGGCCCCACTGTATTGGGCGCTCTGGTTGTAATTGCCTCCACCAGCTTGGATGTCAGAGGAGAATCTGGCCTTCCACAGGCTGGCTACAGCAATGGCAGGCATCCCTTCTTAGCCAGTGCCTGCTTCATTGGTCTGATCCAGGGAAACTCCTGGAGAGGATCAGGGACCCACCACTTGCCTCCTCTCTGCAGGATGAAGCCACCTGCTGTGTGGTCTGTGCCCTCCCGGCTCCACACTGCATCTCCTCCCACACCCACTTGGTCCTGGACCTGCCCACCTCTGAGAAGAGAGGCCGGTGGTGCGGGGCCACTGCCAACCGTGCTAGTCCTAATTCTCCTGGTGGTGGCCCTGGACATGCCCGCCTCTGAGAAGAGAGGCCGGTGGTGAGGGGCCGCTGCCCACCGTGCTACTCCCAATTTCCTGGCGGTGGACTCCCGCTCTGCAGGGCTTACAGGGTTACTCATCTAATGGTCAAGTCCTAAATTTGACTCATAAATCCTAGGTCTGACCTCATCACTGACGAAGAAGAGTTTGAACTCTTTGTACAGATAATTGGAGTTAGTCTCGTTGTTCTCTGCTTGTCAGATCACAGAGCACTTCCATAAATTCTAGCGTACTGAATAAGCTAGAATAAATTCAATAATGCTGGCATTTTAAGGAAAACACTAACTACCAAATGCAAGAACATGCAGAGAAGAGTAACTATACTTGTAAGAGTCCAGACATTGATCCAAAGGTGGGAACTGTCAGGTGAGGACTGTGGTTTTCAACATGAAAGCACTCCAGAGCAATATGCACTCACCTTGTCACCTTTTGGTCCTTGAAAACTTAAGCCCATTTGTCCCTGTGGATTAAAAATTAGGCTCTCATTATTAGATTTGTCTACTTCGTTCAAAGTCATTCTACAAACCTCACACAAAATGCAATAAGATGGTAGATTTCAGGCAATAGCTTTGTCCCATAACTCTCATAAAATTTTCTGGAAAGTAACGATCATGCTGAATTCAATGTCTATGAAAAAGTTTTTAAAGTATGACTGATCAAAAATTCCAAAGACCTTTTTAAAAATTTACAGTTTTTAAACTCTTGCATTAGAAAACTAAGGGAAATATCAGTGTGATTCCAAAGTATTGACTAAGGGATGGATGAAAGAAAAGATCAATATATTGATAGATAATCAATAGATAATAAATGATATATGATAGATACTTAAAGGTATAGTTAGATATAGTGTTAATTTTCCAACTTTTTTTTAGAGACTGAAAGAATAAGAAGAGTGAGCTATAGCAATTTCATGATAGCCTTATACTAATGCCAAAGAACAAAAAATGAAAAGAACTTTTACCTTTTCACCTGGAGGGCCGGGAGGGCTTGGGGGACCCTGGGAGAGACAGCATTTTAATTAAATAGGATTCAGAACTCTAGGGAGCTTTAAGCCCTTCTTCAGGCTGACGTTATCTTAAGATTCTCTGGTCAACATGATAATTTATTTGTGAAATATTTTTCCTGGGCTTCCCCTCCCTCCCCACTCCTAGCAGGTGCAGGACCCTCAGGTGTGACCATACCAATACCAATCCATCTCCCCTGCTCCCTGGTGAAGTCACCTGGGGCACAGCCTGTCTGTCCATCTTTGAACTCACTCCCACAGGCTGTGACTATCAGCAGTACCCCGCCAGCCCCTTCAACCATGACTGCATTATTTGTTTCAGGGTATCAGTTTATGGTACTATCATCATCCCTTTCCCACAGCTCTGGGTATATGGGTACCGGGATGCCAGCCAAACGTTTAGTAAGAGGGAAGCTGATTCCGCCATGTCCAAATTAAGAGCGACCACAACTGTGTAAAGTTTTTACTAAATTATTATTTATTTTCAAACCTCAATATAGTTGTTTTTTAAATGATTGCCTCGGAGAGACAGCCCCCAAAACTTACTGGTGGTCCGGTAAATCCTGGAGGCCCAACAGGACCTTGAAGCCCTGGCAGTCCTGGTGGGCCCTAGAATGCATGAGAAAGAAATGAGTTCAGATGCGAACTGGGAGGGTGAGGTGGCACATGTTCATAATGATTCAGCAAATGCTTACTGGAGTCCCTGGGATTCCGGGAAATCCTCTTTCACCTTTCAACAGCATCCCGGGCACATGGCCAAGTATCTCACCTGGATCACCCTAGAGGATGAAGAAAGAAAATAGAAAGTTGCAAATATCGACATTCATGTAAAGAAGCTGAAAACTCTTTGATAGTTGGCATATATTAGTGTTACAGGACTAGCCTAAGTCTGGGATTTAGACCCCGTCTACACTGGAAATCAATAGCCTGGCCATCTCTCCCATCATGATTGCCGTCTTAATGGCCAGCGTTAACCACTGCCTGGTCAACTGAGCCGCAGCCGGGACTGAATGTAGAGACGGCAAAGCAAAGGGGTCTGCCACACTGCCCGAGGACCACCCCCAACTCTAGACAAGGGCCCTTGTCTCTGGTTGAAAGACTACTGCGTGACCACAGGCTCTCCTCACAAAACAAGAATTCTCTTTTGAGAAAAGGCTCAGGATGAATACTTTTATAAAAGCACGGCGTAATGGTAAATTTTATCTGCCAACTTGGCTAGGCCACATTATTGGGTTAAACACCAGACCAGATGTTTCTGTGAAGGGATTTTTAAAATGAGCTTAACACTTAAATCAGTAGACTCTGAATAAGGCAAATGGCCCTCCATAATGCTGGTGGGCCTCATCCCATCAGTTGAAGGTCTTACAGGATAAAAGACTGACCTCCCTGGAGGAAGAGGGAATTCTGCCCACACACCACCTTCAGACCCAAGACTACAACTCCACCCCTTCTCTGGTGTCTGGCCTGCCCACCTCACTCTGCAGGTTTTGAGTTTGCCGGCCCCCACAATCATGAGAACCAATGCTTTAGAAGCAGTTTCTCCTCTCTCTGGCCACACACACACATGCTCCTGGTTCTGTGTCTCTGGAGCATGCTAACACACAGGGCTATTATGAGGATCTATTTCCTACGTGTTCTGAATCACAGGAGCGAGCACAGGGACTCTCACCTTCATCCAGGTAAGCAGTTATCTCTACTGCAGCTGCTGAGACCTGTAAGCCTCCCTTTGACAAGGCTGATCCCAACATCCAGATGCCCGAGGTCCCCGCCCTGTGCCCAAGCACAGCCGACACATTACATGACTGCACAGTCTGAGGTCGGGCTGATGCCAGCAGCCGAGCCCCAAGACATCAACACCCCGCCTGGGAAAAGCTGCCCCAGGTTCCCTCCTGGGAAGTCTGAGAGGCACCCAGGGAGCCCCATTCTCCCATCTGCCTCCCCAGTTTGGGTGAAGTGAGCCTTCGCCACCACACCAGGCCTCCTTCCGCTGCTTATTCCCCATTAAGAAGCTGTGCCAAGTGTCTGAACGTTA
|
Task1_train_19411
|
A variant was discovered in gene COL4A1 (collagen type IV alpha 1 chain), Chromosome 13. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Brain small vessel disease 1 with or without ocular anomalies
|
TATGGTACATCTAACAGCTGATTTTGGAAGGAGGTAAGCCAAAATGTTATTGATGGCATGAAAAGTGAGACAAATTTTAAAATTAGGCAGATTCAGTTTTTAAGTGATTTTCTTGTATACCCATACATCATCTGCACATTAAGCACTTTTCTCTAATTAAGCCAGGGAAAATACAGAGTAATGATAATATCTGTGAGGTCAGCTGTGATCAGAAGTGCCCACAGGCTGCATCTCTTAAAAACAGTCCATGGCACCTCAAGGGACACTGCAAAGACAGTGGCCGGGAATGTAATTGAGCTTTAGGAAATGATTAAAGGGAAGTAAAATCATCTCCAACTCAACATTAATGCGTTTGATTTCCCGGGTGAGAACAGGATTTGCGTAACTGAGTGGTTCTTTCTTTCTACAGTCCTGGATGTTTGGAAAGCCAGCTCTTACAGTTAGCTTTCTTTGCTTTGCTAACATTATCCATCAGAAAATCGAAATGCAAACAGCTCCTATTTCCCAATGAAGAACTTTCTCTGATTTACCTTACCATCATCAGGCTTCACCATCTCACCTTGGAAGCGTTCAATCTTTTGGTCAATATTTCTAGACCAAAATAAAGTGCTCTCAAGCCTGTTCTTTGGAAAGTATTTTGTCATCATTACCAAAGAGTGTTTAAATAACTGGCTATGAAGTTTGGGGAGACTGGGCTGGGAGGTACAATCTGAAGTTAATTGCTGATGTAATCATTAGTCCTTTCAATACCCAGTGGAGAAGCTGCCTCCAGGGAGATAAGCTCTCAATTAGGAGACGTGTGTGTATATCACCAGTTCTCTCTGGCATGTAACAGTTAACAATTTCTATACAGTTAAGTGGATTTAGTGAGTATCATTCTTCCAGGAGAGAAGTAAAATTTTTTTTTAAAGAGGAAAACAAAGAACAAGATTAAGAACAGTAAAAGAATAAGTATGGAAAATCTGGTAAGTAGCAAAAATCATTTTTAAGCATTTGAGGGAGAAACTGCAAAATCTGTTCAGAAGCCACACCTTCCGGCCTGTGGGACTGCATGGCTGTGACACTGAGCAACAGCTGAAGTCTTTATTCTCTCGGAGGGGAAGGAAAAAAGGAAACAACAGTCAGTCCAGGCTTGTCCACGGCTGGAAGCCTCGACTCCTGCAAACCTCCTGCAAACCGATCTCCCAGATCCTTTCTGGGCAAGCACATAACCAAAGGAAATGAAAACTAGAAAAACAATTTGTGCATGGAACAATGACATGGAGTTTCACTTTGGTTTCATGCTCAAATATGAATGTGGTTATAATTTTTTAAAATATATATTAATAGAAGGCAACGAGTTGAGGATGGTGGCTTCTTCAAGCCGGGCGTCCAGAAGAGCCCCACTTCTGCCTTGGAGCGCGCCTTAGGCAGCAGTCGTGGGAAAGCTCAGATACAGCTGTTTCCAGGCAAAGGGCCCAGAGCTTTTCAGCCTCAGCCACCAGGGTCTCCAGACAAGGAGAAATACGCCCAAAGCTGCTCCCAGGGGCTAGGAGCTCGGAGCTCCCAGTGTGGGTCTCTGAGCAGCGCGGGGTGGGCGCTCCCGGCCCTCCAGCCCCCAACTCCCTCGCGCACCCGGGACGGGTGAAGGCGCCCAGCTGCCGAGCATACCCGCGACGCGGGTTCAAATCCCGCCGGCTCCCAGGCACCCTCACCCCGCCACAGCGCGGGCTGTTTCTCCTCCCTTCCCCGGAGGAATTCCTTAACTCTCCAGTACCCATACCATAACAAAGGAGGCTCGGTCCACCAATGCGCGATCGTAGCCTACAGGGACCCCCAACGAACCCCGGCCCAGAGAATGCACCTGGCCGTGCCACGCGCGACCCCCGAGGGGCAGGCGGACGGGTCCAGGCGCGGACAAAGGGGCCTCTCGGGGCGCCCAAGCTCGGGGCGGGACGCCGGGAGCGGAGCTGGCCGGGAACTCACCTTCGCAGCGGCCCGGCTGTGCTCCTCGTGGAGCAGAAGGGCGGCGGGCAGCAGCAGCAGCCAGACGCTGAGCCGGGGCCCCATGGTGGCGCGCCCGAGGCGGCGAGGGACGGCTGCCCGGCGTGCGGGGGCCGCGGCGGACAGCTAGCTCTCGGAAGGCCGGACTTCCAGCGCTACGCACCGTCCCGGGTGCGGCGGCTCCAAGCGGAGACCTGAGCGCGGCGGGCCGAGCTCCCCAATTTGTTGGCGCTGCCCCCTCCCCCCCGGCGGTGCGCGGGCGGCGCCTCAAAGGGGAGGACCCTGCGGCGCGGGTAAGAGGCGGCGGGAGCGCGCGGCCCGGGAGTGTGGCTGCAGTGCGCCGGGACACCAGGGCTCCGCGCTCCGCACTCAAGAGGCTCCCGCGTCCCAACCCCTCGCGCCCGCGCGTTCGCGGATCCAGGCCGAGGACCGAAAGGGGCCGCCCGAGCCCCCGGGGCCGGCGCCCAGAGAGCCCAGCAAGGCCGGCCGCCCTGCCGGTGTGCCGCCGGCGGGTGCTTCTGGAAGGGCCAATGCGTTCGGGCAGCAGCCCCTGAAGCCGAGCCCGAGGTGAGAGCGACCCCCGAGCGGCGCCCAGACCCTGGCCCGAGAGCACCGACTTGGAGCGCCTTGTGCAGGCTAGGGCTGCACGCTCTCCTGCTTGGGAGTAGAAAGGGGGAGGGTGGGAGAGCGAAGACCGAGCTCCTCGGCCAAGGAGCACCCACAGGGGCCTAACGGGAGGCTCTCCTTCTTTCCGGGTCGTGGGGGGGACGGCCCTCCGGTCACCCCTGCATGCGGGCCGCGCACCGCGCTGTCCCCGCGTCTCGCGGACCGAGACCGGCGGTGAGGATGGGCTGCCTCCCTCATCCTGCGCTAAACTCGCTTTGTCTGTCGCCTCTAGGCTAAGTGGGACTGACCGGGGCCCAGAGTGGACGAACCGCCAGCATGGGGAGAGACCAGCGCGCGGTGGCCGGCCCTGCCCTACGGCGGTAAGCGACTTTCTGCCTGGTCCCCGTGGGTCACGCGCGCATGGACCCTTCGGTGTAACTCTCGGGGACTGACAAGCCGGGCCCGCACGTTCACGTCTCTCTTCCTCCCTTTCCCATGCAGGTGGCTGCTGCTGGGGACAGTGACCGTGGGGTTCCTCGCCCAGAGCGTCTTGGCGGTAAGTCCTGGCTCCCGCGCTTGGACTTGCGCGCCCGAGAGTGGTTGGGACGTTTGAGTGGCCTTGGAGAAGGCAGCTCGTCCGTGCGCTCCCGAGTGTGTGTGTGCGTGTGGATGTTCGCCAGGCTGCCCACCAAGGTTCTGAGAAAGCTTGCTCTTCCCTCATCATGCTTTCCACCTTTCCTTCCCCTTGGGTTCCCAGCGTCAATCCTGTGTTTTGCAAGCGTCGGCCTTTCACGGGAACTGGGAACTTAAAATGTAGCCTGAGGCACCGTTTTCGTTGCTTTGGGCAAAGCTGCAGCCGTAGAGGCCAGGAAAGTGTGTCAGTCACTAGGCAGTGAGACGCCAGGCTTAGGGCGAAAAAAGTTTTCCTGGAACTCGGGAGCTGGTGGGGAGTCTCTGTCACGGACTGAGGGTTTTTTGTGTTTTTAAATGGGAGTCTCTGGGTAAAGGGGCGGGGCGAGGAGGCGAACGAGACAACCTTAGTATTGTTTGAATTGAAGCATTGCGAGGGAACAATGGCAGAAAAACCGCGTTTTCTCCCAAGTCCTGTTCCGGCCCTGGAAGAGCTGCTCCGGGCGCCACACTGGGATCCTGTTCGCCGAGCCTGCCCCTCCACGCCGGCCGTGCACAGCCCTGCCGATACCGTGGGTGCAGCTGGCGACTGCACTGCGAGGCTTTGTCCATTTTATACGTTTTGTTTAAAGAGTAGGAGCCACTTTTACTGAGCTTTATGTAACCATGGCTAAAATGAAGAGGTTTGGTAGGTGAATTCGGTGCAGGACTCAAATGTTTAGACAGGAGCTGAAAGCGGAGGGAGCTTTCGAGATGTCCGCTGTCCCTCCTCTCCTTACTGTGGCCGATGGAGTAGCCCTGCCCTGTGGCAGCCGGGGCCCAGGTGGATTCCTCCTGGGAACGACCCCTCCCTCCTCAGCGCGCACTGTGCCAGAGC
|
TATGGTACATCTAACAGCTGATTTTGGAAGGAGGTAAGCCAAAATGTTATTGATGGCATGAAAAGTGAGACAAATTTTAAAATTAGGCAGATTCAGTTTTTAAGTGATTTTCTTGTATACCCATACATCATCTGCACATTAAGCACTTTTCTCTAATTAAGCCAGGGAAAATACAGAGTAATGATAATATCTGTGAGGTCAGCTGTGATCAGAAGTGCCCACAGGCTGCATCTCTTAAAAACAGTCCATGGCACCTCAAGGGACACTGCAAAGACAGTGGCCGGGAATGTAATTGAGCTTTAGGAAATGATTAAAGGGAAGTAAAATCATCTCCAACTCAACATTAATGCGTTTGATTTCCCGGGTGAGAACAGGATTTGCGTAACTGAGTGGTTCTTTCTTTCTACAGTCCTGGATGTTTGGAAAGCCAGCTCTTACAGTTAGCTTTCTTTGCTTTGCTAACATTATCCATCAGAAAATCGAAATGCAAACAGCTCCTATTTCCCAATGAAGAACTTTCTCTGATTTACCTTACCATCATCAGGCTTCACCATCTCACCTTGGAAGCGTTCAATCTTTTGGTCAATATTTCTAGACCAAAATAAAGTGCTCTCAAGCCTGTTCTTTGGAAAGTATTTTGTCATCATTACCAAAGAGTGTTTAAATAACTGGCTATGAAGTTTGGGGAGACTGGGCTGGGAGGTACAATCTGAAGTTAATTGCTGATGTAATCATTAGTCCTTTCAATACCCAGTGGAGAAGCTGCCTCCAGGGAGATAAGCTCTCAATTAGGAGACGTGTGTGTATATCACCAGTTCTCTCTGGCATGTAACAGTTAACAATTTCTATACAGTTAAGTGGATTTAGTGAGTATCATTCTTCCAGGAGAGAAGTAAAATTTTTTTTTAAAGAGGAAAACAAAGAACAAGATTAAGAACAGTAAAAGAATAAGTATGGAAAATCTGGTAAGTAGCAAAAATCATTTTTAAGCATTTGAGGGAGAAACTGCAAAATCTGTTCAGAAGCCACACCTTCCGGCCTGTGGGACTGCATGGCTGTGACACTGAGCAACAGCTGAAGTCTTTATTCTCTCGGAGGGGAAGGAAAAAAGGAAACAACAGTCAGTCCAGGCTTGTCCACGGCTGGAAGCCTCGACTCCTGCAAACCTCCTGCAAACCGATCTCCCAGATCCTTTCTGGGCAAGCACATAACCAAAGGAAATGAAAACTAGAAAAACAATTTGTGCATGGAACAATGACATGGAGTTTCACTTTGGTTTCATGCTCAAATATGAATGTGGTTATAATTTTTTAAAATATATATTAATAGAAGGCAACGAGTTGAGGATGGTGGCTTCTTCAAGCCGGGCGTCCAGAAGAGCCCCACTTCTGCCTTGGAGCGCGCCTTAGGCAGCAGTCGTGGGAAAGCTCAGATACAGCTGTTTCCAGGCAAAGGGCCCAGAGCTTTTCAGCCTCAGCCACCAGGGTCTCCAGACAAGGAGAAATACGCCCAAAGCTGCTCCCAGGGGCTAGGAGCTCGGAGCTCCCAGTGTGGGTCTCTGAGCAGCGCGGGGTGGGCGCTCCCGGCCCTCCAGCCCCCAACTCCCTCGCGCACCCGGGACGGGTGAAGGCGCCCAGCTGCCGAGCATACCCGCGACGCGGGTTCAAATCCCGCCGGCTCCCAGGCACCCTCACCCCGCCACAGCGCGGGCTGTTTCTCCTCCCTTCCCCGGAGGAATTCCTTAACTCTCCAGTACCCATACCATAACAAAGGAGGCTCGGTCCACCAATGCGCGATCGTAGCCTACAGGGACCCCCAACGAACCCCGGCCCAGAGAATGCACCTGGCCGTGCCACGCGCGACCCCCGAGGGGCAGGCGGACGGGTCCAGGCGCGGACAAAGGGGCCTCTCGGGGCGCCCAAGCTCGGGGCGGGACGCCGGGAGCGGAGCTGGCCGGGAACTCACCTTCGCAGCGGCCCGGCTGTGCTCCTCGTGGAGCAGAAGGGCGGCGGGCAGCAGCAGCAGCCAGACGCTGAGCCGGGGCCCCAAGGTGGCGCGCCCGAGGCGGCGAGGGACGGCTGCCCGGCGTGCGGGGGCCGCGGCGGACAGCTAGCTCTCGGAAGGCCGGACTTCCAGCGCTACGCACCGTCCCGGGTGCGGCGGCTCCAAGCGGAGACCTGAGCGCGGCGGGCCGAGCTCCCCAATTTGTTGGCGCTGCCCCCTCCCCCCCGGCGGTGCGCGGGCGGCGCCTCAAAGGGGAGGACCCTGCGGCGCGGGTAAGAGGCGGCGGGAGCGCGCGGCCCGGGAGTGTGGCTGCAGTGCGCCGGGACACCAGGGCTCCGCGCTCCGCACTCAAGAGGCTCCCGCGTCCCAACCCCTCGCGCCCGCGCGTTCGCGGATCCAGGCCGAGGACCGAAAGGGGCCGCCCGAGCCCCCGGGGCCGGCGCCCAGAGAGCCCAGCAAGGCCGGCCGCCCTGCCGGTGTGCCGCCGGCGGGTGCTTCTGGAAGGGCCAATGCGTTCGGGCAGCAGCCCCTGAAGCCGAGCCCGAGGTGAGAGCGACCCCCGAGCGGCGCCCAGACCCTGGCCCGAGAGCACCGACTTGGAGCGCCTTGTGCAGGCTAGGGCTGCACGCTCTCCTGCTTGGGAGTAGAAAGGGGGAGGGTGGGAGAGCGAAGACCGAGCTCCTCGGCCAAGGAGCACCCACAGGGGCCTAACGGGAGGCTCTCCTTCTTTCCGGGTCGTGGGGGGGACGGCCCTCCGGTCACCCCTGCATGCGGGCCGCGCACCGCGCTGTCCCCGCGTCTCGCGGACCGAGACCGGCGGTGAGGATGGGCTGCCTCCCTCATCCTGCGCTAAACTCGCTTTGTCTGTCGCCTCTAGGCTAAGTGGGACTGACCGGGGCCCAGAGTGGACGAACCGCCAGCATGGGGAGAGACCAGCGCGCGGTGGCCGGCCCTGCCCTACGGCGGTAAGCGACTTTCTGCCTGGTCCCCGTGGGTCACGCGCGCATGGACCCTTCGGTGTAACTCTCGGGGACTGACAAGCCGGGCCCGCACGTTCACGTCTCTCTTCCTCCCTTTCCCATGCAGGTGGCTGCTGCTGGGGACAGTGACCGTGGGGTTCCTCGCCCAGAGCGTCTTGGCGGTAAGTCCTGGCTCCCGCGCTTGGACTTGCGCGCCCGAGAGTGGTTGGGACGTTTGAGTGGCCTTGGAGAAGGCAGCTCGTCCGTGCGCTCCCGAGTGTGTGTGTGCGTGTGGATGTTCGCCAGGCTGCCCACCAAGGTTCTGAGAAAGCTTGCTCTTCCCTCATCATGCTTTCCACCTTTCCTTCCCCTTGGGTTCCCAGCGTCAATCCTGTGTTTTGCAAGCGTCGGCCTTTCACGGGAACTGGGAACTTAAAATGTAGCCTGAGGCACCGTTTTCGTTGCTTTGGGCAAAGCTGCAGCCGTAGAGGCCAGGAAAGTGTGTCAGTCACTAGGCAGTGAGACGCCAGGCTTAGGGCGAAAAAAGTTTTCCTGGAACTCGGGAGCTGGTGGGGAGTCTCTGTCACGGACTGAGGGTTTTTTGTGTTTTTAAATGGGAGTCTCTGGGTAAAGGGGCGGGGCGAGGAGGCGAACGAGACAACCTTAGTATTGTTTGAATTGAAGCATTGCGAGGGAACAATGGCAGAAAAACCGCGTTTTCTCCCAAGTCCTGTTCCGGCCCTGGAAGAGCTGCTCCGGGCGCCACACTGGGATCCTGTTCGCCGAGCCTGCCCCTCCACGCCGGCCGTGCACAGCCCTGCCGATACCGTGGGTGCAGCTGGCGACTGCACTGCGAGGCTTTGTCCATTTTATACGTTTTGTTTAAAGAGTAGGAGCCACTTTTACTGAGCTTTATGTAACCATGGCTAAAATGAAGAGGTTTGGTAGGTGAATTCGGTGCAGGACTCAAATGTTTAGACAGGAGCTGAAAGCGGAGGGAGCTTTCGAGATGTCCGCTGTCCCTCCTCTCCTTACTGTGGCCGATGGAGTAGCCCTGCCCTGTGGCAGCCGGGGCCCAGGTGGATTCCTCCTGGGAACGACCCCTCCCTCCTCAGCGCGCACTGTGCCAGAGC
|
Task1_train_19412
|
This alteration in COL4A2 (collagen type IV alpha 2 chain) on Chromosome 13 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Porencephaly 2
|
GTTTCCTACACTTGATCTTAGCCAAAAGGCCGAGAAGCGATGGATTCGCAGTTTCCTAAAGCTGAAGGGTTAGGGGAGAATTAGGGCATGGCTGCCAGCGGCTCCAGGGTTTCATTTTCTGGGATAAAGTGTTCTCAAGTTAGACGGTGCTGCTTGCTCACAGCTCTGTGAGTACACTAAAGTTATGTAATTGTTCTGTTTACTGGAGCGAGTTGTAGGGTATATAAATTATACATCAATAAGCTGTTTTGGAAAACCTTAATTACTCTTCAGACTTACAGCTTTTACAAATTTTCAGCAAAATAAAAATTGCAATCTAGGGTGCTCATTTTTTTTAAGATTTTTACTCACACTTGTGCTTTCAAATAGTCTTCCTGTTAGCAGAGATTTCAGGCTATTTCAGGCAAAAAAAAAAAATGACATTTTAAGATTAAGTAATTTTCAGCTCCATGGTAATTATTTCCTCGAGCCTCCTTAGGGTGAAGTTAACCATGGGGGTGTCTGTCCCTCCACTGGTGGGCACGCTCTGTGGGGTCAGGACCAATTTATGATTTTGATCCCATCAGCCTCTAGCCTAGTACTGAATACACAGTAAATGCTTAGAGACTGAAGCTCAATTATTTTCACTGAGCCAGATTTCACTTACTCCTCCAGTGAGCATGGATTCCGGGGCATCCCCAGCCTGAACTAGCACAGTTTCCCGCCCGGCCCGCAGCTCTGGGCCCCTCCCCTCCTGCAATTTCTCAGCTCCTCAGAACCCCCCGGAGACCTCCCTTCCATGCTTCTCCTCCCTGTGAAGGTGCCTACAGGAGGGCACGGAGCTGGCGCCTGCCTCACGGGCCTTCCTGCTTGTGACCGAGGTCCATCATGGTCTCATCAGAGCACACACAACAAAATGACCTTCTCACAAAGCATCCTATGGGAGTCACACTGGCTTTGACCGCTCCCTCTGCATCTGCTGGCAGGCACGTCCCCCTACTGTGGTGCTGTGTGCTCAGTGACACCAGCCCCAGGCCCAGGACCCTGGAGCCACCCCCAACTCCAACTACTCCGATGGACACAGGAGAGGCTTCTCCGGCGCCCTTGGTCTCTCTCCAAGGCTTCCCTGCTTGGGGGAGACGTGCAGCCCTATGGCTCAGGGACCAGGCCTTCACCTGTGTTCTCCTGCGTGGTCTGGAGCCCCCAGAAAATGACAGCACTCTATTCCCTTCCAGGCAGCCGAGGGGACCCTGGGCCCCCAGGACCACCTCCTGTCATCCTGCCAGGAATGAAAGACATTAAAGGAGAGAAAGGAGATGAAGGGCCTATGGGGCTGAAAGGATACCTGGGCGCAAAAGGTGAGGCTTCTGACCTGCAGCCAGGGGCCCCTAGTCCCTGCCGCCCCAGCCCGCACCAGCTCGTGCCCTTCTCCGTCCCCAGAGACGCCCGTGCCCTCCACCTGGCTTTCTTCGTGCTTTTCATCTCTGGGCGCCCTGTGTGTCCATAGCTGGCGCAGGGTTGTTCTCTGATGCCTGAGTAACCTCGGTTTCCCATCTTAAGATTTGCAGCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTGAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCATGGTGGTGGGCGCCTGTAGTCCCAACTACTTAGGAGGCTGAGGCAGGAGAATGGCGTGAACCGGGGAGGCAGAGCTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTCACAGCACGTAGGACAGCAAAATGCATCCAGGCTGCAAAATTGAAAACTGGAGGGCGGGTGCTGCGTCCTCACCAGAGTGTTACACACCAGGGTCTTCCTGCAGGTATCCAAGGAATGCCAGGCATCCCAGGGCTGTCAGGAATCCCTGGGCTGCCTGGGAGGCCCGGCCACATCAAAGGAGTCAAGGGAGACATCGGAGTCCCCGGCATCCCCGGTTTGCCAGGATTCCCTGGGGTGGCTGGCCCCCCTGGAATTACGGGATTCCCAGGATTCATAGGAAGCCGGGTGAGTGGGCGTCTTTTACTCCCCTTGTTCTGTGAGCTCCTCTCCCCTTTGCTTGTGAATGGACATGCTTTGGTCTGGAATTTGCTAGGGTGAGAGTGTCAGTGGCAGGTTCAGGGCAGCCTCAGGCTTGGTGGGGTCCACACAGCCCTGGAAGGAGCTGCTGCACTTGGACACCATGCAGATGTGATGTGAGTCCAACCGGCTGCCGTGGCCCTTCTGTGGGCTTGTGCTGGGTGAAGCATGTTGTCTGCATTTTTCATGGTGGCCTTGAGAGAACAAAACTTGAATTTTCAGGGATCAGAGCTCTAAAATTGAGCACATCAGTGACACCAGGCCTGAGAGCCCATGGCCGAATCACAGCGTAGACCTGGGCCCGGCAGCCTGGCTTCCCATCCGGGCCACCGTTCACTCAGCCTTTGTTCAGCGGATGTCTGTTGAGCACTTGACATGGGCCAGACACGCTGTTGTGATGGTAACAATGGTGAGCCCTGACCCTGGGCAGGGCTCTCTTCTCCACACCTTCTCCCTCAGCTGCAGAATGAAGGTAGTAGCTACCTTGCAGTTTTCTTGAGTGCTGTATAGACAGTGTGTATAACATAGCACAGCGTGGCTCCCCATAGATTCCGTTTCCTAGAATTCCATTTCTAGCCTCGTTCATATGAAGATAGTGTATTCTCACAGTCCCTAGCACACGGCTGGCCTTCCCAGGGGGATGGGCACATTTGGAGCAGATCAGAAGGTCTGGGCCCCTTGATGTGTTTCAGTCGCGTCCGTGTGAAAAGACCACCAAACAGGCTTTGTGTGAGCAATCAAGCTGTTAATTTCACCTGGGTGCAGGCAGGCTGAGTCTGAAAAGAGAGTCAGCGAAGGGAGATAGGGGTGGGGCCGTTTTATAGGATTTGGGTAGGTAAAGGAAAAAGGGGGGTTGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTAGGGGAGCTTTTGAGCCAGGCTGAGCCAGGAGAAGGAATTTCACAAGATAATGTCATCAGTTAAGGCAGGAACAGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGCAGAAACCGGCCATCTGGATGTGTACGTGCAGGTCACAGGGGATATGATTGCTTAGCTTGGGCTCAGAGGCCTGACAGTGTGAACCCTTAGTAGCAGGCCAGGGCCTGCCTGTGTGTCTGTCTGGCCCACCTTGGTGTACAGAATTCTTCAGGGGTCTTCCTCCCCTCACTCCCAAAATCTGCAGCTGAGAGTATCTTCTAGCCAGTCTGTGTGTGCTATTCAGGTCACTTTAAAAAAGAAAGATGCCAGCCAGGTGCAGTGGCTCTTGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGTGGTCAGGAGATCGAGACTAGCCTGGCCAACAGGGTGAAACCCCGTCTCTACCAAAAATATAAAAAATTAACCGGGTTTGGTGCTGCGCACTCATAATCCCAGCTACTGGGGAGGCCGAGGCGGAAGAATCGCTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCGTTGCACTCCAGCTTGGGTGACAAAGCAAGACTCCATCTCAAAAAAAAGACAAGAAAAAAGAAAGATGCCTGTTTCTGCCAAAGACACCTACAACATCCAAAGGACCTTTATTCATAACAGCTCGAAACTAGGAAACAGCCCAAATGTCCATCAACAGGGAAAAGAATAAATGAACGTGGTATATTCTAACCAGACACAGCATTATCTGTGCATTTTATCTCCATACACAGCAATAAATGAGAATTCTTGGTAAAATCCAACAACCTAACTTCATTTCCAAACTTTATGTTGAACAAAATAAACCAGAAACAGAAAAGTACACGATTCAGTTTCATCGATGTGAAGTTCAAGAACTGACAAGGCTGTTAGATGG
|
GTTTCCTACACTTGATCTTAGCCAAAAGGCCGAGAAGCGATGGATTCGCAGTTTCCTAAAGCTGAAGGGTTAGGGGAGAATTAGGGCATGGCTGCCAGCGGCTCCAGGGTTTCATTTTCTGGGATAAAGTGTTCTCAAGTTAGACGGTGCTGCTTGCTCACAGCTCTGTGAGTACACTAAAGTTATGTAATTGTTCTGTTTACTGGAGCGAGTTGTAGGGTATATAAATTATACATCAATAAGCTGTTTTGGAAAACCTTAATTACTCTTCAGACTTACAGCTTTTACAAATTTTCAGCAAAATAAAAATTGCAATCTAGGGTGCTCATTTTTTTTAAGATTTTTACTCACACTTGTGCTTTCAAATAGTCTTCCTGTTAGCAGAGATTTCAGGCTATTTCAGGCAAAAAAAAAAAATGACATTTTAAGATTAAGTAATTTTCAGCTCCATGGTAATTATTTCCTCGAGCCTCCTTAGGGTGAAGTTAACCATGGGGGTGTCTGTCCCTCCACTGGTGGGCACGCTCTGTGGGGTCAGGACCAATTTATGATTTTGATCCCATCAGCCTCTAGCCTAGTACTGAATACACAGTAAATGCTTAGAGACTGAAGCTCAATTATTTTCACTGAGCCAGATTTCACTTACTCCTCCAGTGAGCATGGATTCCGGGGCATCCCCAGCCTGAACTAGCACAGTTTCCCGCCCGGCCCGCAGCTCTGGGCCCCTCCCCTCCTGCAATTTCTCAGCTCCTCAGAACCCCCCGGAGACCTCCCTTCCATGCTTCTCCTCCCTGTGAAGGTGCCTACAGGAGGGCACGGAGCTGGCGCCTGCCTCACGGGCCTTCCTGCTTGTGACCGAGGTCCATCATGGTCTCATCAGAGCACACACAACAAAATGACCTTCTCACAAAGCATCCTATGGGAGTCACACTGGCTTTGACCGCTCCCTCTGCATCTGCTGGCAGGCACGTCCCCCTACTGTGGTGCTGTGTGCTCAGTGACACCAGCCCCAGGCCCAGGACCCTGGAGCCACCCCCAACTCCAACTACTCCGATGGACACAGGAGAGGCTTCTCCGGCGCCCTTGGTCTCTCTCCAAGGCTTCCCTGCTTGGGGGAGACGTGCAGCCCTATGGCTCAGGGACCAGGCCTTCACCTGTGTTCTCCTGCGTGGTCTGGAGCCCCCAGAAAATGACAGCACTCTATTCCCTTCCAGGCAGCCGAGGGGACCCTGGGCCCCCAGGACCACCTCCTGTCATCCTGCCAGGAATGAAAGACATTAAAGGAGAGAAAGGAGATGAAGGGCCTATGGGGCTGAAAGGATACCTGGGCGCAAAAGGTGAGGCTTCTGACCTGCAGCCAGGGGCCCCTAGTCCCTGCCGCCCCAGCCCGCACCAGCTCGTGCCCTTCTCCGTCCCCAGAGACGCCCGTGCCCTCCACCTGGCTTTCTTCGTGCTTTTCATCTCTGGGCGCCCTGTGTGTCCATAGCTGGCGCAGGGTTGTTCTCTGATGCCTGAGTAACCTCGGTTTCCCATCTTAAGATTTGCAGCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTGAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGCATGGTGGTGGGCGCCTGTAGTCCCAACTACTTAGGAGGCTGAGGCAGGAGAATGGCGTGAACCGGGGAGGCAGAGCTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTCACAGCACGTAGGACAGCAAAATGCATCCAGGCTGCAAAATTGAAAACTGGAGGGCGGGTGCTGCGTCCTCACCAGAGTGTTACACACCAGGGTCTTCCTGCAGGTATCCAAGGAATGCCAGGCATCCCAGGGCTGTCAGGAATCCCTGGGCTGCCTGGGAGGCCCGGCCACATCAAAGGAGTCAAGGAAGACATCGGAGTCCCCGGCATCCCCGGTTTGCCAGGATTCCCTGGGGTGGCTGGCCCCCCTGGAATTACGGGATTCCCAGGATTCATAGGAAGCCGGGTGAGTGGGCGTCTTTTACTCCCCTTGTTCTGTGAGCTCCTCTCCCCTTTGCTTGTGAATGGACATGCTTTGGTCTGGAATTTGCTAGGGTGAGAGTGTCAGTGGCAGGTTCAGGGCAGCCTCAGGCTTGGTGGGGTCCACACAGCCCTGGAAGGAGCTGCTGCACTTGGACACCATGCAGATGTGATGTGAGTCCAACCGGCTGCCGTGGCCCTTCTGTGGGCTTGTGCTGGGTGAAGCATGTTGTCTGCATTTTTCATGGTGGCCTTGAGAGAACAAAACTTGAATTTTCAGGGATCAGAGCTCTAAAATTGAGCACATCAGTGACACCAGGCCTGAGAGCCCATGGCCGAATCACAGCGTAGACCTGGGCCCGGCAGCCTGGCTTCCCATCCGGGCCACCGTTCACTCAGCCTTTGTTCAGCGGATGTCTGTTGAGCACTTGACATGGGCCAGACACGCTGTTGTGATGGTAACAATGGTGAGCCCTGACCCTGGGCAGGGCTCTCTTCTCCACACCTTCTCCCTCAGCTGCAGAATGAAGGTAGTAGCTACCTTGCAGTTTTCTTGAGTGCTGTATAGACAGTGTGTATAACATAGCACAGCGTGGCTCCCCATAGATTCCGTTTCCTAGAATTCCATTTCTAGCCTCGTTCATATGAAGATAGTGTATTCTCACAGTCCCTAGCACACGGCTGGCCTTCCCAGGGGGATGGGCACATTTGGAGCAGATCAGAAGGTCTGGGCCCCTTGATGTGTTTCAGTCGCGTCCGTGTGAAAAGACCACCAAACAGGCTTTGTGTGAGCAATCAAGCTGTTAATTTCACCTGGGTGCAGGCAGGCTGAGTCTGAAAAGAGAGTCAGCGAAGGGAGATAGGGGTGGGGCCGTTTTATAGGATTTGGGTAGGTAAAGGAAAAAGGGGGGTTGTTCTCTGGCGGGCAGGAGTGGGGGTCACAAGGTGCTCAGTAGGGGAGCTTTTGAGCCAGGCTGAGCCAGGAGAAGGAATTTCACAAGATAATGTCATCAGTTAAGGCAGGAACAGGCCATTTTCACTTCTTTTGTGGTGGAATGTCATCAGTTAAGGCAGAAACCGGCCATCTGGATGTGTACGTGCAGGTCACAGGGGATATGATTGCTTAGCTTGGGCTCAGAGGCCTGACAGTGTGAACCCTTAGTAGCAGGCCAGGGCCTGCCTGTGTGTCTGTCTGGCCCACCTTGGTGTACAGAATTCTTCAGGGGTCTTCCTCCCCTCACTCCCAAAATCTGCAGCTGAGAGTATCTTCTAGCCAGTCTGTGTGTGCTATTCAGGTCACTTTAAAAAAGAAAGATGCCAGCCAGGTGCAGTGGCTCTTGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGTGGTCAGGAGATCGAGACTAGCCTGGCCAACAGGGTGAAACCCCGTCTCTACCAAAAATATAAAAAATTAACCGGGTTTGGTGCTGCGCACTCATAATCCCAGCTACTGGGGAGGCCGAGGCGGAAGAATCGCTGGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCGTTGCACTCCAGCTTGGGTGACAAAGCAAGACTCCATCTCAAAAAAAAGACAAGAAAAAAGAAAGATGCCTGTTTCTGCCAAAGACACCTACAACATCCAAAGGACCTTTATTCATAACAGCTCGAAACTAGGAAACAGCCCAAATGTCCATCAACAGGGAAAAGAATAAATGAACGTGGTATATTCTAACCAGACACAGCATTATCTGTGCATTTTATCTCCATACACAGCAATAAATGAGAATTCTTGGTAAAATCCAACAACCTAACTTCATTTCCAAACTTTATGTTGAACAAAATAAACCAGAAACAGAAAAGTACACGATTCAGTTTCATCGATGTGAAGTTCAAGAACTGACAAGGCTGTTAGATGG
|
Task1_train_19413
|
A variant was discovered on Chromosome 13, affecting COL4A2 (collagen type IV alpha 2 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; not provided
|
GTAAAATCCAACAACCTAACTTCATTTCCAAACTTTATGTTGAACAAAATAAACCAGAAACAGAAAAGTACACGATTCAGTTTCATCGATGTGAAGTTCAAGAACTGACAAGGCTGTTAGATGGGGTATCGGGAGCACAGCTGCTTTAGGTGGGGTTGTCATAGAGTGCTGACAGTGTTCTGTGTCTTTCAGTGACACACGAGTTCAGATGCATTGAGCTGTGCGTTTAAGATGAGTGGACATTACTGTATTTAAGTTTTGCTTCAGAAAAGTAAGCTTTGAGAAAGAAAAATAGAGCATTACCTAAACAAAGGTGCAGCCTGTGGATACCCTCCCCCTTCCTCCCACAAAGGAGCTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTAGCTCACTGCAACCACTGCCTCCTGGTTCAAGCGATTCCCCTGCCACAGCCTCCCAAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTCTAGGCCTGAGCCACCACCCCCGGCCTAGCTATATTAATACTGCAGCGACTCATGTTAGGCCATGCTTGTACATTGATGCTGTAGTACTAAAGTCCCAGTGGCACCCAGGTAGACCAGAACTCTCATGCTCCCTCTGGGGAGGAAGCCACTCTGGAGGGGAAAACTAGGGCTTCCAGGAAGCCACCGAGCAACTCAGGCATCTTCTCAATTTCCTTACCAGCCACCTGTGTCTTTCTGGAGAAGTCTCCCTCTGTGCACAGATGGAGGCGCACAGCCCCATATCTGTGTTATAATCTGCAGAGAGCAAGCTCTGCAGTCTGGCTGCCCAAACTGAAATCCCGGTTCTGCCACTTGCTGGCTGAGTGACCTTAAGCAAAACCTTTCTGTGCTTCAGTTCCTTTGCCTGTCATTGGGAAGTAACGGTGCCTGCCTGGCAGGGTTTTCATGAGGCGTGAATACGCTCTTGAGACGGGGTCCACCATGTGCACGCGGGAAAGCATGGTGGAGCGAGGATGTAGTCAGAGTCACCGCCGCCGCTGACATCACCACACTGTCGTGATGGAGACCTGGGCCACTGATGCTCTTCATTATGATGCAGTTGCCAAGCTTGTTTCATTGTATCACTTCACAGTTCCATAAGAACAGCAAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCAGAGGAGAGAGAATCACTTGAACCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGCAAGAGCCCATCTCTACTAAAAATTTAAAAACTATTAGCAGCCAGGCTTAGTGGCTCACACCTGTAATCCCAGCTGCACAGGAGGCTGAGACGGAAGGATGACTTGAGCCCAGGAAATCAAGGCAACATTGAGCTATGATTGTGCTTCTGCACTCCAGCCAGGGTGACAGACTGCGATCCTGTCTCAAAGAAATAAATAAATAAATAAACAAAAAGAACAGCTAAGCAAACCGCCTATGATACACACTAAAAAACACGAGTTTTCCACAAAATGACAAGATCACAAACCTTGAGTATTGTCGTTAGCATACTGGATAGTTAAATAAGTGAGCTAACTTCAGAGTTACAACTGACTTCGCTAACAGCCTTCTAAGATGGTTCATGTCTGTCTTTAGGGTGACAAAGGTGCCCCAGGGAGAGCAGGCCTGTATGGCGAGATTGGCGCGACTGGTGATTTCGGTGAGTGTTGCCCGTCCAGTGAAAACAGGGAGTCCACAATTCAGAGCTCTCTGAGCATGTGAGCCAATTTCAGACCTGCAAGTGCTGTTAGGTATTTTAAAACAAATTATTCTTGTTAGGAATATAACAAAATAGAAGTTGCAAAACTCACAAAGTCCCAGTGGAAAGTCCTGTTCTTAGCCGTCTTTTTTGCATGTAACAGGTGACATCGGGGACACTATAAATTTACCAGGAAGACCAGGCCTGAAGGGGGAGCGGGGCACCACTGGAATACCAGGTACGCAAGTTATTTTCCTTGTCTTCATCTTCAACAACAGCCCTGAGCCTTTGTCTAGGAGCCCGACTTGCCAAACAGATCAAATTCAGTAACAACCAGAAAGCACTTGATAGTGAATGAGGTCTTCAAGTCCAATGTGCAAGAAAGACCGTCGTTTTTAATTAAGTTAAATCTGAAGATAAAATCAGGAAGTCTTTCTCTCTCTCTGTCTCTCTCTTTGATACTGAAAAAAGCCAGAATGGACCCTCGGTGGATGAGAATCACTGCAGTCCATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGACCCCACACTGCTCAAGTTGCTGGAGCCCCAGGGGCTTGCAGGGCTGGCCCTGGTGGGAGGGAAGGAGTCTGTCCAGGGTTGGCCAGTGGGGAGACTGCTGGGCCAGTTCTTTATCTAGAAATTGCTCTGGAATGGAAAGACGTGTTCAGTTGAGCACAGGATCAGAGAACCGCCGCTGGGAAATAGGCGCCTCTGTTTACCAGCCCTCCCGGGCTCCTTTGTTATCTGTGACCTGGGCTCCCGGTGGCTTCCTCCTGAGTGACGGGAGCTCTGTACTGCTGAGCCATCCGGCGCTGGGCTGGCTGTGTCTGCCACCCTAGGCCATTAGTCCGGCCATTTGGTTTATAAACACAGAAACGTGGACCATCATTACCACGCGTCTCTAATGATGCCTTCACTTGTTCAACTGAAAATGTGTCAGGGAAGAGACGCTACCCCCACCCAAGAATTATTTTTGCTGTTACCTTTGAACATTTTGGTTTTTGTTAAACTCTGGGCCCAGAAAGGCTTTGGAGTGGAGCCTCCCCTGCATCCATCACCAGAAGACGGTATTTCGGAGCTGTGGTCCCACAATGGAAGGGTGGGGCCAGCTGTACCCATCATCCCTGGGGGTGTCCTGTTTTCCCTAAGACAGTGAGGGGTGCATGGGTACATGGGTGCTGCCTTGGAAGCTGGCTAGTGCAGGCTCAGAGGGAGGAAGTAGGTTAAAAATCAGCTAAGGAAGGAGCACGGTTGGATGCCTCTCTCCATTCCTGAAGGAGCAGCAGTGTGGTTCTGCACATCCTAGAGCCGGGGTTCCAGGGAACCCACAGGGGCGCGGTGTCTGTTTGTTCCAAGCAGCATGTCTGTGGTTGCAGGTCTGAAGGGATTCTTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCAAGGCCCTCCTGGACTTAAAGGACAAACAGGTAAAATCTCCCGCAGCCACACAGCCTTCCTCAGGCAGGCCCTCCGGAGACCCCAGAACAAAGGCGGTCAACATTGTCAATTTCCTCCAATCACACCCAACCCTGGAAGCTCACTCGTGCCTGCTGCCAGCTTAGGAGCTTTCCTCAGTGCTGATGGCATGGAGAGAAACAACCACCTGGGCTGGGGGGAGACCTGAGAATTGGAGAGAAGCATGGGGGTGAATGAGAAGTGCCTCTTCGGTTGAGCCTCTGTCTCTCATATAGAAGCCGACGGTTTGTAAGGGATCCCTTTGCTTGCATTGAATATGCAGAAACCCCTATGAACATCCTAGGTTAGAGAAGGAGAGCGGACAGTGGGCTGGCTTCCCACGCTGTTGCTGCTGCTGCTTTCTGTGTTTACTCAGCACCGGGGAATGCC
|
GTAAAATCCAACAACCTAACTTCATTTCCAAACTTTATGTTGAACAAAATAAACCAGAAACAGAAAAGTACACGATTCAGTTTCATCGATGTGAAGTTCAAGAACTGACAAGGCTGTTAGATGGGGTATCGGGAGCACAGCTGCTTTAGGTGGGGTTGTCATAGAGTGCTGACAGTGTTCTGTGTCTTTCAGTGACACACGAGTTCAGATGCATTGAGCTGTGCGTTTAAGATGAGTGGACATTACTGTATTTAAGTTTTGCTTCAGAAAAGTAAGCTTTGAGAAAGAAAAATAGAGCATTACCTAAACAAAGGTGCAGCCTGTGGATACCCTCCCCCTTCCTCCCACAAAGGAGCTTTTGTTTTGTTTTGTTTTGTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTAGCTCACTGCAACCACTGCCTCCTGGTTCAAGCGATTCCCCTGCCACAGCCTCCCAAGTAGCTGGGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGCAGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTCTAGGCCTGAGCCACCACCCCCGGCCTAGCTATATTAATACTGCAGCGACTCATGTTAGGCCATGCTTGTACATTGATGCTGTAGTACTAAAGTCCCAGTGGCACCCAGGTAGACCAGAACTCTCATGCTCCCTCTGGGGAGGAAGCCACTCTGGAGGGGAAAACTAGGGCTTCCAGGAAGCCACCGAGCAACTCAGGCATCTTCTCAATTTCCTTACCAGCCACCTGTGTCTTTCTGGAGAAGTCTCCCTCTGTGCACAGATGGAGGCGCACAGCCCCATATCTGTGTTATAATCTGCAGAGAGCAAGCTCTGCAGTCTGGCTGCCCAAACTGAAATCCCGGTTCTGCCACTTGCTGGCTGAGTGACCTTAAGCAAAACCTTTCTGTGCTTCAGTTCCTTTGCCTGTCATTGGGAAGTAACGGTGCCTGCCTGGCAGGGTTTTCATGAGGCGTGAATACGCTCTTGAGACGGGGTCCACCATGTGCACGCGGGAAAGCATGGTGGAGCGAGGATGTAGTCAGAGTCACCGCCGCCGCTGACATCACCACACTGTCGTGATGGAGACCTGGGCCACTGATGCTCTTCATTATGATGCAGTTGCCAAGCTTGTTTCATTGTATCACTTCACAGTTCCATAAGAACAGCAAGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCAGAGGAGAGAGAATCACTTGAACCCAGGAGTTCAAGACCAGCCTGGGCAACAGAGCAAGAGCCCATCTCTACTAAAAATTTAAAAACTATTAGCAGCCAGGCTTAGTGGCTCACACCTGTAATCCCAGCTGCACAGGAGGCTGAGACGGAAGGATGACTTGAGCCCAGGAAATCAAGGCAACATTGAGCTATGATTGTGCTTCTGCACTCCAGCCAGGGTGACAGACTGCGATCCTGTCTCAAAGAAATAAATAAATAAATAAACAAAAAGAACAGCTAAGCAAACCGCCTATGATACACACTAAAAAACACGAGTTTTCCACAAAATGACAAGATCACAAACCTTGAGTATTGTCGTTAGCATACTGGATAGTTAAATAAGTGAGCTAACTTCAGAGTTACAACTGACTTCGCTAACAGCCTTCTAAGATGGTTCATGTCTGTCTTTAGGGTGACAAAGGTGCCCCAGGGAGAGCAGGCCTGTATGGCGAGATTGGCGCGACTGGTGATTTCGGTGAGTGTTGCCCGTCCAGTGAAAACAGGGAGTCCACAATTCAGAGCTCTCTGAGCATGTGAGCCAATTTCAGACCTGCAAGTGCTGTTAGGTATTTTAAAACAAATTATTCTTGTTAGGAATATAACAAAATAGAAGTTGCAAAACTCACAAAGTCCCAGTGGAAAGTCCTGTTCTTAGCCGTCTTTTTTGCATGTAACAGATGACATCGGGGACACTATAAATTTACCAGGAAGACCAGGCCTGAAGGGGGAGCGGGGCACCACTGGAATACCAGGTACGCAAGTTATTTTCCTTGTCTTCATCTTCAACAACAGCCCTGAGCCTTTGTCTAGGAGCCCGACTTGCCAAACAGATCAAATTCAGTAACAACCAGAAAGCACTTGATAGTGAATGAGGTCTTCAAGTCCAATGTGCAAGAAAGACCGTCGTTTTTAATTAAGTTAAATCTGAAGATAAAATCAGGAAGTCTTTCTCTCTCTCTGTCTCTCTCTTTGATACTGAAAAAAGCCAGAATGGACCCTCGGTGGATGAGAATCACTGCAGTCCATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGACCCCACACTGCTCAAGTTGCTGGAGCCCCAGGGGCTTGCAGGGCTGGCCCTGGTGGGAGGGAAGGAGTCTGTCCAGGGTTGGCCAGTGGGGAGACTGCTGGGCCAGTTCTTTATCTAGAAATTGCTCTGGAATGGAAAGACGTGTTCAGTTGAGCACAGGATCAGAGAACCGCCGCTGGGAAATAGGCGCCTCTGTTTACCAGCCCTCCCGGGCTCCTTTGTTATCTGTGACCTGGGCTCCCGGTGGCTTCCTCCTGAGTGACGGGAGCTCTGTACTGCTGAGCCATCCGGCGCTGGGCTGGCTGTGTCTGCCACCCTAGGCCATTAGTCCGGCCATTTGGTTTATAAACACAGAAACGTGGACCATCATTACCACGCGTCTCTAATGATGCCTTCACTTGTTCAACTGAAAATGTGTCAGGGAAGAGACGCTACCCCCACCCAAGAATTATTTTTGCTGTTACCTTTGAACATTTTGGTTTTTGTTAAACTCTGGGCCCAGAAAGGCTTTGGAGTGGAGCCTCCCCTGCATCCATCACCAGAAGACGGTATTTCGGAGCTGTGGTCCCACAATGGAAGGGTGGGGCCAGCTGTACCCATCATCCCTGGGGGTGTCCTGTTTTCCCTAAGACAGTGAGGGGTGCATGGGTACATGGGTGCTGCCTTGGAAGCTGGCTAGTGCAGGCTCAGAGGGAGGAAGTAGGTTAAAAATCAGCTAAGGAAGGAGCACGGTTGGATGCCTCTCTCCATTCCTGAAGGAGCAGCAGTGTGGTTCTGCACATCCTAGAGCCGGGGTTCCAGGGAACCCACAGGGGCGCGGTGTCTGTTTGTTCCAAGCAGCATGTCTGTGGTTGCAGGTCTGAAGGGATTCTTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCAAGGCCCTCCTGGACTTAAAGGACAAACAGGTAAAATCTCCCGCAGCCACACAGCCTTCCTCAGGCAGGCCCTCCGGAGACCCCAGAACAAAGGCGGTCAACATTGTCAATTTCCTCCAATCACACCCAACCCTGGAAGCTCACTCGTGCCTGCTGCCAGCTTAGGAGCTTTCCTCAGTGCTGATGGCATGGAGAGAAACAACCACCTGGGCTGGGGGGAGACCTGAGAATTGGAGAGAAGCATGGGGGTGAATGAGAAGTGCCTCTTCGGTTGAGCCTCTGTCTCTCATATAGAAGCCGACGGTTTGTAAGGGATCCCTTTGCTTGCATTGAATATGCAGAAACCCCTATGAACATCCTAGGTTAGAGAAGGAGAGCGGACAGTGGGCTGGCTTCCCACGCTGTTGCTGCTGCTGCTTTCTGTGTTTACTCAGCACCGGGGAATGCC
|
Task1_train_19414
|
Here’s a variant in COL4A2 (collagen type IV alpha 2 chain) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Porencephaly 2
|
GAATGGACCCTCGGTGGATGAGAATCACTGCAGTCCATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGACCCCACACTGCTCAAGTTGCTGGAGCCCCAGGGGCTTGCAGGGCTGGCCCTGGTGGGAGGGAAGGAGTCTGTCCAGGGTTGGCCAGTGGGGAGACTGCTGGGCCAGTTCTTTATCTAGAAATTGCTCTGGAATGGAAAGACGTGTTCAGTTGAGCACAGGATCAGAGAACCGCCGCTGGGAAATAGGCGCCTCTGTTTACCAGCCCTCCCGGGCTCCTTTGTTATCTGTGACCTGGGCTCCCGGTGGCTTCCTCCTGAGTGACGGGAGCTCTGTACTGCTGAGCCATCCGGCGCTGGGCTGGCTGTGTCTGCCACCCTAGGCCATTAGTCCGGCCATTTGGTTTATAAACACAGAAACGTGGACCATCATTACCACGCGTCTCTAATGATGCCTTCACTTGTTCAACTGAAAATGTGTCAGGGAAGAGACGCTACCCCCACCCAAGAATTATTTTTGCTGTTACCTTTGAACATTTTGGTTTTTGTTAAACTCTGGGCCCAGAAAGGCTTTGGAGTGGAGCCTCCCCTGCATCCATCACCAGAAGACGGTATTTCGGAGCTGTGGTCCCACAATGGAAGGGTGGGGCCAGCTGTACCCATCATCCCTGGGGGTGTCCTGTTTTCCCTAAGACAGTGAGGGGTGCATGGGTACATGGGTGCTGCCTTGGAAGCTGGCTAGTGCAGGCTCAGAGGGAGGAAGTAGGTTAAAAATCAGCTAAGGAAGGAGCACGGTTGGATGCCTCTCTCCATTCCTGAAGGAGCAGCAGTGTGGTTCTGCACATCCTAGAGCCGGGGTTCCAGGGAACCCACAGGGGCGCGGTGTCTGTTTGTTCCAAGCAGCATGTCTGTGGTTGCAGGTCTGAAGGGATTCTTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCAAGGCCCTCCTGGACTTAAAGGACAAACAGGTAAAATCTCCCGCAGCCACACAGCCTTCCTCAGGCAGGCCCTCCGGAGACCCCAGAACAAAGGCGGTCAACATTGTCAATTTCCTCCAATCACACCCAACCCTGGAAGCTCACTCGTGCCTGCTGCCAGCTTAGGAGCTTTCCTCAGTGCTGATGGCATGGAGAGAAACAACCACCTGGGCTGGGGGGAGACCTGAGAATTGGAGAGAAGCATGGGGGTGAATGAGAAGTGCCTCTTCGGTTGAGCCTCTGTCTCTCATATAGAAGCCGACGGTTTGTAAGGGATCCCTTTGCTTGCATTGAATATGCAGAAACCCCTATGAACATCCTAGGTTAGAGAAGGAGAGCGGACAGTGGGCTGGCTTCCCACGCTGTTGCTGCTGCTGCTTTCTGTGTTTACTCAGCACCGGGGAATGCCAAGAGGCTCATCTCTCCAGGCACTGCCTCAGGGTCCTCTCCAGACGTCTATTTGGATAATAGGGCGACAATTAAAACTACACGCTATTTTCTCTCTGGCAAGGCTGAGCAAATCCTATTGAATTTGTATGTGGGGTCTAAGACCACCTGCATCCCCAGCTTGAGGGACAGTTCTAATCTCTCCTCCAACTGGCACTGCGGCCCTTCCGGCCCTCGGCCCCTCCCAGAGCGGCTGCCCCTCCTGCCAGGACCTCACCACACAGCGCCCAAGGTGTCCTGTGTGCTCAGACTTAATGCTGTGTTCACCCCCAGGCTTTCCAGGGCTGACTGGGCCTCCAGGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGGCCGGGAGCTCCGGGCTTACCAGGTAAGGTCACGTAAAACACGTGGTCACCCAGACCCAGAGTCGTGGGCTGTGCAGGAGGCACCGCTGAGCAGGCCAGCCTCTCTCAGGGCGACTTCTAAGGCCCATACGAGAGCAAAGGCAGGTCTGCTGTGGCTTACGGTGGTCTGCACCAACATAGCAGCACAGGGTATACTGGCGCCCCAGGCAACTGGGAATCAAGCCAGATGCACAAATCTGCCCAGGGCTTCACCTCCCAGAAGGATGAATGAAAGCCTCCCAGAGAGGCTTCAGGGTCCACTTGTCATCGCCACACAGGGACGCACAGCAAGATCAGGGTGCAGGAGCAGCCTCAGTGTACCACTGTGCTGCACGGGCCACCCCCGGGGCCTCCTTACAGCCCCGAGACGGGCCACCCTGCCATGCTCACTGCCCATGTAACAGAAGGAATTGCCACCTGTTTGCTGTGTCCTGCTTTAGAAATATTTACCCTCAGAAATCCAGAGGGAATGGAAATGACACCGGGCTATTTGTTCCAAGCAGCTTTTACAAACCAAACATACAGCAGTGGCGAGGCGTCAAGAAGAGGCATGGGACATGTCACTCCCCAGGCCCCTTCTGGCCTAGTGAGTCTGTTAAAAAGATTCTATGAAGACAGTGTTCCAGTTCAATGGTGTTCCTAGGTAACATAAGAGTGCTTAGTTTACATGTCGTGTAAGTTGAGCGTGTGGCTTAGCTGCTTCCTATTTGTGGGGCTTTAGCAGGATTGTATGGGTGACAGTATCAGGTGACAGTTTCAGAGCCAACAAAACACATCTGAGTTATCTTGAGGGTTTCTCCCACCCAGAACCCCCTGTGCTGTCCCACACATGAAATAACAATGAGTGACACCCCCACAGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGCTTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAGGTACTCTGTGCCGTCCCAGCCCCGAGTCCCACGCAGAGGTGTCGAGGGTGGGGACTCTGTGCTGAGTCTGCCCTCCAGACTTCAGGGAATGGAGGGTCTCAGAGAGCAGGGTGGGCTTCCTGAAGTGCTATGCGATCGGCCGTGAGGGGCGGGTCCGGGCCCTGTGGTCCTGTACGCTGCTAAGATGTGATCCCTAAGAATCGGTTTCTCAAGGCAGTTGCTGGGTTGAATGGACTCATCAGGCTTTTAGACGGAGAGAGAAATAGAGTCCTTGCTTTTTCAGCAGCACCGTTGGGAGGGTGGGATGCACCTGCGCCCCTCAGGTGTCTGGAGTGTTCACTCTGCCCATTGCCTGTCTGTGATCTTTCATTTTGTTGGCCTAAGGAAGCCAGCGGTTTCCACCTGCCCCTGGGCAGTTCTGATGCTGGAGACAGTGATAGCGCTTGGGCACCCACAGGCTGGGAGCCAAAAACAACCAAAATGGGTTTCCTCCCAGTTCTGGAGGCTGGGATCAGCATGCCAGCGTGGTCGGGTTCTGGGGGGGGCCGCGTCCTGGCTGCTCGCTGTGTCCTCACGAGGGAGAGCACCCGCTCTCCCCTGTCACTTCTTATAAGGGCAGTAACCCCATCTTGGGGCCCCACCCTCATGACCTGGCCTAACCCTAATCACCTCCCAAAGGCCCCTGCTCCAAATGCCATCACACTGGAGTTAGGGCTTCCACTTAGGAACTTTGGGGTTGGGGAGAATGACACAATCAGTCCATAGCAAGGTGAACCAAGGGCTTCTTACCACAGGAAAAAGAAACTAACAACTTTCATAGCACTTTCTGGCTTAT
|
GAATGGACCCTCGGTGGATGAGAATCACTGCAGTCCATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGACCCCACACTGCTCAAGTTGCTGGAGCCCCAGGGGCTTGCAGGGCTGGCCCTGGTGGGAGGGAAGGAGTCTGTCCAGGGTTGGCCAGTGGGGAGACTGCTGGGCCAGTTCTTTATCTAGAAATTGCTCTGGAATGGAAAGACGTGTTCAGTTGAGCACAGGATCAGAGAACCGCCGCTGGGAAATAGGCGCCTCTGTTTACCAGCCCTCCCGGGCTCCTTTGTTATCTGTGACCTGGGCTCCCGGTGGCTTCCTCCTGAGTGACGGGAGCTCTGTACTGCTGAGCCATCCGGCGCTGGGCTGGCTGTGTCTGCCACCCTAGGCCATTAGTCCGGCCATTTGGTTTATAAACACAGAAACGTGGACCATCATTACCACGCGTCTCTAATGATGCCTTCACTTGTTCAACTGAAAATGTGTCAGGGAAGAGACGCTACCCCCACCCAAGAATTATTTTTGCTGTTACCTTTGAACATTTTGGTTTTTGTTAAACTCTGGGCCCAGAAAGGCTTTGGAGTGGAGCCTCCCCTGCATCCATCACCAGAAGACGGTATTTCGGAGCTGTGGTCCCACAATGGAAGGGTGGGGCCAGCTGTACCCATCATCCCTGGGGGTGTCCTGTTTTCCCTAAGACAGTGAGGGGTGCATGGGTACATGGGTGCTGCCTTGGAAGCTGGCTAGTGCAGGCTCAGAGGGAGGAAGTAGGTTAAAAATCAGCTAAGGAAGGAGCACGGTTGGATGCCTCTCTCCATTCCTGAAGGAGCAGCAGTGTGGTTCTGCACATCCTAGAGCCGGGGTTCCAGGGAACCCACAGGGGCGCGGTGTCTGTTTGTTCCAAGCAGCATGTCTGTGGTTGCAGGTCTGAAGGGATTCTTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCAAGGCCCTCCTGGACTTAAAGGACAAACAGGTAAAATCTCCCGCAGCCACACAGCCTTCCTCAGGCAGGCCCTCCGGAGACCCCAGAACAAAGGCGGTCAACATTGTCAATTTCCTCCAATCACACCCAACCCTGGAAGCTCACTCGTGCCTGCTGCCAGCTTAGGAGCTTTCCTCAGTGCTGATGGCATGGAGAGAAACAACCACCTGGGCTGGGGGGAGACCTGAGAATTGGAGAGAAGCATGGGGGTGAATGAGAAGTGCCTCTTCGGTTGAGCCTCTGTCTCTCATATAGAAGCCGACGGTTTGTAAGGGATCCCTTTGCTTGCATTGAATATGCAGAAACCCCTATGAACATCCTAGGTTAGAGAAGGAGAGCGGACAGTGGGCTGGCTTCCCACGCTGTTGCTGCTGCTGCTTTCTGTGTTTACTCAGCACCGGGGAATGCCAAGAGGCTCATCTCTCCAGGCACTGCCTCAGGGTCCTCTCCAGACGTCTATTTGGATAATAGGGCGACAATTAAAACTACACGCTATTTTCTCTCTGGCAAGGCTGAGCAAATCCTATTGAATTTGTATGTGGGGTCTAAGACCACCTGCATCCCCAGCTTGAGGGACAGTTCTAATCTCTCCTCCAACTGGCACTGCGGCCCTTCCGGCCCTCGGCCCCTCCCAGAGCGGCTGCCCCTCCTGCCAGGACCTCACCACACAGCGCCCAAGGTGTCCTGTGTGCTCAGACTTAATGCTGTGTTCACCCCCAGACTTTCCAGGGCTGACTGGGCCTCCAGGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGGCCGGGAGCTCCGGGCTTACCAGGTAAGGTCACGTAAAACACGTGGTCACCCAGACCCAGAGTCGTGGGCTGTGCAGGAGGCACCGCTGAGCAGGCCAGCCTCTCTCAGGGCGACTTCTAAGGCCCATACGAGAGCAAAGGCAGGTCTGCTGTGGCTTACGGTGGTCTGCACCAACATAGCAGCACAGGGTATACTGGCGCCCCAGGCAACTGGGAATCAAGCCAGATGCACAAATCTGCCCAGGGCTTCACCTCCCAGAAGGATGAATGAAAGCCTCCCAGAGAGGCTTCAGGGTCCACTTGTCATCGCCACACAGGGACGCACAGCAAGATCAGGGTGCAGGAGCAGCCTCAGTGTACCACTGTGCTGCACGGGCCACCCCCGGGGCCTCCTTACAGCCCCGAGACGGGCCACCCTGCCATGCTCACTGCCCATGTAACAGAAGGAATTGCCACCTGTTTGCTGTGTCCTGCTTTAGAAATATTTACCCTCAGAAATCCAGAGGGAATGGAAATGACACCGGGCTATTTGTTCCAAGCAGCTTTTACAAACCAAACATACAGCAGTGGCGAGGCGTCAAGAAGAGGCATGGGACATGTCACTCCCCAGGCCCCTTCTGGCCTAGTGAGTCTGTTAAAAAGATTCTATGAAGACAGTGTTCCAGTTCAATGGTGTTCCTAGGTAACATAAGAGTGCTTAGTTTACATGTCGTGTAAGTTGAGCGTGTGGCTTAGCTGCTTCCTATTTGTGGGGCTTTAGCAGGATTGTATGGGTGACAGTATCAGGTGACAGTTTCAGAGCCAACAAAACACATCTGAGTTATCTTGAGGGTTTCTCCCACCCAGAACCCCCTGTGCTGTCCCACACATGAAATAACAATGAGTGACACCCCCACAGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGCTTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAGGTACTCTGTGCCGTCCCAGCCCCGAGTCCCACGCAGAGGTGTCGAGGGTGGGGACTCTGTGCTGAGTCTGCCCTCCAGACTTCAGGGAATGGAGGGTCTCAGAGAGCAGGGTGGGCTTCCTGAAGTGCTATGCGATCGGCCGTGAGGGGCGGGTCCGGGCCCTGTGGTCCTGTACGCTGCTAAGATGTGATCCCTAAGAATCGGTTTCTCAAGGCAGTTGCTGGGTTGAATGGACTCATCAGGCTTTTAGACGGAGAGAGAAATAGAGTCCTTGCTTTTTCAGCAGCACCGTTGGGAGGGTGGGATGCACCTGCGCCCCTCAGGTGTCTGGAGTGTTCACTCTGCCCATTGCCTGTCTGTGATCTTTCATTTTGTTGGCCTAAGGAAGCCAGCGGTTTCCACCTGCCCCTGGGCAGTTCTGATGCTGGAGACAGTGATAGCGCTTGGGCACCCACAGGCTGGGAGCCAAAAACAACCAAAATGGGTTTCCTCCCAGTTCTGGAGGCTGGGATCAGCATGCCAGCGTGGTCGGGTTCTGGGGGGGGCCGCGTCCTGGCTGCTCGCTGTGTCCTCACGAGGGAGAGCACCCGCTCTCCCCTGTCACTTCTTATAAGGGCAGTAACCCCATCTTGGGGCCCCACCCTCATGACCTGGCCTAACCCTAATCACCTCCCAAAGGCCCCTGCTCCAAATGCCATCACACTGGAGTTAGGGCTTCCACTTAGGAACTTTGGGGTTGGGGAGAATGACACAATCAGTCCATAGCAAGGTGAACCAAGGGCTTCTTACCACAGGAAAAAGAAACTAACAACTTTCATAGCACTTTCTGGCTTAT
|
Task1_train_19415
|
This is a variant in COL4A2 (collagen type IV alpha 2 chain), located on Chromosome 13. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
CATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGACCCCACACTGCTCAAGTTGCTGGAGCCCCAGGGGCTTGCAGGGCTGGCCCTGGTGGGAGGGAAGGAGTCTGTCCAGGGTTGGCCAGTGGGGAGACTGCTGGGCCAGTTCTTTATCTAGAAATTGCTCTGGAATGGAAAGACGTGTTCAGTTGAGCACAGGATCAGAGAACCGCCGCTGGGAAATAGGCGCCTCTGTTTACCAGCCCTCCCGGGCTCCTTTGTTATCTGTGACCTGGGCTCCCGGTGGCTTCCTCCTGAGTGACGGGAGCTCTGTACTGCTGAGCCATCCGGCGCTGGGCTGGCTGTGTCTGCCACCCTAGGCCATTAGTCCGGCCATTTGGTTTATAAACACAGAAACGTGGACCATCATTACCACGCGTCTCTAATGATGCCTTCACTTGTTCAACTGAAAATGTGTCAGGGAAGAGACGCTACCCCCACCCAAGAATTATTTTTGCTGTTACCTTTGAACATTTTGGTTTTTGTTAAACTCTGGGCCCAGAAAGGCTTTGGAGTGGAGCCTCCCCTGCATCCATCACCAGAAGACGGTATTTCGGAGCTGTGGTCCCACAATGGAAGGGTGGGGCCAGCTGTACCCATCATCCCTGGGGGTGTCCTGTTTTCCCTAAGACAGTGAGGGGTGCATGGGTACATGGGTGCTGCCTTGGAAGCTGGCTAGTGCAGGCTCAGAGGGAGGAAGTAGGTTAAAAATCAGCTAAGGAAGGAGCACGGTTGGATGCCTCTCTCCATTCCTGAAGGAGCAGCAGTGTGGTTCTGCACATCCTAGAGCCGGGGTTCCAGGGAACCCACAGGGGCGCGGTGTCTGTTTGTTCCAAGCAGCATGTCTGTGGTTGCAGGTCTGAAGGGATTCTTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCAAGGCCCTCCTGGACTTAAAGGACAAACAGGTAAAATCTCCCGCAGCCACACAGCCTTCCTCAGGCAGGCCCTCCGGAGACCCCAGAACAAAGGCGGTCAACATTGTCAATTTCCTCCAATCACACCCAACCCTGGAAGCTCACTCGTGCCTGCTGCCAGCTTAGGAGCTTTCCTCAGTGCTGATGGCATGGAGAGAAACAACCACCTGGGCTGGGGGGAGACCTGAGAATTGGAGAGAAGCATGGGGGTGAATGAGAAGTGCCTCTTCGGTTGAGCCTCTGTCTCTCATATAGAAGCCGACGGTTTGTAAGGGATCCCTTTGCTTGCATTGAATATGCAGAAACCCCTATGAACATCCTAGGTTAGAGAAGGAGAGCGGACAGTGGGCTGGCTTCCCACGCTGTTGCTGCTGCTGCTTTCTGTGTTTACTCAGCACCGGGGAATGCCAAGAGGCTCATCTCTCCAGGCACTGCCTCAGGGTCCTCTCCAGACGTCTATTTGGATAATAGGGCGACAATTAAAACTACACGCTATTTTCTCTCTGGCAAGGCTGAGCAAATCCTATTGAATTTGTATGTGGGGTCTAAGACCACCTGCATCCCCAGCTTGAGGGACAGTTCTAATCTCTCCTCCAACTGGCACTGCGGCCCTTCCGGCCCTCGGCCCCTCCCAGAGCGGCTGCCCCTCCTGCCAGGACCTCACCACACAGCGCCCAAGGTGTCCTGTGTGCTCAGACTTAATGCTGTGTTCACCCCCAGGCTTTCCAGGGCTGACTGGGCCTCCAGGGTCGCAGGGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGGCCGGGAGCTCCGGGCTTACCAGGTAAGGTCACGTAAAACACGTGGTCACCCAGACCCAGAGTCGTGGGCTGTGCAGGAGGCACCGCTGAGCAGGCCAGCCTCTCTCAGGGCGACTTCTAAGGCCCATACGAGAGCAAAGGCAGGTCTGCTGTGGCTTACGGTGGTCTGCACCAACATAGCAGCACAGGGTATACTGGCGCCCCAGGCAACTGGGAATCAAGCCAGATGCACAAATCTGCCCAGGGCTTCACCTCCCAGAAGGATGAATGAAAGCCTCCCAGAGAGGCTTCAGGGTCCACTTGTCATCGCCACACAGGGACGCACAGCAAGATCAGGGTGCAGGAGCAGCCTCAGTGTACCACTGTGCTGCACGGGCCACCCCCGGGGCCTCCTTACAGCCCCGAGACGGGCCACCCTGCCATGCTCACTGCCCATGTAACAGAAGGAATTGCCACCTGTTTGCTGTGTCCTGCTTTAGAAATATTTACCCTCAGAAATCCAGAGGGAATGGAAATGACACCGGGCTATTTGTTCCAAGCAGCTTTTACAAACCAAACATACAGCAGTGGCGAGGCGTCAAGAAGAGGCATGGGACATGTCACTCCCCAGGCCCCTTCTGGCCTAGTGAGTCTGTTAAAAAGATTCTATGAAGACAGTGTTCCAGTTCAATGGTGTTCCTAGGTAACATAAGAGTGCTTAGTTTACATGTCGTGTAAGTTGAGCGTGTGGCTTAGCTGCTTCCTATTTGTGGGGCTTTAGCAGGATTGTATGGGTGACAGTATCAGGTGACAGTTTCAGAGCCAACAAAACACATCTGAGTTATCTTGAGGGTTTCTCCCACCCAGAACCCCCTGTGCTGTCCCACACATGAAATAACAATGAGTGACACCCCCACAGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGCTTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAGGTACTCTGTGCCGTCCCAGCCCCGAGTCCCACGCAGAGGTGTCGAGGGTGGGGACTCTGTGCTGAGTCTGCCCTCCAGACTTCAGGGAATGGAGGGTCTCAGAGAGCAGGGTGGGCTTCCTGAAGTGCTATGCGATCGGCCGTGAGGGGCGGGTCCGGGCCCTGTGGTCCTGTACGCTGCTAAGATGTGATCCCTAAGAATCGGTTTCTCAAGGCAGTTGCTGGGTTGAATGGACTCATCAGGCTTTTAGACGGAGAGAGAAATAGAGTCCTTGCTTTTTCAGCAGCACCGTTGGGAGGGTGGGATGCACCTGCGCCCCTCAGGTGTCTGGAGTGTTCACTCTGCCCATTGCCTGTCTGTGATCTTTCATTTTGTTGGCCTAAGGAAGCCAGCGGTTTCCACCTGCCCCTGGGCAGTTCTGATGCTGGAGACAGTGATAGCGCTTGGGCACCCACAGGCTGGGAGCCAAAAACAACCAAAATGGGTTTCCTCCCAGTTCTGGAGGCTGGGATCAGCATGCCAGCGTGGTCGGGTTCTGGGGGGGGCCGCGTCCTGGCTGCTCGCTGTGTCCTCACGAGGGAGAGCACCCGCTCTCCCCTGTCACTTCTTATAAGGGCAGTAACCCCATCTTGGGGCCCCACCCTCATGACCTGGCCTAACCCTAATCACCTCCCAAAGGCCCCTGCTCCAAATGCCATCACACTGGAGTTAGGGCTTCCACTTAGGAACTTTGGGGTTGGGGAGAATGACACAATCAGTCCATAGCAAGGTGAACCAAGGGCTTCTTACCACAGGAAAAAGAAACTAACAACTTTCATAGCACTTTCTGGCTTATTTTATAAACTACTGTAGCACACATTTTTCCCTGAA
|
CATAAAGTGTAACTGATGAAAAGCCAGCTAGCACCCTGACTCCCGGAACACCTGAGGGCGTGCAGCAGGTGGTCGCTGACCCGAGCTTCTCAGAAACAGCGAAGGGTCCAGGAAAGGGGGAGTGGGAGTCAGGCCATCGCTTGAGAGAGATATGGAGGCAGCTGACCAGCCCGAGCGAGTTGTGGGGGCCTGGGGCGGCACAGTGCCTCCCTTCCCTTCTGCACATCACTGAGGTTCCACTCCTAAATTCCTGCCTGCAGTGACGTCTCAAGGGGACTGTGATAGTTTTCTTCTTTCTGGGGATTTTCTTTTGGGGGGACCCCACACTGCTCAAGTTGCTGGAGCCCCAGGGGCTTGCAGGGCTGGCCCTGGTGGGAGGGAAGGAGTCTGTCCAGGGTTGGCCAGTGGGGAGACTGCTGGGCCAGTTCTTTATCTAGAAATTGCTCTGGAATGGAAAGACGTGTTCAGTTGAGCACAGGATCAGAGAACCGCCGCTGGGAAATAGGCGCCTCTGTTTACCAGCCCTCCCGGGCTCCTTTGTTATCTGTGACCTGGGCTCCCGGTGGCTTCCTCCTGAGTGACGGGAGCTCTGTACTGCTGAGCCATCCGGCGCTGGGCTGGCTGTGTCTGCCACCCTAGGCCATTAGTCCGGCCATTTGGTTTATAAACACAGAAACGTGGACCATCATTACCACGCGTCTCTAATGATGCCTTCACTTGTTCAACTGAAAATGTGTCAGGGAAGAGACGCTACCCCCACCCAAGAATTATTTTTGCTGTTACCTTTGAACATTTTGGTTTTTGTTAAACTCTGGGCCCAGAAAGGCTTTGGAGTGGAGCCTCCCCTGCATCCATCACCAGAAGACGGTATTTCGGAGCTGTGGTCCCACAATGGAAGGGTGGGGCCAGCTGTACCCATCATCCCTGGGGGTGTCCTGTTTTCCCTAAGACAGTGAGGGGTGCATGGGTACATGGGTGCTGCCTTGGAAGCTGGCTAGTGCAGGCTCAGAGGGAGGAAGTAGGTTAAAAATCAGCTAAGGAAGGAGCACGGTTGGATGCCTCTCTCCATTCCTGAAGGAGCAGCAGTGTGGTTCTGCACATCCTAGAGCCGGGGTTCCAGGGAACCCACAGGGGCGCGGTGTCTGTTTGTTCCAAGCAGCATGTCTGTGGTTGCAGGTCTGAAGGGATTCTTTGGAGAGAAGGGAACAGAAGGTGACATCGGCTTCCCTGGGATAACAGGCGTGACTGGAGTCCAAGGCCCTCCTGGACTTAAAGGACAAACAGGTAAAATCTCCCGCAGCCACACAGCCTTCCTCAGGCAGGCCCTCCGGAGACCCCAGAACAAAGGCGGTCAACATTGTCAATTTCCTCCAATCACACCCAACCCTGGAAGCTCACTCGTGCCTGCTGCCAGCTTAGGAGCTTTCCTCAGTGCTGATGGCATGGAGAGAAACAACCACCTGGGCTGGGGGGAGACCTGAGAATTGGAGAGAAGCATGGGGGTGAATGAGAAGTGCCTCTTCGGTTGAGCCTCTGTCTCTCATATAGAAGCCGACGGTTTGTAAGGGATCCCTTTGCTTGCATTGAATATGCAGAAACCCCTATGAACATCCTAGGTTAGAGAAGGAGAGCGGACAGTGGGCTGGCTTCCCACGCTGTTGCTGCTGCTGCTTTCTGTGTTTACTCAGCACCGGGGAATGCCAAGAGGCTCATCTCTCCAGGCACTGCCTCAGGGTCCTCTCCAGACGTCTATTTGGATAATAGGGCGACAATTAAAACTACACGCTATTTTCTCTCTGGCAAGGCTGAGCAAATCCTATTGAATTTGTATGTGGGGTCTAAGACCACCTGCATCCCCAGCTTGAGGGACAGTTCTAATCTCTCCTCCAACTGGCACTGCGGCCCTTCCGGCCCTCGGCCCCTCCCAGAGCGGCTGCCCCTCCTGCCAGGACCTCACCACACAGCGCCCAAGGTGTCCTGTGTGCTCAGACTTAATGCTGTGTTCACCCCCAGGCTTTCCAGGGCTGACTGGGCCTCCAGGGTCGCAGAGAGAGCTGGGGCGGATTGGACTGCCTGGTGGCAAAGGAGATGATGGCTGGCCGGGAGCTCCGGGCTTACCAGGTAAGGTCACGTAAAACACGTGGTCACCCAGACCCAGAGTCGTGGGCTGTGCAGGAGGCACCGCTGAGCAGGCCAGCCTCTCTCAGGGCGACTTCTAAGGCCCATACGAGAGCAAAGGCAGGTCTGCTGTGGCTTACGGTGGTCTGCACCAACATAGCAGCACAGGGTATACTGGCGCCCCAGGCAACTGGGAATCAAGCCAGATGCACAAATCTGCCCAGGGCTTCACCTCCCAGAAGGATGAATGAAAGCCTCCCAGAGAGGCTTCAGGGTCCACTTGTCATCGCCACACAGGGACGCACAGCAAGATCAGGGTGCAGGAGCAGCCTCAGTGTACCACTGTGCTGCACGGGCCACCCCCGGGGCCTCCTTACAGCCCCGAGACGGGCCACCCTGCCATGCTCACTGCCCATGTAACAGAAGGAATTGCCACCTGTTTGCTGTGTCCTGCTTTAGAAATATTTACCCTCAGAAATCCAGAGGGAATGGAAATGACACCGGGCTATTTGTTCCAAGCAGCTTTTACAAACCAAACATACAGCAGTGGCGAGGCGTCAAGAAGAGGCATGGGACATGTCACTCCCCAGGCCCCTTCTGGCCTAGTGAGTCTGTTAAAAAGATTCTATGAAGACAGTGTTCCAGTTCAATGGTGTTCCTAGGTAACATAAGAGTGCTTAGTTTACATGTCGTGTAAGTTGAGCGTGTGGCTTAGCTGCTTCCTATTTGTGGGGCTTTAGCAGGATTGTATGGGTGACAGTATCAGGTGACAGTTTCAGAGCCAACAAAACACATCTGAGTTATCTTGAGGGTTTCTCCCACCCAGAACCCCCTGTGCTGTCCCACACATGAAATAACAATGAGTGACACCCCCACAGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTGAAATAAATAACGATGAGTGACACCCCCGCAGGTTTTCCGGGACTCCGTGGGATCCGCGGCTTACACGGCTTGCCAGGCACCAAGGGCTTTCCAGGATCCCCAGGTACTCTGTGCCGTCCCAGCCCCGAGTCCCACGCAGAGGTGTCGAGGGTGGGGACTCTGTGCTGAGTCTGCCCTCCAGACTTCAGGGAATGGAGGGTCTCAGAGAGCAGGGTGGGCTTCCTGAAGTGCTATGCGATCGGCCGTGAGGGGCGGGTCCGGGCCCTGTGGTCCTGTACGCTGCTAAGATGTGATCCCTAAGAATCGGTTTCTCAAGGCAGTTGCTGGGTTGAATGGACTCATCAGGCTTTTAGACGGAGAGAGAAATAGAGTCCTTGCTTTTTCAGCAGCACCGTTGGGAGGGTGGGATGCACCTGCGCCCCTCAGGTGTCTGGAGTGTTCACTCTGCCCATTGCCTGTCTGTGATCTTTCATTTTGTTGGCCTAAGGAAGCCAGCGGTTTCCACCTGCCCCTGGGCAGTTCTGATGCTGGAGACAGTGATAGCGCTTGGGCACCCACAGGCTGGGAGCCAAAAACAACCAAAATGGGTTTCCTCCCAGTTCTGGAGGCTGGGATCAGCATGCCAGCGTGGTCGGGTTCTGGGGGGGGCCGCGTCCTGGCTGCTCGCTGTGTCCTCACGAGGGAGAGCACCCGCTCTCCCCTGTCACTTCTTATAAGGGCAGTAACCCCATCTTGGGGCCCCACCCTCATGACCTGGCCTAACCCTAATCACCTCCCAAAGGCCCCTGCTCCAAATGCCATCACACTGGAGTTAGGGCTTCCACTTAGGAACTTTGGGGTTGGGGAGAATGACACAATCAGTCCATAGCAAGGTGAACCAAGGGCTTCTTACCACAGGAAAAAGAAACTAACAACTTTCATAGCACTTTCTGGCTTATTTTATAAACTACTGTAGCACACATTTTTCCCTGAA
|
Task1_train_19416
|
Chromosome 13 houses a mutation in gene COL4A2-AS1, COL4A2 (COL4A2 antisense RNA 1| collagen type IV alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Porencephaly 2
|
GAGGGCTCCTCACAGGAGAAAGGCTGGGGTGGGGGAGGGGTTCACATAGCCCCTGCCCCCCCAACCCCGCCCTGAGGGCCTCCCCAGCCCCACCATGAGATGTTCCTTGGCCTGAGGGCACCTCCCATCACTGTCTCGCTCGCTAGGCTCTGGTCCACCACAGGTGATGGTGTGGAGGGAAAATAGTAGATTTGAAAAGTTGGGTGCTAACGCTGAAAATAATTTCTTCTGTTTTCATCCTAAGGGGAACGAGGCCCACCTGGGAGCCCAGGACTTCAGGGGTTCCCTGGTATCACACCCCCTTCCAACATCTCTGGGGCACCTGGTGACAAAGGGGCGCCAGGGATATTTGGCCTGAAAGGTAAGCAGGACTTATACATCTGTGCTTCGACATCTCTAGGGGCAGGAGCTGGCAATGGCCCGCTTAATGTAGGGGGAGAACAGACGTTCATTTCCACGCTGTGCCCAGACTCCGGTCAAAGAGGCAGGAGCCATGATGGCTCCTCCTGTGTCATTTCCATCACCTGCACGACCTGGTCCCTGGGAAGCTGAGACACAGGCCATGTCATTTACTTGCTGTAATAGCAGATATTCAAACTGCAGGGGGCTCAGAAATGTGCAGTATGAACGGCTTTCTTCTTCCTCACTGTATTGTGTTTAGACAAGTATTAAATTTAATTTGCACTTCCTAATCACGAACGAGCTGAATATTGGAAAGAGATGGCGTAAAGATGAAGTCACCCGTCAAACAAGTGTTTGTGCGTCAAGGTTCACAGCAGCACTACTCACAAGCACCGAGTGCTGAAAGCAACCCGAGTGTCCATCAACAGAGGAATTAAGAAGCAAAATGCAGTCAGTATCCACCCAGTACAAGAGGAGTCCGTCTTTTTTGTTGGGTTGTTTTCTTGTTTTTTGTTTTTTGAGACAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCGCTGCAATCTCCGCCTCCCGGGTTCAAGGAATTTTTGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTCCACCACCAAGCCCAGATGATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGCAATCCTCCCACCTCGGCTTCCCAAAGTGCTGAGACGACAGGTGTAAGCCACCTTGCCCAGCCTTTATTCGGTCTTAAAAAGAAGGAACTCTTATCACCTGCTACCACCTAGATGACCCTTGAGGGCATTCTGCTGAGTGAAAGAAGCCAGTCACAAAAGGTCGGATTCTGTGATTCCACACATACGAGGCCCCTGAAGTCATCAAATTCATAGAAACAGAAAGTACAATGGCTGTTGCTGAGGGTTGGGGGGAGAGGGACACGGGGAGTGCGTGTATAACGGGGACAGATTTCAGTTTAGGATGAGAAAGTTCTGGAGCTGGTCGGCGGTGAAGGTGAATATATTGAATGCCACTGAGCAGTGCACCTAAAAATGATTAAAATGGTAACTTTTATGTTCTACGTATTTTACGACAATTTTTTAAAAACATAGACAAAGTCATTCCATGCCACAGACTTGCCAGAGACTGTCGCCTGAATGGGTGACGGTGCACCTGACTGCCCCCAGGGGCCTTGGGGCCCTGTTTAAACCCTCCTTTCTTGTCCCTAATGCCAACAGGTTATCGGGGCCCACCAGGGCCACCAGGTTCTGCTGCTCTTCCTGGAAGCAAAGGTGACACAGGGAACCCAGGAGCTCCAGGAACCCCAGGGACCAAAGGATGGGCCGGGGACTCCGGGCCCCAGGGCAGGCCTGGTGTGTTTGGTCTCCCAGGAGAAAAAGGTAACAGTGCCCATGGCCATGGGCCAGCAGCCCTGGCCACAGTGAGAGGAGCCCCCTCCCCACAGACTTTCGTGTCCCTAACGTCTTGTTTGTGTTGCAGGGCCCAGGGGTGAACAAGGCTTCATGGGGAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCAAGGGACCCAAGGGAGACCCAGGATTCCCTGGTAAGTGACCGTCTGGTATCTTCAGAGCTAGTGGCTCAGCCCAGCCTCTCCAGGCTTGGGGACATCCTGGAGGTCAAACGGCCAGGATCCTCTCTGGCATGGGTCACATGTTGTAAAGAGCAGGGAGGAAACCAAGGCTGTGCCTCGGATGTTGTCACAGGACCTTGGGGAATGGAGAGCTTAATATTCAAACGGCAGGCGCTGAGTCACGGCTCAGGCCCGTTAGTGTCTGGCTCATCTCTAGAAAGCACAGTTGTCTGGGAAGCTCCAAAAGAAGCCTCCCTGGTGAGAAACGCAGTAGCACTCGGAGCAAGAGAGTGGAACGACCTTGTGTGTTTACTGGGGCCTCTCTGTTTCCCTTCCAGGTGCCCCCGGGACTGTGGGAGCCCCCGGGATTGCAGGAATCCCCCAGAAGATTGCCGTCCAACCAGGGACAGTGGGTCCCCAGGGGAGGCGAGGCCCCCCTGGGGCACCGGGGGAGATGGGGCCCCAGGGCCCCCCCGGAGAACCAGGTAGAGTGCTGAGCTGGGGCCTGGAGCCCCTCGGGGCTGCCCGGGCAAGGCCAGGGCCTGCTGGCATTGCGTCCTCTTGTGTTCTCTTTGTGGATCGCCGGCCGTGCCAGGCGTGGTCAGTTTCCAGCCATAACGCTTCTTTGGTGGCTTGCAGGTTTCCGTGGGGCTCCAGGGAAAGCTGGGCCCCAAGGAAGAGGTGGTGTGTCTGCTGTTCCCGGCTTCCGGGGAGATGAAGGACCCATAGGCCACCAGGGGCCGATTGGCCAAGAAGGTGAGTGACAGTGGGGAAGGACCTTCCCAGGTCCTAGTGCTCTGGATCTGACTCACAGACTGTGGTCTGCAGGAAGGGGACACACGAGAGCCCAGAAAAGCCAGAAATGAGGCGCTGCCCCACCCTCCTGCTCCTAATCTGGGCGTAGCAGCTACACTCCTATGCCCAGCAGAACACCTGGCCCCGAGTCCTGGGACAGCCTCCCTCCTTTTCCTGGGACACCTGCGGTGCTGTGGAGTGGGCGGCAGGGATCAGTAGACTTCAAGGGTCAGGATTAGACAAGGAGCCAAAAGAAACCGACTATTAAAATGTACAAGAGCCGCACTGCGAAGCCCTGTCTTACTTTTTTTTCTTTTTTGGACAGAGTCTCGCTCTGTCTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTTAGCCTCCCAAGTAGTTGGGACTACAGGCATGTGCCCCCATACCCAGCTAACTTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGAGCGATCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGTCACCGTGCCTGGTCGTCTTATTTTTTAAAATTATTTGCACATATACAGAATGAAATAGGCCAGGAATAACAGCTATTCATGAAAAAAAAAAACCTCAAAATTTGTCTTAATCAACCTGAGCTCAGTTTGAGCCAATGGTCTGAGCATTAAAATTAAAATTAAAATTAAACATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCAGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTCAACCCAGGAGGTGGAGGTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAGAAAATTAAACATGGGTAGTACTATTGGTGTCCAAGTCAAAGGAAATAGCAGTCCCCTGCCCCTGGGGACAGATCCGCAGCCGGCAAATTATGGGTAGTGTGGGGTGCACCTGAAAACAAATGCCAGCAAATGGGAGCCCGCCCAGGGTAGGAGACAA
|
GAGGGCTCCTCACAGGAGAAAGGCTGGGGTGGGGGAGGGGTTCACATAGCCCCTGCCCCCCCAACCCCGCCCTGAGGGCCTCCCCAGCCCCACCATGAGATGTTCCTTGGCCTGAGGGCACCTCCCATCACTGTCTCGCTCGCTAGGCTCTGGTCCACCACAGGTGATGGTGTGGAGGGAAAATAGTAGATTTGAAAAGTTGGGTGCTAACGCTGAAAATAATTTCTTCTGTTTTCATCCTAAGGGGAACGAGGCCCACCTGGGAGCCCAGGACTTCAGGGGTTCCCTGGTATCACACCCCCTTCCAACATCTCTGGGGCACCTGGTGACAAAGGGGCGCCAGGGATATTTGGCCTGAAAGGTAAGCAGGACTTATACATCTGTGCTTCGACATCTCTAGGGGCAGGAGCTGGCAATGGCCCGCTTAATGTAGGGGGAGAACAGACGTTCATTTCCACGCTGTGCCCAGACTCCGGTCAAAGAGGCAGGAGCCATGATGGCTCCTCCTGTGTCATTTCCATCACCTGCACGACCTGGTCCCTGGGAAGCTGAGACACAGGCCATGTCATTTACTTGCTGTAATAGCAGATATTCAAACTGCAGGGGGCTCAGAAATGTGCAGTATGAACGGCTTTCTTCTTCCTCACTGTATTGTGTTTAGACAAGTATTAAATTTAATTTGCACTTCCTAATCACGAACGAGCTGAATATTGGAAAGAGATGGCGTAAAGATGAAGTCACCCGTCAAACAAGTGTTTGTGCGTCAAGGTTCACAGCAGCACTACTCACAAGCACCGAGTGCTGAAAGCAACCCGAGTGTCCATCAACAGAGGAATTAAGAAGCAAAATGCAGTCAGTATCCACCCAGTACAAGAGGAGTCCGTCTTTTTTGTTGGGTTGTTTTCTTGTTTTTTGTTTTTTGAGACAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCGCTGCAATCTCCGCCTCCCGGGTTCAAGGAATTTTTGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTCCACCACCAAGCCCAGATGATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCAAGCAATCCTCCCACCTCGGCTTCCCAAAGTGCTGAGACGACAGGTGTAAGCCACCTTGCCCAGCCTTTATTCGGTCTTAAAAAGAAGGAACTCTTATCACCTGCTACCACCTAGATGACCCTTGAGGGCATTCTGCTGAGTGAAAGAAGCCAGTCACAAAAGGTCGGATTCTGTGATTCCACACATACGAGGCCCCTGAAGTCATCAAATTCATAGAAACAGAAAGTACAATGGCTGTTGCTGAGGGTTGGGGGGAGAGGGACACGGGGAGTGCGTGTATAACGGGGACAGATTTCAGTTTAGGATGAGAAAGTTCTGGAGCTGGTCGGCGGTGAAGGTGAATATATTGAATGCCACTGAGCAGTGCACCTAAAAATGATTAAAATGGTAACTTTTATGTTCTACGTATTTTACGACAATTTTTTAAAAACATAGACAAAGTCATTCCATGCCACAGACTTGCCAGAGACTGTCGCCTGAATGGGTGACGGTGCACCTGACTGCCCCCAGGGGCCTTGGGGCCCTGTTTAAACCCTCCTTTCTTGTCCCTAATGCCAACAGGTTATCGGGGCCCACCAGGGCCACCAGGTTCTGCTGCTCTTCCTGGAAGCAAAGGTGACACAGGGAACCCAGGAGCTCCAGGAACCCCAGGGACCAAAGGATGGGCCGGGGACTCCGGGCCCCAGGGCAGGCCTGGTGTGTTTGGTCTCCCAGGAGAAAAAGGTAACAGTGCCCATGGCCATGGGCCAGCAGCCCTGGCCACAGTGAGAGGAGCCCCCTCCCCACAGACTTTCGTGTCCCTAACGTCTTGTTTGTGTTGCAGGGCCCAGGGGTGAACAAGGCTTCATGGGGAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCAAGGGACCCAAGGGAGACCCAAGATTCCCTGGTAAGTGACCGTCTGGTATCTTCAGAGCTAGTGGCTCAGCCCAGCCTCTCCAGGCTTGGGGACATCCTGGAGGTCAAACGGCCAGGATCCTCTCTGGCATGGGTCACATGTTGTAAAGAGCAGGGAGGAAACCAAGGCTGTGCCTCGGATGTTGTCACAGGACCTTGGGGAATGGAGAGCTTAATATTCAAACGGCAGGCGCTGAGTCACGGCTCAGGCCCGTTAGTGTCTGGCTCATCTCTAGAAAGCACAGTTGTCTGGGAAGCTCCAAAAGAAGCCTCCCTGGTGAGAAACGCAGTAGCACTCGGAGCAAGAGAGTGGAACGACCTTGTGTGTTTACTGGGGCCTCTCTGTTTCCCTTCCAGGTGCCCCCGGGACTGTGGGAGCCCCCGGGATTGCAGGAATCCCCCAGAAGATTGCCGTCCAACCAGGGACAGTGGGTCCCCAGGGGAGGCGAGGCCCCCCTGGGGCACCGGGGGAGATGGGGCCCCAGGGCCCCCCCGGAGAACCAGGTAGAGTGCTGAGCTGGGGCCTGGAGCCCCTCGGGGCTGCCCGGGCAAGGCCAGGGCCTGCTGGCATTGCGTCCTCTTGTGTTCTCTTTGTGGATCGCCGGCCGTGCCAGGCGTGGTCAGTTTCCAGCCATAACGCTTCTTTGGTGGCTTGCAGGTTTCCGTGGGGCTCCAGGGAAAGCTGGGCCCCAAGGAAGAGGTGGTGTGTCTGCTGTTCCCGGCTTCCGGGGAGATGAAGGACCCATAGGCCACCAGGGGCCGATTGGCCAAGAAGGTGAGTGACAGTGGGGAAGGACCTTCCCAGGTCCTAGTGCTCTGGATCTGACTCACAGACTGTGGTCTGCAGGAAGGGGACACACGAGAGCCCAGAAAAGCCAGAAATGAGGCGCTGCCCCACCCTCCTGCTCCTAATCTGGGCGTAGCAGCTACACTCCTATGCCCAGCAGAACACCTGGCCCCGAGTCCTGGGACAGCCTCCCTCCTTTTCCTGGGACACCTGCGGTGCTGTGGAGTGGGCGGCAGGGATCAGTAGACTTCAAGGGTCAGGATTAGACAAGGAGCCAAAAGAAACCGACTATTAAAATGTACAAGAGCCGCACTGCGAAGCCCTGTCTTACTTTTTTTTCTTTTTTGGACAGAGTCTCGCTCTGTCTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCTTCTGCCTCCCGGGTTCAAGCGATTCTCCTGTCTTAGCCTCCCAAGTAGTTGGGACTACAGGCATGTGCCCCCATACCCAGCTAACTTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGAGCGATCCGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGTCACCGTGCCTGGTCGTCTTATTTTTTAAAATTATTTGCACATATACAGAATGAAATAGGCCAGGAATAACAGCTATTCATGAAAAAAAAAAACCTCAAAATTTGTCTTAATCAACCTGAGCTCAGTTTGAGCCAATGGTCTGAGCATTAAAATTAAAATTAAAATTAAACATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCAGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTCAACCCAGGAGGTGGAGGTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAGAAAATTAAACATGGGTAGTACTATTGGTGTCCAAGTCAAAGGAAATAGCAGTCCCCTGCCCCTGGGGACAGATCCGCAGCCGGCAAATTATGGGTAGTGTGGGGTGCACCTGAAAACAAATGCCAGCAAATGGGAGCCCGCCCAGGGTAGGAGACAA
|
Task1_train_19417
|
A genomic change on Chromosome 13 affects NAXD (NAD(P)HX dehydratase). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; NAD(P)HX dehydratase deficiency
|
GCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAGAATTGCTTGGACCAGGGGGTCGTAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAATTTGGGTTGATGGGGATTCATAGGATCTTTTTATCTTGGGGAATCCCAGCATCTGCTCTATCAGCTAAGGCAGTTACATCTACTCATAAAGAAAATTCCTTCAAAAGTTTTGTTGAGTAAAAAGTAAAACTGTAAGAGTTAAAAGACAAAGCTCTTTTGCTGTGAAACGCTCAGTGAGCTTTGGACTGCAGTCAGTGGAACTTGTGACACTGGTTTTTCTCTGCTGCTGAGATAATTGGAAGGATAAAAATATTGAGTGCCTTGTTTGAAAAAATACTGTTTATATTTGCAAAGATCCTTTCATTCTAGGGAGAATGTATGCTTTATTCATTGAGCTCTATAGAACATACCAGCATTTCTCTCATAGCCGAGCTGTTTTAAATATTAAGGTAAAATATATAACACAGGAAGCTCTTCAAGAAAGGCCAATTGAAGTGTAGCTGTTTAGAGACAACTCAAGATGATGAAAATACATTAAATGCCACTTTGAACCCAATTTAAGAGGTGTGCCATATTTAGAATGCCATTTCTAGGTTATTTAATTAATACCCAGTTGAGTGTTGGAATACAGTTGGGAGTAATATGATGAATCTGTCAGACTTCTGAGCACCCCAGCGGATTACAGGTGGGAGCTTGCTTTCCAGTTTGTGAGGAGAGAAAAGACCTAATAATCCTAAAGGGAAATTGAAATGAAGTGATAGTTTATTAAGTAATAATGCATTTTTTTACTTGATAAAACTTTCTGGAAAATTAAATGGTCTTCCAAAATTTCAGATACATTTCAAAAATAAACCTGATAGAAATAGCATATGTTGTCCTGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTAAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCAGGGCAGGGTGGCAGGTGCCTGTAATCCCAGATACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGCTAGACTCTGTCTCAAATAAATAAATAAATAGCATGTGTTACTATATGTGTTAATTACATGTGTTCAGGCTGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGCAGCTGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCATGGCCAACATGATGAAACCCTATCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTAGTAGACACCTATAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTCAGAGTTCGTCTCAAAAAAGAAAAAAAAAATTGCATGTGTTAATGTAATTTTGAACATCATATTTGCTTACAGAAATCCATTGGGTAAAAATCTATAGCATTCGTAATAACTTTGGAGAGGGTTTTGGTTAATGGGCTATTATGTGTACTAACAATATCTGTTTACCTTTCTGAATTATTCATTTTTCTTGTCTTTCAGTTTTAGAAAGAGCGTTTTCGCTACGTAAAGCACATTCGATAAAGGATATGGAAAATACTTTGCAGCTGGTGAGAAATATCATACCTCCTCTGTCTTCCACAAAGCACAAAGGGCAAGATGGAAGAATAGGCGTAGTTGGAGGCTGTCAGGAGTAAGTAGCTGATGTGCAGTGTTGGTGTTTAAAAAGTCAGTTGCTGGCTGGCTGCTTACCTGACTGTCATTCACGCTGTCTAGTTTGACCTCAGTAATCATTTCCAAATGCAGCCTGATAGGACACTCAGTATTTTTCAGTGATCCACTTTTTGATTAACTAGGAAATAACTCTGAGGAGCCCTGACTGAATTACTCCCTCATGTGTGTCAGTGTTAAGTTTTGTCGTAGTGGGGAAATGAGCCTGTTTTTTCCACTTTCTGCTTTTCTGTATTTAACTGGACTTCATACCACAAGCATGTTTTTTGTATTTAGGATAGAAACACTCAGCAACCTCTTGGTTTACTTTGTCAATTTAAAGATGTTACTGAAAGTCATTTATGAAATTTGACAAATCCCTAGCTTGCTTCTGTTCTGTTTTGCTGCTGTGTTTGGTACGTAGCTGTTTGTAAGTTGTCCTTGGGTGTGAAGGATACCTTCTGCCTCTGACGGAAAGCCTGCCGTGGCTCCTCTGTTTCTGCTTGCTTTCTGTTTGCATGGATGTGGTATCTCTCTTTGCCCATCCCTCCATTTGCAGCTGTTGATCGTGCCATAGGGTGTGTTAGAGTTGTTACTGGATCAGGTATGTGTGCATTTTACATGCTGGTGACGCTGCCGAATTGTCCCCCCATTGCGTTAGTGTGTGTTGCCTCCCAAGAGCACCTGTTCCCTGCAGCCCTTGGAGGACAACCTTTGCTAGTGAAGTCGACAAGCTTTCTTGTTGTTTTAATGCATTTCTCTTATTAGTGAGGCTTGTTTTCACATGATGGAAGAGTGTGTGCATGTATGTTGCCTGTTCTGTACTGTCTTTTGCATTTACAACGCTATTGACACCGCTTTGCAGGAGAAGGCCATGTAAGGTGATGGGTATCAGCATTTGCCCAGGTCTCTCTTTCTTGGGTTAGCAAAACATTTCACTGCTCGGAATGGACATAAAGGTTGCATTTGCCCATCTGACGGAGGGCAGGGCTCTTCCTTTCTGTGCCTGAAGTGCCCTTAGACCTGGAGAGCCAGGGATTCCAGAACAGCCAGGCGGAAGCAGCTGGGTGGTGGGTGCCGTTTCTTGTTTGTCCCAGGTGGCCCCCATCTGGCCTCTGCTGACTGTGACTCTTGGAGGACGGGGTCTGCCCACTCTGGGACCCTGTCCATGCCCGACTGCTCCGAACATGTGGTTGTCACTTTCTTCTCTCCAGGCAGAAGCCTGCGGTCAGCTCCTTACCTTGAACATTCACATTGCAGGGAGACTGCAGGCATTACTGCCAGAGATTCACTCTCCTGAAATGCATGAAGGTTTTATGTAAAAGATCGACATTTCTGGCTGGGCGCGGTGGCTCATGCCCGTCATCTTAGCATTTTGAGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGCAGAAACCCTGTCCCTACTAAAACTACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGACATTTCTAGTCGAACCTGGTTCATGTTCATTGAACATTTGCTGAGCATCTTTTAGGTGTTGGGTTTGTGCTGTGTGCTTCATGTCTCTGTTATTTATTGATAAACCATGTCTATATTATTTATGTCTATTTTTTATTGATAACCTATTTATTGATCAAGGTATGCTTACCTTATTCTCAGAAGTTTTTGACTCTAAATACCTTCTTTTTAGGTACACTGGAGCCCCATATTTTGCAGCAATCTCAGCTCTCAAAGTGGTATGTTTACTTAAAATTTCTTTATTGGGATTTTTCTGGTAGAGAGTTTGATTATTTAAATATGATTAAAGCAAATGTTTTCTGATAGAAATCTAAATAATATCTTAGGGTAATCATAGCTAAT
|
GCGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCCCGTCTCTGCTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGACGCAGGAGAATTGCTTGGACCAGGGGGTCGTAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAATTTGGGTTGATGGGGATTCATAGGATCTTTTTATCTTGGGGAATCCCAGCATCTGCTCTATCAGCTAAGGCAGTTACATCTACTCATAAAGAAAATTCCTTCAAAAGTTTTGTTGAGTAAAAAGTAAAACTGTAAGAGTTAAAAGACAAAGCTCTTTTGCTGTGAAACGCTCAGTGAGCTTTGGACTGCAGTCAGTGGAACTTGTGACACTGGTTTTTCTCTGCTGCTGAGATAATTGGAAGGATAAAAATATTGAGTGCCTTGTTTGAAAAAATACTGTTTATATTTGCAAAGATCCTTTCATTCTAGGGAGAATGTATGCTTTATTCATTGAGCTCTATAGAACATACCAGCATTTCTCTCATAGCCGAGCTGTTTTAAATATTAAGGTAAAATATATAACACAGGAAGCTCTTCAAGAAAGGCCAATTGAAGTGTAGCTGTTTAGAGACAACTCAAGATGATGAAAATACATTAAATGCCACTTTGAACCCAATTTAAGAGGTGTGCCATATTTAGAATGCCATTTCTAGGTTATTTAATTAATACCCAGTTGAGTGTTGGAATACAGTTGGGAGTAATATGATGAATCTGTCAGACTTCTGAGCACCCCAGCGGATTACAGGTGGGAGCTTGCTTTCCAGTTTGTGAGGAGAGAAAAGACCTAATAATCCTAAAGGGAAATTGAAATGAAGTGATAGTTTATTAAGTAATAATGCATTTTTTTACTTGATAAAACTTTCTGGAAAATTAAATGGTCTTCCAAAATTTCAGATACATTTCAAAAATAAACCTGATAGAAATAGCATATGTTGTCCTGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTAAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAGAATACAAAAATTAGCAGGGCAGGGTGGCAGGTGCCTGTAATCCCAGATACTCCGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGCTAGACTCTGTCTCAAATAAATAAATAAATAGCATGTGTTACTATATGTGTTAATTACATGTGTTCAGGCTGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTGAGAGGCTGCAGCTGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCATGGCCAACATGATGAAACCCTATCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTAGTAGACACCTATAATCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTCAGAGTTCGTCTCAAAAAAGAAAAAAAAAATTGCATGTGTTAATGTAATTTTGAACATCATATTTGCTTACAGAAATCCATTGGGTAAAAATCTATAGCATTCGTAATAACTTTGGAGAGGGTTTTGGTTAATGGGCTATTATGTGTACTAACAATATCTGTTTACCTTTCTGAATTATTCATTTTTCTTGTCTTTCAGTTTTAGAAAGAGCGTTTTCGCTACGTAAAGCACATTCGATAAAGGATATGGAAAATACTTTGCAGCTGGTGAGAAATATCATACCTCCTCTGTCTTCCACAAAGCACAAAGGGCAAGATGGAAGAATAGGCGTAGTTGGAAGCTGTCAGGAGTAAGTAGCTGATGTGCAGTGTTGGTGTTTAAAAAGTCAGTTGCTGGCTGGCTGCTTACCTGACTGTCATTCACGCTGTCTAGTTTGACCTCAGTAATCATTTCCAAATGCAGCCTGATAGGACACTCAGTATTTTTCAGTGATCCACTTTTTGATTAACTAGGAAATAACTCTGAGGAGCCCTGACTGAATTACTCCCTCATGTGTGTCAGTGTTAAGTTTTGTCGTAGTGGGGAAATGAGCCTGTTTTTTCCACTTTCTGCTTTTCTGTATTTAACTGGACTTCATACCACAAGCATGTTTTTTGTATTTAGGATAGAAACACTCAGCAACCTCTTGGTTTACTTTGTCAATTTAAAGATGTTACTGAAAGTCATTTATGAAATTTGACAAATCCCTAGCTTGCTTCTGTTCTGTTTTGCTGCTGTGTTTGGTACGTAGCTGTTTGTAAGTTGTCCTTGGGTGTGAAGGATACCTTCTGCCTCTGACGGAAAGCCTGCCGTGGCTCCTCTGTTTCTGCTTGCTTTCTGTTTGCATGGATGTGGTATCTCTCTTTGCCCATCCCTCCATTTGCAGCTGTTGATCGTGCCATAGGGTGTGTTAGAGTTGTTACTGGATCAGGTATGTGTGCATTTTACATGCTGGTGACGCTGCCGAATTGTCCCCCCATTGCGTTAGTGTGTGTTGCCTCCCAAGAGCACCTGTTCCCTGCAGCCCTTGGAGGACAACCTTTGCTAGTGAAGTCGACAAGCTTTCTTGTTGTTTTAATGCATTTCTCTTATTAGTGAGGCTTGTTTTCACATGATGGAAGAGTGTGTGCATGTATGTTGCCTGTTCTGTACTGTCTTTTGCATTTACAACGCTATTGACACCGCTTTGCAGGAGAAGGCCATGTAAGGTGATGGGTATCAGCATTTGCCCAGGTCTCTCTTTCTTGGGTTAGCAAAACATTTCACTGCTCGGAATGGACATAAAGGTTGCATTTGCCCATCTGACGGAGGGCAGGGCTCTTCCTTTCTGTGCCTGAAGTGCCCTTAGACCTGGAGAGCCAGGGATTCCAGAACAGCCAGGCGGAAGCAGCTGGGTGGTGGGTGCCGTTTCTTGTTTGTCCCAGGTGGCCCCCATCTGGCCTCTGCTGACTGTGACTCTTGGAGGACGGGGTCTGCCCACTCTGGGACCCTGTCCATGCCCGACTGCTCCGAACATGTGGTTGTCACTTTCTTCTCTCCAGGCAGAAGCCTGCGGTCAGCTCCTTACCTTGAACATTCACATTGCAGGGAGACTGCAGGCATTACTGCCAGAGATTCACTCTCCTGAAATGCATGAAGGTTTTATGTAAAAGATCGACATTTCTGGCTGGGCGCGGTGGCTCATGCCCGTCATCTTAGCATTTTGAGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGCAGAAACCCTGTCCCTACTAAAACTACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGACATTTCTAGTCGAACCTGGTTCATGTTCATTGAACATTTGCTGAGCATCTTTTAGGTGTTGGGTTTGTGCTGTGTGCTTCATGTCTCTGTTATTTATTGATAAACCATGTCTATATTATTTATGTCTATTTTTTATTGATAACCTATTTATTGATCAAGGTATGCTTACCTTATTCTCAGAAGTTTTTGACTCTAAATACCTTCTTTTTAGGTACACTGGAGCCCCATATTTTGCAGCAATCTCAGCTCTCAAAGTGGTATGTTTACTTAAAATTTCTTTATTGGGATTTTTCTGGTAGAGAGTTTGATTATTTAAATATGATTAAAGCAAATGTTTTCTGATAGAAATCTAAATAATATCTTAGGGTAATCATAGCTAAT
|
Task1_train_19418
|
A variant found in Chromosome 13 affects NAXD (NAD(P)HX dehydratase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; NAD(P)HX dehydratase deficiency
|
TGCATTTACAACGCTATTGACACCGCTTTGCAGGAGAAGGCCATGTAAGGTGATGGGTATCAGCATTTGCCCAGGTCTCTCTTTCTTGGGTTAGCAAAACATTTCACTGCTCGGAATGGACATAAAGGTTGCATTTGCCCATCTGACGGAGGGCAGGGCTCTTCCTTTCTGTGCCTGAAGTGCCCTTAGACCTGGAGAGCCAGGGATTCCAGAACAGCCAGGCGGAAGCAGCTGGGTGGTGGGTGCCGTTTCTTGTTTGTCCCAGGTGGCCCCCATCTGGCCTCTGCTGACTGTGACTCTTGGAGGACGGGGTCTGCCCACTCTGGGACCCTGTCCATGCCCGACTGCTCCGAACATGTGGTTGTCACTTTCTTCTCTCCAGGCAGAAGCCTGCGGTCAGCTCCTTACCTTGAACATTCACATTGCAGGGAGACTGCAGGCATTACTGCCAGAGATTCACTCTCCTGAAATGCATGAAGGTTTTATGTAAAAGATCGACATTTCTGGCTGGGCGCGGTGGCTCATGCCCGTCATCTTAGCATTTTGAGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGCAGAAACCCTGTCCCTACTAAAACTACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGACATTTCTAGTCGAACCTGGTTCATGTTCATTGAACATTTGCTGAGCATCTTTTAGGTGTTGGGTTTGTGCTGTGTGCTTCATGTCTCTGTTATTTATTGATAAACCATGTCTATATTATTTATGTCTATTTTTTATTGATAACCTATTTATTGATCAAGGTATGCTTACCTTATTCTCAGAAGTTTTTGACTCTAAATACCTTCTTTTTAGGTACACTGGAGCCCCATATTTTGCAGCAATCTCAGCTCTCAAAGTGGTATGTTTACTTAAAATTTCTTTATTGGGATTTTTCTGGTAGAGAGTTTGATTATTTAAATATGATTAAAGCAAATGTTTTCTGATAGAAATCTAAATAATATCTTAGGGTAATCATAGCTAATAGAAACACCGTTAAGTCTATCCTGACATCTGTGCATAAACAAGATCACTTCAGTTGAAGCTCATTTTTTTTTGAGACAGAGTTTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGGGATCTCGGCTCACAGCAACCTCCGCCGCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTGTTTGTATTTTTAGTAGAGTCAGGTTTTCTCTCTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCATGCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTCAATTGAAGCCCATTTTTAAAACCTAAAGCGTGATTTGTATTGTACTCCACCAAAGTGCACCTGGGATGCCTTTGTAGGTCGCAGCTGAAGCCGCTGATCCTGCAGTTTCCCATGAGCTGAGCAAGTGCTAACGGCCGGCCTCTTCCTGTGACCCTTCCTCCTGGAGGGTGACCAGACCGAGCTGGGCCGTGCTGGTGTGTGTGGCTCTGACCCTGCCTCTGCAGTGGCGGCAAAAGTCTTTCTTTTTAGGTATTGTGCTCTGCGCCCTGGCCCTTTGCTAAGCCACCTGGCTGGGTGTAATCCGAGCTAGTACGTTTCTCATGCACGTCACCAGGGCTGAGTAATGAGCGCTGGACGCCTGTGTCTGGCGGGTGGGCAGCGATGCCGGAGCGATCCCTGAGTCGGCCTCTTGTGCTCCTTCATCAGGGCGCAGACTTGTCCCACGTGTTCTGTGCCAGTGCGGCCGCACCTGTGATTAAGGCCTACAGCCCGGAGCTGATCGTCCACCCAGTTCTGTGAGTCGCTCTGCGCCGGCTTCTCGTAGGTTCTCTTTCCCTCCTGCATCATTTGGGGTTTTGGCACTGACACCGAAAGCGTCCTGATGGATTTTCCATCCTCAGAGTTTCTCAGCAGGTGCTGTAGAGGAAGTAGGGAAATGAAGGAGCCCGTTCTTCTGGGGTCAGAATAAGACAGAGACGGCGGGGTGGAGAGGTGGGTGGGGGAGCTTGGGCCTGTTGGAAATGGCCGGGGCCCAGCTCCAGAGGCAGGGAGGCCCTGTGGGCTGTGTGTGACAGGTTTGCAGAAGGTGGAAACGAAGGGCCTCTGAGCAATAACAAGACCCTTCCTGCACTCGGCACATATGTCTGGTGCCAGGCCCTAGCCTGTGTTCCATGGGTCAGCGTGGAACTGGGCAGGCAAAAACCTGCCCCCGTGGGGCTCCCCCAGACCGCCTATGCTATAGAGCTTGCTGTGTGGAGGTGTTCTCTCTGCCGTCCAGGATTGTGGCCACTGAGGGCTTGAAATGTGGCTGGGAGGTGCGGGAGCAGAGCGTTTGCTCTTGTTTACTTTTCATTGTGTGTGTTTGCACCGACTGGATTGGGCTGTGCTGCTCTGGAGACAAGGGAGAGGAGGATGTCAGGTGGTGAAGGAACCGTAGAGAGCGGCAGCAGGGAGGGGGCTGTGAGAGTGGGCAGAGGGGCAGTTGGGGCGGCAGCACAGTGTGATGACGCCTGGGTCGAGCCCGGCCTCTCCACACCAGAGAGGAGCCGGCGCGGAGCTCCAGGTGCGGTGCTGTGATGTGTCGGGTGACCAAGAGGTGCAGGGCTGGGCCCCACAGGGTGTGGGGCTGCTGTCAGGGCTGTGGCTCTGGCCCTGAGTAAGCAGGGCAGGGCCAGTGTGGGTCATAAAGGCTCCTACGCGGCTGTGGGGCTGGGCCGGAGGCTGTGGTAAGGACCTGTGGGAGGGAAGGGTGCAGTCAGATGGTGAGAGGGGCCGGATTCTGGGTATGTTTGGAAAGTTTGGGGGTGGAATTTGCCGACAGATTGGATTGGAAAAGGCAAGGGGCACAGACTCCACCAAGGGTTTTGGTCTGAGCGAGTGGTCACTCCATGTGGTGGAAACGGGCTTGGGTGGGATGAAGATGAGGCGTTGGGTGTAGGGCGCAGTTTGGCTGCCAGTTAGACATCCAAGGGACGTGGCTAGAGGGCATTGGACAGTGGGGACACGGGCTTGGGAGTCATGCACATGTGGACGGTGCTTAAAGCTGGAAGACGAGGGAGTAAGAGGCGGAGGGGGGCTGGGGTTGGGGGCAGGGGGGACTTGGCACTCAGATGCTGGGAGCACGGGCTGGGGAGGAGGCAGCAGGGGCCTCCAGGAGTCAGTGAAGCCGCTGTTTCCAGACAGCTCCAGAAGGGCCTGTGTGTGCGACTCTGGGTCAGTTGGAGATGAGGCCTGAGAACAGTTGGTGCATCTCACAGTGCGGGGTGACCCTGACAAGGGAGCTTGTCGGGGAGGAAAGGGGACAGAAGCCTTAACAGTGGGCTCTAGGAGAGGTCACACCGAACAGGAAGGAGTTCTGAAAAAGCAAACCCCTGCCCTGTTCTGAATGAGAAACTGCAGCAGGGTCAGTGCGTTGTGTGGGGCCTGGTCTATAAGCACACAAAGTAGGCTTTACAGCCACACATGTATGTGATGGAAACAAACGGGCTAACTTTAGAGGGCAAAGATGATTTTGAAAATAGCCATCGTTCTTTTTCTAACTTGTCGTAACTGTTGAAAGCTAGGCATGTAAATCTGGGCATTAAAAGAGAGATCAGGGAGAGGCAATGGCCACATGCAGTGTGGGGCCTGGTTTGGGTCCTGACATGGGAAGAGGACATCAAGAGGAAATGGGAAATTTGGAAAATGCTGTGGTTTAATGAATAGTATTAACCAATGTGAACTTGGTCATGCTGATCCGGAATGTGGGTGTGTGAGGCGTTAACCTCGGGGAGGCTAGGCGAAGGGTACATGGGAGCCTTCTGTACTGATTAAATAATAAATCTAAATT
|
TGCATTTACAACGCTATTGACACCGCTTTGCAGGAGAAGGCCATGTAAGGTGATGGGTATCAGCATTTGCCCAGGTCTCTCTTTCTTGGGTTAGCAAAACATTTCACTGCTCGGAATGGACATAAAGGTTGCATTTGCCCATCTGACGGAGGGCAGGGCTCTTCCTTTCTGTGCCTGAAGTGCCCTTAGACCTGGAGAGCCAGGGATTCCAGAACAGCCAGGCGGAAGCAGCTGGGTGGTGGGTGCCGTTTCTTGTTTGTCCCAGGTGGCCCCCATCTGGCCTCTGCTGACTGTGACTCTTGGAGGACGGGGTCTGCCCACTCTGGGACCCTGTCCATGCCCGACTGCTCCGAACATGTGGTTGTCACTTTCTTCTCTCCAGGCAGAAGCCTGCGGTCAGCTCCTTACCTTGAACATTCACATTGCAGGGAGACTGCAGGCATTACTGCCAGAGATTCACTCTCCTGAAATGCATGAAGGTTTTATGTAAAAGATCGACATTTCTGGCTGGGCGCGGTGGCTCATGCCCGTCATCTTAGCATTTTGAGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGCAGAAACCCTGTCCCTACTAAAACTACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAATGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAGACATTTCTAGTCGAACCTGGTTCATGTTCATTGAACATTTGCTGAGCATCTTTTAGGTGTTGGGTTTGTGCTGTGTGCTTCATGTCTCTGTTATTTATTGATAAACCATGTCTATATTATTTATGTCTATTTTTTATTGATAACCTATTTATTGATCAAGGTATGCTTACCTTATTCTCAGAAGTTTTTGACTCTAAATACCTTCTTTTTAGGTACACTGGAGCCCCATATTTTGCAGCAATCTCAGCTCTCAAAGTGGTATGTTTACTTAAAATTTCTTTATTGGGATTTTTCTGGTAGAGAGTTTGATTATTTAAATATGATTAAAGCAAATGTTTTCTGATAGAAATCTAAATAATATCTTAGGGTAATCATAGCTAATAGAAACACCGTTAAGTCTATCCTGACATCTGTGCATAAACAAGATCACTTCAGTTGAAGCTCATTTTTTTTTGAGACAGAGTTTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGGGATCTCGGCTCACAGCAACCTCCGCCGCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTGTTTGTATTTTTAGTAGAGTCAGGTTTTCTCTCTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCATGCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTCAATTGAAGCCCATTTTTAAAACCTAAAGCGTGATTTGTATTGTACTCCACCAAAGTGCACCTGGGATGCCTTTGTAGGTCGCAGCTGAAGCCGCTGATCCTGCAGTTTCCCATGAGCTGAGCAAGTGCTAACGGCCGGCCTCTTCCTGTGACCCTTCCTCCTGGAGGGTGACCAGACCGAGCTGGGCCGTGCTGGTGTGTGTGGCTCTGACCCTGCCTCTGCAGTGGCGGCAAAAGTCTTTCTTTTTAGGTATTGTGCTCTGCGCCCTGGCCCTTTGCTAAGCCACCTGGCTGGGTGTAATCCGAGCTAGTACGTTTCTCATGCACGTCACCAGGGCTGAGTAATGAGCGCTGGACGCCTGTGTCTGGCGGGTGGGCAGCGATGCCGGAGCGATCCCTGAGTCGGCCTCTTGTGCTCCTTCATCAGGGCGCAGACTTGTCCCACGTGTTCTGTGCCAGTGCGGCCGCACCTGTGATTAAGGCCTACAGCCCGGAGCTGATGGTCCACCCAGTTCTGTGAGTCGCTCTGCGCCGGCTTCTCGTAGGTTCTCTTTCCCTCCTGCATCATTTGGGGTTTTGGCACTGACACCGAAAGCGTCCTGATGGATTTTCCATCCTCAGAGTTTCTCAGCAGGTGCTGTAGAGGAAGTAGGGAAATGAAGGAGCCCGTTCTTCTGGGGTCAGAATAAGACAGAGACGGCGGGGTGGAGAGGTGGGTGGGGGAGCTTGGGCCTGTTGGAAATGGCCGGGGCCCAGCTCCAGAGGCAGGGAGGCCCTGTGGGCTGTGTGTGACAGGTTTGCAGAAGGTGGAAACGAAGGGCCTCTGAGCAATAACAAGACCCTTCCTGCACTCGGCACATATGTCTGGTGCCAGGCCCTAGCCTGTGTTCCATGGGTCAGCGTGGAACTGGGCAGGCAAAAACCTGCCCCCGTGGGGCTCCCCCAGACCGCCTATGCTATAGAGCTTGCTGTGTGGAGGTGTTCTCTCTGCCGTCCAGGATTGTGGCCACTGAGGGCTTGAAATGTGGCTGGGAGGTGCGGGAGCAGAGCGTTTGCTCTTGTTTACTTTTCATTGTGTGTGTTTGCACCGACTGGATTGGGCTGTGCTGCTCTGGAGACAAGGGAGAGGAGGATGTCAGGTGGTGAAGGAACCGTAGAGAGCGGCAGCAGGGAGGGGGCTGTGAGAGTGGGCAGAGGGGCAGTTGGGGCGGCAGCACAGTGTGATGACGCCTGGGTCGAGCCCGGCCTCTCCACACCAGAGAGGAGCCGGCGCGGAGCTCCAGGTGCGGTGCTGTGATGTGTCGGGTGACCAAGAGGTGCAGGGCTGGGCCCCACAGGGTGTGGGGCTGCTGTCAGGGCTGTGGCTCTGGCCCTGAGTAAGCAGGGCAGGGCCAGTGTGGGTCATAAAGGCTCCTACGCGGCTGTGGGGCTGGGCCGGAGGCTGTGGTAAGGACCTGTGGGAGGGAAGGGTGCAGTCAGATGGTGAGAGGGGCCGGATTCTGGGTATGTTTGGAAAGTTTGGGGGTGGAATTTGCCGACAGATTGGATTGGAAAAGGCAAGGGGCACAGACTCCACCAAGGGTTTTGGTCTGAGCGAGTGGTCACTCCATGTGGTGGAAACGGGCTTGGGTGGGATGAAGATGAGGCGTTGGGTGTAGGGCGCAGTTTGGCTGCCAGTTAGACATCCAAGGGACGTGGCTAGAGGGCATTGGACAGTGGGGACACGGGCTTGGGAGTCATGCACATGTGGACGGTGCTTAAAGCTGGAAGACGAGGGAGTAAGAGGCGGAGGGGGGCTGGGGTTGGGGGCAGGGGGGACTTGGCACTCAGATGCTGGGAGCACGGGCTGGGGAGGAGGCAGCAGGGGCCTCCAGGAGTCAGTGAAGCCGCTGTTTCCAGACAGCTCCAGAAGGGCCTGTGTGTGCGACTCTGGGTCAGTTGGAGATGAGGCCTGAGAACAGTTGGTGCATCTCACAGTGCGGGGTGACCCTGACAAGGGAGCTTGTCGGGGAGGAAAGGGGACAGAAGCCTTAACAGTGGGCTCTAGGAGAGGTCACACCGAACAGGAAGGAGTTCTGAAAAAGCAAACCCCTGCCCTGTTCTGAATGAGAAACTGCAGCAGGGTCAGTGCGTTGTGTGGGGCCTGGTCTATAAGCACACAAAGTAGGCTTTACAGCCACACATGTATGTGATGGAAACAAACGGGCTAACTTTAGAGGGCAAAGATGATTTTGAAAATAGCCATCGTTCTTTTTCTAACTTGTCGTAACTGTTGAAAGCTAGGCATGTAAATCTGGGCATTAAAAGAGAGATCAGGGAGAGGCAATGGCCACATGCAGTGTGGGGCCTGGTTTGGGTCCTGACATGGGAAGAGGACATCAAGAGGAAATGGGAAATTTGGAAAATGCTGTGGTTTAATGAATAGTATTAACCAATGTGAACTTGGTCATGCTGATCCGGAATGTGGGTGTGTGAGGCGTTAACCTCGGGGAGGCTAGGCGAAGGGTACATGGGAGCCTTCTGTACTGATTAAATAATAAATCTAAATT
|
Task1_train_19419
|
This genomic variant is located on Chromosome 13, within the ING1 (inhibitor of growth family member 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Squamous cell carcinoma of the head and neck
|
GAGTTGGGAGACCAGCCTGTCCAACATGGAGACACCCTGTCTCTACTGAAAATACAGAATTAGCCGGGCGTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCTTTTGTTTCTTGAGAAATTGCCTAATTACACTTGCCAAATTACACTTTAAAATCATATACACTGTCCTCTAACATGCCCAGGAAGGTTTACATTTAAATACTGAAGAGGTTTTCTTTTGTTTTTGATAACATTTTAAAGTCCATTGACTTTAACAGATGTGAAGATGTTTTTGTTTAAGCAGTAGATGCAAAAGTAAAACCTACCAGCTTCGCTTTAAAGCAAGGCTAGTGCATTCACTGCAGTTAAAAAATAATAATAATAGCCCATCACAGTGGTGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTCCCTTGAACCTGGGAGGTCGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACGGACCTTGTCTCCAAAATAATAACAAGTCGTAATAATAATAAAGCAAAGCTAGGTTTTCTGGATTATTGTGGCAGAACTGTTCTTGCTGTCACTAATACAGAGGGATAACATGCTAGAATAAATGTGGGGACTGAAACTGAGGACCTAAGTCACAAAGTATCCTGGACCTTTACTGTTAACCCGGTTCTTTAAATCATAGAGAGCTATTATATAAATTTATACACATTCTCTCATTTAACAGGGTATTCTAGATGTTGGTATATTAAAATAAAGAAAATAAAGACCTTTTTTATTTGAAATATTCAAATAATTTATAATATATTTTATTAATGTTTGTATATTGTGTATAAATGTAATAAATACCATGTTTATATAATGTTATATGTATATTAATAATTGTATTCAAATAGAAACATTTGAGTAAAAATGATGGCAGTATAGACATAGTCATTAATAGAAAGTATTAATAAATGTTGGGTCCCGAGCACTGCACCTCATTTAAACGTTTCCTCTTAATGGCTTCGGGCGTTGTCACCCGTGCGTGCCTGGGAACTGTTCTCAGGTTCCCTGGGGTGGCTGGAGCGGCTCCTGCCGCTGTGGAAGCTGGGCCGGCATTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGGTTAGCACAGGAACAGATAGGCCCGGGAGAGCCTGTGGCTGGTGGGCTTTGTTCTGGGCAAGCCGTGCGCTGGCCCCTAGGCTCCCTGCCAGCCCTCTCCGTAGACCCGTCCGGGGCCGTGTGGGTTGTCCCGGTGTCCTGCTCGCGAGTGACGCCTGTCCTTCTTGCCCCCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAAGCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGAGCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGGCAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGAGAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAAGAAGCGCTCCAAGGCCAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTGCAACCAGGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACCCAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTACAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGGAGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCATTGGTACACGTGTAACAAGAAAGTGGTCTGTGGATCAGCATTTTAGAAACTACAAATATAGGTTTGATTCAACACTTAAGTCTCAGACTGATTTCTTGCGGGAGGAGGGGGACTAAACTCAACCTAACACATTAAATGTGGAAGGAAAATATTTCATTTAGCTTTTTTATTTTAATACAAGTAATATTATTACTTTATGAACAATTTTTTTTAATTGGCCATGTCGCCAAAAATACAGCCTATAGTAAATGTGTTTCTTGCTGCCATGATGTATATCCATATAACAATTCAGTAACAAAGGTTTAAAGTTTGAAGATTATTTTTTAAAAAGGTAAATGGTTAAATTTTACATGACAGATATTTTATCTATTGGCCTGTTCCCCAAATGGCCATTTTAAAATGCTTGGGTACACTTCTCTTAAGTGGTCTAGTCAAGGAACCTCAAGTCATGCTTTTGCTATCACCAATCATAGTGTACCCATCTTTAATTTATATCAGGTGTATAAATGTACATTTCCAAATGAACTTGCACTTGTTATATTATAATTGGAAGTGCAGTCAGCAGATGCTGTTGTGAAGCTAATGTCACAATTATGTGCAAAGGTGTGCTTCCTGCTGTATGTGAGCTGTAAAAATGTTACGTGAAGAAATAAATGAAACTTGGCCAGTTTGTTCCTCTAGTAGTATATTTAATTTTGACATAAGTAACTTTTAAAATTTGTCTTAAAAATTTATACACCAGCAATTTAGACAAAGCCTTAAGCAAATTTTGTATTATTGTTCTCACTTATTATTAATAATGAAGTAGAAGTTACTTAATTGCCAGCAAATAAATACGTGTCAAAAAAGAATCTGTATTCAGACCCTGGGTCAGGAAATTACTGCCCACTTGTCAAGTTCAGCCCACCATCTGTTTGAAGATTATATGAAGTTTAAATTCTAGTGTCCATAAATAAAGTTTCAGCGGAACACAGCCGTGCTTATGTGCGTATGTATTGTCTGACTGCTTTTGCAAAACGGCAGAGTTCAATAGTTGCACCTGAAACCATTTGACTTGACAAGCCAAAACTATTTTCTGGCCCTCTGCAGAAAGGGTTTGCTGACCTCTGATTTAGACTAGCATCTAACATTGATTTGCCCACATATTGAAAGGGTCAGTGGAGTTTTCATTTATTATTTTTTATTTTTTTGAGATTGAGTTCCAGGCTGGAGTGCAATAGCGCAATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTCAGTAGAGACGCGGTTTCTCCATGTTGGTCATGGCTGGTCTCGCACTCCCGACCTCAGGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGAGTTTTCATTTTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCTCCAGGCTAGAGTGCAGTGGCCCAGTCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACT
|
GAGTTGGGAGACCAGCCTGTCCAACATGGAGACACCCTGTCTCTACTGAAAATACAGAATTAGCCGGGCGTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCTTTTGTTTCTTGAGAAATTGCCTAATTACACTTGCCAAATTACACTTTAAAATCATATACACTGTCCTCTAACATGCCCAGGAAGGTTTACATTTAAATACTGAAGAGGTTTTCTTTTGTTTTTGATAACATTTTAAAGTCCATTGACTTTAACAGATGTGAAGATGTTTTTGTTTAAGCAGTAGATGCAAAAGTAAAACCTACCAGCTTCGCTTTAAAGCAAGGCTAGTGCATTCACTGCAGTTAAAAAATAATAATAATAGCCCATCACAGTGGTGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTCCCTTGAACCTGGGAGGTCGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACGGACCTTGTCTCCAAAATAATAACAAGTCGTAATAATAATAAAGCAAAGCTAGGTTTTCTGGATTATTGTGGCAGAACTGTTCTTGCTGTCACTAATACAGAGGGATAACATGCTAGAATAAATGTGGGGACTGAAACTGAGGACCTAAGTCACAAAGTATCCTGGACCTTTACTGTTAACCCGGTTCTTTAAATCATAGAGAGCTATTATATAAATTTATACACATTCTCTCATTTAACAGGGTATTCTAGATGTTGGTATATTAAAATAAAGAAAATAAAGACCTTTTTTATTTGAAATATTCAAATAATTTATAATATATTTTATTAATGTTTGTATATTGTGTATAAATGTAATAAATACCATGTTTATATAATGTTATATGTATATTAATAATTGTATTCAAATAGAAACATTTGAGTAAAAATGATGGCAGTATAGACATAGTCATTAATAGAAAGTATTAATAAATGTTGGGTCCCGAGCACTGCACCTCATTTAAACGTTTCCTCTTAATGGCTTCGGGCGTTGTCACCCGTGCGTGCCTGGGAACTGTTCTCAGGTTCCCTGGGGTGGCTGGAGCGGCTCCTGCCGCTGTGGAAGCTGGGCCGGCATTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGGTTAGCACAGGAACAGATAGGCCCGGGAGAGCCTGTGGCTGGTGGGCTTTGTTCTGGGCAAGCCGTGCGCTGGCCCCTAGGCTCCCTGCCAGCCCTCTCCGTAGACCCGTCCGGGGCCGTGTGGGTTGTCCCGGTGTCCTGCTCGCGAGTGACGCCTGTCCTTCTTGCCCCCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAAGCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGAGCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGGCAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGAGAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAAGAAGCGCTCCAAGGACAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTGCAACCAGGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACCCAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTACAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGGAGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCATTGGTACACGTGTAACAAGAAAGTGGTCTGTGGATCAGCATTTTAGAAACTACAAATATAGGTTTGATTCAACACTTAAGTCTCAGACTGATTTCTTGCGGGAGGAGGGGGACTAAACTCAACCTAACACATTAAATGTGGAAGGAAAATATTTCATTTAGCTTTTTTATTTTAATACAAGTAATATTATTACTTTATGAACAATTTTTTTTAATTGGCCATGTCGCCAAAAATACAGCCTATAGTAAATGTGTTTCTTGCTGCCATGATGTATATCCATATAACAATTCAGTAACAAAGGTTTAAAGTTTGAAGATTATTTTTTAAAAAGGTAAATGGTTAAATTTTACATGACAGATATTTTATCTATTGGCCTGTTCCCCAAATGGCCATTTTAAAATGCTTGGGTACACTTCTCTTAAGTGGTCTAGTCAAGGAACCTCAAGTCATGCTTTTGCTATCACCAATCATAGTGTACCCATCTTTAATTTATATCAGGTGTATAAATGTACATTTCCAAATGAACTTGCACTTGTTATATTATAATTGGAAGTGCAGTCAGCAGATGCTGTTGTGAAGCTAATGTCACAATTATGTGCAAAGGTGTGCTTCCTGCTGTATGTGAGCTGTAAAAATGTTACGTGAAGAAATAAATGAAACTTGGCCAGTTTGTTCCTCTAGTAGTATATTTAATTTTGACATAAGTAACTTTTAAAATTTGTCTTAAAAATTTATACACCAGCAATTTAGACAAAGCCTTAAGCAAATTTTGTATTATTGTTCTCACTTATTATTAATAATGAAGTAGAAGTTACTTAATTGCCAGCAAATAAATACGTGTCAAAAAAGAATCTGTATTCAGACCCTGGGTCAGGAAATTACTGCCCACTTGTCAAGTTCAGCCCACCATCTGTTTGAAGATTATATGAAGTTTAAATTCTAGTGTCCATAAATAAAGTTTCAGCGGAACACAGCCGTGCTTATGTGCGTATGTATTGTCTGACTGCTTTTGCAAAACGGCAGAGTTCAATAGTTGCACCTGAAACCATTTGACTTGACAAGCCAAAACTATTTTCTGGCCCTCTGCAGAAAGGGTTTGCTGACCTCTGATTTAGACTAGCATCTAACATTGATTTGCCCACATATTGAAAGGGTCAGTGGAGTTTTCATTTATTATTTTTTATTTTTTTGAGATTGAGTTCCAGGCTGGAGTGCAATAGCGCAATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTCAGTAGAGACGCGGTTTCTCCATGTTGGTCATGGCTGGTCTCGCACTCCCGACCTCAGGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGAGTTTTCATTTTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCTCCAGGCTAGAGTGCAGTGGCCCAGTCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACT
|
Task1_train_19420
|
A variant on Chromosome 13 in gene ING1 (inhibitor of growth family member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Squamous cell carcinoma of the head and neck
|
GTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCTTTTGTTTCTTGAGAAATTGCCTAATTACACTTGCCAAATTACACTTTAAAATCATATACACTGTCCTCTAACATGCCCAGGAAGGTTTACATTTAAATACTGAAGAGGTTTTCTTTTGTTTTTGATAACATTTTAAAGTCCATTGACTTTAACAGATGTGAAGATGTTTTTGTTTAAGCAGTAGATGCAAAAGTAAAACCTACCAGCTTCGCTTTAAAGCAAGGCTAGTGCATTCACTGCAGTTAAAAAATAATAATAATAGCCCATCACAGTGGTGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTCCCTTGAACCTGGGAGGTCGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACGGACCTTGTCTCCAAAATAATAACAAGTCGTAATAATAATAAAGCAAAGCTAGGTTTTCTGGATTATTGTGGCAGAACTGTTCTTGCTGTCACTAATACAGAGGGATAACATGCTAGAATAAATGTGGGGACTGAAACTGAGGACCTAAGTCACAAAGTATCCTGGACCTTTACTGTTAACCCGGTTCTTTAAATCATAGAGAGCTATTATATAAATTTATACACATTCTCTCATTTAACAGGGTATTCTAGATGTTGGTATATTAAAATAAAGAAAATAAAGACCTTTTTTATTTGAAATATTCAAATAATTTATAATATATTTTATTAATGTTTGTATATTGTGTATAAATGTAATAAATACCATGTTTATATAATGTTATATGTATATTAATAATTGTATTCAAATAGAAACATTTGAGTAAAAATGATGGCAGTATAGACATAGTCATTAATAGAAAGTATTAATAAATGTTGGGTCCCGAGCACTGCACCTCATTTAAACGTTTCCTCTTAATGGCTTCGGGCGTTGTCACCCGTGCGTGCCTGGGAACTGTTCTCAGGTTCCCTGGGGTGGCTGGAGCGGCTCCTGCCGCTGTGGAAGCTGGGCCGGCATTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGGTTAGCACAGGAACAGATAGGCCCGGGAGAGCCTGTGGCTGGTGGGCTTTGTTCTGGGCAAGCCGTGCGCTGGCCCCTAGGCTCCCTGCCAGCCCTCTCCGTAGACCCGTCCGGGGCCGTGTGGGTTGTCCCGGTGTCCTGCTCGCGAGTGACGCCTGTCCTTCTTGCCCCCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAAGCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGAGCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGGCAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGAGAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAAGAAGCGCTCCAAGGCCAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTGCAACCAGGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACCCAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTACAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGGAGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCATTGGTACACGTGTAACAAGAAAGTGGTCTGTGGATCAGCATTTTAGAAACTACAAATATAGGTTTGATTCAACACTTAAGTCTCAGACTGATTTCTTGCGGGAGGAGGGGGACTAAACTCAACCTAACACATTAAATGTGGAAGGAAAATATTTCATTTAGCTTTTTTATTTTAATACAAGTAATATTATTACTTTATGAACAATTTTTTTTAATTGGCCATGTCGCCAAAAATACAGCCTATAGTAAATGTGTTTCTTGCTGCCATGATGTATATCCATATAACAATTCAGTAACAAAGGTTTAAAGTTTGAAGATTATTTTTTAAAAAGGTAAATGGTTAAATTTTACATGACAGATATTTTATCTATTGGCCTGTTCCCCAAATGGCCATTTTAAAATGCTTGGGTACACTTCTCTTAAGTGGTCTAGTCAAGGAACCTCAAGTCATGCTTTTGCTATCACCAATCATAGTGTACCCATCTTTAATTTATATCAGGTGTATAAATGTACATTTCCAAATGAACTTGCACTTGTTATATTATAATTGGAAGTGCAGTCAGCAGATGCTGTTGTGAAGCTAATGTCACAATTATGTGCAAAGGTGTGCTTCCTGCTGTATGTGAGCTGTAAAAATGTTACGTGAAGAAATAAATGAAACTTGGCCAGTTTGTTCCTCTAGTAGTATATTTAATTTTGACATAAGTAACTTTTAAAATTTGTCTTAAAAATTTATACACCAGCAATTTAGACAAAGCCTTAAGCAAATTTTGTATTATTGTTCTCACTTATTATTAATAATGAAGTAGAAGTTACTTAATTGCCAGCAAATAAATACGTGTCAAAAAAGAATCTGTATTCAGACCCTGGGTCAGGAAATTACTGCCCACTTGTCAAGTTCAGCCCACCATCTGTTTGAAGATTATATGAAGTTTAAATTCTAGTGTCCATAAATAAAGTTTCAGCGGAACACAGCCGTGCTTATGTGCGTATGTATTGTCTGACTGCTTTTGCAAAACGGCAGAGTTCAATAGTTGCACCTGAAACCATTTGACTTGACAAGCCAAAACTATTTTCTGGCCCTCTGCAGAAAGGGTTTGCTGACCTCTGATTTAGACTAGCATCTAACATTGATTTGCCCACATATTGAAAGGGTCAGTGGAGTTTTCATTTATTATTTTTTATTTTTTTGAGATTGAGTTCCAGGCTGGAGTGCAATAGCGCAATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTCAGTAGAGACGCGGTTTCTCCATGTTGGTCATGGCTGGTCTCGCACTCCCGACCTCAGGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGAGTTTTCATTTTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCTCCAGGCTAGAGTGCAGTGGCCCAGTCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGC
|
GTGGTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCTTTTGTTTCTTGAGAAATTGCCTAATTACACTTGCCAAATTACACTTTAAAATCATATACACTGTCCTCTAACATGCCCAGGAAGGTTTACATTTAAATACTGAAGAGGTTTTCTTTTGTTTTTGATAACATTTTAAAGTCCATTGACTTTAACAGATGTGAAGATGTTTTTGTTTAAGCAGTAGATGCAAAAGTAAAACCTACCAGCTTCGCTTTAAAGCAAGGCTAGTGCATTCACTGCAGTTAAAAAATAATAATAATAGCCCATCACAGTGGTGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTCCCTTGAACCTGGGAGGTCGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACGGACCTTGTCTCCAAAATAATAACAAGTCGTAATAATAATAAAGCAAAGCTAGGTTTTCTGGATTATTGTGGCAGAACTGTTCTTGCTGTCACTAATACAGAGGGATAACATGCTAGAATAAATGTGGGGACTGAAACTGAGGACCTAAGTCACAAAGTATCCTGGACCTTTACTGTTAACCCGGTTCTTTAAATCATAGAGAGCTATTATATAAATTTATACACATTCTCTCATTTAACAGGGTATTCTAGATGTTGGTATATTAAAATAAAGAAAATAAAGACCTTTTTTATTTGAAATATTCAAATAATTTATAATATATTTTATTAATGTTTGTATATTGTGTATAAATGTAATAAATACCATGTTTATATAATGTTATATGTATATTAATAATTGTATTCAAATAGAAACATTTGAGTAAAAATGATGGCAGTATAGACATAGTCATTAATAGAAAGTATTAATAAATGTTGGGTCCCGAGCACTGCACCTCATTTAAACGTTTCCTCTTAATGGCTTCGGGCGTTGTCACCCGTGCGTGCCTGGGAACTGTTCTCAGGTTCCCTGGGGTGGCTGGAGCGGCTCCTGCCGCTGTGGAAGCTGGGCCGGCATTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGGTTAGCACAGGAACAGATAGGCCCGGGAGAGCCTGTGGCTGGTGGGCTTTGTTCTGGGCAAGCCGTGCGCTGGCCCCTAGGCTCCCTGCCAGCCCTCTCCGTAGACCCGTCCGGGGCCGTGTGGGTTGTCCCGGTGTCCTGCTCGCGAGTGACGCCTGTCCTTCTTGCCCCCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAAGCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGAGCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGGCAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGAGAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAAGAAGCGCTCCAAGGCCAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTCCAACCAGGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACCCAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTACAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGGAGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCATTGGTACACGTGTAACAAGAAAGTGGTCTGTGGATCAGCATTTTAGAAACTACAAATATAGGTTTGATTCAACACTTAAGTCTCAGACTGATTTCTTGCGGGAGGAGGGGGACTAAACTCAACCTAACACATTAAATGTGGAAGGAAAATATTTCATTTAGCTTTTTTATTTTAATACAAGTAATATTATTACTTTATGAACAATTTTTTTTAATTGGCCATGTCGCCAAAAATACAGCCTATAGTAAATGTGTTTCTTGCTGCCATGATGTATATCCATATAACAATTCAGTAACAAAGGTTTAAAGTTTGAAGATTATTTTTTAAAAAGGTAAATGGTTAAATTTTACATGACAGATATTTTATCTATTGGCCTGTTCCCCAAATGGCCATTTTAAAATGCTTGGGTACACTTCTCTTAAGTGGTCTAGTCAAGGAACCTCAAGTCATGCTTTTGCTATCACCAATCATAGTGTACCCATCTTTAATTTATATCAGGTGTATAAATGTACATTTCCAAATGAACTTGCACTTGTTATATTATAATTGGAAGTGCAGTCAGCAGATGCTGTTGTGAAGCTAATGTCACAATTATGTGCAAAGGTGTGCTTCCTGCTGTATGTGAGCTGTAAAAATGTTACGTGAAGAAATAAATGAAACTTGGCCAGTTTGTTCCTCTAGTAGTATATTTAATTTTGACATAAGTAACTTTTAAAATTTGTCTTAAAAATTTATACACCAGCAATTTAGACAAAGCCTTAAGCAAATTTTGTATTATTGTTCTCACTTATTATTAATAATGAAGTAGAAGTTACTTAATTGCCAGCAAATAAATACGTGTCAAAAAAGAATCTGTATTCAGACCCTGGGTCAGGAAATTACTGCCCACTTGTCAAGTTCAGCCCACCATCTGTTTGAAGATTATATGAAGTTTAAATTCTAGTGTCCATAAATAAAGTTTCAGCGGAACACAGCCGTGCTTATGTGCGTATGTATTGTCTGACTGCTTTTGCAAAACGGCAGAGTTCAATAGTTGCACCTGAAACCATTTGACTTGACAAGCCAAAACTATTTTCTGGCCCTCTGCAGAAAGGGTTTGCTGACCTCTGATTTAGACTAGCATCTAACATTGATTTGCCCACATATTGAAAGGGTCAGTGGAGTTTTCATTTATTATTTTTTATTTTTTTGAGATTGAGTTCCAGGCTGGAGTGCAATAGCGCAATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTCAGTAGAGACGCGGTTTCTCCATGTTGGTCATGGCTGGTCTCGCACTCCCGACCTCAGGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGAGTTTTCATTTTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCTCCAGGCTAGAGTGCAGTGGCCCAGTCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGC
|
Task1_train_19421
|
This genomic variant is located on Chromosome 13, within the ING1 (inhibitor of growth family member 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Squamous cell carcinoma of the head and neck
|
GTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCTTTTGTTTCTTGAGAAATTGCCTAATTACACTTGCCAAATTACACTTTAAAATCATATACACTGTCCTCTAACATGCCCAGGAAGGTTTACATTTAAATACTGAAGAGGTTTTCTTTTGTTTTTGATAACATTTTAAAGTCCATTGACTTTAACAGATGTGAAGATGTTTTTGTTTAAGCAGTAGATGCAAAAGTAAAACCTACCAGCTTCGCTTTAAAGCAAGGCTAGTGCATTCACTGCAGTTAAAAAATAATAATAATAGCCCATCACAGTGGTGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTCCCTTGAACCTGGGAGGTCGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACGGACCTTGTCTCCAAAATAATAACAAGTCGTAATAATAATAAAGCAAAGCTAGGTTTTCTGGATTATTGTGGCAGAACTGTTCTTGCTGTCACTAATACAGAGGGATAACATGCTAGAATAAATGTGGGGACTGAAACTGAGGACCTAAGTCACAAAGTATCCTGGACCTTTACTGTTAACCCGGTTCTTTAAATCATAGAGAGCTATTATATAAATTTATACACATTCTCTCATTTAACAGGGTATTCTAGATGTTGGTATATTAAAATAAAGAAAATAAAGACCTTTTTTATTTGAAATATTCAAATAATTTATAATATATTTTATTAATGTTTGTATATTGTGTATAAATGTAATAAATACCATGTTTATATAATGTTATATGTATATTAATAATTGTATTCAAATAGAAACATTTGAGTAAAAATGATGGCAGTATAGACATAGTCATTAATAGAAAGTATTAATAAATGTTGGGTCCCGAGCACTGCACCTCATTTAAACGTTTCCTCTTAATGGCTTCGGGCGTTGTCACCCGTGCGTGCCTGGGAACTGTTCTCAGGTTCCCTGGGGTGGCTGGAGCGGCTCCTGCCGCTGTGGAAGCTGGGCCGGCATTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGGTTAGCACAGGAACAGATAGGCCCGGGAGAGCCTGTGGCTGGTGGGCTTTGTTCTGGGCAAGCCGTGCGCTGGCCCCTAGGCTCCCTGCCAGCCCTCTCCGTAGACCCGTCCGGGGCCGTGTGGGTTGTCCCGGTGTCCTGCTCGCGAGTGACGCCTGTCCTTCTTGCCCCCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAAGCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGAGCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGGCAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGAGAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAAGAAGCGCTCCAAGGCCAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTGCAACCAGGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACCCAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTACAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGGAGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCATTGGTACACGTGTAACAAGAAAGTGGTCTGTGGATCAGCATTTTAGAAACTACAAATATAGGTTTGATTCAACACTTAAGTCTCAGACTGATTTCTTGCGGGAGGAGGGGGACTAAACTCAACCTAACACATTAAATGTGGAAGGAAAATATTTCATTTAGCTTTTTTATTTTAATACAAGTAATATTATTACTTTATGAACAATTTTTTTTAATTGGCCATGTCGCCAAAAATACAGCCTATAGTAAATGTGTTTCTTGCTGCCATGATGTATATCCATATAACAATTCAGTAACAAAGGTTTAAAGTTTGAAGATTATTTTTTAAAAAGGTAAATGGTTAAATTTTACATGACAGATATTTTATCTATTGGCCTGTTCCCCAAATGGCCATTTTAAAATGCTTGGGTACACTTCTCTTAAGTGGTCTAGTCAAGGAACCTCAAGTCATGCTTTTGCTATCACCAATCATAGTGTACCCATCTTTAATTTATATCAGGTGTATAAATGTACATTTCCAAATGAACTTGCACTTGTTATATTATAATTGGAAGTGCAGTCAGCAGATGCTGTTGTGAAGCTAATGTCACAATTATGTGCAAAGGTGTGCTTCCTGCTGTATGTGAGCTGTAAAAATGTTACGTGAAGAAATAAATGAAACTTGGCCAGTTTGTTCCTCTAGTAGTATATTTAATTTTGACATAAGTAACTTTTAAAATTTGTCTTAAAAATTTATACACCAGCAATTTAGACAAAGCCTTAAGCAAATTTTGTATTATTGTTCTCACTTATTATTAATAATGAAGTAGAAGTTACTTAATTGCCAGCAAATAAATACGTGTCAAAAAAGAATCTGTATTCAGACCCTGGGTCAGGAAATTACTGCCCACTTGTCAAGTTCAGCCCACCATCTGTTTGAAGATTATATGAAGTTTAAATTCTAGTGTCCATAAATAAAGTTTCAGCGGAACACAGCCGTGCTTATGTGCGTATGTATTGTCTGACTGCTTTTGCAAAACGGCAGAGTTCAATAGTTGCACCTGAAACCATTTGACTTGACAAGCCAAAACTATTTTCTGGCCCTCTGCAGAAAGGGTTTGCTGACCTCTGATTTAGACTAGCATCTAACATTGATTTGCCCACATATTGAAAGGGTCAGTGGAGTTTTCATTTATTATTTTTTATTTTTTTGAGATTGAGTTCCAGGCTGGAGTGCAATAGCGCAATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTCAGTAGAGACGCGGTTTCTCCATGTTGGTCATGGCTGGTCTCGCACTCCCGACCTCAGGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGAGTTTTCATTTTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCTCCAGGCTAGAGTGCAGTGGCCCAGTCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAG
|
GTATTACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTTTCAACAACAACAAAAAAAGGTAGTATTGTTGCCTTGTTTAAAGAGACTGCAAAAAGGTTTTAGGAGAATAATCTGGTACTGTTTAATTTAATGGTTACTGTTTGAGGAAAAAGAACTCTGGAATTTCTGTGTATTTAAGTAGCCTTTTTAGCAAGGCTGTTTACTTCAACTAGATTTTTTAATAGCTTTTGTTTCTTGAGAAATTGCCTAATTACACTTGCCAAATTACACTTTAAAATCATATACACTGTCCTCTAACATGCCCAGGAAGGTTTACATTTAAATACTGAAGAGGTTTTCTTTTGTTTTTGATAACATTTTAAAGTCCATTGACTTTAACAGATGTGAAGATGTTTTTGTTTAAGCAGTAGATGCAAAAGTAAAACCTACCAGCTTCGCTTTAAAGCAAGGCTAGTGCATTCACTGCAGTTAAAAAATAATAATAATAGCCCATCACAGTGGTGCTTCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGGTCCCTTGAACCTGGGAGGTCGAGGCTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGACGGACCTTGTCTCCAAAATAATAACAAGTCGTAATAATAATAAAGCAAAGCTAGGTTTTCTGGATTATTGTGGCAGAACTGTTCTTGCTGTCACTAATACAGAGGGATAACATGCTAGAATAAATGTGGGGACTGAAACTGAGGACCTAAGTCACAAAGTATCCTGGACCTTTACTGTTAACCCGGTTCTTTAAATCATAGAGAGCTATTATATAAATTTATACACATTCTCTCATTTAACAGGGTATTCTAGATGTTGGTATATTAAAATAAAGAAAATAAAGACCTTTTTTATTTGAAATATTCAAATAATTTATAATATATTTTATTAATGTTTGTATATTGTGTATAAATGTAATAAATACCATGTTTATATAATGTTATATGTATATTAATAATTGTATTCAAATAGAAACATTTGAGTAAAAATGATGGCAGTATAGACATAGTCATTAATAGAAAGTATTAATAAATGTTGGGTCCCGAGCACTGCACCTCATTTAAACGTTTCCTCTTAATGGCTTCGGGCGTTGTCACCCGTGCGTGCCTGGGAACTGTTCTCAGGTTCCCTGGGGTGGCTGGAGCGGCTCCTGCCGCTGTGGAAGCTGGGCCGGCATTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGTTGTGGTTAGCACAGGAACAGATAGGCCCGGGAGAGCCTGTGGCTGGTGGGCTTTGTTCTGGGCAAGCCGTGCGCTGGCCCCTAGGCTCCCTGCCAGCCCTCTCCGTAGACCCGTCCGGGGCCGTGTGGGTTGTCCCGGTGTCCTGCTCGCGAGTGACGCCTGTCCTTCTTGCCCCCAGAGATCCTGAAGGAGCTAGACGAGTGCTACGAGCGCTTCAGTCGCGAGACAGACGGGGCGCAGAAGCGGCGGATGCTGCACTGTGTGCAGCGCGCGCTGATCCGCAGCCAGGAGCTGGGCGACGAGAAGATCCAGATCGTGAGCCAGATGGTGGAGCTGGTGGAGAACCGCACGCGGCAGGTGGACAGCCACGTGGAGCTGTTCGAGGCGCAGCAGGAGCTGGGCGACACAGCGGGCAACAGCGGCAAGGCTGGCGCGGACAGGCCCAAAGGCGAGGCGGCAGCGCAGGCTGACAAGCCCAACAGCAAGCGCTCACGGCGGCAGCGCAACAACGAGAACCGTGAGAACGCGTCCAGCAACCACGACCACGACGACGGCGCCTCGGGCACACCCAAGGAGAAGAAGGCCAAGACCTCCAAGAAGAAGAAGCGCTCCAAGGCCAAGGCGGAGCGAGAGGCGTCCCCTGCCGACCTCCCCATCGACCCCAACGAACCCACGTACTGTCTGTGCAGCCAGGTCTCCTATGGGGAGATGATCGGCTGCGACAACGACGAGTGCCCCATCGAGTGGTTCCACTTCTCGTGCGTGGGGCTCAATCATAAACCCAAGGGCAAGTGGTACTGTCCCAAGTGCCGGGGGGAGAACGAGAAGACCATGGACAAAGCCCTGGAGAAATCCAAAAAAGAGAGGGCTTACAACAGGTAGTTTGTGGACAGGCGCCTGGTGTGAGGAGGACAAAATAAACCGTGTATTTATTACATTGCTGCCTTTGTTGAGGTGCAAGGAGTGTAAAATGTATATTTTTAAAGAATGTTAGTAAAGGAACCATTCCTTTCATAGGGATGGCAGTGATTCTGTTTGCCTTTTGTTTTCATTGGTACACGTGTAACAAGAAAGTGGTCTGTGGATCAGCATTTTAGAAACTACAAATATAGGTTTGATTCAACACTTAAGTCTCAGACTGATTTCTTGCGGGAGGAGGGGGACTAAACTCAACCTAACACATTAAATGTGGAAGGAAAATATTTCATTTAGCTTTTTTATTTTAATACAAGTAATATTATTACTTTATGAACAATTTTTTTTAATTGGCCATGTCGCCAAAAATACAGCCTATAGTAAATGTGTTTCTTGCTGCCATGATGTATATCCATATAACAATTCAGTAACAAAGGTTTAAAGTTTGAAGATTATTTTTTAAAAAGGTAAATGGTTAAATTTTACATGACAGATATTTTATCTATTGGCCTGTTCCCCAAATGGCCATTTTAAAATGCTTGGGTACACTTCTCTTAAGTGGTCTAGTCAAGGAACCTCAAGTCATGCTTTTGCTATCACCAATCATAGTGTACCCATCTTTAATTTATATCAGGTGTATAAATGTACATTTCCAAATGAACTTGCACTTGTTATATTATAATTGGAAGTGCAGTCAGCAGATGCTGTTGTGAAGCTAATGTCACAATTATGTGCAAAGGTGTGCTTCCTGCTGTATGTGAGCTGTAAAAATGTTACGTGAAGAAATAAATGAAACTTGGCCAGTTTGTTCCTCTAGTAGTATATTTAATTTTGACATAAGTAACTTTTAAAATTTGTCTTAAAAATTTATACACCAGCAATTTAGACAAAGCCTTAAGCAAATTTTGTATTATTGTTCTCACTTATTATTAATAATGAAGTAGAAGTTACTTAATTGCCAGCAAATAAATACGTGTCAAAAAAGAATCTGTATTCAGACCCTGGGTCAGGAAATTACTGCCCACTTGTCAAGTTCAGCCCACCATCTGTTTGAAGATTATATGAAGTTTAAATTCTAGTGTCCATAAATAAAGTTTCAGCGGAACACAGCCGTGCTTATGTGCGTATGTATTGTCTGACTGCTTTTGCAAAACGGCAGAGTTCAATAGTTGCACCTGAAACCATTTGACTTGACAAGCCAAAACTATTTTCTGGCCCTCTGCAGAAAGGGTTTGCTGACCTCTGATTTAGACTAGCATCTAACATTGATTTGCCCACATATTGAAAGGGTCAGTGGAGTTTTCATTTATTATTTTTTATTTTTTTGAGATTGAGTTCCAGGCTGGAGTGCAATAGCGCAATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGCCTCCCCAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTCAGTAGAGACGCGGTTTCTCCATGTTGGTCATGGCTGGTCTCGCACTCCCGACCTCAGGTGATCCACCTGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCTGGAGTTTTCATTTTTTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCTCCAGGCTAGAGTGCAGTGGCCCAGTCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAG
|
Task1_train_19422
|
The gene ATP11A, LOC130010167 (ATPase phospholipid transporting 11A| ATAC-STARR-seq lymphoblastoid silent region 5534) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Hearing loss, autosomal dominant 84
|
CTGATTGCGCCTCGACCCCAATCCCACAGTCACGGTTTACAAGGTAGAAGCTTAGTCAAAATCCGGCTTCAGCAGTCAGGGTTCTTGCAGGAAACTGAAGGTGTTCTTGGGAGGGGATTTGGAAGCGAGTTTGATGAAGGACTCTTTGTTGCGGTGTGGTCATGGTTCAAGGATCCTTCAAAGGGTGCTGCTATTTAGGGACCAGCAACAATGGCAGACCGACAACATGTCTCACCCTAAGAGGCTTGGGGGCGGGGAGAAGTTCTGTTCGTAGAGCCTAGAGGAGTTGTGCAATGGAAAGGGCACCCAGGAAGAATCGTAGCCACAGAGTGAAACCAACACTGGTGGGTGTGGGGCCAGGCCAGGAAGGAGAGGGGAAGAGGCCCCTGCCTCCCTCCTACCCGGTCTGCAGCAGGTTGTCCCTGTGGGTGAAGATCCACTGAGGGGGACCGCCAGCTTCCTGAGCACAGGGCAGGCCAGAGCAGGACAGGCTGGGATGGAAAATGAAGAATCAGTGCTTTAGCCGACAACAAATGGGAGCCGTTTACTGTTTAGTCACTATGATTAGTGTTCACTAGTACTCATTTCTCTTCGTCTAAAAAGTGGCCAACACCATCTCTTTTCCACAAGCACTCGGGAGAACATTCATATTCAATTGCCTTCCTAAGACCCAGACGGGGCAGCGCTCTCCACAGGCCACCAAAAGGTGTTGCCTGTTTGGTTTCATCAGTGATTATCTGTGGCAGCAAGACAGGAAGTTGGAAATCAAGTACCTCAATTAAGTCAAGGCTGACCGTGGAATTAGAGAACAAGTGTTTGTTACCCCGGCCAGGTCACCCTAGGGAAAACAGGCATTCTCCGGGATTGAAATGGTGGTGTTTGTGTGGTAAATAGTTCTCAGTCCAGTTCAAAGCCAGCAGCATTAAGGACACGCCACCGCCACCGGGAGCTGGAGACCAGGCGAAGCTGAGCTCCTCTGTGGTTCACCAACCCCTCAGGCCGCCTAAGTGTCTTCTGCTGTCGCAGCTTTGGGGACAGAGGGGTTTCGGAAACAGGGGCCTCTTGTCTGCACCCTCCCCTCCCACTGACAGGCTGGCAGCCCAGGGCAGCCACCTGAGGAGCGTCCCTGTGTCTCTCCATCTGCAGAGCAGGAAAAGCCTGCGGGTCGGTGGCGCCACGCTGGGGCGAGACCCAGCTTCGGCTCAGGAGATCTCCCACCCAGCCGGACTCCCGCTCTCTGCCCGCGGCCCCCTCCCACACTCCCACCTCGCCCCGCGATCTCACTGCCCCATCGAGGCTTCCGGGCGGAGGAGAAAAGTTTTCCGGCAGGAACCCGGGAAGGAAGCCCTGGGACCCTGGCTGAAACTCCGGGTTTCCCCAGTGCCGAGTCCCTTCCCCGCCGCGCCCAGCGCCTGCGCCCCGGGAGGCGGAAGCAACAGGGGGGTTCCTCCCCGCGGCCTCTGACCTCTGCCCTCTGCCCTCTGCCCCCAGGGTCTGGGGCCCGGGCGGAGGCGCGAGGGGGCAGGGCCGGCGCGCGGGTGCGAGCGCGGGTGTGGGCGCGGGGCCGGCGGGGGCTGCGGCCGCGGGGCGCATGCTCACTTGCGCCGGTGACGTGCGCGCCCGGAGCAGGGGCAGGAGCCAGCGGGGCCCGGAGGCTCCAGAGGGCGGCGGGCAGGGGAGGAGGAGACTCGGGAGGAGCAGAGCGCAGGCTCCGCCGCGGCCGGGGTGCTCCAGCCGAGCCCAACCGAGCGGGCGGACCGACGGGGAGAGAGAAGGCGCCAGAGCGCGCGCGCGCGGCCCCGAGCAGCAGCCTTGCCGCCAGTGGAGCAGCTGCCGACGCGCGGGGCCGCGGACCCAGCATTCGCCGGCCGGGCCGGGCATGAGCGCGGAGGGGCCGCGGCCGCCCCCTGCACCGCCCGGCGCGCCGAGGCCGTGACCGGAGCGGGGGGCGCGGCCGCACTAGTACCCCGGAGCCCATGGGCGCGCCGAGCCGGGCGCGGGGGCGCTGAACGGCGGAGCGGGAGCGGCCGGAGGAGCCATGGACTGCAGCCTCGTGCGGACGCTCGTGCACAGATACGTGAGTGCTCCCGGCGCGGGCTGGGGGACCCGGGGACCAGACAGACGCGGGCCGGCCCCGCAGCCCGGACCCTGTGGCCGGTCCAGCCCCGGGGTCCCGGGAGGTCTCCGATGTCTGGGACTCGGACCGCCCCCGGGGACGAGCGGGATGCTGGGGAGGGGCCTCGGAGTTGACACCCTGGGGCTTCCGACGGGGTCTAGGTGGGCACAGCGCGGGGCCCCAGCCCCGGGCGGCCACCTGCTCCCTGGCCGCGGCCGCCTGGCGCCCCCTTCCCGCCCGCAGCGCCCTGGGGGTCCCTCGGAGAGGCTGGCTGGGGTTCGAGCTGTCCCGGCGGACCGGGCGCCCGGAGGGAGCCAACTTCGACCCCGCCGGGGCCCGGGTCTGGGGAGGAACCTTCAGATGCGGCTTCCGCGCAGCCGTGTCTGTAAGATTAAGGGATTGGGAGGAAGCGTTACACTTCTGCAGAAAAAGGTAGCAATTGTGTTTGTTCTTTAACACCCCTGGGGGATTCAGAAGCGGAGTTTGGAATCTTTTTATTTTTTACCTTAAAGTAACCAATTAGATCAGAAGTCCGGGGTCTTCTTGGGTTCCTCTGGAATTTGCCCCTTCAGTGATAAGCAAGTGAAGAGCTCAGGAGGGAAGACTCGGAAGGGGAAAAGTTGATTTTGTTTTACACCAGAGGAGGGGAAACCGGAATCCCTGGCGTTAGGTGTAAAAAGGGGTGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCGGACCGACATGGTGAAACCCCGTCTCTGCTAAAAAATACGAAAATTAGCCGGGCGTGGTGGTAGGCGCCTGGGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGTGGTTGCAATGAGCCGAGATCGAGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCTGTATCAAAAAAAAAAAAAAAAAAGGGTGTGTGTGTGTGTGTGTGTGTGTAGGAGAGGAAGAAAACTGTCCCAAGCACAGCGTTTCCTGCCACTGTCTTGCACAAGAGGCTTCATTGTTCCATAGAGGCTGGCGGTCACTGGTCAATCACAGGTTCGAGAAGTCGCATGCACCGGGTTTGATACTAGAGAGGGCAGTATTATGGGAACTTTGTTCTTTCCCGGCATAGGAATTACCTCAGGCAGCCTTTCATATTTATGAGCCTTCTTTAAATAGGAGACCTTGGCCAAAGATAGATAGGTTTCTTTTCAGTGGGGGATGCCAGATCAATGCTTTCCCCCGGATTTATTTATTAACCAAAAACCTCGGAGAGTCAAGGAGACTTGAGTGCACCTTACATCGTTTCCTGATCTCGGGGAAGCCTTAGGAAGGTCAGCCTGACTTACTTAAGTGGAGAGAACTCACCCCTGGTGATTCTGATGATTCCGATGCTAGATCTTGAAAGGCTTGGCTCCAGGAGCCTTGTGTTACTCCCTCACTGGTGCTCGAGCCCCCAGTTCAAATCCTAATGTGAGTGGTAAACCTGTGTTTCACTGTGGTAACGTTATAGAAGACCCAATCACAGTGACTATAGGTAACCTGCAGTGTAAGAGAAATGCTTTATTGGGCGGAAGCTTCTGTTCTCAGTTGTGTCGCTCAGAAGTGTGGGTCCCTAGACACCTTATTTTCCTGCTTTGTTTCCTTCGAGCGAAATGGAAGAGGGAAGGGACTAACACTCACTTTGCCCGCGGTGTTCCCAGTTCATTCCGTTCCCTTCTAACACTCAGTGTTAAAAAGGAGGGTCACGTTGTGGGGCTAATGTGCAGCCTCTTTCCATAGAAATGAGAGATGGATGGGCCAGCCCGGCTCACCCTTTGGAGAATCCCCCCTTCCCAGCCGGTTTCTGACCCCTTCATCTTGGGAGGGGGACAGACAGACGTCCAATTTTGATGCTTGACTCCCTTTCTCCAGGCCTTCA
|
CTGATTGCGCCTCGACCCCAATCCCACAGTCACGGTTTACAAGGTAGAAGCTTAGTCAAAATCCGGCTTCAGCAGTCAGGGTTCTTGCAGGAAACTGAAGGTGTTCTTGGGAGGGGATTTGGAAGCGAGTTTGATGAAGGACTCTTTGTTGCGGTGTGGTCATGGTTCAAGGATCCTTCAAAGGGTGCTGCTATTTAGGGACCAGCAACAATGGCAGACCGACAACATGTCTCACCCTAAGAGGCTTGGGGGCGGGGAGAAGTTCTGTTCGTAGAGCCTAGAGGAGTTGTGCAATGGAAAGGGCACCCAGGAAGAATCGTAGCCACAGAGTGAAACCAACACTGGTGGGTGTGGGGCCAGGCCAGGAAGGAGAGGGGAAGAGGCCCCTGCCTCCCTCCTACCCGGTCTGCAGCAGGTTGTCCCTGTGGGTGAAGATCCACTGAGGGGGACCGCCAGCTTCCTGAGCACAGGGCAGGCCAGAGCAGGACAGGCTGGGATGGAAAATGAAGAATCAGTGCTTTAGCCGACAACAAATGGGAGCCGTTTACTGTTTAGTCACTATGATTAGTGTTCACTAGTACTCATTTCTCTTCGTCTAAAAAGTGGCCAACACCATCTCTTTTCCACAAGCACTCGGGAGAACATTCATATTCAATTGCCTTCCTAAGACCCAGACGGGGCAGCGCTCTCCACAGGCCACCAAAAGGTGTTGCCTGTTTGGTTTCATCAGTGATTATCTGTGGCAGCAAGACAGGAAGTTGGAAATCAAGTACCTCAATTAAGTCAAGGCTGACCGTGGAATTAGAGAACAAGTGTTTGTTACCCCGGCCAGGTCACCCTAGGGAAAACAGGCATTCTCCGGGATTGAAATGGTGGTGTTTGTGTGGTAAATAGTTCTCAGTCCAGTTCAAAGCCAGCAGCATTAAGGACACGCCACCGCCACCGGGAGCTGGAGACCAGGCGAAGCTGAGCTCCTCTGTGGTTCACCAACCCCTCAGGCCGCCTAAGTGTCTTCTGCTGTCGCAGCTTTGGGGACAGAGGGGTTTCGGAAACAGGGGCCTCTTGTCTGCACCCTCCCCTCCCACTGACAGGCTGGCAGCCCAGGGCAGCCACCTGAGGAGCGTCCCTGTGTCTCTCCATCTGCAGAGCAGGAAAAGCCTGCGGGTCGGTGGCGCCACGCTGGGGCGAGACCCAGCTTCGGCTCAGGAGATCTCCCACCCAGCCGGACTCCCGCTCTCTGCCCGCGGCCCCCTCCCACACTCCCACCTCGCCCCGCGATCTCACTGCCCCATCGAGGCTTCCGGGCGGAGGAGAAAAGTTTTCCGGCAGGAACCCGGGAAGGAAGCCCTGGGACCCTGGCTGAAACTCCGGGTTTCCCCAGTGCCGAGTCCCTTCCCCGCCGCGCCCAGCGCCTGCGCCCCGGGAGGCGGAAGCAACAGGGGGGTTCCTCCCCGCGGCCTCTGACCTCTGCCCTCTGCCCTCTGCCCCCAGGGTCTGGGGCCCGGGCGGAGGCGCGAGGGGGCAGGGCCGGCGCGCGGGTGCGAGCGCGGGTGTGGGCGCGGGGCCGGCGGGGGCTGCGGCCGCGGGGCGCATGCTCACTTGCGCCGGTGACGTGCGCGCCCGGAGCAGGGGCAGGAGCCAGCGGGGCCCGGAGGCTCCAGAGGGCGGCGGGCAGGGGAGGAGGAGACTCGGGAGGAGCAGAGCGCAGGCTCCGCCGCGGCCGGGGTGCTCCAGCCGAGCCCAACCGAGCGGGCGGACCGACGGGGAGAGAGAAGGCGCCAGAGCGCGCGCGCGCGGCCCCGAGCAGCAGCCTTGCCGCCAGTGGAGCAGCTGCCGACGCGCGGGGCCGCGGACCCAGCATTCGCCGGCCGGGCCGGGCATGAGCGCGGAGGGGCCGCGGCCGCCCCCTGCACCGCCCGGCGCGCCGAGGCCGTGACCGGAGCGGGGGGCGCGGCCGCACTAGTACCCCGGAGCCCATGGGCGCGCCGAGCCGGGCGCGGGGGCGCTGAACGGCGGAGCGGGAGCGGCCGGAGGAGCCATGGACTGCAACCTCGTGCGGACGCTCGTGCACAGATACGTGAGTGCTCCCGGCGCGGGCTGGGGGACCCGGGGACCAGACAGACGCGGGCCGGCCCCGCAGCCCGGACCCTGTGGCCGGTCCAGCCCCGGGGTCCCGGGAGGTCTCCGATGTCTGGGACTCGGACCGCCCCCGGGGACGAGCGGGATGCTGGGGAGGGGCCTCGGAGTTGACACCCTGGGGCTTCCGACGGGGTCTAGGTGGGCACAGCGCGGGGCCCCAGCCCCGGGCGGCCACCTGCTCCCTGGCCGCGGCCGCCTGGCGCCCCCTTCCCGCCCGCAGCGCCCTGGGGGTCCCTCGGAGAGGCTGGCTGGGGTTCGAGCTGTCCCGGCGGACCGGGCGCCCGGAGGGAGCCAACTTCGACCCCGCCGGGGCCCGGGTCTGGGGAGGAACCTTCAGATGCGGCTTCCGCGCAGCCGTGTCTGTAAGATTAAGGGATTGGGAGGAAGCGTTACACTTCTGCAGAAAAAGGTAGCAATTGTGTTTGTTCTTTAACACCCCTGGGGGATTCAGAAGCGGAGTTTGGAATCTTTTTATTTTTTACCTTAAAGTAACCAATTAGATCAGAAGTCCGGGGTCTTCTTGGGTTCCTCTGGAATTTGCCCCTTCAGTGATAAGCAAGTGAAGAGCTCAGGAGGGAAGACTCGGAAGGGGAAAAGTTGATTTTGTTTTACACCAGAGGAGGGGAAACCGGAATCCCTGGCGTTAGGTGTAAAAAGGGGTGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCGGACCGACATGGTGAAACCCCGTCTCTGCTAAAAAATACGAAAATTAGCCGGGCGTGGTGGTAGGCGCCTGGGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGTGGTTGCAATGAGCCGAGATCGAGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCTGTATCAAAAAAAAAAAAAAAAAAGGGTGTGTGTGTGTGTGTGTGTGTGTAGGAGAGGAAGAAAACTGTCCCAAGCACAGCGTTTCCTGCCACTGTCTTGCACAAGAGGCTTCATTGTTCCATAGAGGCTGGCGGTCACTGGTCAATCACAGGTTCGAGAAGTCGCATGCACCGGGTTTGATACTAGAGAGGGCAGTATTATGGGAACTTTGTTCTTTCCCGGCATAGGAATTACCTCAGGCAGCCTTTCATATTTATGAGCCTTCTTTAAATAGGAGACCTTGGCCAAAGATAGATAGGTTTCTTTTCAGTGGGGGATGCCAGATCAATGCTTTCCCCCGGATTTATTTATTAACCAAAAACCTCGGAGAGTCAAGGAGACTTGAGTGCACCTTACATCGTTTCCTGATCTCGGGGAAGCCTTAGGAAGGTCAGCCTGACTTACTTAAGTGGAGAGAACTCACCCCTGGTGATTCTGATGATTCCGATGCTAGATCTTGAAAGGCTTGGCTCCAGGAGCCTTGTGTTACTCCCTCACTGGTGCTCGAGCCCCCAGTTCAAATCCTAATGTGAGTGGTAAACCTGTGTTTCACTGTGGTAACGTTATAGAAGACCCAATCACAGTGACTATAGGTAACCTGCAGTGTAAGAGAAATGCTTTATTGGGCGGAAGCTTCTGTTCTCAGTTGTGTCGCTCAGAAGTGTGGGTCCCTAGACACCTTATTTTCCTGCTTTGTTTCCTTCGAGCGAAATGGAAGAGGGAAGGGACTAACACTCACTTTGCCCGCGGTGTTCCCAGTTCATTCCGTTCCCTTCTAACACTCAGTGTTAAAAAGGAGGGTCACGTTGTGGGGCTAATGTGCAGCCTCTTTCCATAGAAATGAGAGATGGATGGGCCAGCCCGGCTCACCCTTTGGAGAATCCCCCCTTCCCAGCCGGTTTCTGACCCCTTCATCTTGGGAGGGGGACAGACAGACGTCCAATTTTGATGCTTGACTCCCTTTCTCCAGGCCTTCA
|
Task1_train_19423
|
The gene ATP11A (ATPase phospholipid transporting 11A) on Chromosome 13 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Leukodystrophy, hypomyelinating, 24
|
GCTCCCCTTGCCTTTTTTATTACAGTCAACCTGAGATGGGAACTGAAAATATGGCCGTAGTTGTCATGAACTGGGGGGAGCCACTACTCTGTTTTTACCCTCATTAAGGAACTTTATTGTGAAAGGTAAAATCACTTTGTAAATGTGAATTAGAATAGAAAATGGAAATTCCTTATATACTCTCTAAGCCACTGGAAACTTGAGGCAGAGAAGTTTTAAAAGACGCACATGGATTTCCTCTGAAATATTTGTAAACACCAAATTCAGAACATGTTGGTTAGTTTAGGACCATACCAGGCTTTAGTTGTTACATTGAATTGTAAATAACTTATATTCATGAGCCTGGAATTAAAGAAATTCTTGGTATGAGAATTTGACAACTACTTCTGGCTTCCAGGAGCCAGAACCCACCTTCGAATGGGATTTTGAAATAAGCCCCGTTGAAGAGACACACAGATGGCAGAGGCCGCAGCACAGGCTGTGAGACCTTCTTCAGGTTTCGGTAGACTGTCTTCATTACGGCGTAAAAACATGTCAGATGAAATTTCAGAAACTATTTCCAAACTCAGTGAAGGTTCGTGACATCTGGGACGTTGTTGTTTTCAACACAGAAGTTGAATGAAACTGCTACAGAAGCAAAATGAGAAGTGTGGAGAGGAGATGCTGTGGTGGCTGGGCATTCTCCCTCCTTCCCCTCCCTCCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCCTGACCTCCTTCCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCTTCCTCTCCCTCCCCTCCCTGCCTTACTTCCCCTCCCTCCCCTCCTTCCTCTCCTTCCCCTCCTCCTCCTTCCTCTCCTTCCCCTCCTTTTCCTCCTTGCTTCCCTTCCTTCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTGTCCTTCCCCCTGAGGCCTCAAAGCCCCTGTGCCTGAGCTGTGGACAAGAAACACGCCTGCCTCAGAAGCTGCCTGGAGCTGGGTGAAGGCTTCCATTCAGCTCGCTGTCATGCTCTCACTCAGAGGAGAGATCATGCAGAAATTACTGAAGTAAAATGCTAATGTGTTGAGTTAATGATCACAGGTTTACGTTTTATAAAAGACATCTTAATAATCAAACTATTGTTGAGCTACCTTGCGTTTTATCTTGAATTCTCTGGAGTTAGGTAATTTACATACGTGTTTCAGAGTACACACTTTGTTTAAGCTGTCTTAGCTGTCAACAAACACTCTAAATTATGAATTATGAGTTTTATATCTAAAGCTAAACATTTTGTACTGTAAAATCCAGTGCTACTTACTATGCCCTAGAGTAACACTACAAGAGTAAAATCTGATCTCAATGATGGATGTTTGTTTTTCTTTTATGCAGTACACATTTTGGAACTTTATACCCAAGAATTTATTTGAACAATTCAGAAGAGTAGCCAACTTTTATTTCCTTATCATATTTCTGGTGCAGGTAAGGCCGGTCATTGTTTTCCATCTCATCACATATAAATCTAAATAAGTGACATTTTATTCTCAGGTAACTGCCACACGGCTAATGAAAGAGCAAGGACATGGTGCCCCTCACCTATGATTAATTTATTTATTTTCTTAAGGAAGGGCAAAATGTCTTGGTTCTGTGAGATCCACACAAGCTAAACTACACACGACGCTACTTTGGGTTTAAGTTGGTGACAGCCTTTCCTGCCCCTTTCCTTCTAGTACCAGAGGGGAAATCAGAGCTTTGTCATCATTTGGACAAGTTCACTGCCAAGCTATGCATCGTTACACTTAATTTACTCTTCCTAAGTGTGTGTGGATGCTCTAAAGAAAATCCAGGCCGGGCACAGTGGCTCGCCTGTAATCCCAGCACTCTGGGAGGATCACGAGGTCCAGAGATAGGGACCATCCTGGCCAGCATGGCTAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATCACTTGATCCCAGGAGTGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTACACTCCAGCCTGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGAAAGAAAAAGAAAGAAAGAAAATCCAAAGACAGTACACATGAAAAGAGAGTTTAAAGGAAAGAAAAAAAAGAGTGAAAAAATATCTCGGGGTATGAGTTAGGGAGCAATGTGCCAAATGTGTTTTAAGAACAGCACTCTAATTTTTCTAAATCATACAAAATGCTACTGAAGGACTTTAAAAATTTTTCCAACATTAAATTATTCAAATCATGTAATTAAAATGTGACACTGAGGCCGTGGGGTGAATTAATACAAGGCGTGCCCCGACTTCAGACTGGGTCTGCCACTCTCGGTGGTTTCCTTGAGCATGTTCCTTAATTTAAAAAAGGTGCCCTCATTTTAACAGTCAGTGAAATAGGACGATTGACTTGCTATCTCCCGTGGTGGGCAGTCAGGTGCCAGCAAAGGTCTTTAAATAAGTCAAAGCGAATGGGAAGTGCTGGCTCAGGGCAAACTAACCTGCCTGAAGTCACTCATTTGTGTTTTTGAAGATGATTTTACAATTCTCTCTTTCTGCAGTTGATTATTGATACACCCACAAGTCCAGTGACAAGCGGACTTCCACTCTTCTTTGTCATTACTGTGACGGCTATCAAACAGGTAAGCATTTTACAGACGAAAAAGAAGCAATCGTCATCTTCACCATGTGAATTGCCTTTCATTCAAAGCGAGGTGATTGGTTTGTTGTAGCTAGTTCACAGAAAATTCAACCAAGTTCTAGAAATTCATTTTTATAACTGCGTTAGATTGATACTTGAAGCGAAATAAGAGATGTTATATAATTTAGTTGCTAGTCTGGCACCATGCGAGTTCGAGAAGAAATCTGTGGTTTTCACATCCCAAATCACCCAGAGATGATCTGATCAGATGAGTCACTTAACCTTTCTGTATCCTTGACTGTCTTGACCACCACAGAACATGCTGTTTATGGACTCCAGCAAATGGGATGCTGTTTTTTGTTTGTTTGTTTTTGGTTTTGCTTTTTTTTTTCATAGCCCCAGTAAATAAGGCCAGTGACTAACATGGAGAAGAATACATCTCAGTTTTACTCTCTACGTATCCATTTTATCACCCCCAGATTCCCTGTACACGTGTTCAGTCCCTCCCCATTTTCTCCTCCCCGTCCCTGGCAAAGACTCATGTTTCTGTCACCGTAGAGTCGCCTATTCTAAACATTTCGTACTCACGGCTCATAGGCGGTGTTTTGTGACTGGCTCTTTCACTCAGCATGATGTTTTCAAGGTTTCTCTGCATCTGAGCAGGCGTCAGCGCTTCATTCCGTCTGATGAATGAGTCACGGTCCCCTGCACATACCTGGCATTTTGTGTATCACGCGTCCTCTGTGGATGGACATTTGGGGTGTTTCCACTCTTTGGCTGTTCTGAATAATGCTGCTGA
|
GCTCCCCTTGCCTTTTTTATTACAGTCAACCTGAGATGGGAACTGAAAATATGGCCGTAGTTGTCATGAACTGGGGGGAGCCACTACTCTGTTTTTACCCTCATTAAGGAACTTTATTGTGAAAGGTAAAATCACTTTGTAAATGTGAATTAGAATAGAAAATGGAAATTCCTTATATACTCTCTAAGCCACTGGAAACTTGAGGCAGAGAAGTTTTAAAAGACGCACATGGATTTCCTCTGAAATATTTGTAAACACCAAATTCAGAACATGTTGGTTAGTTTAGGACCATACCAGGCTTTAGTTGTTACATTGAATTGTAAATAACTTATATTCATGAGCCTGGAATTAAAGAAATTCTTGGTATGAGAATTTGACAACTACTTCTGGCTTCCAGGAGCCAGAACCCACCTTCGAATGGGATTTTGAAATAAGCCCCGTTGAAGAGACACACAGATGGCAGAGGCCGCAGCACAGGCTGTGAGACCTTCTTCAGGTTTCGGTAGACTGTCTTCATTACGGCGTAAAAACATGTCAGATGAAATTTCAGAAACTATTTCCAAACTCAGTGAAGGTTCGTGACATCTGGGACGTTGTTGTTTTCAACACAGAAGTTGAATGAAACTGCTACAGAAGCAAAATGAGAAGTGTGGAGAGGAGATGCTGTGGTGGCTGGGCATTCTCCCTCCTTCCCCTCCCTCCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCCTGACCTCCTTCCCCTCCTTCTCTCATTCCCCTCCTTCCCTCCTTCCTCTCCCTCCCCTCCCTGCCTTACTTCCCCTCCCTCCCCTCCTTCCTCTCCTTCCCCTCCTCCTCCTTCCTCTCCTTCCCCTCCTTTTCCTCCTTGCTTCCCTTCCTTCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTGTCCTTCCCCCTGAGGCCTCAAAGCCCCTGTGCCTGAGCTGTGGACAAGAAACACGCCTGCCTCAGAAGCTGCCTGGAGCTGGGTGAAGGCTTCCATTCAGCTCGCTGTCATGCTCTCACTCAGAGGAGAGATCATGCAGAAATTACTGAAGTAAAATGCTAATGTGTTGAGTTAATGATCACAGGTTTACGTTTTATAAAAGACATCTTAATAATCAAACTATTGTTGAGCTACCTTGCGTTTTATCTTGAATTCTCTGGAGTTAGGTAATTTACATACGTGTTTCAGAGTACACACTTTGTTTAAGCTGTCTTAGCTGTCAACAAACACTCTAAATTATGAATTATGAGTTTTATATCTAAAGCTAAACATTTTGTACTGTAAAATCCAGTGCTACTTACTATGCCCTAGAGTAACACTACAAGAGTAAAATCTGATCTCAATGATGGATGTTTGTTTTTCTTTTATGCAGTACACATTTTGGAACTTTATACCCAAGAATTTATTTGAACAATTCAGAAGAGTAGCCAACTTTTATTTCCTTATCATATTTCTGGTGGAGGTAAGGCCGGTCATTGTTTTCCATCTCATCACATATAAATCTAAATAAGTGACATTTTATTCTCAGGTAACTGCCACACGGCTAATGAAAGAGCAAGGACATGGTGCCCCTCACCTATGATTAATTTATTTATTTTCTTAAGGAAGGGCAAAATGTCTTGGTTCTGTGAGATCCACACAAGCTAAACTACACACGACGCTACTTTGGGTTTAAGTTGGTGACAGCCTTTCCTGCCCCTTTCCTTCTAGTACCAGAGGGGAAATCAGAGCTTTGTCATCATTTGGACAAGTTCACTGCCAAGCTATGCATCGTTACACTTAATTTACTCTTCCTAAGTGTGTGTGGATGCTCTAAAGAAAATCCAGGCCGGGCACAGTGGCTCGCCTGTAATCCCAGCACTCTGGGAGGATCACGAGGTCCAGAGATAGGGACCATCCTGGCCAGCATGGCTAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATCACTTGATCCCAGGAGTGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTACACTCCAGCCTGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGAGAAAGAAAAAGAAAGAAAGAAAATCCAAAGACAGTACACATGAAAAGAGAGTTTAAAGGAAAGAAAAAAAAGAGTGAAAAAATATCTCGGGGTATGAGTTAGGGAGCAATGTGCCAAATGTGTTTTAAGAACAGCACTCTAATTTTTCTAAATCATACAAAATGCTACTGAAGGACTTTAAAAATTTTTCCAACATTAAATTATTCAAATCATGTAATTAAAATGTGACACTGAGGCCGTGGGGTGAATTAATACAAGGCGTGCCCCGACTTCAGACTGGGTCTGCCACTCTCGGTGGTTTCCTTGAGCATGTTCCTTAATTTAAAAAAGGTGCCCTCATTTTAACAGTCAGTGAAATAGGACGATTGACTTGCTATCTCCCGTGGTGGGCAGTCAGGTGCCAGCAAAGGTCTTTAAATAAGTCAAAGCGAATGGGAAGTGCTGGCTCAGGGCAAACTAACCTGCCTGAAGTCACTCATTTGTGTTTTTGAAGATGATTTTACAATTCTCTCTTTCTGCAGTTGATTATTGATACACCCACAAGTCCAGTGACAAGCGGACTTCCACTCTTCTTTGTCATTACTGTGACGGCTATCAAACAGGTAAGCATTTTACAGACGAAAAAGAAGCAATCGTCATCTTCACCATGTGAATTGCCTTTCATTCAAAGCGAGGTGATTGGTTTGTTGTAGCTAGTTCACAGAAAATTCAACCAAGTTCTAGAAATTCATTTTTATAACTGCGTTAGATTGATACTTGAAGCGAAATAAGAGATGTTATATAATTTAGTTGCTAGTCTGGCACCATGCGAGTTCGAGAAGAAATCTGTGGTTTTCACATCCCAAATCACCCAGAGATGATCTGATCAGATGAGTCACTTAACCTTTCTGTATCCTTGACTGTCTTGACCACCACAGAACATGCTGTTTATGGACTCCAGCAAATGGGATGCTGTTTTTTGTTTGTTTGTTTTTGGTTTTGCTTTTTTTTTTCATAGCCCCAGTAAATAAGGCCAGTGACTAACATGGAGAAGAATACATCTCAGTTTTACTCTCTACGTATCCATTTTATCACCCCCAGATTCCCTGTACACGTGTTCAGTCCCTCCCCATTTTCTCCTCCCCGTCCCTGGCAAAGACTCATGTTTCTGTCACCGTAGAGTCGCCTATTCTAAACATTTCGTACTCACGGCTCATAGGCGGTGTTTTGTGACTGGCTCTTTCACTCAGCATGATGTTTTCAAGGTTTCTCTGCATCTGAGCAGGCGTCAGCGCTTCATTCCGTCTGATGAATGAGTCACGGTCCCCTGCACATACCTGGCATTTTGTGTATCACGCGTCCTCTGTGGATGGACATTTGGGGTGTTTCCACTCTTTGGCTGTTCTGAATAATGCTGCTGA
|
Task1_train_19424
|
A mutation found in F7 (coagulation factor VII) on Chromosome 13 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Factor VII deficiency
|
GTCCAGCCCCAGGCAAGGTTCCAGGCATGCCCCTGGGACAGACGTGGGAGGGAGACCAGCAGGCAGGTCCCCCTCAGGGAGGTATGGAGCGGGTCCCCGGGGCCAGGTGGAGCCCCTCACACCTGTGTCCTCAAGGACCCACACCAGGACAATGGCCATAGGCGGGCACCTGCAGCCGCCCTGGCCAGCAGTGAGACGGGCAGAGAGCCCAGCCAGATAGCCCGGTTCCTGCCCCCTCCCGCCTGCCCGCACAGAGAGGGCTGCATGCAGGTGAGGGTCCATCACCTGAAGAGCTTCACCAGCCCCGAGGCCATGAGCCACTGAATCTCTCAGGGGGTTTTGGCGCTTGAGGTTCCCCAGGTCATTCTGCTGCCCAGAGAGGGTTGAGGACCTCTGACCTGGAGCCCCAAAGGGGAAGGGTACCCTAAGACCAGCCAGCCATCTACTCTCAGGTGGGAAAGGGGTAGGGTTTAGATATGGCCCCCTCCCCTCCACGTCCTGAAATTACCTTGGGCTGTGCTGGCCGAGAGCCGCGGGGACCAGATTTGAGCTGGACGTGAGCTTTATTCCAGACGGAGCAGCTACTTTGTAAGCGATCTCCCTGGGATCGATATCATGGAGGGGCACAGATGGGCTTCAGCTGTGCTGGGTGGAAGAGAAAACATGCCCTGTCGGCCCCTCAGCAAGTGCTCTGCTCTCTGGACTGAGATGCAGGTCAGCAGCAAGCAGGGAGGCTTTGGGGGTGCTGGGGGCTGCTTTGAAAGGCACCCCTGAGCTAAGACTTGGCTGTTGGGAAGGAATCACCTCCCTCCCTCCAGCCGTAAAAAGAACTGGACATCAGCTTCCAAAGAAGTCATCAGCAATGCAACTGTTCACATGGAGGATACTCCCTGCTTGAGGGGTCAGACAGGCCTGCTGGGCAACCCAGGAGGCTTGGATGACCGTCTACCCCAGTGTTTTTGGGATGGAAAGTTCCACATTCTGAGAACCCTCAGTCCCTGGGCAACCTGGGGTGGTTAGTCACCACAGCTTGTGGCTTGGGCCCATGACAGCAGGTAGAAATGACGTGGACTGCCGCCAGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGTCAACACGGTGAAACCCCATCTCTGCTAAAAAAAAAAAATATATATATATAAATTAGCCAGGCATGGTGACGTGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGATTGCACCAGTGCACTCTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAACAAACAAAACAAAACAAACAAAAAGACGTAAGATGTGGACCGCTGGAGAATGGGGGTGCTGCCTGCAGTCAAAACGGAGTGGGGGTGCCCAGCTCAGGGCCAGAATGATCCTATTCCCGGCACTTCTCAGTGAGGCTCTGTGGCTCACCTAAGAAACCAGCCTCCCTTGCAGGCAACGGCCTAGCTGGCCTGGTCTGGAGGCTCTCTTCAAATATTTACATCCACACCCAAGATACAGTCTTGAGATTTGACTCGCATGATTGCTATGGGACAAGTTTTCATCTGCAGTTTAAATCTGTTTCCCAACTTACATTAGGGGTTTGGAATTCTAGATCGTATTTGAAGTGTTGGTGCCACACACACCTTAACACCTGCACGCTGGCAACAAAACCGTCCGCTCTGCAGCACAGCTGGGGTCACCTGACCTTTCTCCTGTCCCCCCCACTTGAGCTCAGTGGCTGGGCAGCAGGGGATGCATGGCCACTGGCCGGCCAGGTGCAGCTCTCAGCTGGGGTGTTCAGAGGACGCCTGTGTCCTCCCCTCCCCCATCCCTCTGTCACCCTTGGAGGCAGAGAACTTTGCCCGTCAGTCCCATGGGGAATGTCAACAGGCAGGGGCAGCACTGCAGAGATTTCATCATGGTCTCCCAGGCCCTCAGGCTCCTCTGCCTTCTGCTTGGGCTTCAGGGCTGCCTGGCTGCAGGTGCGTCCGGGGAGGTTTTCTCCATAAACTTGGTGGAAGGGCAGTGGGCAAATCCAGGAGCCAGCCCGGGCTTCCCAAACCCCGCCCTTGCTCCGGACACCCCCATCCACCAGGAGGGTTTTCTGGCGGCTCCTGTTCAATTTCTTTCCTTCTAGAAACCAGCATCCAGGCACAGGAGGGGAGGCCCTTCTTGGTGGCCCAGGCTTTGGCGGGATTATTTTTCAAAGAACTTTAGGAGTGGGTGGTGCTTTCCTGGCCCCCATGGGCCCCTGCCTGTGAGGTCGGACAAGCGCAGGGAGTCTGGGGCCTCTCAGAGTGCAGGAAGTGCGCACAGGGTGCTCCCAGGCTGGGGAGCACAGGTAGGGGACGGTGCGTGGGGGATGGCGCCTGGGGCATGGGGGATGGGGTGTGGGAAACGGCATGTGGGGCGTAGGGGATGGGGTGTGGAGGATCGGGGGTGGGGATGGCGTGTGGGGTGTGGGGGATGGGCCGTGGGGGGGTGGGGCCTGGGAAACAGCATGTGGGGCATGGGGTGTGGGGGTGAGGTGTGGGAAAGTGTGTGGGGTGTGGGGGATGGGGCATGGAAAGGGCGTGTGGGGTGCAGGGGATGGGGCATGGAGGTGTGGGGGATGGGGTGTGTGGGGTGTCGGGGATGGGGCATGTGGGGTGTGGGGGATGGGGCATGGAAAGGGCGTGTGGGGTGCAGAGGATGGGGCATGGGGGGGTGGGGATGGCGAGTGGGGCTGGGGCCTGGGAATGGTGAGTGGGGCATGGGGATGGCGAGTAGGGGGTGTGGCGTGAGGATGGCTAGTGGGGCGTGGGGATGGCGTGTGGGGATGGCGAGTGGGGGGTGGGCTGTGAGGGACAGTGCCTGGGATGTGGGGCTGCAGCCCTAGCTCACAGCATGGCCTTATGACCCCGGCCACCTTCCTGCCCCAGGCGGGGTCGCTAAGGCCTCAGGAGGAGAAACACGGGACATGCCGTGGAAGCCGGGGCCTCACAGAGGTGAGCAGGGACTGCCACTGGTTTTGTCCTGGGGCCCAGTGGGGGCCAACATCACCTCCTTCCCCTCCCATGGCAAAGAGCCAGCCCGCGGGGTGGCTACTGCAGTGCCCCCCAAGGAGGGTGTTCCCTGCTCGAGAGGAAGTGACCGCTCCAGCTTGGCCTTCCCTGGGACTGGGGTGCAGGCGATTTTATCTTCTTTGCTCCATTCTGTTCCTTCCAGATAATCGTGTGTTCTTCATCAGGTTTTCCTCAGTTCTTGAGAGCTTTTCTGATGCAAATCTGCTTTCACCCCAGGGCGGTCACCGGCTCTGCTCACACCAGCCTCCAAGGGTGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCAGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGCGTGTCCCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTTCCGGAGGCGAGGGTATCCCAGAAGTGTGAGTGTCCCAGGGGCGTGG
|
GTCCAGCCCCAGGCAAGGTTCCAGGCATGCCCCTGGGACAGACGTGGGAGGGAGACCAGCAGGCAGGTCCCCCTCAGGGAGGTATGGAGCGGGTCCCCGGGGCCAGGTGGAGCCCCTCACACCTGTGTCCTCAAGGACCCACACCAGGACAATGGCCATAGGCGGGCACCTGCAGCCGCCCTGGCCAGCAGTGAGACGGGCAGAGAGCCCAGCCAGATAGCCCGGTTCCTGCCCCCTCCCGCCTGCCCGCACAGAGAGGGCTGCATGCAGGTGAGGGTCCATCACCTGAAGAGCTTCACCAGCCCCGAGGCCATGAGCCACTGAATCTCTCAGGGGGTTTTGGCGCTTGAGGTTCCCCAGGTCATTCTGCTGCCCAGAGAGGGTTGAGGACCTCTGACCTGGAGCCCCAAAGGGGAAGGGTACCCTAAGACCAGCCAGCCATCTACTCTCAGGTGGGAAAGGGGTAGGGTTTAGATATGGCCCCCTCCCCTCCACGTCCTGAAATTACCTTGGGCTGTGCTGGCCGAGAGCCGCGGGGACCAGATTTGAGCTGGACGTGAGCTTTATTCCAGACGGAGCAGCTACTTTGTAAGCGATCTCCCTGGGATCGATATCATGGAGGGGCACAGATGGGCTTCAGCTGTGCTGGGTGGAAGAGAAAACATGCCCTGTCGGCCCCTCAGCAAGTGCTCTGCTCTCTGGACTGAGATGCAGGTCAGCAGCAAGCAGGGAGGCTTTGGGGGTGCTGGGGGCTGCTTTGAAAGGCACCCCTGAGCTAAGACTTGGCTGTTGGGAAGGAATCACCTCCCTCCCTCCAGCCGTAAAAAGAACTGGACATCAGCTTCCAAAGAAGTCATCAGCAATGCAACTGTTCACATGGAGGATACTCCCTGCTTGAGGGGTCAGACAGGCCTGCTGGGCAACCCAGGAGGCTTGGATGACCGTCTACCCCAGTGTTTTTGGGATGGAAAGTTCCACATTCTGAGAACCCTCAGTCCCTGGGCAACCTGGGGTGGTTAGTCACCACAGCTTGTGGCTTGGGCCCATGACAGCAGGTAGAAATGACGTGGACTGCCGCCAGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCATGTGGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGTCAACACGGTGAAACCCCATCTCTGCTAAAAAAAAAAAATATATATATATAAATTAGCCAGGCATGGTGACGTGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGATTGCACCAGTGCACTCTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAACAAACAAAACAAAACAAACAAAAAGACGTAAGATGTGGACCGCTGGAGAATGGGGGTGCTGCCTGCAGTCAAAACGGAGTGGGGGTGCCCAGCTCAGGGCCAGAATGATCCTATTCCCGGCACTTCTCAGTGAGGCTCTGTGGCTCACCTAAGAAACCAGCCTCCCTTGCAGGCAACGGCCTAGCTGGCCTGGTCTGGAGGCTCTCTTCAAATATTTACATCCACACCCAAGATACAGTCTTGAGATTTGACTCGCATGATTGCTATGGGACAAGTTTTCATCTGCAGTTTAAATCTGTTTCCCAACTTACATTAGGGGTTTGGAATTCTAGATCGTATTTGAAGTGTTGGTGCCACACACACCTTAACACCTGCACGCTGGCAACAAAACCGTCCGCTCTGCAGCACAGCTGGGGTCACCTGACCTTTCTCCTGTCCCCCCCACTTGAGCTCAGTGGCTGGGCAGCAGGGGATGCATGGCCACTGGCCGGCCAGGTGCAGCTCTCAGCTGGGGTGTTCAGAGGACGCCTGTGTCCTCCCCTCCCCCATCCCTCTGTCACCCTTGGAGGCAGAGAACTTTGCCCGTCAGTCCCATGGGGAATGTCAACAGGCAGGGGCAGCACTGCAGAGATTTCATCATGGTCTCCCAGGCCCTCAGGCTCCTCTGCCTTCTGCCTGGGCTTCAGGGCTGCCTGGCTGCAGGTGCGTCCGGGGAGGTTTTCTCCATAAACTTGGTGGAAGGGCAGTGGGCAAATCCAGGAGCCAGCCCGGGCTTCCCAAACCCCGCCCTTGCTCCGGACACCCCCATCCACCAGGAGGGTTTTCTGGCGGCTCCTGTTCAATTTCTTTCCTTCTAGAAACCAGCATCCAGGCACAGGAGGGGAGGCCCTTCTTGGTGGCCCAGGCTTTGGCGGGATTATTTTTCAAAGAACTTTAGGAGTGGGTGGTGCTTTCCTGGCCCCCATGGGCCCCTGCCTGTGAGGTCGGACAAGCGCAGGGAGTCTGGGGCCTCTCAGAGTGCAGGAAGTGCGCACAGGGTGCTCCCAGGCTGGGGAGCACAGGTAGGGGACGGTGCGTGGGGGATGGCGCCTGGGGCATGGGGGATGGGGTGTGGGAAACGGCATGTGGGGCGTAGGGGATGGGGTGTGGAGGATCGGGGGTGGGGATGGCGTGTGGGGTGTGGGGGATGGGCCGTGGGGGGGTGGGGCCTGGGAAACAGCATGTGGGGCATGGGGTGTGGGGGTGAGGTGTGGGAAAGTGTGTGGGGTGTGGGGGATGGGGCATGGAAAGGGCGTGTGGGGTGCAGGGGATGGGGCATGGAGGTGTGGGGGATGGGGTGTGTGGGGTGTCGGGGATGGGGCATGTGGGGTGTGGGGGATGGGGCATGGAAAGGGCGTGTGGGGTGCAGAGGATGGGGCATGGGGGGGTGGGGATGGCGAGTGGGGCTGGGGCCTGGGAATGGTGAGTGGGGCATGGGGATGGCGAGTAGGGGGTGTGGCGTGAGGATGGCTAGTGGGGCGTGGGGATGGCGTGTGGGGATGGCGAGTGGGGGGTGGGCTGTGAGGGACAGTGCCTGGGATGTGGGGCTGCAGCCCTAGCTCACAGCATGGCCTTATGACCCCGGCCACCTTCCTGCCCCAGGCGGGGTCGCTAAGGCCTCAGGAGGAGAAACACGGGACATGCCGTGGAAGCCGGGGCCTCACAGAGGTGAGCAGGGACTGCCACTGGTTTTGTCCTGGGGCCCAGTGGGGGCCAACATCACCTCCTTCCCCTCCCATGGCAAAGAGCCAGCCCGCGGGGTGGCTACTGCAGTGCCCCCCAAGGAGGGTGTTCCCTGCTCGAGAGGAAGTGACCGCTCCAGCTTGGCCTTCCCTGGGACTGGGGTGCAGGCGATTTTATCTTCTTTGCTCCATTCTGTTCCTTCCAGATAATCGTGTGTTCTTCATCAGGTTTTCCTCAGTTCTTGAGAGCTTTTCTGATGCAAATCTGCTTTCACCCCAGGGCGGTCACCGGCTCTGCTCACACCAGCCTCCAAGGGTGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCAGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGCGTGTCCCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGGGCGTGGGTGTTCCGGAGGCGAGGGTATCCCAGAAGTGTGAGTGTCCCAGGGGCGTGG
|
Task1_train_19425
|
Here’s a variant in F7 (coagulation factor VII) located on Chromosome 13. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Factor VII deficiency
|
GTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTATCCCAGAAGTGTGAGTGTCCCAGGGGCGTGGGTGTCCGGGGGGCGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTCGTGGGTGTCCCGGGAGCGTGGGTGTCGGGGACTGCAGGGACATGGGCCTCCCCTCCCACTCCTGCCGCCCAGGGCACCTCCTGTGAGGACTCGGAGTCCGTGAGTTCCCACCTCCTTGAGCCCGATTCTTTGGTGTCCCCGCCTGCATCCTCAGCCTCCTTCCAAACCAGACCAGTTCTCTAGGGGCGTCGACGTGTGAAACTGATTTTAAAGAAAACAGGCAGTGGCCTTTCTCTCGGCCCCACGTGGCCCAGTAGCGCTCACCTTCCGTCCCTTCTTCCGCGCTCAGTAACCAATTTAGGCCGCTCCTGCAGAACTCGGGCTCCTGCCCACCGGCCCACAGCGTCCACCTGAGGCCTCGTCCTCCCAGCAAAGGTCGTCCCTCCGGAACGCGCCTCCTGCGGCCTCTCCAGAGCCCCTCCCGCGCGTCCTCTCAGCCCCGCTCGCCTCCTCCCGGGGCCTCCCTCTCCCGCCTGCCCCCAGGCCCGTCTCCCCTCGCGGGCTGAGGCAGGTTCGGGCAGCACGGCCGCCCCGGGGCGGGGGTCACTCTCCACCACCGCGTGGTGCCCACAGCTCACGGCGCTCCCGGGTGACGGTCCCCTCGGCTGTAGGGCGTCCTGAAGAGCGGCCTGCTCGGAGCTGAGCGCACGGGGTTGCCTCGCCCTGGGCGTCTCTGGCCCTCACCAGCCCCGTCTTCCCATGGGCAAAACGGCGGTCCTGTTTGTCCACAAGTAACCGTCGGGGTTACGGAGGGGCCAGGAGCTGCGGCGGGGGGCTGTGCTCTCAGGACCGGCCCCAGGAGGATCCGCGCGAGGTCTGGAGCTCTCAGGGGTCGCGGGGGACAGAGGGGCCCCAAGCGGAGGCGGGGAAGGCGGCAGAAGCCCAGGACCGCCAAGAGCTGGCGAGGAAGCCCGGGGCTCGCTGTCGGGGGAGCCGGGCAGGGGCCGCGCCTCGGACCAGGACGGAGGCCTGGGGAAGGCGGATCTGGCCGCCGGAGACGCGGTGCGGGTGGAGACGAGGGATTTGGATTTCCGCGGGCGGCTGTACGGATTTCCACGCGCGGTTCACGTGGGCCCCAGGGGGTTGCCCGGCACCCGGGGCCGCGCCGCCTTCTCCTCGCCGGCATCGACCCGCAGCCTCACGTTTACGCGGCGGCGCCCGCAGCCCCCTTCGGCCCGGCTTCCGCGCGTGCCCCCGAGCGCGCCCTCGGGATCAGCCCCCGGAAGCAGAGAGGCCAGGCCGGGAAGGATGGGCGACGGGGGTGGCTGACCCGGGAGCACGGCAGGGAGGACACCCAGCCAGGCCCGCGAGCAGCGCCGCTCCCCTCCTCCAGGACGGGCGGGAACCTGCGATGCCCCCGCCGCGTGGGCCGTGGGGCGGTCTCCGAGGCACTGGGCGGGGCACGCGGTGGGCGCTTCACGGAACTCGCATTTCCCAGTCTTCGTAACCCAGGAGGAAGCCCACGGCGTCCTGCACCGGCGCCGGCGCGCCAACGCGTTCCTGGAGGAGCTGCGGCCGGGCTCCCTGGAGAGGGAGTGCAAGGAGGAGCAGTGCTCCTTCGAGGAGGCCCGGGAGATCTTCAAGGACGCGGAGAGGACGGTGAGCCCAGCCTCGGGGCGCCCCGCGCCGCGGACACTGCAGGCGGCGGTGAACCAGGCCGCGTGGGGCCGCCTGCGTCTCTTTGGCTGCGGCTGTGGGCGGCGAACACGCAGCGGCGCCCGCGCGGCGCTTTCTGCGGGGGTCGCTTTCCGCCCGGGGTGACTCCGCTTTCCTGGGCGATGCCCCCCACCCCCAGGCACGCGCTCTCCCCGTGCGGCCGCACCGCGCATGCCGGTTTTCACATCAGAAAATACGATTTGCAAAGCACACTTAGGGTGTCCCCCTTAACTTCCCAAGGGAGTCCCCCCAGTCCCCGAAGGGTCCAGGGCAGCCTGCGCATCGCAGACGCGCGCGGCTCGCAGAAGGGACGTGGTGAGAAGCTGGCCCACAGCATGCCACCAGCGGCACCTCCTCAGGGCACGTGTCGGGGAGAAACAACACTTAGGGACCTGGGACTTTCTCCAGCTCACGCTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACTCAGGGCGCACTTCACACTCACGGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACAGGACACCTCACACTCAGGGTGCACTTCAAACCCACAGGTCATTTCACCTCACACTCACAGGACACCTCACACAAGATACCACACGGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCACCATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAGGATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACACAGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACAACTCACAGAGGTCACCTCACACAGGACACCTCACAAAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGG
|
GTCCCGGGAGTGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGCGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGCGTGGGTGTCCCAGGGGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGAGTGGATGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTATCCCAGAAGTGTGAGTGTCCCAGGGGCGTGGGTGTCCGGGGGGCGTGGGTGTCCCGGGGGTGTGGGTGTCCCGGGGGTCGTGGGTGTCCCGGGAGCGTGGGTGTCGGGGACTGCAGGGACATGGGCCTCCCCTCCCACTCCTGCCGCCCAGGGCACCTCCTGTGAGGACTCGGAGTCCGTGAGTTCCCACCTCCTTGAGCCCGATTCTTTGGTGTCCCCGCCTGCATCCTCAGCCTCCTTCCAAACCAGACCAGTTCTCTAGGGGCGTCGACGTGTGAAACTGATTTTAAAGAAAACAGGCAGTGGCCTTTCTCTCGGCCCCACGTGGCCCAGTAGCGCTCACCTTCCGTCCCTTCTTCCGCGCTCAGTAACCAATTTAGGCCGCTCCTGCAGAACTCGGGCTCCTGCCCACCGGCCCACAGCGTCCACCTGAGGCCTCGTCCTCCCAGCAAAGGTCGTCCCTCCGGAACGCGCCTCCTGCGGCCTCTCCAGAGCCCCTCCCGCGCGTCCTCTCAGCCCCGCTCGCCTCCTCCCGGGGCCTCCCTCTCCCGCCTGCCCCCAGGCCCGTCTCCCCTCGCGGGCTGAGGCAGGTTCGGGCAGCACGGCCGCCCCGGGGCGGGGGTCACTCTCCACCACCGCGTGGTGCCCACAGCTCACGGCGCTCCCGGGTGACGGTCCCCTCGGCTGTAGGGCGTCCTGAAGAGCGGCCTGCTCGGAGCTGAGCGCACGGGGTTGCCTCGCCCTGGGCGTCTCTGGCCCTCACCAGCCCCGTCTTCCCATGGGCAAAACGGCGGTCCTGTTTGTCCACAAGTAACCGTCGGGGTTACGGAGGGGCCAGGAGCTGCGGCGGGGGGCTGTGCTCTCAGGACCGGCCCCAGGAGGATCCGCGCGAGGTCTGGAGCTCTCAGGGGTCGCGGGGGACAGAGGGGCCCCAAGCGGAGGCGGGGAAGGCGGCAGAAGCCCAGGACCGCCAAGAGCTGGCGAGGAAGCCCGGGGCTCGCTGTCGGGGGAGCCGGGCAGGGGCCGCGCCTCGGACCAGGACGGAGGCCTGGGGAAGGCGGATCTGGCCGCCGGAGACGCGGTGCGGGTGGAGACGAGGGATTTGGATTTCCGCGGGCGGCTGTACGGATTTCCACGCGCGGTTCACGTGGGCCCCAGGGGGTTGCCCGGCACCCGGGGCCGCGCCGCCTTCTCCTCGCCGGCATCGACCCGCAGCCTCACGTTTACGCGGCGGCGCCCGCAGCCCCCTTCGGCCCGGCTTCCGCGCGTGCCCCCGAGCGCGCCCTCGGGATCAGCCCCCGGAAGCAGAGAGGCCAGGCCGGGAAGGATGGGCGACGGGGGTGGCTGACCCGGGAGCACGGCAGGGAGGACACCCAGCCAGGCCCGCGAGCAGCGCCGCTCCCCTCCTCCAGGACGGGCGGGAACCTGCGATGCCCCCGCCGCGTGGGCCGTGGGGCGGTCTCCGAGGCACTGGGCGGGGCACGCGGTGGGCGCTTCACGGAACTCGCATTTCCCAGTCTTCGTAACCCAGGAGGAAGCCCACGGCGTCCTGCACCGGCGCCGGCGCGCCAACGCGTTCCTGGAGGAGCTGCGGCCGGGCTCCCTGGAGAGGGAGTGCAAGGAGGAGCAGTGCTCCTTCAAGGAGGCCCGGGAGATCTTCAAGGACGCGGAGAGGACGGTGAGCCCAGCCTCGGGGCGCCCCGCGCCGCGGACACTGCAGGCGGCGGTGAACCAGGCCGCGTGGGGCCGCCTGCGTCTCTTTGGCTGCGGCTGTGGGCGGCGAACACGCAGCGGCGCCCGCGCGGCGCTTTCTGCGGGGGTCGCTTTCCGCCCGGGGTGACTCCGCTTTCCTGGGCGATGCCCCCCACCCCCAGGCACGCGCTCTCCCCGTGCGGCCGCACCGCGCATGCCGGTTTTCACATCAGAAAATACGATTTGCAAAGCACACTTAGGGTGTCCCCCTTAACTTCCCAAGGGAGTCCCCCCAGTCCCCGAAGGGTCCAGGGCAGCCTGCGCATCGCAGACGCGCGCGGCTCGCAGAAGGGACGTGGTGAGAAGCTGGCCCACAGCATGCCACCAGCGGCACCTCCTCAGGGCACGTGTCGGGGAGAAACAACACTTAGGGACCTGGGACTTTCTCCAGCTCACGCTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACACTCACAGGGCACACTTCACACTCACGGGTCACCTCACACTCCAAGATCACCTCAAAGAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACAAGACACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACTCAGGGCGCACTTCACACTCACGGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACAGGACACCTCACACTCAGGGTGCACTTCAAACCCACAGGTCATTTCACCTCACACTCACAGGACACCTCACACAAGATACCACACGGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCACCATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAGGATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACACAGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACAACTCACAGAGGTCACCTCACACAGGACACCTCACAAAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGG
|
Task1_train_19426
|
Gene F7 (coagulation factor VII), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Factor VII deficiency
|
ACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACTCAGGGCGCACTTCACACTCACGGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACAGGACACCTCACACTCAGGGTGCACTTCAAACCCACAGGTCATTTCACCTCACACTCACAGGACACCTCACACAAGATACCACACGGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCACCATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAGGATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACACAGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACAACTCACAGAGGTCACCTCACACAGGACACCTCACAAAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCACCATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAGGATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACACAGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTTACACTCATCTCACACTCACAGGTCGCCACACCTCACACTCACAGGATGCCTCACACTCACAGAACCACATCTCATATGCACAAGACACCTCACACTCAGGACACCTCATGCTCAAAGAAGCCTCACACTCACAGGAGGTCCAGCTGTCTGAGGCAAAGGCTAACATGACCCTTTCCAGACAAATTGAGGATGGTCATGCCTAGCATTTTTATACACCTAGTTTTGAAAGCATTTCTCATCTGTTGTATTCTCACAGCACCCCGTGAGTTTAAGTTCAGGTGGCCAACAGTTTCTTCAGCAATCACTTTTTTCTGTGGAGTGCTTTTGCTGTTTGTGGAATATTTTGCATCTGCTACTGCACCCTCTCCCCGTATGTGTGGCCACCCTGTCAGAGGTGGAGCTGTGGCTCAGAGCCTGTGTACCTCGTCCCAGGTCCACAGCTCAGCGACAGAAGAGTCAGGGTTGAACCTCGGGTGTTCTGACTTGGGAGCAGGAAATGTGTGGTCACCCATAGTTCCAGATGTCCTGGGGAGGGGCCAAGATTAGAAGAAACCTACCTCAGCTCCAGAGGAAAGTCTGGCTTCCTGAGCCCACCCCGCCAGACCCAGGTCCAAGTCCCCCAACCCCAGTTCATGGTGTGTCCAGTGCTTACCGTTGGGTGCTCTGGTGAAGGTGCATCTCACGAGGCTTGCTCTCTTGTTCCTTCAGAAGCTGTTCTGGATTTCTTACAGTGGTGAGTGGATGATCACCACCAGTCCTGCCTGCAACCCTTCTCAGCTTACTGACACCAGCCCACTCCACAGATGGGGACCAGTGTGCCTCAAGTCCATGCCAGAATGGGGGCTCCTGCAAGGACCAGCTCCAGTCCTATATCTGCTTCTGCCTCCCTGCCTTCGAGGGCCGGAACTGTGAGACGCGTAAGGCCCCACTTTGGGTCCCATATTTGCAGAGGGCCCTGGGGAGCTGGTGGAGGTGGCCTGGCCAACCGGGCTGCAGGGTGCACAACCTGGTGGGGTGTGTAGGCCGGGCATTCAGGGCTCAGCCCCAGTTGGAAATTGGTCTAGGTGACCTTGAAATCCCTTCCAGTCTGAGGTCTTTGACAGGGACCCAAGGTTCTGATTATCAGACTCAGTGGCCCCTTGGGCTCCCGGCCCTGGGCAATTCTCAGCCCTCGAGATGGCCCAGCTGAGAGTCCCTGTGTCCCTGTCCCACTTCCACATCCCACCACGCAGGACCGCTTGGTAAACTTCCCCTTCTCTACTTTCCATTACAAAGGTTTGAGGGGTTTGTTTTTTTTTTAACCATCTGAATATTAAATTATCACAAAGTTTGAGGCCCCCAACCTCCCTTGGGTTCAGTAATTCACTAGAAGGACTCATAGAATCCACTGAAGTGGATACACTCACAGGTACCGTTTATTACAGCAAAGGATGCAGGCTTAAGTCTGCAGAGGGACCAGGCACAAGCTTCCCCTTGTCCTCTCCCTGTGGGGTCATGTGGACAGTCCTTAATTCTCCCAGAATGACGTGTGACGAGACGTGGGAAGTACTGCCAACTTGGGAAGCTCTACGAGCCCCGGTGTCCAGAGGTTTTATCAGGGCTCAATCACATAGACCCAGCTGACCACCCGCATGGCTGACCTCAGTCTCAGCCCCTCCAGAGGCTACGCCGATAGTGCGGCCCAAGGCCCCACCATACATCACATTGTCAGCTAGACCATCCAGCATGGCTCAAGGCCCAGGTAAACACCAACATTCCCTCAGGCAAGACCTTCCAAGGGCTTAGCGGTCATTTCCCAGGAGCCAAGGCAAAGGCTACCCTTTCTCTGGCACAGCAGTTCATCCTTGACCACCCAAGACCACATTCTTACACTGAATGAGCTCTCCTGTGCAGCAGCCATTTTCTTCTCTAAGCAGAAGAGAGCCCAGCAAGCTGGAGGAGGCTGAAGAGAGAGGCTTCCTGCTGGTCATCTGGGTCCAGAATGCCTGGAGATCTCTGCTCAGCCCTGGTGCCCAGCAGCCCTGGTGTGCATCCTGCAGGGCAGGCCTTCCCGCCGGAGTCCTGGACTTGCTCAGGGCCACTCCCCTTGCCCATGTCAACCAAAGTCAGGCTGCCGGTTCTGCTTCTTCTGTCTGAGCCCATGACCAGTGCTGGGACTAACTGTCCCCAGGCGGGCTCACGGTGGTACGAGGCCAGCTTGGAGAACTGTCTCAGCTCTCTGGTCCTCTCGTCAGTTGGGTCTCTGATTGGAAAGTCCCTTGGACACTTTTACCATCCCCATTGGACTTTCACTTTCCCCCAGGCTCCCATCAGCTGCTCGGAAGAGTGGTCACCCTGGAGGCCACTGCCCACCAGCCAGGCACCCCCCAAATGCAACCGCAGCCAGCACTGCCAGCCACTGGCAAGGCTGTTCAGACATGTGGCTCCTCTGATCCACGCCTTGTCCTTTGGATCAGTCCACGGAGCAGGTGGTGCCAAGCTCAGGCTCTGTCACCCACAGCTCAGTGCCACCTTCCAGGCAGAACACCACTGCTGACCCAGGGCATGGCCACCCCGGGGGCTGGCTCTCGCTGACCCCCAGAAGCCCCTCTCAGGGTGTCCCCTTCCTGTCCCCAGACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAGTACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTGCTGGCAGACGGGGTGTCCTGCACACCCACAGGTGACCAGGCTTCATGTCCCAGTCCCAGATGACACCAGTCCCTGTCCCACTACGGATTATCTTACTGGACAAAAGACGGGTGGGAGTGGCTTCACATCTACTGAGCACTAACTATGCACTGACCAA
|
ACACCCACAGGACACCTCACACAGGGCACACTTCACACTCACGGGTCACCTCACACTCACAGGACACCTCACACTCAGGGCGCACTTCACACTCACGGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACAGGACACCTCACACTCAGGGTGCACTTCAAACCCACAGGTCATTTCACCTCACACTCACAGGACACCTCACACAAGATACCACACGGGGCACACTTCACACTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCACAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCACCATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAGGATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACACAGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTCACACTCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACGGGGCACACTTCACACTCAGGTCACCTCACACCCACAGGACACCTCACAGAGGTCACCTCACACCCACAGGACAACTCACAGAGGTCACCTCACACAGGACACCTCACAAAGGTCACCTCACACCCACAGGACACCTCACACTCATAGGTCACCTCAGTCTTACAGGACAACTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACTCACAGGTCACCTTACTCTCACAGGACACCTCACACAGGGCACACTTCACTCCCACAGGTCACCATACCTCACACAGATCACCTCATACTCACAGATCACTTCATTCTCACAGGATACCTCACACTCAGGGCACACTTCACACTCACAGGTCACACCTCACACAGATCATCTCATTCTCACAGGACACCTCCCTCTCACAGGTCACCTTACACTCATCTCACACTCACAGGTCGCCACACCTCACACTCACAGGATGCCTCACACTCACAGAACCACATCTCATATGCACAAGACACCTCACACTCAGGACACCTCATGCTCAAAGAAGCCTCACACTCACAGGAGGTCCAGCTGTCTGAGGCAAAGGCTAACATGACCCTTTCCAGACAAATTGAGGATGGTCATGCCTAGCATTTTTATACACCTAGTTTTGAAAGCATTTCTCATCTGTTGTATTCTCACAGCACCCCGTGAGTTTAAGTTCAGGTGGCCAACAGTTTCTTCAGCAATCACTTTTTTCTGTGGAGTGCTTTTGCTGTTTGTGGAATATTTTGCATCTGCTACTGCACCCTCTCCCCGTATGTGTGGCCACCCTGTCAGAGGTGGAGCTGTGGCTCAGAGCCTGTGTACCTCGTCCCAGGTCCACAGCTCAGCGACAGAAGAGTCAGGGTTGAACCTCGGGTGTTCTGACTTGGGAGCAGGAAATGTGTGGTCACCCATAGTTCCAGATGTCCTGGGGAGGGGCCAAGATTAGAAGAAACCTACCTCAGCTCCAGAGGAAAGTCTGGCTTCCTGAGCCCACCCCGCCAGACCCAGGTCCAAGTCCCCCAACCCCAGTTCATGGTGTGTCCAGTGCTTACCGTTGGGTGCTCTGGTGAAGGTGCATCTCACGAGGCTTGCTCTCTTGTTCCTTCAGAAGCTGTTCTGGATTTCTTACAGTGGTGAGTGGATGATCACCACCAGTCCTGCCTGCAACCCTTCTCAGCTTACTGACACCAGCCCACTCCACAGATGGGGACCAGTGTGCCTCAAGTCCATGCCAGGATGGGGGCTCCTGCAAGGACCAGCTCCAGTCCTATATCTGCTTCTGCCTCCCTGCCTTCGAGGGCCGGAACTGTGAGACGCGTAAGGCCCCACTTTGGGTCCCATATTTGCAGAGGGCCCTGGGGAGCTGGTGGAGGTGGCCTGGCCAACCGGGCTGCAGGGTGCACAACCTGGTGGGGTGTGTAGGCCGGGCATTCAGGGCTCAGCCCCAGTTGGAAATTGGTCTAGGTGACCTTGAAATCCCTTCCAGTCTGAGGTCTTTGACAGGGACCCAAGGTTCTGATTATCAGACTCAGTGGCCCCTTGGGCTCCCGGCCCTGGGCAATTCTCAGCCCTCGAGATGGCCCAGCTGAGAGTCCCTGTGTCCCTGTCCCACTTCCACATCCCACCACGCAGGACCGCTTGGTAAACTTCCCCTTCTCTACTTTCCATTACAAAGGTTTGAGGGGTTTGTTTTTTTTTTAACCATCTGAATATTAAATTATCACAAAGTTTGAGGCCCCCAACCTCCCTTGGGTTCAGTAATTCACTAGAAGGACTCATAGAATCCACTGAAGTGGATACACTCACAGGTACCGTTTATTACAGCAAAGGATGCAGGCTTAAGTCTGCAGAGGGACCAGGCACAAGCTTCCCCTTGTCCTCTCCCTGTGGGGTCATGTGGACAGTCCTTAATTCTCCCAGAATGACGTGTGACGAGACGTGGGAAGTACTGCCAACTTGGGAAGCTCTACGAGCCCCGGTGTCCAGAGGTTTTATCAGGGCTCAATCACATAGACCCAGCTGACCACCCGCATGGCTGACCTCAGTCTCAGCCCCTCCAGAGGCTACGCCGATAGTGCGGCCCAAGGCCCCACCATACATCACATTGTCAGCTAGACCATCCAGCATGGCTCAAGGCCCAGGTAAACACCAACATTCCCTCAGGCAAGACCTTCCAAGGGCTTAGCGGTCATTTCCCAGGAGCCAAGGCAAAGGCTACCCTTTCTCTGGCACAGCAGTTCATCCTTGACCACCCAAGACCACATTCTTACACTGAATGAGCTCTCCTGTGCAGCAGCCATTTTCTTCTCTAAGCAGAAGAGAGCCCAGCAAGCTGGAGGAGGCTGAAGAGAGAGGCTTCCTGCTGGTCATCTGGGTCCAGAATGCCTGGAGATCTCTGCTCAGCCCTGGTGCCCAGCAGCCCTGGTGTGCATCCTGCAGGGCAGGCCTTCCCGCCGGAGTCCTGGACTTGCTCAGGGCCACTCCCCTTGCCCATGTCAACCAAAGTCAGGCTGCCGGTTCTGCTTCTTCTGTCTGAGCCCATGACCAGTGCTGGGACTAACTGTCCCCAGGCGGGCTCACGGTGGTACGAGGCCAGCTTGGAGAACTGTCTCAGCTCTCTGGTCCTCTCGTCAGTTGGGTCTCTGATTGGAAAGTCCCTTGGACACTTTTACCATCCCCATTGGACTTTCACTTTCCCCCAGGCTCCCATCAGCTGCTCGGAAGAGTGGTCACCCTGGAGGCCACTGCCCACCAGCCAGGCACCCCCCAAATGCAACCGCAGCCAGCACTGCCAGCCACTGGCAAGGCTGTTCAGACATGTGGCTCCTCTGATCCACGCCTTGTCCTTTGGATCAGTCCACGGAGCAGGTGGTGCCAAGCTCAGGCTCTGTCACCCACAGCTCAGTGCCACCTTCCAGGCAGAACACCACTGCTGACCCAGGGCATGGCCACCCCGGGGGCTGGCTCTCGCTGACCCCCAGAAGCCCCTCTCAGGGTGTCCCCTTCCTGTCCCCAGACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAGTACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTGCTGGCAGACGGGGTGTCCTGCACACCCACAGGTGACCAGGCTTCATGTCCCAGTCCCAGATGACACCAGTCCCTGTCCCACTACGGATTATCTTACTGGACAAAAGACGGGTGGGAGTGGCTTCACATCTACTGAGCACTAACTATGCACTGACCAA
|
Task1_train_19427
|
A mutation in F7 (coagulation factor VII), located on Chromosome 13, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Factor VII deficiency
|
CAGACATGTGGCTCCTCTGATCCACGCCTTGTCCTTTGGATCAGTCCACGGAGCAGGTGGTGCCAAGCTCAGGCTCTGTCACCCACAGCTCAGTGCCACCTTCCAGGCAGAACACCACTGCTGACCCAGGGCATGGCCACCCCGGGGGCTGGCTCTCGCTGACCCCCAGAAGCCCCTCTCAGGGTGTCCCCTTCCTGTCCCCAGACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAGTACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTGCTGGCAGACGGGGTGTCCTGCACACCCACAGGTGACCAGGCTTCATGTCCCAGTCCCAGATGACACCAGTCCCTGTCCCACTACGGATTATCTTACTGGACAAAAGACGGGTGGGAGTGGCTTCACATCTACTGAGCACTAACTATGCACTGACCAATTGTGAGGTGGGATCTGGGCACCAAGGGTGGCACAGGCCAGAGCGACAGTGACTAGGATGGGCACCCTGGGGGCAATCCCTGAATGGCCTCAGGCCCCCTGCCAATTCTAGGCAGACCAGGGGAGCCAAGCAAGGCACTATCTCACGTCCAACTCCCACTCGCAGGACCTCCGCCAGGGTTCATGAATCTACTTCGGCACAGCCAATGTCTGTACTGACTGCTGCCCACTCTGCATTCCAAAACTCGTAAAGGCTCCTGGGAAAATGGGATGTTTCTCCAAACCAGCCTGGAACGAATGGGCTGCACTTCCAAAAGCAGGGACACCCCACACCCACTGTGTCTCAAAGAGGCGGACGTGCCCACCCTGGCCACACAGCCTGGGACTCAGCCTGCCACCTCCTCGGGCTTCCTTTCTGGCCCAAGACCTTGATTGAAGCAGATCAAAACTAAGCATGGGATCAAAACAACACAGTTTGATTCATCTTTAGGTAGAATTTCATTCACCTTCTACTAAAGTCAAACAACACATCTTCTCCCTGAAAAGTGAGCAGAGGGCGGTTTTAAGACGTAAGCCCTCTGTTTCCTCCAAAACCAGCCCTGACCATTGTCTCCTCAGCCAGCCACTTCTTCAAGGGCCTCTCATGGCCGGGCCCCACCAGTCAGGCCCAGCCGAGGCCCTGCCTTCCACCACCCCTGGGCCCTGGGAGCTCCTGCTCCTGGGGGCCTCCCATAGCCTCGGCCTCAAGGCCTCTCAGAGGATGGGTGTTTCTGAATCTTTCCTAGTGGCACGTTCATCCCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGA
|
CAGACATGTGGCTCCTCTGATCCACGCCTTGTCCTTTGGATCAGTCCACGGAGCAGGTGGTGCCAAGCTCAGGCTCTGTCACCCACAGCTCAGTGCCACCTTCCAGGCAGAACACCACTGCTGACCCAGGGCATGGCCACCCCGGGGGCTGGCTCTCGCTGACCCCCAGAAGCCCCTCTCAGGGTGTCCCCTTCCTGTCCCCAGACAAGGATGACCAGCTGATCTGTGTGAACGAGAACGGCGGCTGTGAGCAGTACTGCAGTGACCACACGGGCACCAAGCGCTCCTGTCGGTGCCACGAGGGGTACTCTCTGCTGGCAGACGGGGTGTCCTGCACACCCACAGGTGACCAGGCTTCATGTCCCAGTCCCAGATGACACCAGTCCCTGTCCCACTACGGATTATCTTACTGGACAAAAGACGGGTGGGAGTGGCTTCACATCTACTGAGCACTAACTATGCACTGACCAATTGTGAGGTGGGATCTGGGCACCAAGGGTGGCACAGGCCAGAGCGACAGTGACTAGGATGGGCACCCTGGGGGCAATCCCTGAATGGCCTCAGGCCCCCTGCCAATTCTAGGCAGACCAGGGGAGCCAAGCAAGGCACTATCTCACGTCCAACTCCCACTCGCAGGACCTCCGCCAGGGTTCATGAATCTACTTCGGCACAGCCAATGTCTGTACTGACTGCTGCCCACTCTGCATTCCAAAACTCGTAAAGGCTCCTGGGAAAATGGGATGTTTCTCCAAACCAGCCTGGAACGAATGGGCTGCACTTCCAAAAGCAGGGACACCCCACACCCACTGTGTCTCAAAGAGGCGGACGTGCCCACCCTGGCCACACAGCCTGGGACTCAGCCTGCCACCTCCTCGGGCTTCCTTTCTGGCCCAAGACCTTGATTGAAGCAGATCAAAACTAAGCATGGGATCAAAACAACACAGTTTGATTCATCTTTAGGTAGAATTTCATTCACCTTCTACTAAAGTCAAACAACACATCTTCTCCCTGAAAAGTGAGCAGAGGGCGGTTTTAAGACGTAAGCCCTCTGTTTCCTCCAAAACCAGCCCTGACCATTGTCTCCTCAGCCAGCCACTTCTTCAAGGGCCTCTCATGGCCGGGCCCCACCAGTCAGGCCCAGCCGAGGCCCTGCCTTCCACCACCCCTGGGCCCTGGGAGCTCCTGCTCCTGGGGGCCTCCCATAGCCTCGGCCTCAAGGCCTCTCAGAGGATGGGTGTTTCTGAATCTTTCCTAGTGGCACGTTCATCCCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTATGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGA
|
Task1_train_19428
|
Gene F7 (coagulation factor VII), found on Chromosome 13, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Factor VII deficiency
|
AGCCAGCCACTTCTTCAAGGGCCTCTCATGGCCGGGCCCCACCAGTCAGGCCCAGCCGAGGCCCTGCCTTCCACCACCCCTGGGCCCTGGGAGCTCCTGCTCCTGGGGGCCTCCCATAGCCTCGGCCTCAAGGCCTCTCAGAGGATGGGTGTTTCTGAATCTTTCCTAGTGGCACGTTCATCCCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCT
|
AGCCAGCCACTTCTTCAAGGGCCTCTCATGGCCGGGCCCCACCAGTCAGGCCCAGCCGAGGCCCTGCCTTCCACCACCCCTGGGCCCTGGGAGCTCCTGCTCCTGGGGGCCTCCCATAGCCTCGGCCTCAAGGCCTCTCAGAGGATGGGTGTTTCTGAATCTTTCCTAGTGGCACGTTCATCCCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTCCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCT
|
Task1_train_19429
|
Consider a variant on Chromosome 13 in gene F7 (coagulation factor VII). Determine its clinical classification and disease relevance.
|
Pathogenic; Congenital factor VII deficiency
|
CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAA
|
CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCGGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAA
|
Task1_train_19430
|
The gene F7 (coagulation factor VII) is located on Chromosome 13, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Congenital factor VII deficiency
|
CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAA
|
CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCGGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAA
|
Task1_train_19431
|
Given this context: Chromosome 13, gene F7 (coagulation factor VII) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Myocardial infarction, susceptibility to
|
CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAA
|
CCTCACAAATCTCTGCATCTTTCTGACTTTTGTTTTACACAGTTGAATATCCATGTGGAAAAATACCTATTCTAGAAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCGGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAA
|
Task1_train_19432
|
A variant found in Chromosome 13 affects F7 (coagulation factor VII). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Factor VII deficiency
|
AAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAATGCCCCCTAAACGGGACGGGAGCCAGTGGCGGGCCCTGATCCAGGTCAGAGCTGGCTCTGCTTTCTCTTTTGTCC
|
AAAAAAGAAATGCCAGCAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGTGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAATGCCCCCTAAACGGGACGGGAGCCAGTGGCGGGCCCTGATCCAGGTCAGAGCTGGCTCTGCTTTCTCTTTTGTCC
|
Task1_train_19433
|
This variant lies on Chromosome 13 and affects the gene F7 (coagulation factor VII). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; not provided
|
CAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGACGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAATGCCCCCTAAACGGGACGGGAGCCAGTGGCGGGCCCTGATCCAGGTCAGAGCTGGCTCTGCTTTCTCTTTTGTCCGAGTGACCATGCCTCA
|
CAAACCCCAAGGCCGAATTGTGGGGGGCAAGGTGTGCCCCAAAGGGGAGTGTCCATGGCAGGTAAGGCTTCCCCTGGCTTCAGGATTCCAAGCCCTGAGGGTCTTGAAGCCTTTTGAATGTGAACAACAGCTCTGGAAGGGAAAATGGGCAGGTCAGCCCCAAGCCCACCAGGCTCCAAGTCAGCACACCTAGCACCTCCAGCTCGCGGCACCCCCATGCTTTTAGTGGGGCAAGGAAGGAGAAAAGAAAACGACACTCACTGAGGGTCTACCCTGTGCAGAGAACCCTGCGAGATGCCCCATCCGAGTTGTCACGTCGTCCTCACGGTTACTCTTTGAGGTGGGATCTTTGCCTGATCTTTGCAAAATCAGGAGCATTGGATCAAAGCTATGTGAAGATCCTGTGAGGTGAACAGTGAAATCTCACAGCGACATTTGTATTCTTGGGCCGTGCCCAAGAGCACGTCTCGGCTAGAGAGGGGCACAGCCTCCCAGAGCCAGGTCTGAGCAGCTTTGCCTGGGAGGGATCTGCAAAGACCCCAGGATTTCAGAAAGAAATTGTGCAATGCCAGAGGTTCCTTGGCATGCCCGGGAGGGCGAGTCATCAGAGAAACAATGACAGCAATGTGACTTCCACACCTCCTGTCCCCCCGCCCAGGTCCTGTTGTTGGTGAATGGAGCTCAGTTGTGTGGGGGGACCCTGATCAACACCATCTGGGTGGTCTCCGCGGCCCACTGTTTCGACAAAATCAAGAACTGGAGGAACCTGATCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTCCGCTGTCCGACCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCTGACCGCAGCTCTCAAGTGTCTCAGGGGCTGTGGCTCTGGGCTTCGTGCTGTCACTTCCACAGACAGACAGACATCCCCAAAAGGGGAGCAACCATGCTGGGCACGACTGCTGTGGCCACCGTGCTCTCAGCCACTTTCCCATGCCCAAATAAAACGATAAAAGACTGGGGGCTTCTGCCCATCCTGCCTCACTTGACCAAGAGCCCAGAAGAGGATGCGACACCCAGGGCCTCATGGGACCACCGGCTGGCAGGGGTTCTGCTCACTGGGTTTATGGGTGAGACGAGCACTCCCAGGAGGGCCACTGGGCCGGGAAGAACTGTGGAGAATCGGGGCACGCCCTGTCCTCCCAGCTGCCAGGGCACAGCATCCCTTCCCCACCTCAACACCCAGACCCCAGATTCACCCCAGTTCACTTGTCCCCACACGAGCCACAGGCTGCCACCTGGGGCAGGCTGGCCCCACCTTGGGGTTAGATGCAGGTCCCCTTGCCCCAGAAGGAGACTGCAGCCCCTGCAGACCTAGAAATGGCCACAGCCCATCCCCATGCACCAGGGGGTGAGGTGGCAGGTGGTGGAAAGGGCCTGAGGGGGGCTTCTTCCTTCCAGGCGAGCACGACCTCAGCGAGCACGACGGGGATGAGCAGAGCCGGCGGGTGGCGCAGGTCATCATCCCCAGCACGTACGTCCCGGGCACCACCAACCACGACATCGCGCTGCTCCGCCTGCACCAGCCCGTGGTCCTCACTGACCATGTGGTGCCCCTCTGCCTGCCCGAACGGACGTTCTCTGAGAGGACGCTGGCCTTCGTGCGCTTCTCATTGGTCAGCGGCTGGGGCCAGCTGCTGGACCGTGGCGCCACGGCCCTGGAGCTCATGGTCCTCAACGTGCCCCGGCTGATGACCCAGGACTGCCTGCAGCAGTCACGGAAGGTGGGAGACTCCCCAAATATCACGGAGTACATGTTCTGTGCCGGCTACTCGGATGGCAGCAAGGACTCCTGCAAGGGGGACAGTGGAGGCCCACATGCCACCCACTACCGGGGCACGTGGTACCTGATGGGCATCGTCAGCTGGGGCCAGGGCTGCGCAACCGTGGGCCACTTTGGGGTGTACACCAGGGTCTCCCAGTACATCGAGTGGCTGCAAAAGCTCATGCGCTCAGAGCCACGCCCAGGAGTCCTCCTGCGAGCCCCATTTCCCTAGCCCAGCAGCCCTGGCCTGTGGAGAGAAAGCCAAGGCTGCGTCGAACTGTCCTGGCACCAAATCCCATATATTCTTCTGCAGTTAATGGGGTAGAGGAGGGCATGGGAGGGAGGGAGAGGTGGGGAGGGAGACAGAGACAGAAACAGAGAGAGACAGAGACAGAGAGAGACTGAGGGAGAGACTCTGAGGACATGGAGAGAGACTCAAAGAGACTCCAAGATTCAAAGAGACTAATAGAGACACAGAGATGGAATAGAAAAGATGAGAGGCAGAGGCAGACAGGCGCTGGACAGAGGGGCAGGGGAGTGCCAAGGTTGTCCTGGAGGCAGACAGCCCAGCTGAGCCTCCTTACCTCCCTTCAGCCAAGCCCACCTGCACGTGATCTGCTGGCCTCAGGCTGCTGCTCTGCCTTCATTGCTGGAGACAGTAGAGGCATGAACACACATGGATGCACACACACACACGCCAATGCACACACACAGAGATATGCACACACACGGATGCACACACAGATGGTCACACAGAGATACGCAAACACACCGATGCACACGCACATAGAGATATGCACACACAGATGCACACACAGATATACACATGGATGCACGCACATGCCAATGCACGCACACATCAGTGCACACGGATGCACAGAGATATGCACACACCGATGTGCGCACACACAGATATGCACACACATGGATGAGCACACACACACCAATGCGCACACACACCGATGTACACACACAGATGCACACACAGATGCACACACACCGATGCTGACTCCATGTGTGCTGTCCTCTGAAGGCGGTTGTTTAGCTCTCACTTTTCTGGTTCTTATCCATTATCATCTTCACTTCAGACAATTCAGAAGCATCACCATGCATGGTGGCGAATGCCCCCAAACTCTCCCCCAAATGTATTTCTCCCTTCGCTGGGTGCCGGGCTGCACAGACTATTCCCCACCTGCTTCCCAGCTTCACAATAAACGGCTGCGTCTCCTCCGCACACCTGTGGTGCCTGCCACCCACTGGGTTGCCCATGATTCATTTTTGGAGCCCCCGGTGCTCATCCTCTGAGATGCTCTTTTCTTTCACAATTTTCAACATCACTGAAATGAACCCTCACATGGAAGCTATTTTTTAAAAACAAAAGCTGTTTGATAGATGTTTGAGGCTGTAGCTCCCAGGATCCTGTGGAATTGGATGTTCTCTCCCTGCCACAGCCCTTGTCAATGATATTTCACAGAGACCCTGGGAGCACCTGCTCAAGAGTCAGGGACACACGCATCACTAAATGCAAGTTCCCAGGCCCTGGCTGCAGTGGGAGGACCTGGCAAGCTGCACTCTTGCTGAGTCCCCAGGGTGGTGGAAGAAGAATGAGAAACACATGAACAGAGAAATGGGGAGGTGACAAACAGTGCCCCCACTCAGACTCCGGCAAGCACGGCTCAGAGAGTGGACTCGATGCCATCCCTGCAGGGCCGTCCTGGGCACCACTGGCACTCACAGCAGCAAGGTGGGCACCATTGGCACTCACAGCAGCAAGGCAGGCACCAGCAACCCACCTCGGGGGCACTCAGGCATCATCTACTTCAGAGCAGACAGGGTCTATGAACTACAGCCGTGGGCTGCTTCCAAGGCACCCTGCTCTTGTAAATAAAGTTTTATGGGAACACACCCATATTAGTGTCCATGGAGTGGCCGTGGCAGAGACGTCCAGCCGGACAGACCAGCTGACCCGCCAAGCCCAGCATGGTTAGTGTCAGGACCTCTGCTGAAGATGCTTGCTGACCCTGGCCAGACCCCGGTTCCTAATGCCCCCTAAACGGGACGGGAGCCAGTGGCGGGCCCTGATCCAGGTCAGAGCTGGCTCTGCTTTCTCTTTTGTCCGAGTGACCATGCCTCA
|
Task1_train_19434
|
A change on Chromosome 13 affects gene F10, F10-AS1 (coagulation factor X| F10 antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Factor X deficiency
|
GCTGTCAAAATGAAAAGAGGAGGAGGAGTGGGTGAGAGACAAAGGAGACACAGGCAGAGAGATGTGGACAGCACAGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATTGAAACAGCATCACCAATCCCCACATAACAAAGAGCAGAGACCTTAAAGACGAGTGGGGCCAGGCTGAAGGGGCACAGCTTGAGCCAAAGCACAGAACAGTGGGCTGAAAGCACCCTAGGGAGGGAGAATTCAAGGAAGGGGGCTTGGGTGGCCAGGCTGAGCCAGCGTGAGCATGTGAGGAGGCTGGTGAGCTGATTGGGTGGGATGTGTCTACTTCTCCAGAGAAGGGTGCATGGGTCTAGAGCAGGTGCCTCATGCTGTACCTCATAGAGAACTGGGGGGAGGGGGGAAATGGGCATTTCCCTCCACAGCCCCCAAAGTGCCTGAGGAAAGTGTTGATAAAGAAGCCAAACTCTGTAAAATATTTGAAGAGATTTATTCTGAGCCAAATGTGAGGACCACGACCCATGACACAGCCTTGGAAGGTCCTGAGAACATGTGTCCAAGGTAGTTGGGTCACAGCTTGATTTTATGTATTTTAGGGGGACAGAAGTTACATACAGACACCAATCAATAAGCATAAGTTGTACACTGGTTCGTTCCAGAAAAGGGGAAGGTGGGGGCTTCCAGGTCATAGGTGGCTTCAAAGATATTCTGATTGGCAATCAGTTGAAAGAGTTATTATCTAAAGACCTGGAATAAATGGAAAGGAGTATCTGGGTTAAGATAAGAGGTTGTGGAGACCAAGGTTCTTGTTATGTAGATGAAGACTCATAGGTGGCCACCCTTAGAGGGAATAGATGGCAACTGTTTCCTCTTCAGACCTTTAAAAGGTGCTACACACATGGCCAGGCGCCTTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCTTGCCTGTAGTTTCAGCTACTCGGGAGGCTGAGACAGTAGAATCTCCTCCTGAGGCAGGACAATGGCTTGAACCTGGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGATGACAGAGCAAAACACCATCTTAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAGGTGCTAGACTCTCAGCTCAGAAAAAGACCTGGAATGGTAAGGGGGTTCTCTACAGAATGTGGATTTCCCTGAGATAGCTTTGCAGGGCCATTTCAAAATATGTCAAACAAATACAATTTGGAGTAAAATCATTTATTTTAGGGCCTGCTATATGTCATGTGATCCTATACTAGAGAAGTCAGGTTGGAAACTGGTATCTTATTGCTACAAAGACTCTGTTTGGTCAGCCTCAAGGTCTCTTAACGTGAATGCTGGTCAGCTGTGCCCGAATTCCAAAGGAAGAAATAATGAGGCGTGTGGGACCTGCTTCCCCTCATGGCCTCAACTAGTCTTTCAGGTTCCTATGGAATTCCCTTGGCAGAGAGGACGGGTCCACTCAGTGAGTTGGGGGCTTAGAATTTTATTTTTGGTTTACAAGAGAGTGATCCGCCTTTTGTGATCTGGATATGGCAAGGGACATGGCAGTCAGGGAGCATAGGTGAGGGGGAGCCTGGGTGAGGGTGACCAGAGCTTTTAACCCTGTCCTCCCTGCCTTCCAGTGTTCATCCGCAGGGAGCAGGCCAACAACATCCTGGCGAGGGTCACGAGGGCCAATTCCTTTCTTGAAGAGATGAAGAAAGGACACCTCGAAAGAGAGTGCATGGAAGAGACCTGCTCATACGAAGAGGCCCGCGAGGTCTTTGAGGACAGCGACAAGACGGTAAGGGCTGGGGATAGCCTGGCTGTTGGTAAGGAGCTCAGGCCACAGCGCCCTCGCTGGCCCCGCTGCTCCGTCCATCCAGGGGGGCGGCCTGGAGGAAGGGGCAGCGTGCGCGAAGGCTTTCAGGGGCGGGGCCCAGCAAATCGAGGCCTCGGCGGAGTCCTGCCCACAGGGACATCAGTGCCGCCCCCGCGCTGACTCCTTCCCGGCGAGGACTCAGCGGGGAGGGATGCGCCCAAGTCCCTTGAGGGTCACAGGGCTTCTGCCAGAGTTAAGTTCTATTTAAAAATAAAATGTTAACCTAAAAACCAATAGTCATGGTCTCGGCCAGCGCCTCGCCGAGTTGCAGTGAGCTGAGATCGTGCCCTCCCACGCCCGCAGCCCGCGTCCTGCCTTGGCCTCCGTAGTCGCTGAGAGCCACAGCCTAGAGCGCCAGCGCGCAGGCGCACAACTGACGCCAGGCCACGAACCCAGTACTGCTCCTGCACAGCAGAAGCACTAGCACTGAGGCCGGGCGGCGAACCCGGCACTGCGCCTGCGCAGCAAAAGGACACGCACTGAGGCCAGGCCGCGAACCCAGCACGGTGCCTGCGCAGCAGGAAGACCGGCATCCACACCGGACGACGAACCCAGCATCGCGCCTGCGCAGTAGGAGGAGAGCAATGCCACCAGGCCGCGATTGCGCAGCCGCAGCAGCCCCGCGCGGAAGACGCTACCCTCCTCTCCCCCGAAGAGGCGGGGCTTCGAACGAACCTGGAAATGGCCGAGGGGTCTCGACTTCCTCACCCCAGGCATCAGGAAAGGTGCCTGCAGGACAGGGCTCTGAAGTGGAAGTGGGCGGTGGTGATGCCGAACTGACAAGAATGAGCTGAAGAGAAGAAAGTAGCCGAGAAGGGGGCCAAGCCGGAGCTCAGTGAGCAACAGCTAGGCCAGCCGCGGCTGGTGCCATCAGCCACACCACTAACTGTGGACCCAAATGGAAACTTTGAGGCCCCTTACAGGTCCCCCAGCGCAGGCCACCGCCGAAGGTTACTGGGGAAGACCCCTGCAGCTTCCATGTGGACATTACTCGCTTGCTTCATCCCGGAGTGCAGTCACCTGCAGCCTGGGACCACCTGACTGATGTCACCCTGGAGATCCATGCCAAAAGAGCTGGGGAAAGTTCACCTTCTAATGACCCCTGCGGACCAGGGTGAAGTTACAAGTTATGGCCAGGTCAAGGAATTATAAGTCAATAAATAAACTGCCTCAGGGAGACGTACTCAGAGTCCAGGAAAATCTAGGAAACACCAAGAAGGGCGAGCGCAGCATCAGCCCCTGCAAAATTGCACTGCTGCCTCCTGGCTCACATGTTGCCCCATCCTTACTTTAGCCTCAAAGGCAAGGAGACCCAATATTATTTGAGTACTTGGATTTGATCCTGAGTGACTTTCTGAGAAAGCAGTGTATCATCTGCCCTAAGATCACCACATATATGACAAGGTTTTTGGATGAGTTGAGATTTCTAGACATTGAAACCCTCATGATGAACGTCATCCCGGGTAGCAGGGGCTAAGCCTTTCATCACCTGCTACAACAAGCTGGACATTAACTTGTATTTGAGAATTGCTCCAGGACTCTACCTTCAGATGCTGGTTAGTAGCATTGACTGGATTTATGAAATTGGATGCCAGTTAAGGAATAAGAGAATGTATTTGATTTGCCACCCTATATGGTCTGTGCAGACTGTCATGATCTCATTGAAATCCAAGAAAAGATTATGTCAGGGATGAAGCACATCACAGGTGGTTACAAGGTCACCCACCATCCAGATGGCTCAGAAAGCCAAACCTATGGGTTGACTTCTCCTCACCCTTCTGGAGAATCAGTGTGGTAGAAGAGCTTGAAAAAGTGCTGGGTGTGACGCTGCCAGAAACTAACCTCTTTGGAACTGAAGAAACTCAAAAAATTATTGGT
|
GCTGTCAAAATGAAAAGAGGAGGAGGAGTGGGTGAGAGACAAAGGAGACACAGGCAGAGAGATGTGGACAGCACAGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATTGAAACAGCATCACCAATCCCCACATAACAAAGAGCAGAGACCTTAAAGACGAGTGGGGCCAGGCTGAAGGGGCACAGCTTGAGCCAAAGCACAGAACAGTGGGCTGAAAGCACCCTAGGGAGGGAGAATTCAAGGAAGGGGGCTTGGGTGGCCAGGCTGAGCCAGCGTGAGCATGTGAGGAGGCTGGTGAGCTGATTGGGTGGGATGTGTCTACTTCTCCAGAGAAGGGTGCATGGGTCTAGAGCAGGTGCCTCATGCTGTACCTCATAGAGAACTGGGGGGAGGGGGGAAATGGGCATTTCCCTCCACAGCCCCCAAAGTGCCTGAGGAAAGTGTTGATAAAGAAGCCAAACTCTGTAAAATATTTGAAGAGATTTATTCTGAGCCAAATGTGAGGACCACGACCCATGACACAGCCTTGGAAGGTCCTGAGAACATGTGTCCAAGGTAGTTGGGTCACAGCTTGATTTTATGTATTTTAGGGGGACAGAAGTTACATACAGACACCAATCAATAAGCATAAGTTGTACACTGGTTCGTTCCAGAAAAGGGGAAGGTGGGGGCTTCCAGGTCATAGGTGGCTTCAAAGATATTCTGATTGGCAATCAGTTGAAAGAGTTATTATCTAAAGACCTGGAATAAATGGAAAGGAGTATCTGGGTTAAGATAAGAGGTTGTGGAGACCAAGGTTCTTGTTATGTAGATGAAGACTCATAGGTGGCCACCCTTAGAGGGAATAGATGGCAACTGTTTCCTCTTCAGACCTTTAAAAGGTGCTACACACATGGCCAGGCGCCTTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCTTGCCTGTAGTTTCAGCTACTCGGGAGGCTGAGACAGTAGAATCTCCTCCTGAGGCAGGACAATGGCTTGAACCTGGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGATGACAGAGCAAAACACCATCTTAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAGGTGCTAGACTCTCAGCTCAGAAAAAGACCTGGAATGGTAAGGGGGTTCTCTACAGAATGTGGATTTCCCTGAGATAGCTTTGCAGGGCCATTTCAAAATATGTCAAACAAATACAATTTGGAGTAAAATCATTTATTTTAGGGCCTGCTATATGTCATGTGATCCTATACTAGAGAAGTCAGGTTGGAAACTGGTATCTTATTGCTACAAAGACTCTGTTTGGTCAGCCTCAAGGTCTCTTAACGTGAATGCTGGTCAGCTGTGCCCGAATTCCAAAGGAAGAAATAATGAGGCGTGTGGGACCTGCTTCCCCTCATGGCCTCAACTAGTCTTTCAGGTTCCTATGGAATTCCCTTGGCAGAGAGGACGGGTCCACTCAGTGAGTTGGGGGCTTAGAATTTTATTTTTGGTTTACAAGAGAGTGATCCGCCTTTTGTGATCTGGATATGGCAAGGGACATGGCAGTCAGGGAGCATAGGTGAGGGGGAGCCTGGGTGAGGGTGACCAGAGCTTTTAACCCTGTCCTCCCTGCCTTCCAGTGTTCATCCGCAGGGAGCAGGCCAACAACATCCTGGCGAGGGTCACGAGGGCCAATTCCTTTCTTGAAGGGATGAAGAAAGGACACCTCGAAAGAGAGTGCATGGAAGAGACCTGCTCATACGAAGAGGCCCGCGAGGTCTTTGAGGACAGCGACAAGACGGTAAGGGCTGGGGATAGCCTGGCTGTTGGTAAGGAGCTCAGGCCACAGCGCCCTCGCTGGCCCCGCTGCTCCGTCCATCCAGGGGGGCGGCCTGGAGGAAGGGGCAGCGTGCGCGAAGGCTTTCAGGGGCGGGGCCCAGCAAATCGAGGCCTCGGCGGAGTCCTGCCCACAGGGACATCAGTGCCGCCCCCGCGCTGACTCCTTCCCGGCGAGGACTCAGCGGGGAGGGATGCGCCCAAGTCCCTTGAGGGTCACAGGGCTTCTGCCAGAGTTAAGTTCTATTTAAAAATAAAATGTTAACCTAAAAACCAATAGTCATGGTCTCGGCCAGCGCCTCGCCGAGTTGCAGTGAGCTGAGATCGTGCCCTCCCACGCCCGCAGCCCGCGTCCTGCCTTGGCCTCCGTAGTCGCTGAGAGCCACAGCCTAGAGCGCCAGCGCGCAGGCGCACAACTGACGCCAGGCCACGAACCCAGTACTGCTCCTGCACAGCAGAAGCACTAGCACTGAGGCCGGGCGGCGAACCCGGCACTGCGCCTGCGCAGCAAAAGGACACGCACTGAGGCCAGGCCGCGAACCCAGCACGGTGCCTGCGCAGCAGGAAGACCGGCATCCACACCGGACGACGAACCCAGCATCGCGCCTGCGCAGTAGGAGGAGAGCAATGCCACCAGGCCGCGATTGCGCAGCCGCAGCAGCCCCGCGCGGAAGACGCTACCCTCCTCTCCCCCGAAGAGGCGGGGCTTCGAACGAACCTGGAAATGGCCGAGGGGTCTCGACTTCCTCACCCCAGGCATCAGGAAAGGTGCCTGCAGGACAGGGCTCTGAAGTGGAAGTGGGCGGTGGTGATGCCGAACTGACAAGAATGAGCTGAAGAGAAGAAAGTAGCCGAGAAGGGGGCCAAGCCGGAGCTCAGTGAGCAACAGCTAGGCCAGCCGCGGCTGGTGCCATCAGCCACACCACTAACTGTGGACCCAAATGGAAACTTTGAGGCCCCTTACAGGTCCCCCAGCGCAGGCCACCGCCGAAGGTTACTGGGGAAGACCCCTGCAGCTTCCATGTGGACATTACTCGCTTGCTTCATCCCGGAGTGCAGTCACCTGCAGCCTGGGACCACCTGACTGATGTCACCCTGGAGATCCATGCCAAAAGAGCTGGGGAAAGTTCACCTTCTAATGACCCCTGCGGACCAGGGTGAAGTTACAAGTTATGGCCAGGTCAAGGAATTATAAGTCAATAAATAAACTGCCTCAGGGAGACGTACTCAGAGTCCAGGAAAATCTAGGAAACACCAAGAAGGGCGAGCGCAGCATCAGCCCCTGCAAAATTGCACTGCTGCCTCCTGGCTCACATGTTGCCCCATCCTTACTTTAGCCTCAAAGGCAAGGAGACCCAATATTATTTGAGTACTTGGATTTGATCCTGAGTGACTTTCTGAGAAAGCAGTGTATCATCTGCCCTAAGATCACCACATATATGACAAGGTTTTTGGATGAGTTGAGATTTCTAGACATTGAAACCCTCATGATGAACGTCATCCCGGGTAGCAGGGGCTAAGCCTTTCATCACCTGCTACAACAAGCTGGACATTAACTTGTATTTGAGAATTGCTCCAGGACTCTACCTTCAGATGCTGGTTAGTAGCATTGACTGGATTTATGAAATTGGATGCCAGTTAAGGAATAAGAGAATGTATTTGATTTGCCACCCTATATGGTCTGTGCAGACTGTCATGATCTCATTGAAATCCAAGAAAAGATTATGTCAGGGATGAAGCACATCACAGGTGGTTACAAGGTCACCCACCATCCAGATGGCTCAGAAAGCCAAACCTATGGGTTGACTTCTCCTCACCCTTCTGGAGAATCAGTGTGGTAGAAGAGCTTGAAAAAGTGCTGGGTGTGACGCTGCCAGAAACTAACCTCTTTGGAACTGAAGAAACTCAAAAAATTATTGGT
|
Task1_train_19435
|
This is a variant in F10, F10-AS1 (coagulation factor X| F10 antisense RNA 1), located on Chromosome 13. Is this mutation a likely cause of disease or not?
|
Pathogenic; Factor X deficiency
|
AGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATTGAAACAGCATCACCAATCCCCACATAACAAAGAGCAGAGACCTTAAAGACGAGTGGGGCCAGGCTGAAGGGGCACAGCTTGAGCCAAAGCACAGAACAGTGGGCTGAAAGCACCCTAGGGAGGGAGAATTCAAGGAAGGGGGCTTGGGTGGCCAGGCTGAGCCAGCGTGAGCATGTGAGGAGGCTGGTGAGCTGATTGGGTGGGATGTGTCTACTTCTCCAGAGAAGGGTGCATGGGTCTAGAGCAGGTGCCTCATGCTGTACCTCATAGAGAACTGGGGGGAGGGGGGAAATGGGCATTTCCCTCCACAGCCCCCAAAGTGCCTGAGGAAAGTGTTGATAAAGAAGCCAAACTCTGTAAAATATTTGAAGAGATTTATTCTGAGCCAAATGTGAGGACCACGACCCATGACACAGCCTTGGAAGGTCCTGAGAACATGTGTCCAAGGTAGTTGGGTCACAGCTTGATTTTATGTATTTTAGGGGGACAGAAGTTACATACAGACACCAATCAATAAGCATAAGTTGTACACTGGTTCGTTCCAGAAAAGGGGAAGGTGGGGGCTTCCAGGTCATAGGTGGCTTCAAAGATATTCTGATTGGCAATCAGTTGAAAGAGTTATTATCTAAAGACCTGGAATAAATGGAAAGGAGTATCTGGGTTAAGATAAGAGGTTGTGGAGACCAAGGTTCTTGTTATGTAGATGAAGACTCATAGGTGGCCACCCTTAGAGGGAATAGATGGCAACTGTTTCCTCTTCAGACCTTTAAAAGGTGCTACACACATGGCCAGGCGCCTTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCTTGCCTGTAGTTTCAGCTACTCGGGAGGCTGAGACAGTAGAATCTCCTCCTGAGGCAGGACAATGGCTTGAACCTGGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGATGACAGAGCAAAACACCATCTTAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAGGTGCTAGACTCTCAGCTCAGAAAAAGACCTGGAATGGTAAGGGGGTTCTCTACAGAATGTGGATTTCCCTGAGATAGCTTTGCAGGGCCATTTCAAAATATGTCAAACAAATACAATTTGGAGTAAAATCATTTATTTTAGGGCCTGCTATATGTCATGTGATCCTATACTAGAGAAGTCAGGTTGGAAACTGGTATCTTATTGCTACAAAGACTCTGTTTGGTCAGCCTCAAGGTCTCTTAACGTGAATGCTGGTCAGCTGTGCCCGAATTCCAAAGGAAGAAATAATGAGGCGTGTGGGACCTGCTTCCCCTCATGGCCTCAACTAGTCTTTCAGGTTCCTATGGAATTCCCTTGGCAGAGAGGACGGGTCCACTCAGTGAGTTGGGGGCTTAGAATTTTATTTTTGGTTTACAAGAGAGTGATCCGCCTTTTGTGATCTGGATATGGCAAGGGACATGGCAGTCAGGGAGCATAGGTGAGGGGGAGCCTGGGTGAGGGTGACCAGAGCTTTTAACCCTGTCCTCCCTGCCTTCCAGTGTTCATCCGCAGGGAGCAGGCCAACAACATCCTGGCGAGGGTCACGAGGGCCAATTCCTTTCTTGAAGAGATGAAGAAAGGACACCTCGAAAGAGAGTGCATGGAAGAGACCTGCTCATACGAAGAGGCCCGCGAGGTCTTTGAGGACAGCGACAAGACGGTAAGGGCTGGGGATAGCCTGGCTGTTGGTAAGGAGCTCAGGCCACAGCGCCCTCGCTGGCCCCGCTGCTCCGTCCATCCAGGGGGGCGGCCTGGAGGAAGGGGCAGCGTGCGCGAAGGCTTTCAGGGGCGGGGCCCAGCAAATCGAGGCCTCGGCGGAGTCCTGCCCACAGGGACATCAGTGCCGCCCCCGCGCTGACTCCTTCCCGGCGAGGACTCAGCGGGGAGGGATGCGCCCAAGTCCCTTGAGGGTCACAGGGCTTCTGCCAGAGTTAAGTTCTATTTAAAAATAAAATGTTAACCTAAAAACCAATAGTCATGGTCTCGGCCAGCGCCTCGCCGAGTTGCAGTGAGCTGAGATCGTGCCCTCCCACGCCCGCAGCCCGCGTCCTGCCTTGGCCTCCGTAGTCGCTGAGAGCCACAGCCTAGAGCGCCAGCGCGCAGGCGCACAACTGACGCCAGGCCACGAACCCAGTACTGCTCCTGCACAGCAGAAGCACTAGCACTGAGGCCGGGCGGCGAACCCGGCACTGCGCCTGCGCAGCAAAAGGACACGCACTGAGGCCAGGCCGCGAACCCAGCACGGTGCCTGCGCAGCAGGAAGACCGGCATCCACACCGGACGACGAACCCAGCATCGCGCCTGCGCAGTAGGAGGAGAGCAATGCCACCAGGCCGCGATTGCGCAGCCGCAGCAGCCCCGCGCGGAAGACGCTACCCTCCTCTCCCCCGAAGAGGCGGGGCTTCGAACGAACCTGGAAATGGCCGAGGGGTCTCGACTTCCTCACCCCAGGCATCAGGAAAGGTGCCTGCAGGACAGGGCTCTGAAGTGGAAGTGGGCGGTGGTGATGCCGAACTGACAAGAATGAGCTGAAGAGAAGAAAGTAGCCGAGAAGGGGGCCAAGCCGGAGCTCAGTGAGCAACAGCTAGGCCAGCCGCGGCTGGTGCCATCAGCCACACCACTAACTGTGGACCCAAATGGAAACTTTGAGGCCCCTTACAGGTCCCCCAGCGCAGGCCACCGCCGAAGGTTACTGGGGAAGACCCCTGCAGCTTCCATGTGGACATTACTCGCTTGCTTCATCCCGGAGTGCAGTCACCTGCAGCCTGGGACCACCTGACTGATGTCACCCTGGAGATCCATGCCAAAAGAGCTGGGGAAAGTTCACCTTCTAATGACCCCTGCGGACCAGGGTGAAGTTACAAGTTATGGCCAGGTCAAGGAATTATAAGTCAATAAATAAACTGCCTCAGGGAGACGTACTCAGAGTCCAGGAAAATCTAGGAAACACCAAGAAGGGCGAGCGCAGCATCAGCCCCTGCAAAATTGCACTGCTGCCTCCTGGCTCACATGTTGCCCCATCCTTACTTTAGCCTCAAAGGCAAGGAGACCCAATATTATTTGAGTACTTGGATTTGATCCTGAGTGACTTTCTGAGAAAGCAGTGTATCATCTGCCCTAAGATCACCACATATATGACAAGGTTTTTGGATGAGTTGAGATTTCTAGACATTGAAACCCTCATGATGAACGTCATCCCGGGTAGCAGGGGCTAAGCCTTTCATCACCTGCTACAACAAGCTGGACATTAACTTGTATTTGAGAATTGCTCCAGGACTCTACCTTCAGATGCTGGTTAGTAGCATTGACTGGATTTATGAAATTGGATGCCAGTTAAGGAATAAGAGAATGTATTTGATTTGCCACCCTATATGGTCTGTGCAGACTGTCATGATCTCATTGAAATCCAAGAAAAGATTATGTCAGGGATGAAGCACATCACAGGTGGTTACAAGGTCACCCACCATCCAGATGGCTCAGAAAGCCAAACCTATGGGTTGACTTCTCCTCACCCTTCTGGAGAATCAGTGTGGTAGAAGAGCTTGAAAAAGTGCTGGGTGTGACGCTGCCAGAAACTAACCTCTTTGGAACTGAAGAAACTCAAAAAATTATTGGTGATATCTATGTAACAAAAGCTTTTGAAAGTCTTCTACCTCAGAACATATTCAGGCGCCTTGATAAACTTGTCAA
|
AGCCCACAGACACACACTCTACAAGGGACACAGACTCTCGGATCCAGGGCATTTTAACCAGCAGATCAAGACTCATTTGCCAGTCATGAAATCAACTCAGTATTTTTTTTTAAAAGAGTAGAATCAAATAGAAAACTTTGTACTAAGTACTGTATTTTAGGAAATACTAATAAATACTATTTCTTGAAAGTTGGCATGTATGTGTGTCCTGGCACTTCATAAATTGTACTATTATAGTTTGTAATTGAAACAGCATCACCAATCCCCACATAACAAAGAGCAGAGACCTTAAAGACGAGTGGGGCCAGGCTGAAGGGGCACAGCTTGAGCCAAAGCACAGAACAGTGGGCTGAAAGCACCCTAGGGAGGGAGAATTCAAGGAAGGGGGCTTGGGTGGCCAGGCTGAGCCAGCGTGAGCATGTGAGGAGGCTGGTGAGCTGATTGGGTGGGATGTGTCTACTTCTCCAGAGAAGGGTGCATGGGTCTAGAGCAGGTGCCTCATGCTGTACCTCATAGAGAACTGGGGGGAGGGGGGAAATGGGCATTTCCCTCCACAGCCCCCAAAGTGCCTGAGGAAAGTGTTGATAAAGAAGCCAAACTCTGTAAAATATTTGAAGAGATTTATTCTGAGCCAAATGTGAGGACCACGACCCATGACACAGCCTTGGAAGGTCCTGAGAACATGTGTCCAAGGTAGTTGGGTCACAGCTTGATTTTATGTATTTTAGGGGGACAGAAGTTACATACAGACACCAATCAATAAGCATAAGTTGTACACTGGTTCGTTCCAGAAAAGGGGAAGGTGGGGGCTTCCAGGTCATAGGTGGCTTCAAAGATATTCTGATTGGCAATCAGTTGAAAGAGTTATTATCTAAAGACCTGGAATAAATGGAAAGGAGTATCTGGGTTAAGATAAGAGGTTGTGGAGACCAAGGTTCTTGTTATGTAGATGAAGACTCATAGGTGGCCACCCTTAGAGGGAATAGATGGCAACTGTTTCCTCTTCAGACCTTTAAAAGGTGCTACACACATGGCCAGGCGCCTTGGCTCATCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCTTGCCTGTAGTTTCAGCTACTCGGGAGGCTGAGACAGTAGAATCTCCTCCTGAGGCAGGACAATGGCTTGAACCTGGGAGGCAGATGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGATGACAGAGCAAAACACCATCTTAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAGGTGCTAGACTCTCAGCTCAGAAAAAGACCTGGAATGGTAAGGGGGTTCTCTACAGAATGTGGATTTCCCTGAGATAGCTTTGCAGGGCCATTTCAAAATATGTCAAACAAATACAATTTGGAGTAAAATCATTTATTTTAGGGCCTGCTATATGTCATGTGATCCTATACTAGAGAAGTCAGGTTGGAAACTGGTATCTTATTGCTACAAAGACTCTGTTTGGTCAGCCTCAAGGTCTCTTAACGTGAATGCTGGTCAGCTGTGCCCGAATTCCAAAGGAAGAAATAATGAGGCGTGTGGGACCTGCTTCCCCTCATGGCCTCAACTAGTCTTTCAGGTTCCTATGGAATTCCCTTGGCAGAGAGGACGGGTCCACTCAGTGAGTTGGGGGCTTAGAATTTTATTTTTGGTTTACAAGAGAGTGATCCGCCTTTTGTGATCTGGATATGGCAAGGGACATGGCAGTCAGGGAGCATAGGTGAGGGGGAGCCTGGGTGAGGGTGACCAGAGCTTTTAACCCTGTCCTCCCTGCCTTCCAGTGTTCATCCGCAGGGAGCAGGCCAACAACATCCTGGCGAGGGTCACGAGGGCCAATTCCTTTCTTGAAGAGATGAAGAAAGGACACCTCGAAAGAGAGTGCATGGAAGAGACCTGCTCATACGAAGAGGCCCGCGAGGTCTTTCAGGACAGCGACAAGACGGTAAGGGCTGGGGATAGCCTGGCTGTTGGTAAGGAGCTCAGGCCACAGCGCCCTCGCTGGCCCCGCTGCTCCGTCCATCCAGGGGGGCGGCCTGGAGGAAGGGGCAGCGTGCGCGAAGGCTTTCAGGGGCGGGGCCCAGCAAATCGAGGCCTCGGCGGAGTCCTGCCCACAGGGACATCAGTGCCGCCCCCGCGCTGACTCCTTCCCGGCGAGGACTCAGCGGGGAGGGATGCGCCCAAGTCCCTTGAGGGTCACAGGGCTTCTGCCAGAGTTAAGTTCTATTTAAAAATAAAATGTTAACCTAAAAACCAATAGTCATGGTCTCGGCCAGCGCCTCGCCGAGTTGCAGTGAGCTGAGATCGTGCCCTCCCACGCCCGCAGCCCGCGTCCTGCCTTGGCCTCCGTAGTCGCTGAGAGCCACAGCCTAGAGCGCCAGCGCGCAGGCGCACAACTGACGCCAGGCCACGAACCCAGTACTGCTCCTGCACAGCAGAAGCACTAGCACTGAGGCCGGGCGGCGAACCCGGCACTGCGCCTGCGCAGCAAAAGGACACGCACTGAGGCCAGGCCGCGAACCCAGCACGGTGCCTGCGCAGCAGGAAGACCGGCATCCACACCGGACGACGAACCCAGCATCGCGCCTGCGCAGTAGGAGGAGAGCAATGCCACCAGGCCGCGATTGCGCAGCCGCAGCAGCCCCGCGCGGAAGACGCTACCCTCCTCTCCCCCGAAGAGGCGGGGCTTCGAACGAACCTGGAAATGGCCGAGGGGTCTCGACTTCCTCACCCCAGGCATCAGGAAAGGTGCCTGCAGGACAGGGCTCTGAAGTGGAAGTGGGCGGTGGTGATGCCGAACTGACAAGAATGAGCTGAAGAGAAGAAAGTAGCCGAGAAGGGGGCCAAGCCGGAGCTCAGTGAGCAACAGCTAGGCCAGCCGCGGCTGGTGCCATCAGCCACACCACTAACTGTGGACCCAAATGGAAACTTTGAGGCCCCTTACAGGTCCCCCAGCGCAGGCCACCGCCGAAGGTTACTGGGGAAGACCCCTGCAGCTTCCATGTGGACATTACTCGCTTGCTTCATCCCGGAGTGCAGTCACCTGCAGCCTGGGACCACCTGACTGATGTCACCCTGGAGATCCATGCCAAAAGAGCTGGGGAAAGTTCACCTTCTAATGACCCCTGCGGACCAGGGTGAAGTTACAAGTTATGGCCAGGTCAAGGAATTATAAGTCAATAAATAAACTGCCTCAGGGAGACGTACTCAGAGTCCAGGAAAATCTAGGAAACACCAAGAAGGGCGAGCGCAGCATCAGCCCCTGCAAAATTGCACTGCTGCCTCCTGGCTCACATGTTGCCCCATCCTTACTTTAGCCTCAAAGGCAAGGAGACCCAATATTATTTGAGTACTTGGATTTGATCCTGAGTGACTTTCTGAGAAAGCAGTGTATCATCTGCCCTAAGATCACCACATATATGACAAGGTTTTTGGATGAGTTGAGATTTCTAGACATTGAAACCCTCATGATGAACGTCATCCCGGGTAGCAGGGGCTAAGCCTTTCATCACCTGCTACAACAAGCTGGACATTAACTTGTATTTGAGAATTGCTCCAGGACTCTACCTTCAGATGCTGGTTAGTAGCATTGACTGGATTTATGAAATTGGATGCCAGTTAAGGAATAAGAGAATGTATTTGATTTGCCACCCTATATGGTCTGTGCAGACTGTCATGATCTCATTGAAATCCAAGAAAAGATTATGTCAGGGATGAAGCACATCACAGGTGGTTACAAGGTCACCCACCATCCAGATGGCTCAGAAAGCCAAACCTATGGGTTGACTTCTCCTCACCCTTCTGGAGAATCAGTGTGGTAGAAGAGCTTGAAAAAGTGCTGGGTGTGACGCTGCCAGAAACTAACCTCTTTGGAACTGAAGAAACTCAAAAAATTATTGGTGATATCTATGTAACAAAAGCTTTTGAAAGTCTTCTACCTCAGAACATATTCAGGCGCCTTGATAAACTTGTCAA
|
Task1_train_19436
|
Given this variant in gene F10 (coagulation factor X) on Chromosome 13, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Factor X deficiency
|
TACTTTCAATTAAATTTCAATTTCACATAAACTAGAAATACTTTCAGTGTAAGTATGTTCCAAGTATCGCATGAAGCATACATATGCGAAAAATTATTTGCTGTTTATCTGATTCAAGTCAAACTAGGTGTATTAGTCAGTTTTCACACTGCTGACACATACATACCCGAGACTGGGTAATTTATAAAGAAAAAGAGGTTGAATGAACTCACAGTTCCACGTGGCTGGGGAGGCCTCACCGTCACGGTGGAAGGCGCAAGGCACGTCTTACATGGCGGCAGCAAGACAGAGAATGAGAGAACAAGCAAAAGGGGTTTCCCCTTAGAAAACCATCAGCTCTTGTGAGACTTATTCACTTCCACCAGAACAGCATGGGGAAACCGCCCTCACGATTCAGTTACCTCCCACCAGGTCCCTCCCACAACACACGGGAAATATGGGAGCTACAGTTTGAGATGAGATTTGGGTGGGGACACAGCCAAACCTTGTTGCTGGGCATCCTGTATTTTCTCTGGCAATCCTCACTTGGACTTGAATTTTCAGCGCCCAAAACCAGAATGTCCTCTCCTACAAGCAAGAATCTCAGAGCTGCCAGCGCCCCCATGAATTCCCCCAGGTCTTCCCCCACCCCAGACCGTGTGGCGGGTGAGCCTCTGTCTAACTATAAAGAGCCAAGCGAGAGAGGGATGCACTGAGGTGGCTCTGCAATGCATGTTTGTTGAGGGCCTTCTGTGTGTCAGGCACTGAGCCGGGTGCTGTGTAGGTGGGATATGAAACCATGAAGCCTCTCTGTGACCAATACACAGAAATCTCAACCTAGTTAGGGAGCTGAGACCGAAATCCTCCCAGTCCCAGGCACTGTGTGGTTGGGGCAAGAACCTCGATGCAGGAGACCCCACCGAGGATGAGCAGGAAAAGCCTCTTGTGGGGCTGAGGAGCTGGACTTGGAGCTGCAGGCGGGGTTTTGGAGGGGTTCCTGGGCTGGGGGACCAGGGTGGGGCGCCCTGGAGGGCTCACTGGAGGGGCCCTCGCCCAGCCTGTTGAGGTTTGCGATTCTTGTTTCCTGGTTCGAGTCTTGGCAAGTGGGCCTCATCTGCATCTTTAGGAAGAATGGTTGGTGTTCGTGTCTTAGAAAGCCTGACTTTCCCTCATGTAAGCTGGATGATGAGTTGACAAATTATGCAAAAAAGAGGCAAAAACATGACCCCTTTTCTAGCCATGAATGTTTTAAGAAATGTTTTAAGACTCGGTATTGTCAGTAGTTTCATTGGTCTGTACATGTGCCCAGCCACTATCACAGGACGGGAAACTCCCCAGAGAAAAGAAAACCAAAATATGCCCGGGCTCCAAACTTGCAAGTCCAGCTCCCTAGGGACAGCATGTGGCACCCCTGTCAGTGCTTGCTCCCCTGGGACCGTGTTCCAAGTCCTGGCAGGTAGGAGACCCTTCACAGGAGCTGCCACAGGGACCCCCAGGAAGTCACCTGGGATGGAGGTGTCCGTGCACCATGGGGGACAGGCTCACACTGCTGAACCGTCGGGACACCAGGCAGGCACACCGGTTGAGGCAGATGATGTTTCTGCACAGACTGGCGTCTCCTGGTCCCAGGTAGAAATCCTGCCACAGAGACGGGAAAGGCTGCTCCCACAGGGAGCATCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGT
|
TACTTTCAATTAAATTTCAATTTCACATAAACTAGAAATACTTTCAGTGTAAGTATGTTCCAAGTATCGCATGAAGCATACATATGCGAAAAATTATTTGCTGTTTATCTGATTCAAGTCAAACTAGGTGTATTAGTCAGTTTTCACACTGCTGACACATACATACCCGAGACTGGGTAATTTATAAAGAAAAAGAGGTTGAATGAACTCACAGTTCCACGTGGCTGGGGAGGCCTCACCGTCACGGTGGAAGGCGCAAGGCACGTCTTACATGGCGGCAGCAAGACAGAGAATGAGAGAACAAGCAAAAGGGGTTTCCCCTTAGAAAACCATCAGCTCTTGTGAGACTTATTCACTTCCACCAGAACAGCATGGGGAAACCGCCCTCACGATTCAGTTACCTCCCACCAGGTCCCTCCCACAACACACGGGAAATATGGGAGCTACAGTTTGAGATGAGATTTGGGTGGGGACACAGCCAAACCTTGTTGCTGGGCATCCTGTATTTTCTCTGGCAATCCTCACTTGGACTTGAATTTTCAGCGCCCAAAACCAGAATGTCCTCTCCTACAAGCAAGAATCTCAGAGCTGCCAGCGCCCCCATGAATTCCCCCAGGTCTTCCCCCACCCCAGACCGTGTGGCGGGTGAGCCTCTGTCTAACTATAAAGAGCCAAGCGAGAGAGGGATGCACTGAGGTGGCTCTGCAATGCATGTTTGTTGAGGGCCTTCTGTGTGTCAGGCACTGAGCCGGGTGCTGTGTAGGTGGGATATGAAACCATGAAGCCTCTCTGTGACCAATACACAGAAATCTCAACCTAGTTAGGGAGCTGAGACCGAAATCCTCCCAGTCCCAGGCACTGTGTGGTTGGGGCAAGAACCTCGATGCAGGAGACCCCACCGAGGATGAGCAGGAAAAGCCTCTTGTGGGGCTGAGGAGCTGGACTTGGAGCTGCAGGCGGGGTTTTGGAGGGGTTCCTGGGCTGGGGGACCAGGGTGGGGCGCCCTGGAGGGCTCACTGGAGGGGCCCTCGCCCAGCCTGTTGAGGTTTGCGATTCTTGTTTCCTGGTTCGAGTCTTGGCAAGTGGGCCTCATCTGCATCTTTAGGAAGAATGGTTGGTGTTCGTGTCTTAGAAAGCCTGACTTTCCCTCATGTAAGCTGGATGATGAGTTGACAAATTATGCAAAAAAGAGGCAAAAACATGACCCCTTTTCTAGCCATGAATGTTTTAAGAAATGTTTTAAGACTCGGTATTGTCAGTAGTTTCATTGGTCTGTACATGTGCCCAGCCACTATCACAGGACGGGAAACTCCCCAGAGAAAAGAAAACCAAAATATGCCCGGGCTCCAAACTTGCAAGTCCAGCTCCCTAGGGACAGCATGTGGCACCCCTGTCAGTGCTTGCTCCCCTGGGACCGTGTTCCAAGTCCTGGCAGGTAGGAGACCCTTCACAGGAGCTGCCACAGGGACCCCCAGGAAGTCACCTGGGATGGAGGTGTCCGTGCACCATGGGGGACAGGCTCACACTGCTGAACCGTCGGGACACCAGGCAGGCACACCGGTTGAGGCAGATGATGTTTCTGCACAGACTGGCGTCTCCTGGTCCCAGGTAGAAATCCTGCCACAGAGACGGGAAAGGCTGCTCCCACAGGGAGCATCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGTGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGT
|
Task1_train_19437
|
A variant affecting Chromosome 13, within the gene F10 (coagulation factor X), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Factor X deficiency
|
GATGTTTCTGCACAGACTGGCGTCTCCTGGTCCCAGGTAGAAATCCTGCCACAGAGACGGGAAAGGCTGCTCCCACAGGGAGCATCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGG
|
GATGTTTCTGCACAGACTGGCGTCTCCTGGTCCCAGGTAGAAATCCTGCCACAGAGACGGGAAAGGCTGCTCCCACAGGGAGCATCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACATGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGG
|
Task1_train_19438
|
With a mutation on Chromosome 13 in gene F10 (coagulation factor X), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Factor X deficiency
|
TCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGGGTTGAAGTCTCGGCTCTGCAGGCTCCTGTGCTGCGTGGCAGGGATTTTCTCTCTGCCTAAATATCGTCTTCATAAGTAAAGGCA
|
TCTTTTCCAAAGCATGGACAGATGTGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGTGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGGGTTGAAGTCTCGGCTCTGCAGGCTCCTGTGCTGCGTGGCAGGGATTTTCTCTCTGCCTAAATATCGTCTTCATAAGTAAAGGCA
|
Task1_train_19439
|
A change on Chromosome 13 affects gene F10 (coagulation factor X). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Factor X deficiency
|
TGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGGGTTGAAGTCTCGGCTCTGCAGGCTCCTGTGCTGCGTGGCAGGGATTTTCTCTCTGCCTAAATATCGTCTTCATAAGTAAAGGCAAGTGGGCTAAACCTATGTCATCTC
|
TGTCGTGTGCATGAGACTTTAGAGAGCTCTGTGATGGAGTTGGTAGAAAGAAGAGATGACTCCCTATATCAGTGAGTGTGTGGCACAGGCAGAGAAAAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGCCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGGGTTGAAGTCTCGGCTCTGCAGGCTCCTGTGCTGCGTGGCAGGGATTTTCTCTCTGCCTAAATATCGTCTTCATAAGTAAAGGCAAGTGGGCTAAACCTATGTCATCTC
|
Task1_train_19440
|
Gene F10 (coagulation factor X) on Chromosome 13 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Hereditary factor X deficiency disease
|
AAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCGGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGGGTTGAAGTCTCGGCTCTGCAGGCTCCTGTGCTGCGTGGCAGGGATTTTCTCTCTGCCTAAATATCGTCTTCATAAGTAAAGGCAAGTGGGCTAAACCTATGTCATCTCCGTGTTAACTCAGAATAGTCTAGGCCTGGGCCAGGGGACACTTTGTGATCTGAGACCCCCAGAATTCCCTGAGGGAGGCCCAGCTCTGTTTCGGGA
|
AAGAGACAGACAAGGAACTGTCCTTGGGTGGATGGCAGGAGACCGAAGAGGACAGCTTGGCATGGGGAGGGCCGGGCAGTGCCACCTGAAGAGCTGGCTTCTCAGTCAGGCAACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGGGGCACCGTCACTGTCTGCTTTTCAGAAACCACTAAAGCTGATGGAATTTGTTGGGAACACTGGTTGAAATCCTGAAATCCTATTTGTAGGGGTTAGGGGCATTTCACAGAGGAAGAAGATGAGGAAGCAGAGGAAGGGGAAGAGTGGGGAGGAGGACGGGGAGGGGAGGCGAACCAGCCCAGCCCTTCTCCCACTGGGTGTCCAGGTCTCGGGTCTCCGAGTCTCTGGGTCCCGGGTCTCTGGGTCTGCATGTCCAGCTAATGTTCTGTGTCTCAGTGTCTTTTATTGGGAGCCTTCCAGACCTCCCTTTCTCTTTAACATACTCTGAACACCAAGCACCTCTGTCTCTTCTATTTTTATTTGTGGGATTGTTTCATTAACATCTGTCTTTGTCCACTAGACCCTAGAGCTGCTCAGTACAAACCCAACACAAGCTACAAATGCAAGCAATATATGTAAACTGATATTTTTCTAACATTAAATGTTCTATTATACATTTTAAAATATAAAAAAACAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAGCATGGCGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCCGGGCATGGTGGCACGGGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCCGGGCAACAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAATATATATATATATATATGTATATATATATGTGTATATATATATACATATATATACACACACACACACAATTTCCATAATATATCTTATTTAACTCAACATATTGAAAATATTACTTTTTCCATGTGTAATCATGTTAAAGGTGTAATAACACATTCCGCACATTTTCTTTCATGCTAAGTCTCTATTTTACGTTCATGGCACAACTATTTTACACTCTCAGCCAGCGGCCACACCGCACAACCTGGGTCTGGGATGCCAAAAGCCTTCGGTCCTGGGACGCCTCGTTGGTGCCCACGACTGGCACAGACGATGCACCCGCCAAAGGACACAGGAGTGGCGGCCGTCTAAAGAACCAAACGTGTGAGACAGGACCAGTGGTTCCCTGGGCAGCAAGGCTGACAGGCACTTTTATTTGCTGCTTTGCACTTCCCTCTATTTTTCAAATTTTCAAAAGTGATCACGTGCCATTTTTAATTTAAAAAAATATATATAACTTCCTTAAAAAGCAACGGATGTGCGAGAGCATGTCCCTGGCTGAGCTGAGCACAGTCCCACTCGTCTGTCCCAGGGGACCGGAACACGGAGCAGGAGGAGGGCGGTGAGGCGGTGCACGAGGTGGAGGTGGTCATCAAGCACAACCGGTTCACAAAGGAGACCTATGACTTCGACATCGCCGTGCTCCGGCTCAAGACCCCCATCACCTTCCGCATGAACGTGGCGCCTGCCTGCCTCCCCGAGCGTGACTGGGCCGAGTCCACGCTGATGACGCAGAAGACGGGGATTGTGAGCGGCTTCGGGCGCACCCACGAGAAGGGCCGGCAGTCCACCAGGCTCAAGATGCTGGAGGTGCCCTACGTGGACCGCAACAGCTGCAAGCTGTCCAGCAGCTTCATCATCACCCAGAACATGTTCTGTGCCAGCTACGACACCAAGCAGGAGGATGCCTGCCAGGGGGACAGCGGGGGCCCGCACGTCACCCGCTTCAAGGACACCTACTTCGTGACAGGCATCGTCAGCTGGGGAGAGGGCTGTGCCCGTAAGGGGAAGTACGGGATCTACACCAAGGTCACCGCCTTCCTCAAGTGGATCGACAGGTCCATGAAAACCAGGGGCTTGCCCAAGGCCAAGAGCCATGCCCCGGAGGTCATAACGTCCTCTCCATTAAAGTGAGATCCCACTCAAGGCCTGGTTTGTCTCTCGATTGCCGCCTTGCCCTGGCTTCTCCCGCCCTGTTGAGGTGGGAAGGTGAAGTGTCTGTCTGGAACACCAGCTTCCGCCCTTCCCAGCTAGGCTGGGGATTCCTCCAGGGAATATTCTAGTCTGTGGGGGCAGGATGGAGGCTCCAGGGATGATACTGTGCCATGACTGCCATGGGCATTCCTTTCCCCAGATACCTTCCTGCATCTGGGTCACGCCCAGAGGCAGATGGGAGCCTGTGCAGGCCCCGTGGCGTCGGGAGGGGCCCACACGTTGGCGCAGCCTCCCCAAGACCCCCCACTTGGCCTGGTCTCTCTTGTTCCTCTTGGGAATTGGACACCTCCCCGGTGACTGCCTATGACCCGCAGACTCCCTGGGAGGGAAACGTCCAGAAAGCTTCTCATTGGGGCGGACATTTTACATTAACTTAAACAACCAGGTGCTCTTCAACTGCACGGTGCCAGGCCCCACCCCAGCTCAGGCTTGTGTGGTGGGGGCCACAGGCATCCCCCGGGCAGGTGACCTGCTCACCAGGCAGCGACCTGACCTGGCACAGTTGGCCCCCACCGTGGCCACCCTTAGAACCCCCTGTGGGCTTTAGCATGCCTGCATCCAGGCCACAGCCTGGCCACTGAAATCAGTCTCTGGAGTGAAGCTGGCCAGGAGCTTCTGGAAGCTTCTGGAGCTCCTCAGGTGCTGAGTGGTGGTGGCGTGGCAGGCGGGGCTTCGGGGGGCTCCTCCTCTCCTAGGGTCCAGATGTTTAGTCCTTGCCCTGCTGCAATCCGGCACTGTCCCTAGGCCTCAAGTTAACTGGCCATGAAAATCAAATGAACTTTCGGTAAACAGAAAAGATTCCGGACAAGGCCTGCCGTGTGTCTCCCAAACGTCTCCTGCAGTTTGCGTCTTGTGTAATGTCCCTAAGCAAAGTTCAACAGTTCTAGTACAAAAACTCCCCAAAAAAGTCATGAGCTGGGCAAAACCGTTCGTAAACAGATGTTGCGAAGTCAGGGAAAATCAAAGTGGACAGGTGTTCGACCTCCCAGAAACGGTCTGAGGAGGGGCCGGTCTCCCAGGGTGGGCGGGAGGGCATTCCTGGCCTGCCCGCTCTGAGGCCTTCTCCGTGGAGCTGGCTGTCGGGCTCCTCGCCGGCCCTTCCTGGAGAAAAGGCTTCTGCCTCGGAGCTAGCCTGCTGTTGGGCTGCGTTTCCTAGGCAGCCACGTGGTCCCCAGGGCCCCAGAGGTAAACCCTGGACTTGGATTCCCGTTTCTGGAAATCAAAGGTTGAGTGGGGTCCAGAGAGAACTCTGGGAAAATAATTACAATTGAAACCCCCCATCGCCATCACTGTCTGCACCCTGGTTCCTGCCGCACTGGGTGTCTGGTGCCCGTGCCCGTCTCAGGATAGAAAGGAAACTGGAGGCTGCAGAGAGAAGGACCTGATGGGTCGTAGCTCAGCATCTGCCGAAGCCCCATCTAGAAATAGGTTCTCGTCCTGGGAGGTGTGGGAGGGAGCCTCGGGAGGGAGACAGCAGGAGGAGAGGCCCCAGTCCTGGACACGCGCTGGGGGTTGAAGTCTCGGCTCTGCAGGCTCCTGTGCTGCGTGGCAGGGATTTTCTCTCTGCCTAAATATCGTCTTCATAAGTAAAGGCAAGTGGGCTAAACCTATGTCATCTCCGTGTTAACTCAGAATAGTCTAGGCCTGGGCCAGGGGACACTTTGTGATCTGAGACCCCCAGAATTCCCTGAGGGAGGCCCAGCTCTGTTTCGGGA
|
Task1_train_19441
|
Given this context: Chromosome 13, gene GRK1 (G protein-coupled receptor kinase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Retinal dystrophy
|
CGTTAGCAAGACACCAACAGATGTGCGAGCGAGGCTCCAGGCTCCATCGCTCCCTGATCCGCTGGCGGAGCCAGAACACAGAGCGTGGAGTGGAAAGTGTGTTTTGAATTTAGTAAAGTGTTGGGAAGCAGCCACTCAGATACTCTCGTGGACAGAGCTGATGGCTGGACACACATGTGATCTGCTTTCCCTCCTGAAGTCCCGGGACAGGGGCAGTGAAGGGATCTCGCTAAAAGTACAAACCCACGTGCTCAAAGGAGGGTGTGAGCGGCAGCGTCATGGCAGCTGGAAGACTGATGATGGGTGAGGGGAGCCGGCAGCTGACACAAGGAAGCAGAATGCTAAGCTGCTGCCAGAGCCCTGAAGCTGCACAGAACTGTCAGTGCCCAGTGCCTGGTGTCCGTGCAAAGGTGACCTTGGCAGATGAATGACTGCATGAGAGCAGCTGCACACAGAGCTGTCCCTCCGCCCTCTGTCCTGTGACGGTCCCCACAGCTGTGCCCAGACCCGTCCCTCCATCTGAGACAGTCCCTGCGGCTGTGCCCAGACCCACCCCTCCATCCCGAGACAGTTGCCACGGCTGAGCCCAGACCCGTCCTTCCATCCCGAGACAGTCCCCATGGATGCGCCCAGACCCGTCCCTCCATCCGGAGACAGTCCCCGCGGCTGCACCCAGACCCATCCCTCCATCCCAAGACAGTCCCCGCGGCTGCGCCCAAACCCGCCCCTCCATCTGGAGACAGTCCCCACGGCTGAGCCCAGACCCGTCCCTTCATCCTGACACAGTCCCCGTGGCTGCACCCAGACCCGTCCCTCCATCCCGACACAGTCCCCCAGTCCCCGTGGCTGAGCCCAGACCCGCCCCTCCATCCCGACGCAGTCCCCCAGTCCCCGCGGCTGCACCCAGACCCGTCCCTCCATCCCGACGCAGTCCCCCAGTCCCCGCGGCTGCACCCAGACCCGTCCCTCCATCCCGACACAGTCCCCCAGTCCCCGTGGCTGAGCCCAGACCCGCCCCTCCATCCCGACACAGTCCCCCAGTCCCTGCGGCTGCACCCAGACCCGTCCCTCCATCCCGACAGTCCCCCAGTCCCCGCAGCTGAGCCCAGACCCGCCCCTCCATCCCGAGACAGTCCCCGCGGCTGAGCCCAGACCTGCCCCTCTATCCTGACACAGTCTCTGCAGCTGAGACCAGACCCATCATCCCATCCTGAGGCAGTCTCCGCGGCTGCACCCAGAGCCGTCCCTCCATCCCGAGACAGTCCCCGGGGCTGAGCCCAGAGCCATCCCCCCATCCCGTGACAGCCTCTGCGGCTGCGCCCAGAGCCCTCCCTCCATCCTGAGTCCCCGTGGCTGCGCCCAGAGCCGTCCCTCCATCCTGCCACAGTCCTGTGGTTAAGGGCCTTCTTGGCAGAAGACTGGGACCGGACCACCTCTCTGGAGAGGACACAGCCATAGCACTCCTGGGTCACCGGACAACTGGAGAACAGGCCGACAGCTGAGGAAAAGGAGAGTGACCGTTGGTTGAGGCTCCCCAGGCCTCCTCTCCAACGTGGTTCCCAGAATGTGGAAGACCCGCCTTGGCATGATCTGACCAGCTCAAGAGGAAAATTCAAAAGAGAATGATGTTGGATTCTCCCCAGTAAAAGAGTCCAGGAAGGCTGCCTCAGTGCAGCTACAGTCAACAAGTCCCGCCCTGTGCCCAGCACTAGAGTGGGCATGGGGCATTTTTGGTTGTCATTTTTGGTTGTCACAGCCTGGGGGTGCTGCTGTCACCCCACAGGCAGAGTCTGGGGTGCTGCTTGGCACCCAGTAACACACAGGGCAGCCCCTCCACAAAGGATTTTCTGGCCCCAAATGTGGAGAGTGCTGAGGCCCCGGGGGGGATGCATCCCCAGAGCATCAGTCCTGCGATTCCTGGAGTGCGTGCCCACCATGGAGGTGACCACCTCTGAACCCGCAATGTCCCTTGCTGGCAGGTTTCATGGCCCCCGAGCTCCTGCAGGGCGAGGAGTACGACTTCTCCGTGGACTACTTTGCCCTGGGGGTCACCCTGTATGAGATGATTGCGGCCAGAGGACCCTTCCGAGCCCGTGGAGAGAAGGTAGGAGGCGGCCGGCAGGTGTCTCTGCAGCCACCTTGGCGCCCTGGCTCTCGATGGGGACGGGGCAGTGATGGGATCGTTACTGGGGCAGACCTGGGAGTTGTTCTGTGGGCCCTGGGGTGGGGAGGGCACAGATTCACGTGCTGGGGTCTTGCTCCTGGGCCATGCTGTTCTGTCTCAGTGGGTGACGCCCCCAGCCCCTGAGGCCTGCAGGTGGAGGGGCTGAGGGATTCCCAGTCACCCTGTGCCCCAGAGCAAGCAGACCCTCCCACCAGACAGCACGCCACCACTCAGCCTCTGAGGGCCCTGTGGGGGCCGGTCCCTCTGGTGCAGACCGGAGGAGGGAGGGCGACTTATCCCACTGTTGCCCCAGACCCTGGGCAGTGGGACAAACCACCTTTTGTGGTTTGGGGTGGAGCTTCATCCCCTGGGGACTGGCGAGGCTGAGGCTGGGGCTCTGGGGGACACGGAGTCGGCTCCCCCTCCCTGGACGGTCTTATCCATCGCTGTTGCAGAAGAGCAAGCTCCCCTTCTTCCCAGACACCAAGAACCCACAGCCCATGGTGGGCCCAGCAGCTGCTCTGAATGTCCCGGAGTGTGGACACCTAGTGGGGCTGCTGGGTCTCCCCTGAGTGCCCCCTGGGCTGCCCCGGATCCTAGGCCACCAGAACTGCAAATAGGGATAACATTGGGAGGTGCCAGTCCCTTATTCAAGACAAGTGGAGAAAAGCTGGCTTTTTCCCTGTGAGGCTGACTCAGAGCTCAGGGCTGGGGCTGCCTCTCGTTGGACGGAGGGGGTGGCCGCACGGAGCCAGAAGGCCACCGTCTCAGAGTTGCATCAGGCTGCCTTGAGGTGCGGCTCTTCCCTGGCCACCCATCGCCCCCTCAATGCCACCTGGGCGATGCCCACCCCTCTCCCTTCTGACTTCCCTGGACATGTGACCTGTCCTGCCAGGACAGGTTTCAGAGCAGAGTCGTCCCAGGACCACTAGCACGCCCGTGGTCACTCTGTGTCTGTGGGACGTGGCACAGGCGTGGGCTGCCAGGGCAACCCGTGGGAGTAGCGTCAATGGCCTGATCCGGGGGCCTTGGGGACTGAGCAGCACCCTTCACACTGTACCCACTGGTGGGGCCTCTGATGGGGAAGTGAGACCTTGGCAGCACTCCTGAAGACAACAGAGCCACCGAGGCTTCCGTCCACCGTGGTGGAGTGAAAACGGAGGCTGCTTCTCAGCTGGGCCCGCGCTGGCCTTCAGTTTCCTATCTTTCCTTCCTTGGTGGGTGCGGCTGTGCTGGGGGTGGGTCAGCCAGAGTCCCCAAAATGCACGGCACCCACCTGTGGCTCCTGGGAGCTTCGCCTTTAGGATTCCATTCCTGAGACTGGAGCCTCAAACGCTGCTGTGCTGGGGAGGGGCACAAGGCCTCATGGGTCCCCCACCCGCGTGGGTGAGCGGTGGCTCTTGTGGGAGGAGCTGTGGTCTGGTCTGACCACCCAAGAGAGGCGGGTCTGGCAGGGCTAAGGCTACGCGTGTCCCCACAGGTGGAGAACAAGGAGCTGAAGCACCGGATCATCTCAGAGCCCGTGAAGTACCCTGATAAGTTCAGCCAGGCCAGCAAGGACTTCTGCGAGGCGCTGCTGGAGAAGGACCCGGAGAAGCGCCTGGGGTTCAGAGATGAGACCTGCGACAAGCTCCGTGCCCACCCCCTCTTCAAGGACCTTAACTGGAGGCAGCTGGAGGCTGGTACTGTTGGACGCCTCAGCCCCGGAGAGGGTGGGGTTCTGTGCTGTGTGGCCCTTGGGTGTCCGCCCGGTCCAGCCTGTGAGAGTCGGCAGGGAGGAGTGCCTCAGACCCCCAAGGCTCTCCCTCTGCCCCCAGCAAGGCCCCCAGTCCTCCACTCATCATCCCAGCCCCAGGACAAGCCGATGGAGCCGGCATCGGGCCAGAGGGCTCTGGGTGCAATGGGAGGCAGGAAACACACTGGCCGCACTGG
|
CGTTAGCAAGACACCAACAGATGTGCGAGCGAGGCTCCAGGCTCCATCGCTCCCTGATCCGCTGGCGGAGCCAGAACACAGAGCGTGGAGTGGAAAGTGTGTTTTGAATTTAGTAAAGTGTTGGGAAGCAGCCACTCAGATACTCTCGTGGACAGAGCTGATGGCTGGACACACATGTGATCTGCTTTCCCTCCTGAAGTCCCGGGACAGGGGCAGTGAAGGGATCTCGCTAAAAGTACAAACCCACGTGCTCAAAGGAGGGTGTGAGCGGCAGCGTCATGGCAGCTGGAAGACTGATGATGGGTGAGGGGAGCCGGCAGCTGACACAAGGAAGCAGAATGCTAAGCTGCTGCCAGAGCCCTGAAGCTGCACAGAACTGTCAGTGCCCAGTGCCTGGTGTCCGTGCAAAGGTGACCTTGGCAGATGAATGACTGCATGAGAGCAGCTGCACACAGAGCTGTCCCTCCGCCCTCTGTCCTGTGACGGTCCCCACAGCTGTGCCCAGACCCGTCCCTCCATCTGAGACAGTCCCTGCGGCTGTGCCCAGACCCACCCCTCCATCCCGAGACAGTTGCCACGGCTGAGCCCAGACCCGTCCTTCCATCCCGAGACAGTCCCCATGGATGCGCCCAGACCCGTCCCTCCATCCGGAGACAGTCCCCGCGGCTGCACCCAGACCCATCCCTCCATCCCAAGACAGTCCCCGCGGCTGCGCCCAAACCCGCCCCTCCATCTGGAGACAGTCCCCACGGCTGAGCCCAGACCCGTCCCTTCATCCTGACACAGTCCCCGTGGCTGCACCCAGACCCGTCCCTCCATCCCGACACAGTCCCCCAGTCCCCGTGGCTGAGCCCAGACCCGCCCCTCCATCCCGACGCAGTCCCCCAGTCCCCGCGGCTGCACCCAGACCCGTCCCTCCATCCCGACGCAGTCCCCCAGTCCCCGCGGCTGCACCCAGACCCGTCCCTCCATCCCGACACAGTCCCCCAGTCCCCGTGGCTGAGCCCAGACCCGCCCCTCCATCCCGACACAGTCCCCCAGTCCCTGCGGCTGCACCCAGACCCGTCCCTCCATCCCGACAGTCCCCCAGTCCCCGCAGCTGAGCCCAGACCCGCCCCTCCATCCCGAGACAGTCCCCGCGGCTGAGCCCAGACCTGCCCCTCTATCCTGACACAGTCTCTGCAGCTGAGACCAGACCCATCATCCCATCCTGAGGCAGTCTCCGCGGCTGCACCCAGAGCCGTCCCTCCATCCCGAGACAGTCCCCGGGGCTGAGCCCAGAGCCATCCCCCCATCCCGTGACAGCCTCTGCGGCTGCGCCCAGAGCCCTCCCTCCATCCTGAGTCCCCGTGGCTGCGCCCAGAGCCGTCCCTCCATCCTGCCACAGTCCTGTGGTTAAGGGCCTTCTTGGCAGAAGACTGGGACCGGACCACCTCTCTGGAGAGGACACAGCCATAGCACTCCTGGGTCACCGGACAACTGGAGAACAGGCCGACAGCTGAGGAAAAGGAGAGTGACCGTTGGTTGAGGCTCCCCAGGCCTCCTCTCCAACGTGGTTCCCAGAATGTGGAAGACCCGCCTTGGCATGATCTGACCAGCTCAAGAGGAAAATTCAAAAGAGAATGATGTTGGATTCTCCCCAGTAAAAGAGTCCAGGAAGGCTGCCTCAGTGCAGCTACAGTCAACAAGTCCCGCCCTGTGCCCAGCACTAGAGTGGGCATGGGGCATTTTTGGTTGTCATTTTTGGTTGTCACAGCCTGGGGGTGCTGCTGTCACCCCACAGGCAGAGTCTGGGGTGCTGCTTGGCACCCAGTAACACACAGGGCAGCCCCTCCACAAAGGATTTTCTGGCCCCAAATGTGGAGAGTGCTGAGGCCCCGGGGGGGATGCATCCCCAGAGCATCAGTCCTGCGATTCCTGGAGTGCGTGCCCACCATGGAGGTGACCACCTCTGAACCCGCAATGTCCCTTGCTGGCAGGTTTCATGGCCCCCGAGCTCCTGCAGGGCGAGGAGTACGACTTCTCCGTGGACTACTTTGCCCTGGGGGACACCCTGTATGAGATGATTGCGGCCAGAGGACCCTTCCGAGCCCGTGGAGAGAAGGTAGGAGGCGGCCGGCAGGTGTCTCTGCAGCCACCTTGGCGCCCTGGCTCTCGATGGGGACGGGGCAGTGATGGGATCGTTACTGGGGCAGACCTGGGAGTTGTTCTGTGGGCCCTGGGGTGGGGAGGGCACAGATTCACGTGCTGGGGTCTTGCTCCTGGGCCATGCTGTTCTGTCTCAGTGGGTGACGCCCCCAGCCCCTGAGGCCTGCAGGTGGAGGGGCTGAGGGATTCCCAGTCACCCTGTGCCCCAGAGCAAGCAGACCCTCCCACCAGACAGCACGCCACCACTCAGCCTCTGAGGGCCCTGTGGGGGCCGGTCCCTCTGGTGCAGACCGGAGGAGGGAGGGCGACTTATCCCACTGTTGCCCCAGACCCTGGGCAGTGGGACAAACCACCTTTTGTGGTTTGGGGTGGAGCTTCATCCCCTGGGGACTGGCGAGGCTGAGGCTGGGGCTCTGGGGGACACGGAGTCGGCTCCCCCTCCCTGGACGGTCTTATCCATCGCTGTTGCAGAAGAGCAAGCTCCCCTTCTTCCCAGACACCAAGAACCCACAGCCCATGGTGGGCCCAGCAGCTGCTCTGAATGTCCCGGAGTGTGGACACCTAGTGGGGCTGCTGGGTCTCCCCTGAGTGCCCCCTGGGCTGCCCCGGATCCTAGGCCACCAGAACTGCAAATAGGGATAACATTGGGAGGTGCCAGTCCCTTATTCAAGACAAGTGGAGAAAAGCTGGCTTTTTCCCTGTGAGGCTGACTCAGAGCTCAGGGCTGGGGCTGCCTCTCGTTGGACGGAGGGGGTGGCCGCACGGAGCCAGAAGGCCACCGTCTCAGAGTTGCATCAGGCTGCCTTGAGGTGCGGCTCTTCCCTGGCCACCCATCGCCCCCTCAATGCCACCTGGGCGATGCCCACCCCTCTCCCTTCTGACTTCCCTGGACATGTGACCTGTCCTGCCAGGACAGGTTTCAGAGCAGAGTCGTCCCAGGACCACTAGCACGCCCGTGGTCACTCTGTGTCTGTGGGACGTGGCACAGGCGTGGGCTGCCAGGGCAACCCGTGGGAGTAGCGTCAATGGCCTGATCCGGGGGCCTTGGGGACTGAGCAGCACCCTTCACACTGTACCCACTGGTGGGGCCTCTGATGGGGAAGTGAGACCTTGGCAGCACTCCTGAAGACAACAGAGCCACCGAGGCTTCCGTCCACCGTGGTGGAGTGAAAACGGAGGCTGCTTCTCAGCTGGGCCCGCGCTGGCCTTCAGTTTCCTATCTTTCCTTCCTTGGTGGGTGCGGCTGTGCTGGGGGTGGGTCAGCCAGAGTCCCCAAAATGCACGGCACCCACCTGTGGCTCCTGGGAGCTTCGCCTTTAGGATTCCATTCCTGAGACTGGAGCCTCAAACGCTGCTGTGCTGGGGAGGGGCACAAGGCCTCATGGGTCCCCCACCCGCGTGGGTGAGCGGTGGCTCTTGTGGGAGGAGCTGTGGTCTGGTCTGACCACCCAAGAGAGGCGGGTCTGGCAGGGCTAAGGCTACGCGTGTCCCCACAGGTGGAGAACAAGGAGCTGAAGCACCGGATCATCTCAGAGCCCGTGAAGTACCCTGATAAGTTCAGCCAGGCCAGCAAGGACTTCTGCGAGGCGCTGCTGGAGAAGGACCCGGAGAAGCGCCTGGGGTTCAGAGATGAGACCTGCGACAAGCTCCGTGCCCACCCCCTCTTCAAGGACCTTAACTGGAGGCAGCTGGAGGCTGGTACTGTTGGACGCCTCAGCCCCGGAGAGGGTGGGGTTCTGTGCTGTGTGGCCCTTGGGTGTCCGCCCGGTCCAGCCTGTGAGAGTCGGCAGGGAGGAGTGCCTCAGACCCCCAAGGCTCTCCCTCTGCCCCCAGCAAGGCCCCCAGTCCTCCACTCATCATCCCAGCCCCAGGACAAGCCGATGGAGCCGGCATCGGGCCAGAGGGCTCTGGGTGCAATGGGAGGCAGGAAACACACTGGCCGCACTGG
|
Task1_train_19442
|
Gene TTC5 (tetratricopeptide repeat domain 5) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
|
ATATCCCTTTCTAATTCTTCTCAGCTCTAGGATTTGCTCTAGTAAACTAAACTGTTCTCAACTATCTTTTTGCCCTTCAACTCGTCAAATATACAAACCCCTAGAAAATGCCATGGAGAAAGCTTGGGCATATAATGGGAATTGTGAATATTTCTGTTTAGATGAACAGAAAGGATGTGAAAAGCAATAGTGAGAGATAAGTCAGAATGTTTTGGAACCATGCAATAGAAGTTGCTGGATCCAGTGCCTAGAAAGACAATGGTGATCCTAGGAAAATAACAATTTCAGTAGAAAAGAGAAAGGGGAAACCGGTCAACCAGGGATTAGGAAGTGAGTGAAGGACCAAGGAGTGGTGGCATTCACTAAACCGTAACTTTTCAAGATCCAAAAATTTTCTAAACAAATATTCTTAATTCATTTCCTCTGCTGCTAGAAGCACCTGCACCTGGGTCCTTTACATTTCTTTTTTCTCACTCCCTATGACACATATATTACACACTCAATAAATATTTGTTGAATGACATCTAAGACAATCTCCCAACCAGACTTTAAATTATAACTCAAAGCTCACTTTTCAGAACTAAGTATACCTAAGTACAAACAGGACTAAGAAATTTGTCCTCCTTCAACTTCTATGATCATGAAAATGCAAAGGGACAGAAGAATTTTGAGGTTTCTGTCTTATAAAAAAATATGTCCTGCCAAATTTCAACTATGGATATAGGAATCCACATAGCACCAAACTCAGGGATACAAAATGGGCAGTGACAGAATCTACAAAAGCCTCTGATCAAAAGATGGTTAAACATCACCCAGACAATATCTGCCCACGGGATAGTCACAGAAGGAAATCAGAAGTCACAAATCTGTGACCACTGACAATCTCCTCAACTGCCAGGGAAAGAACAGGAAGTGAGAGCAATTAGTTCAAAAGGGTAAAATGGGGGAAATCCAAGAGAAACTCACAAGGGGACTTTCTCCTCTGTGGTGAGGCTAAATACCACCTTTCCCAGGATGACGGCACCGCTGTTCACCCCAGGCTGAAGCGTACTCAGTGGCTTGAGCTCCAGGGTCACTTTCTGCCCAGAGGCTGACTGATAGTGCCCATCACTGCAAGGGCCTAGATGGGCTGGGCGCAAGCTTCCCAGCATGCTCTGCAGCTTTTTGGTCTTCACCTTTCCCTGCAAAGAAGGGGAAATAGGTAAGAAGCTGGAAACTAGTCGCCTTCCTTGAGATTCTAATCCTTCCCTCCCACCCACTTCTATAGGGTCTCTACCTCGTAAACCTATTTATTCTTATTTTATTGACCCACGACAAAATAAAAAAAAAAAAAGTGGAATTCAGCCCTTCAGACATTTTTACCTTACTCTCAAGGAGGCTGGTTAATCTATCCAGGAATTCCAGAAGTTGTTGCTCTCGTTGCCGGGGCTCTGGCCAGGCAGGGTCCAGGGCTGCAGCCCGAGAGAAGCCCTCCAGGGCCTCCCCATAACTCTCTTCATATTTATGCAACTGTACAAGAAGTGTATCCCAATTATAAGTATATCCAGACAAACTATCCCGAGGGAATGGCACCATGGGCTAGGAATCTAGAGAAATAAACTGTTTTCCTTCCTGGTTATTTTCCTGTGCTGCAACAAACAGCCTGAAGAGCTGGTAACACCTTACATCCTTCTTCCTAGCCAAGATGATCACAACCCCAAAGATGGAATCATTTCAAAGAAGCTAATTTCCAAACTCTAAAATAGTTAAGTTGTATATATTGGCTCACTTGACCTTTATATTTACTTAACATTTCAGAAGTCTTCTAAAAGATCCCCCCATTCTCTACCTATTCTTCCACCTCCACAGCCCCTTCTCCTTTCCCTCCAGTGACTACACCAGATACTGAAGCCAAACCGAGCTAGCTATTTATAGAAATAGCATGGCTTTCCTCTCGCAGTCTGTACCCAATCTTGTCCCTATGCAAACTCAGTTATCCTCACAAGCTAAGACATAGGTGTCTTATTTATTTGACCCTCAGATGACTACACCCCAAAGGTCTTACCGTCGCCCTGTTCAGATGAAGGTCAGGATTGCTAGAAGCTTTTCTGTCAACTTTCTCCTATAATGGGATGAAAAGATTATCAGTGGATCCTGTCTCAATGTTAAGGACTGACATGCCCAACATGTCCTACGCCTCCTCTTTCTAGAGAAATGGAAGTTTCTTCCTTGCCAAAATGGTATTTATACCACAGAAGCAGTTACCGTATAACAGTGTGGATATCTTAGTCCCAAAACCTTAGGGATATAAGTGTTTTTGTATGTGTGAGACTTCAAAATATTATTATAATTTATCCATGTAGTAGTATTAAGATAGAATAAATCTTTATATAAATGAAATATGTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAAGCCAAGGCTGGCAGATCACCTGAGGTCAGGAGCTCAAGACCAGACTGGCCAACCTGGTGAAACACTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTAGAATTGTTTTAACATGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTTCATCTCAAAAAAAATAAATAAATGAATGAAATAGGTGAAATCATTTTGATTTTTAAAAATTTAAATAGTGAAGTGCTGGTAATAAATGAAGAAAGGCTAGGATAGAAATGGTGTTCATTTAATGCATTTCCTCTGCCCATAAACCTAGCTCCAGACACATGCGGAATCATGTTTCTACATCCAAGTTCCCTTAAAACACAGATAGAAAACCAAATTCAGACTCTAACTAAAATAGATGGCCAGGAAAAGAATTTTTTTTAAACAGATAAAATAGATGGCCAGACACCACAAGACAGTGCAGACCATGTGCTGTGAAGCAACTGCTGGCTATGTTCATGACTATGCTTATTATATTTTTTTAATTCTCTTCATTACCTGGCGCATTGTAAAAGCACAAACAACATGAATTAAAATTGTTTAAATGGTTGGTTCAGATATGTTTACAAATGCAGGTCTGGGCGAAAAACTTCAGATTAAAAAGAGATGACCAGGCACGGTGGCTCACACTTGTAATCCCAACACTTTGGGAGACCGAGGCGGATGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGGCGGGCATGGTGTGGCACGTGCCTGTAATACCAGCTACTTGAGAGACTGAGGCAGGAGACTCACTTGAACCTGGGACACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAATGAGACTCCGTCTCAAAAAAAAAAAAAGATTAAAAAGTGACTATTTAGCAGAAGCCAAATATAAAATGTTGAAGGAATATACCACACTATTCTTTAAAATGTAAACATTCACCAAATTAAGAAATTAGAGTAAAATATAATTGCTCTAAAAGTTCCGTGATTGAAAAAGGGCAGTTTAAAGTCAAAGGTAGAGTTGTGGGGAGAGTGGCAGGAGGGGGAGAAAAACCAATTTAAAAGGGCAGTCCCTGAATTGCAAACATGAACATACAGTAACTGTGTTCTTTATTCTACCACAGGGAGCAGAATAAGTAATGATAAGTTAAAAAGCAATTCTCTATATCAAGAGAAGCAAAAGAAGAAAGGTAAATATGAGAGCTAAATAAAAAGTGCTCAGAGGACCAATGTGAAGTCAGAAGCCAATTCTAATAATGAGAAAAAAGGCACTCAAAGTCTGAGGGAAAGCCCTATGCAAATGCCTATCAACATAAAAATGCTTGAAAACCTAAATAAATTTCTTGAAAACCTAAATAACCTAATTCACTTAATTCCTAGGAAATGACACAGAACAAGCTACACATTGTTTTCTCTTTTAGCCCATGGGAAATCCAGAGCCATAATATTACCTAACGGTTAATTTGGGGATAGCACTTAATTTACACTGAAGTATAAGTTTTCATTATTCT
|
ATATCCCTTTCTAATTCTTCTCAGCTCTAGGATTTGCTCTAGTAAACTAAACTGTTCTCAACTATCTTTTTGCCCTTCAACTCGTCAAATATACAAACCCCTAGAAAATGCCATGGAGAAAGCTTGGGCATATAATGGGAATTGTGAATATTTCTGTTTAGATGAACAGAAAGGATGTGAAAAGCAATAGTGAGAGATAAGTCAGAATGTTTTGGAACCATGCAATAGAAGTTGCTGGATCCAGTGCCTAGAAAGACAATGGTGATCCTAGGAAAATAACAATTTCAGTAGAAAAGAGAAAGGGGAAACCGGTCAACCAGGGATTAGGAAGTGAGTGAAGGACCAAGGAGTGGTGGCATTCACTAAACCGTAACTTTTCAAGATCCAAAAATTTTCTAAACAAATATTCTTAATTCATTTCCTCTGCTGCTAGAAGCACCTGCACCTGGGTCCTTTACATTTCTTTTTTCTCACTCCCTATGACACATATATTACACACTCAATAAATATTTGTTGAATGACATCTAAGACAATCTCCCAACCAGACTTTAAATTATAACTCAAAGCTCACTTTTCAGAACTAAGTATACCTAAGTACAAACAGGACTAAGAAATTTGTCCTCCTTCAACTTCTATGATCATGAAAATGCAAAGGGACAGAAGAATTTTGAGGTTTCTGTCTTATAAAAAAATATGTCCTGCCAAATTTCAACTATGGATATAGGAATCCACATAGCACCAAACTCAGGGATACAAAATGGGCAGTGACAGAATCTACAAAAGCCTCTGATCAAAAGATGGTTAAACATCACCCAGACAATATCTGCCCACGGGATAGTCACAGAAGGAAATCAGAAGTCACAAATCTGTGACCACTGACAATCTCCTCAACTGCCAGGGAAAGAACAGGAAGTGAGAGCAATTAGTTCAAAAGGGTAAAATGGGGGAAATCCAAGAGAAACTCACAAGGGGACTTTCTCCTCTGTGGTGAGGCTAAATACCACCTTTCCCAGGATGACGGCACCGCTGTTCACCCCAGGCTGAAGCGTACTCAGTGGCTTGAGCTCCAGGGTCACTTTCTGCCCAGAGGCTGACTGATAGTGCCCATCACTGCAAGGGCCTAGATGGGCTGGGCGCAAGCTTCCCAGCATGCTCTGCAGCTTTTTGGTCTTCACCTTTCCCTGCAAAGAAGGGGAAATAGGTAAGAAGCTGGAAACTAGTCGCCTTCCTTGAGATTCTAATCCTTCCCTCCCACCCACTTCTATAGGGTCTCTACCTCGTAAACCTATTTATTCTTATTTTATTGACCCACGACAAAATAAAAAAAAAAAAAGTGGAATTCAGCCCTTCAGACATTTTTACCTTACTCTCAAGGAGGCTGGTTAATCTATCCAGGAATTCCAGAAGTTGTTGCTCTCGTTGCCGGGGCTCTGGCCAGGCAGGGTCCAGGGCTGCAGCCCGAGAGAAGCCCTCCAGGGCCTCCCCATAACTCTCTTCATATTTATGCAACTGTACAAGAAGTGTATCCCAATTATAAGTATATCCAGACAAACTATCCCGAGGGAATGGCACCATGGGCTAGGAATCTAGAGAAATAAACTGTTTTCCTTCCTGGTTATTTTCCTGTGCTGCAACAAACAGCCTGAAGAGCTGGTAACACCTTACATCCTTCTTCCTAGCCAAGATGATCACAACCCCAAAGATGGAATCATTTCAAAGAAGCTAATTTCCAAACTCTAAAATAGTTAAGTTGTATATATTGGCTCACTTGACCTTTATATTTACTTAACATTTCAGAAGTCTTCTAAAAGATCCCCCCATTCTCTACCTATTCTTCCACCTCCACAGCCCCTTCTCCTTTCCCTCCAGTGACTACACCAGATACTGAAGCCAAACCGAGCTAGCTATTTATAGAAATAGCATGGCTTTCCTCTCGCAGTCTGTACCCAATCTTGTCCCTATGCAAACTCAGTTATCCTCACAAGCTAAGACATAGGTGTCTTATTTATTTGACCCTCAGATGACTACACCCCAAAGGTCTTACCGTCACCCTGTTCAGATGAAGGTCAGGATTGCTAGAAGCTTTTCTGTCAACTTTCTCCTATAATGGGATGAAAAGATTATCAGTGGATCCTGTCTCAATGTTAAGGACTGACATGCCCAACATGTCCTACGCCTCCTCTTTCTAGAGAAATGGAAGTTTCTTCCTTGCCAAAATGGTATTTATACCACAGAAGCAGTTACCGTATAACAGTGTGGATATCTTAGTCCCAAAACCTTAGGGATATAAGTGTTTTTGTATGTGTGAGACTTCAAAATATTATTATAATTTATCCATGTAGTAGTATTAAGATAGAATAAATCTTTATATAAATGAAATATGTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAAGCCAAGGCTGGCAGATCACCTGAGGTCAGGAGCTCAAGACCAGACTGGCCAACCTGGTGAAACACTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTAGAATTGTTTTAACATGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTTCATCTCAAAAAAAATAAATAAATGAATGAAATAGGTGAAATCATTTTGATTTTTAAAAATTTAAATAGTGAAGTGCTGGTAATAAATGAAGAAAGGCTAGGATAGAAATGGTGTTCATTTAATGCATTTCCTCTGCCCATAAACCTAGCTCCAGACACATGCGGAATCATGTTTCTACATCCAAGTTCCCTTAAAACACAGATAGAAAACCAAATTCAGACTCTAACTAAAATAGATGGCCAGGAAAAGAATTTTTTTTAAACAGATAAAATAGATGGCCAGACACCACAAGACAGTGCAGACCATGTGCTGTGAAGCAACTGCTGGCTATGTTCATGACTATGCTTATTATATTTTTTTAATTCTCTTCATTACCTGGCGCATTGTAAAAGCACAAACAACATGAATTAAAATTGTTTAAATGGTTGGTTCAGATATGTTTACAAATGCAGGTCTGGGCGAAAAACTTCAGATTAAAAAGAGATGACCAGGCACGGTGGCTCACACTTGTAATCCCAACACTTTGGGAGACCGAGGCGGATGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGGCGGGCATGGTGTGGCACGTGCCTGTAATACCAGCTACTTGAGAGACTGAGGCAGGAGACTCACTTGAACCTGGGACACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAATGAGACTCCGTCTCAAAAAAAAAAAAAGATTAAAAAGTGACTATTTAGCAGAAGCCAAATATAAAATGTTGAAGGAATATACCACACTATTCTTTAAAATGTAAACATTCACCAAATTAAGAAATTAGAGTAAAATATAATTGCTCTAAAAGTTCCGTGATTGAAAAAGGGCAGTTTAAAGTCAAAGGTAGAGTTGTGGGGAGAGTGGCAGGAGGGGGAGAAAAACCAATTTAAAAGGGCAGTCCCTGAATTGCAAACATGAACATACAGTAACTGTGTTCTTTATTCTACCACAGGGAGCAGAATAAGTAATGATAAGTTAAAAAGCAATTCTCTATATCAAGAGAAGCAAAAGAAGAAAGGTAAATATGAGAGCTAAATAAAAAGTGCTCAGAGGACCAATGTGAAGTCAGAAGCCAATTCTAATAATGAGAAAAAAGGCACTCAAAGTCTGAGGGAAAGCCCTATGCAAATGCCTATCAACATAAAAATGCTTGAAAACCTAAATAAATTTCTTGAAAACCTAAATAACCTAATTCACTTAATTCCTAGGAAATGACACAGAACAAGCTACACATTGTTTTCTCTTTTAGCCCATGGGAAATCCAGAGCCATAATATTACCTAACGGTTAATTTGGGGATAGCACTTAATTTACACTGAAGTATAAGTTTTCATTATTCT
|
Task1_train_19443
|
This variant lies on Chromosome 14 and affects the gene TTC5 (tetratricopeptide repeat domain 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
|
TCCCAGCACTTTGGAAAGCCAAGGCTGGCAGATCACCTGAGGTCAGGAGCTCAAGACCAGACTGGCCAACCTGGTGAAACACTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTAGAATTGTTTTAACATGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTTCATCTCAAAAAAAATAAATAAATGAATGAAATAGGTGAAATCATTTTGATTTTTAAAAATTTAAATAGTGAAGTGCTGGTAATAAATGAAGAAAGGCTAGGATAGAAATGGTGTTCATTTAATGCATTTCCTCTGCCCATAAACCTAGCTCCAGACACATGCGGAATCATGTTTCTACATCCAAGTTCCCTTAAAACACAGATAGAAAACCAAATTCAGACTCTAACTAAAATAGATGGCCAGGAAAAGAATTTTTTTTAAACAGATAAAATAGATGGCCAGACACCACAAGACAGTGCAGACCATGTGCTGTGAAGCAACTGCTGGCTATGTTCATGACTATGCTTATTATATTTTTTTAATTCTCTTCATTACCTGGCGCATTGTAAAAGCACAAACAACATGAATTAAAATTGTTTAAATGGTTGGTTCAGATATGTTTACAAATGCAGGTCTGGGCGAAAAACTTCAGATTAAAAAGAGATGACCAGGCACGGTGGCTCACACTTGTAATCCCAACACTTTGGGAGACCGAGGCGGATGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGGCGGGCATGGTGTGGCACGTGCCTGTAATACCAGCTACTTGAGAGACTGAGGCAGGAGACTCACTTGAACCTGGGACACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAATGAGACTCCGTCTCAAAAAAAAAAAAAGATTAAAAAGTGACTATTTAGCAGAAGCCAAATATAAAATGTTGAAGGAATATACCACACTATTCTTTAAAATGTAAACATTCACCAAATTAAGAAATTAGAGTAAAATATAATTGCTCTAAAAGTTCCGTGATTGAAAAAGGGCAGTTTAAAGTCAAAGGTAGAGTTGTGGGGAGAGTGGCAGGAGGGGGAGAAAAACCAATTTAAAAGGGCAGTCCCTGAATTGCAAACATGAACATACAGTAACTGTGTTCTTTATTCTACCACAGGGAGCAGAATAAGTAATGATAAGTTAAAAAGCAATTCTCTATATCAAGAGAAGCAAAAGAAGAAAGGTAAATATGAGAGCTAAATAAAAAGTGCTCAGAGGACCAATGTGAAGTCAGAAGCCAATTCTAATAATGAGAAAAAAGGCACTCAAAGTCTGAGGGAAAGCCCTATGCAAATGCCTATCAACATAAAAATGCTTGAAAACCTAAATAAATTTCTTGAAAACCTAAATAACCTAATTCACTTAATTCCTAGGAAATGACACAGAACAAGCTACACATTGTTTTCTCTTTTAGCCCATGGGAAATCCAGAGCCATAATATTACCTAACGGTTAATTTGGGGATAGCACTTAATTTACACTGAAGTATAAGTTTTCATTATTCTTTAAAATGAATGTACAAAAATATTAATAAGTATTATTTTAATAGACTTTTTTCCCATTAAAAAAGATGAACATGTTGAGGCAGCTCTGTGATTTGGTTATATATGTGTGTAAGAAACCCAGACAGGTCAAGGAGCTATCCAGCACCAATGCGACACGATGCAAGTGGTTCCTAACACTCAAGTTATAAGAAGTCAGTCATCTCTGCAGACACATCTTTGCAAAATCACAAAAATGAGATGCCAGCAAACACTGCCACTGCCCATGATGCTTGCTAAAGGGCCACAAAGAAGACTGAACAATGCTCTTGCTTCTGTTGTTGCCTATTCATCTGGCCTGGTGACCATAAGTACTTACTGCTTGGGCATAGGCACTGAGGGCTTGCTGGGAGATCTTAGGGTTCTGGCCAGTAGAGAAGTAAAGGGAAAGATATGAATTCCCAAGAATATCTGAAAGAGAAACACAGTGACAAATCATCTCAGAGTCCAAGTTCAAGATATGACTTATTTTGATCATTCTTGAAAGTATATTTGAAAGGTCCCACAAGAAATCCAAACCAGGAATGACACGATACTTAGTATACCCAAAACTCCACTAGGATAGAGCACCAAGGACACCAAACTGAAGTTTGAACAGACTGTACAAAAGCCCTTCCTTGCTTACGTGAAAACTAGGATCAAAAGATCGAAGAGTTCCTAGAAAAGTAGTTCCCCAAAATGTCTTTCGTGTGTCTTCAAAACAAAGATGCCCTCTCTGGCTTAAACCTCAGAATCACACTCAAAAGAGGGACTGCAAATGTTGCTCTGATTGAAAACATCTGCTCTAGAAACCTGTTGGAGATCTTTTGAGAGCACTCACACCAGGAGCGGCCATCATGGACATCCATCTGAACAGCCAACTTAGCCTGTCGGACACTGTCCATGACATGGTGAGAATGTTCATCTTCAGTGTCAGTCCGCAGCTGACGAAGCACCATTGACAGGTTTTGCAAGGAGACTTTGTTCCTGCACTGCAAATAGGAAGGGCACATACTCAATCTTCCTGATTCTACCTCCCCTTTCCAGATCTATTCTGAACTCAGTCTTCTAAATCTAATTTTTTACCTTTCTAAGTTTTTTGTTTTGTTTTGTTTGAGGTGGAGTCTTGCTCTGTCACCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGAGTTAAGTCTTTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGTATGCACCACCATGCCCGGCTAATTTTTATATTTTTAGTAGAGACTGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCGGGATTACAGGTGTGAGCCACCACGCCTGGCCGTATTTTTCTTTTTGTGACAGGGTCTCACTCTGATGGAGTGCAGAGGCACGATCTCAGCTCACAGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTGTGCCTTGGCCTCCTGAGTAACTGGGATTACAGGCACATACAACCATGCCCATCTAATTTTTGTATTTTTTGGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTCCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGTCTGGTCCATGTATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCTCCTGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGTGTAAGCTACCACACCCAGCCCTAATTTTTTCATCTAAATTCTTGCTGCCATCTGTATCTTCAACCCCCATCCACAGGGATCAGCTTAGCTGCTAGCTTTTCTTCACTTCCTTTCTCCCCCTGAACCTGATCCCATCATCATCTTCCTTTCCCAGGCCCCTGCCTCTATTTTCCTCATTCAGGTCTGCTCTCTGACCTTTCCTCCCTCCTGATTCTGTCCTAGTTCAATTTCAGTTCTACTCTGGTATTCATGTCCTAGGGAAACTCATAGAACCAAAGAAATTCATCCTTCCCATCTCTGCTTTCCAAAGGGATAGGGGGCAGCTCACATGGGTGAGGGCTCCTGAGAAGCAGGTGTGGGCAGCTGCAACATCCCCTTTTTTCCAGTACACCTCACCCAGCTGGTTCCAGGCTTCCACCAGCTCGGGCTCCAGCTTCACAGCCTTTGACAGAAGCTCCTCAGCCTTAGGGCTATAGTCAGGAGTCACATTTAGTGCTTTCCCAGTTAGCATTAGAACTTGTGCCTTGCCCTGGACAGAACCTAAGAGGAAGAAAAAAAGATAAAGTGGGAAAAAAA
|
TCCCAGCACTTTGGAAAGCCAAGGCTGGCAGATCACCTGAGGTCAGGAGCTCAAGACCAGACTGGCCAACCTGGTGAAACACTGTCTCTACTAAAAATACAAAACTTAGCTAGGCATGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGTAGAATTGTTTTAACATGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCGAGCCTGGGTGACAGAGTGAGACTTCATCTCAAAAAAAATAAATAAATGAATGAAATAGGTGAAATCATTTTGATTTTTAAAAATTTAAATAGTGAAGTGCTGGTAATAAATGAAGAAAGGCTAGGATAGAAATGGTGTTCATTTAATGCATTTCCTCTGCCCATAAACCTAGCTCCAGACACATGCGGAATCATGTTTCTACATCCAAGTTCCCTTAAAACACAGATAGAAAACCAAATTCAGACTCTAACTAAAATAGATGGCCAGGAAAAGAATTTTTTTTAAACAGATAAAATAGATGGCCAGACACCACAAGACAGTGCAGACCATGTGCTGTGAAGCAACTGCTGGCTATGTTCATGACTATGCTTATTATATTTTTTTAATTCTCTTCATTACCTGGCGCATTGTAAAAGCACAAACAACATGAATTAAAATTGTTTAAATGGTTGGTTCAGATATGTTTACAAATGCAGGTCTGGGCGAAAAACTTCAGATTAAAAAGAGATGACCAGGCACGGTGGCTCACACTTGTAATCCCAACACTTTGGGAGACCGAGGCGGATGGATCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATTAGGCGGGCATGGTGTGGCACGTGCCTGTAATACCAGCTACTTGAGAGACTGAGGCAGGAGACTCACTTGAACCTGGGACACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAATGAGACTCCGTCTCAAAAAAAAAAAAAGATTAAAAAGTGACTATTTAGCAGAAGCCAAATATAAAATGTTGAAGGAATATACCACACTATTCTTTAAAATGTAAACATTCACCAAATTAAGAAATTAGAGTAAAATATAATTGCTCTAAAAGTTCCGTGATTGAAAAAGGGCAGTTTAAAGTCAAAGGTAGAGTTGTGGGGAGAGTGGCAGGAGGGGGAGAAAAACCAATTTAAAAGGGCAGTCCCTGAATTGCAAACATGAACATACAGTAACTGTGTTCTTTATTCTACCACAGGGAGCAGAATAAGTAATGATAAGTTAAAAAGCAATTCTCTATATCAAGAGAAGCAAAAGAAGAAAGGTAAATATGAGAGCTAAATAAAAAGTGCTCAGAGGACCAATGTGAAGTCAGAAGCCAATTCTAATAATGAGAAAAAAGGCACTCAAAGTCTGAGGGAAAGCCCTATGCAAATGCCTATCAACATAAAAATGCTTGAAAACCTAAATAAATTTCTTGAAAACCTAAATAACCTAATTCACTTAATTCCTAGGAAATGACACAGAACAAGCTACACATTGTTTTCTCTTTTAGCCCATGGGAAATCCAGAGCCATAATATTACCTAACGGTTAATTTGGGGATAGCACTTAATTTACACTGAAGTATAAGTTTTCATTATTCTTTAAAATGAATGTACAAAAATATTAATAAGTATTATTTTAATAGACTTTTTTCCCATTAAAAAAGATGAACATGTTGAGGCAGCTCTGTGATTTGGTTATATATGTGTGTAAGAAACCCAGACAGGTCAAGGAGCTATCCAGCACCAATGCGACACGATGCAAGTGGTTCCTAACACTCAAGTTATAAGAAGTCAGTCATCTCTGCAGACACATCTTTGCAAAATCACAAAAATGAGATGCCAGCAAACACTGCCACTGCCCATGATGCTTGCTAAAGGGCCACAAAGAAGACTGAACAATGCTCTTGCTTCTGTTGTTGCCTATTCATCTGGCCTGGTGACCATAAGTACTTACTGCTTGGGCACAGGCACTGAGGGCTTGCTGGGAGATCTTAGGGTTCTGGCCAGTAGAGAAGTAAAGGGAAAGATATGAATTCCCAAGAATATCTGAAAGAGAAACACAGTGACAAATCATCTCAGAGTCCAAGTTCAAGATATGACTTATTTTGATCATTCTTGAAAGTATATTTGAAAGGTCCCACAAGAAATCCAAACCAGGAATGACACGATACTTAGTATACCCAAAACTCCACTAGGATAGAGCACCAAGGACACCAAACTGAAGTTTGAACAGACTGTACAAAAGCCCTTCCTTGCTTACGTGAAAACTAGGATCAAAAGATCGAAGAGTTCCTAGAAAAGTAGTTCCCCAAAATGTCTTTCGTGTGTCTTCAAAACAAAGATGCCCTCTCTGGCTTAAACCTCAGAATCACACTCAAAAGAGGGACTGCAAATGTTGCTCTGATTGAAAACATCTGCTCTAGAAACCTGTTGGAGATCTTTTGAGAGCACTCACACCAGGAGCGGCCATCATGGACATCCATCTGAACAGCCAACTTAGCCTGTCGGACACTGTCCATGACATGGTGAGAATGTTCATCTTCAGTGTCAGTCCGCAGCTGACGAAGCACCATTGACAGGTTTTGCAAGGAGACTTTGTTCCTGCACTGCAAATAGGAAGGGCACATACTCAATCTTCCTGATTCTACCTCCCCTTTCCAGATCTATTCTGAACTCAGTCTTCTAAATCTAATTTTTTACCTTTCTAAGTTTTTTGTTTTGTTTTGTTTGAGGTGGAGTCTTGCTCTGTCACCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTTTGCCTCCCGAGTTAAGTCTTTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGTATGCACCACCATGCCCGGCTAATTTTTATATTTTTAGTAGAGACTGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGCGCGGGATTACAGGTGTGAGCCACCACGCCTGGCCGTATTTTTCTTTTTGTGACAGGGTCTCACTCTGATGGAGTGCAGAGGCACGATCTCAGCTCACAGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTGTGCCTTGGCCTCCTGAGTAACTGGGATTACAGGCACATACAACCATGCCCATCTAATTTTTGTATTTTTTGGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCTCCCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGTCTGGTCCATGTATATATATATATTTTTTTTTTTTTTTTTTTTTTTTGTAGAGACAAGGTCTCACCATGTTGCCTAGGCTGGTCTCAAACTCCTGAGCTCAAGTGATCCTCCTGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGTGTAAGCTACCACACCCAGCCCTAATTTTTTCATCTAAATTCTTGCTGCCATCTGTATCTTCAACCCCCATCCACAGGGATCAGCTTAGCTGCTAGCTTTTCTTCACTTCCTTTCTCCCCCTGAACCTGATCCCATCATCATCTTCCTTTCCCAGGCCCCTGCCTCTATTTTCCTCATTCAGGTCTGCTCTCTGACCTTTCCTCCCTCCTGATTCTGTCCTAGTTCAATTTCAGTTCTACTCTGGTATTCATGTCCTAGGGAAACTCATAGAACCAAAGAAATTCATCCTTCCCATCTCTGCTTTCCAAAGGGATAGGGGGCAGCTCACATGGGTGAGGGCTCCTGAGAAGCAGGTGTGGGCAGCTGCAACATCCCCTTTTTTCCAGTACACCTCACCCAGCTGGTTCCAGGCTTCCACCAGCTCGGGCTCCAGCTTCACAGCCTTTGACAGAAGCTCCTCAGCCTTAGGGCTATAGTCAGGAGTCACATTTAGTGCTTTCCCAGTTAGCATTAGAACTTGTGCCTTGCCCTGGACAGAACCTAAGAGGAAGAAAAAAAGATAAAGTGGGAAAAAAA
|
Task1_train_19444
|
A variant was discovered in gene OSGEP (O-sialoglycoprotein endopeptidase), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Galloway-Mowat syndrome
|
TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAATATGACAAAAGCAAAAGAGGGGAAGGGAAATGAGGTGGATTATGGGAATTTAGCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCCGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGG
|
TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAATATGACAAAAGCAAAAGAGGGGAAGGGAAATGAGGTGGATTATGGGAATTTAGCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCTGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGG
|
Task1_train_19445
|
This variant impacts the gene OSGEP (O-sialoglycoprotein endopeptidase) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Galloway-Mowat syndrome 3
|
TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAATATGACAAAAGCAAAAGAGGGGAAGGGAAATGAGGTGGATTATGGGAATTTAGCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCCGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGG
|
TACAGATACTGGAAGATGGTTAGTTTCAGGGGCAAAAGCTTGTAAATGTATACTGATTGTTTCTATTTTCTTACTGAAATAGGAACTAAGGTAAGAGTCAGAATAGGGGGAGATGTTAAGAGATTTGAGGGGTCAGAAGGTATGAAACAGTCACTAGAAAAGAGGGCAAGTGAAAGGACTAGAGAGATGGCATATTTCTGGGTGGCATAAAGGACCCATTTTAGTGTCATGGTCGTAAGTTTGAAGTAAGATCAGTCAGCATGGCTATTTTTTACTAGCCCTTTCAGCTGCATGGGTCTAAAGTAGGTGATGAGTTGAATATGACAAAAGCAAAAGAGGGGAAGGGAAATGAGGTGGATTATGGGAATTTAGCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCTGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGG
|
Task1_train_19446
|
Assess the clinical impact of this variant on gene OSGEP (O-sialoglycoprotein endopeptidase), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Galloway-Mowat syndrome 3
|
GCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCCGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGGCTTTGGGAGAAAAACATAGCAGAGGATCAACATGACCACCAGGGCTTCCAATAAGAAGTGGAAGAAAGGTGTTTCCCAAATGGTGAATGGGTAGTTTTTACAGCTCTGATTTGAGAAGAAATCTGTATACCCTGAGGATTCCAGGAACAGATTCCTAGACAGTGTAGGTTCAGGCAGAAATAAATTGTCATTTCAAATACATTGGTTTTCCGGCTTAGAAGTTCCTAATATATCCCTTAAATGCAGTCTTGATAGTAGGTAACCGGCTTTTCTGCTTGGAGGCAGAGAACATGAATCCTTCTAAATTATGACACAGTGGCAGTGGTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTCTCCCAGGCTGGAG
|
GCTGAAGGAGGGAAATAAAAATACGTGGGGGATAAAATCTGCAGAAAGGAAGTATGATCAATGGACCGTAGGTCCTGGTGAAGGGATGAACTGTTGGATTTAGCATACTAAAGAAAATGAACTGGAAGAACAGGAGGTGGTGGTAGTCGAGAGTGGGACGTCTGAAACTGAGATGTGGAGGATCTGCAGCTCCAGAACATGACCAAGGAAATAAGTGGCTGAAGCGGGTGTTAGTATGATCTACCTGAATACTGAAATAAGATTTATGACAAACGTGGTGTTCGTATGGTAGTTTCTTTCAAAGCAGAAGGGTACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCCGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCATGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGGCTTTGGGAGAAAAACATAGCAGAGGATCAACATGACCACCAGGGCTTCCAATAAGAAGTGGAAGAAAGGTGTTTCCCAAATGGTGAATGGGTAGTTTTTACAGCTCTGATTTGAGAAGAAATCTGTATACCCTGAGGATTCCAGGAACAGATTCCTAGACAGTGTAGGTTCAGGCAGAAATAAATTGTCATTTCAAATACATTGGTTTTCCGGCTTAGAAGTTCCTAATATATCCCTTAAATGCAGTCTTGATAGTAGGTAACCGGCTTTTCTGCTTGGAGGCAGAGAACATGAATCCTTCTAAATTATGACACAGTGGCAGTGGTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTCTCCCAGGCTGGAG
|
Task1_train_19447
|
Gene OSGEP (O-sialoglycoprotein endopeptidase) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Galloway-Mowat syndrome 3
|
TACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCCGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTCGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGGCTTTGGGAGAAAAACATAGCAGAGGATCAACATGACCACCAGGGCTTCCAATAAGAAGTGGAAGAAAGGTGTTTCCCAAATGGTGAATGGGTAGTTTTTACAGCTCTGATTTGAGAAGAAATCTGTATACCCTGAGGATTCCAGGAACAGATTCCTAGACAGTGTAGGTTCAGGCAGAAATAAATTGTCATTTCAAATACATTGGTTTTCCGGCTTAGAAGTTCCTAATATATCCCTTAAATGCAGTCTTGATAGTAGGTAACCGGCTTTTCTGCTTGGAGGCAGAGAACATGAATCCTTCTAAATTATGACACAGTGGCAGTGGTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTCTCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGTAGCCTCCACCTCCTAGGCTCAAAGGATCCTCCCACCTCAGCTTCCTGAGTAGCTGGGCTACCATGTGTGGCTTATTTTTATATTTTTGTAGAGATGGGGGTCTCACTATGTTGCCCAGCCTGGTCTCAAACTCCTGGTCTCAAGCAATCTACCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGTGTGAACCACCGTATGCAGCTGGGCAGTGGTATTTAGAACCAAGAAGCAGAGCTGAAGAACTCAAAAATCTCATATGGAGTCAGACTAATGGCCCAGCC
|
TACTAGGGATGAGGGATAATGGTCTGGAAACAGTATGAGGACACGTGCACCACCTCCAGGCCCAGTGGGACACTGGGTGTGGAAGGGAAAATGCCACCACTACTGAGGTGGTAGGAGAAGCAGAGTCCTCATAAGAAACCAAGTCTGAAGAGCATAAATGTGAAGGGAACGTTCAGAGAAGAGGTTGAGGACACAGAGAATTTGACAAATGACTGGCCATCAGTTCCAGAGGGCACAGTGGAAGAGCTTCTAGAGTTGGAAAAGGTAGGTAGATGGAGACAAAACAGAGTGGAGATACATGGTTATTAAGTGTAAAAGATGAGATGACTCAGTAGTTTAGGACTAATTGTGATGATTGATATCAACATCAATAAGATTAAGGGTATGAGATTCGTTCTGTTGTTTGTGGTACGGAGGGATGTGCATCTGCGGGCATTCCTCAAGCCTGCCGATGGATGTGCATGTAGGAGAAAGTATACGGAGTAGAGGCAGTTTTAGAGTTACAAGTTAGACCAATCTCCAGGCTGTTTGTTTGTTTGTTTTTAAGAGACAAGGTTTTGTTCTGTCACTCAGGCTGGAATGCAGTGGCTCAATCACAGCTCACTGCAACCTCAAACTCCTGGGCTCAAGCTATCTTCCCGCCTCAGCCTCCCTTGGAGCTGGGACTACAGATGTGCGCCACCATGCCCAGATAATTTTTACATTTTTCAAATAGATGGTGTCTTGCTATTTGCCCAGGCTGGGCTCAAACTCCTGGGCTCAAGGGATCCTCCTGACTTGGCCTCCCACAGCACTGGGATAACAGGTGTGAGCCTCCAGGCTATTTTGAGAGAAGTCTTGCACACCTACTTCAAAGAATTTAAATGAGAGAATGAATGTAAAGCAGTTAGCACGGGACCCGATGCTATAATAATAGTTATGATACTACTATTGTTGCCAGGCACAATGGCATCCTTACTCAGGAGGCTGAGGTGGTAAGACTGCTTGAGCCCAGTTCGAGACCAGCCTGGGAAACACAGCAAGATTCCGTTTCTTAAAAAAAAAAAAAAAGATACCTCATTCTTGGTTCCACAGCAGCAAGCTCCAACAAGAATTTATCCAGCACCAAATCTACATTGGTCCTGAACAACACAATCCAATCACCAACATACAAAACCAAAAAACCAAAAATATTTTATTGCTGAGTCATCCTGGGGTTCCATAAAGGACCCCAAGCCTTGCTTGGAGTCTATAGCTTTGCTAGGACTCCCATGACATCAGGATAGAGATTGAGGCACGGGGTCCTTTGGGTTCCGATTAAGGAACTATCTACTCTGATTCTGTTGATCTTATTAGTCCCTCCAGGTCACCTCTACTTCATCTGTCCGATACCTGTGGAAAAACAGAAGAAACATGGTGGAGAGCGAGCCCTTAACATCCTTCATTCTTCTCTGCCCTCATGTTCCTGGACTCTTCCCTGCTGTTTTTGTCTATGTCCCAATAATCTACCCTCACCAAGAGGTGAATCACTCACCTCTGTGTAACCCCAGAATCACTGAGTGGGGTCCTGTGTCCAGCCCGAAACATCTCCCAGCCAGCCTGGGCTATCATCGCTCCATTGTCAATACAGAATCTGGGATGCAAGAGAGATGAAAATTGGGATCTAAGGGTGGAAAATCACTATAACAGGAGAAGTAAAAAAGAAACCAAAGGGAAAGTGTCTTTACCTCTCATCTGTAGCAAAAAGCCGGGCTCCACGTTCCTGGCACATTGTTGCCATCATCTCCTGTAGCCTCACATTACCTACAAAGAGGCAGGGAACAGGATTAGCTTAGTTTTAGCCATCTCTTCATGGTCCAGCAGAACACGTCATGTGCACTCACTTAGAACAATGACATAGGGGATTAGGGGCAAGGATTGGGAAGCCTACTCCAAACGCTTAATGATTTAGAGTACCAGGAGGAAGACGCATAGTGTTAAGAATAGGAAAGAGGAACACTTTTCAATAATACATACACCCCACTCCTCCCACAATGAGGGCCTCCTGGGAGCCACAATGTGCCATGGCTTGCTCTGTGATCTCTACCAGCATTGCAAACACAGTTTCCTGTCAGGGACAGATAAGGAGAAAATATTAGAGGGGCATCCCAGATTAGTTCTGCTCTACAATATAAAACCTTCAGCCCCAACTTTCTGTCCCAGTTTTTTACTGCATTACCTGCAGGGAGAAACACAGATCCTCAGGAGTACACTCGCCTGTGGCCAGCATCCGATGGGCTACATCCTACAATTAAAGGGAAAAACAAAAGAATCAACAAATCATGGTTTTGGGATTACACGAGAGCAAAAATTAATGCATTCGGAGGGTCATCATGTTTCACCACAATTCAAGTTACCAGCACATCCTGTACCACATTCCCTTCACTGGCATCATGGCATAGAATGAGCAGCTTTCATTTAAGATGCAATCATTACTTTTTGAATACTTGTCCTGACATCTCTCACCCCTTACTTATCCTGCTTAATTTTTCACCTGTACTCATCATCATCTGGCACTTCATTATTTTCCTCTTTCTTATCTCCCCCGCCCCCCATTTAGAATCTAAGCTCCATGTAGACAGGGATTTTTGTTTTGCTCCATGCTGCATCTCTACTATCTAGAACAGCATGTGGCACACAGAGATATTCAATGAATACCTTCTAAATGAATTTACCCAGCACATGATATGGACCAGTACTGTGCTACATGAATATACTGAGCTATACGAAATATAATCGTAAGTAAAACAGATATGCTTCATTTAAAAAGCATGAAAGTGCCCGTCTCATCACCTCTCACACTCACCTCAATGAAAGACAGGATCCCTGAGAATGAGACGTCCATCCCCTTTACAGTGTATGGCAGCTCAACTAGCTTCTTGCCTCTATGTGGGAATAAGCGTACGAGGCACTAAGCCTACAGTCAGCTGGCTTCTCACCCTCCAAAGCCCGTCCCAAATTTTGTTAATATATACCGTATATGGGGAAATCCCTGAAGCCCCAGCAGCCAGCCTGCTTCCACCTTATGTCCCCTTACCGCTTTGCCATCTGTTCAATGTTGTATCCTGGACTTGGGTCGTTAGAAATCTAGCAGAAGAAAAAAATAAGGAAGGAGGGAATGGAAGAGGATGAAATCAGATATGCAGGAAGCATAAGAAGCTCATTTACTATTTCCTCCCTCCACCTCCATGGCTTCCCAAAAATTCACCCACATTTTATGTTCTCTGCAGCCCCACTGGCTTACCTTCAGCACTCGAGCAAAACGATCCAGACAATTACCCACTGCAATATCGATGGTTTCCCCAAAGATACGGTAACGATGTTCCGAGTATGCAATCACCTAAGGGTGATGAGGAAGTCCATGAAACCCCAAGTCTGTAAAGAGGATTATTTGGCTTTGGGAGAAAAACATAGCAGAGGATCAACATGACCACCAGGGCTTCCAATAAGAAGTGGAAGAAAGGTGTTTCCCAAATGGTGAATGGGTAGTTTTTACAGCTCTGATTTGAGAAGAAATCTGTATACCCTGAGGATTCCAGGAACAGATTCCTAGACAGTGTAGGTTCAGGCAGAAATAAATTGTCATTTCAAATACATTGGTTTTCCGGCTTAGAAGTTCCTAATATATCCCTTAAATGCAGTCTTGATAGTAGGTAACCGGCTTTTCTGCTTGGAGGCAGAGAACATGAATCCTTCTAAATTATGACACAGTGGCAGTGGTAATTTTTTTTTGAGACAGGGTCTCGCTCTGTCTCCCAGGCTGGAGTGGAGTGGTGTGATCATAGCTCACTGTAGCCTCCACCTCCTAGGCTCAAAGGATCCTCCCACCTCAGCTTCCTGAGTAGCTGGGCTACCATGTGTGGCTTATTTTTATATTTTTGTAGAGATGGGGGTCTCACTATGTTGCCCAGCCTGGTCTCAAACTCCTGGTCTCAAGCAATCTACCTGCCTCAGCCTCTCAAAGTGCTGGGATTATAGGTGTGAACCACCGTATGCAGCTGGGCAGTGGTATTTAGAACCAAGAAGCAGAGCTGAAGAACTCAAAAATCTCATATGGAGTCAGACTAATGGCCCAGCC
|
Task1_train_19448
|
Consider this mutation in LOC107372315, OSGEP (OSGEP/APEX1 bi-directional promoter region| O-sialoglycoprotein endopeptidase) on Chromosome 14. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
CTCTTTCCGGCTTCTATATAGGCTATTCAACTTTCAGAAATGCTCTTCTTCTTACCCTACTCAGCCTTCAGGTCTCAATGCAAGTAGTATCTACCTCATACCCTTTCGTGATCTTTTTTTTTTTTTTTTCTTTTGAGACAGTCTCAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGAGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGACACCACCACGCTCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCTGGCCTTTGGTGATCTTCTTTCTCTGTGACCCTACAGAACTCTATGCATGATGATGTCATTTATTTAACATAACAATTACAGCATTATAATTTTCTGTGGTTTGCTCAGCTTAATCATGAATATCTCAAAGCATTGAGTATTTTATTTATCTTTGTATTCCCAGTGCCCAAGTGCCCAGAGGAGTGAATGCTAAACATACATATATATTTCTAGTGAGTATCTGTCACAACATCACCTGTTCAGGGAGGCTTTTCAGATACATGCAAGTCAGCTGCCCTCTCCTATGTATGCAAGTGTTTGAGGGGAGAGTAGCAAGATATAATAGCTTATTTAAAATATCAATTAAAAGTTGTAATGTGTTTTGTACTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGATGCCCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCACGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGTTTACAGGCATGCGCCACCACGCCCAGTTAATTTTTTGTATTTTTTAGTGGAAACATGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGTGTTTGGTACTTTCATCTAATCTTCAAGACCTAATGATACAGGTATTATTCCCATTTTAAAAACAAAGACCAGGCCCGAGCGGTGGCTCATGCCTGTAATTTCCACACTTTGGGAGGCTGGGGTGGGCGGATCATCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCTGGTGGAAACCCCGACTCTACTAAAAATACAAAATTTAGCTGGATGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGCTGGGGTAGAAGAATCGCTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAATAAAATAAAATAAAAAATAAAGACCAAATGTCCAAAACAAAAATATTTAATATGAATATAGCAAAGCCAGCCAGTTCTGTCTGACATGTAAGCCGGGAGTCTTTCCACTCTCATCTCTCTACTCATCCTAGAATATTTCAAAAAATAATTTTTTTTTAAAAAGGGAGTGTATATTCAGGGCAACTGGAATCTATACTCCTGCTAAGCGTTTTTTAAACAGAATATTTCGAGTCCATCTCTATTATACTGTTTATCATGCTGTAGTATAAACATCTATTTATATGTCTGACTCCACAGCAGTATAACATCTATTTCTGAATACTTAGCACATAAAATGCGCTCAGTAAAAGGTAAATGAACTCATCAGATCCACGTCCAAGTGCCTGTAACTCTTCTAGTCATCAGCCTTGTGACGTTAATAATGTCACATAATTTCAATGAGACTCGGATCGAAAGCTGCACCTCACTAGTATTTAGGAAGATGGAAGGCTGATTCTGTGCGGGGAAGTGCGCGGAAAACTCTTAAGTCCCCTACTCACCAACCTGTGCCAGGAGGCGTGACGTAAGTCCGCCGCGGGTTCGCCAGCACCTTGCCATCCCGCACCACGCCCACGCCAATCTTATTGGCGCTGCCTTCAAAACCCAGCACCGCCGGCATGGCGGAGGCTGGGAGAAAACGCCGACAGGACTCCTGGCAATGTCAGGAGCTGTGGAGGTCCTCACTAGTCCGCGCTGGGCCGCAGCTTTCCGGAGCGCAGAGGAAGCTGGCCAGCCTGCAGATAGCACTGGGAAAGACACCGCGGAACTCCCGCGAGCGGAGACCCGCCAAGGCCCCTCCAGGGACCTGTCTTCCTAACTGCCAGGGACGCCGAGCCAACTCTGTGCCTTACATTCGTATCCGTTTTCCTATCTCTTTCCCGTGGTCCAGCCCAGCCTTCTCCACTGTTTTTTTCCCTCTTGCACATAGTTAGAATCTTAAGTCAGTGTCACACAATGTGCTGTGCATCTGGCACAACGATAAACAGCCCGAGGGAGGGTTGGGGACCTAAGTGTCCTAGAGAATTAGAGGAGGGAGGCGAGGCTAAGCGTCTCCGTCACGTGGTGTCAGACAGACCAATCACGCGCATTCTTCGGCCACGACAAGCGCGCCTCTGATCACGTGACCAGGTCCGCTACCCACGTGGGGGCTCAGCGTGCACCCTTCTTTGTGCTCGGGTTAGGAGGAGCTAGGCTGCCATCGGGCCGGTGCAGATACGGGGTTGCTCTTTTGCTCATAAGAGGGGCTTCGCTGGCAGTCTGAACGGCAAGCTTGAGTCAGGACCCTTAATTAAGATCCTCAATTGGCTGGAGGGCAGATCTCGCGAGTAGGGTACAAGGCACTATGAAATGATCTAGTTTCGTGGGTGAGGGGCTGAAGGGCCTATGATGCACGGAGGCGGGGAAAGGATTTAGAGATAACGTGGTTTGAAAGGCGGGACCTGGTGCGGGGACGCTCTTGGGAGGAGTCTTCTCCCCAGCCTTAGCTGGTTTCATGATTTCTTTGCGTCTGTAGGCAACGCGGTAAAAATATTGCTTCGGTGGGTGACGCGGTACAGCTGCCCAAGGGCGTTCGTAACGGGAATGCCGAAGCGTGGGAAAAAGGGAGCGGTGGCGGAAGACGGGGATGAGCTCAGGACAGGTAAGGGAATGAAATCAGCCCTTCTTCCTAGAAGCTGCGGCGGGGGTGTTTGTCATTCCCTTGATGTACGGTAAGTACGGGCCGACTCATTTTTGCAGGGGTTTGTGAAGAAGTCGCAGGAACCGTAGGCTTTCGTTGGGTCTATAGTTAACGCCGGATCGCAGTTGGAAACCACCAGCTTTTTGTCAGTATATATTACTCATTTTATAGAGCCAGAGGCCAAGAAGAGTAAGACGGCCGCAAAGAAAAATGACAAAGAGGCAGCAGGAGAGGGCCCAGCCCTGTATGAGGACCCCCCAGATCAGAAAACCTCACCCAGTGGCAAACCTGCCACACTCAAGATCTGCTCTTGGAATGTGGATGGGCTTCGAGCCTGGATTAAGAAGAAAGGATTAGATGTGAGTGGAATTTGAGGGAAAGAGACATTTTTTAGTATTGAATGGTCTTAGGGTTTAGTCACCCCTTTTCTCCGTTTAGCCTTCAGGCTGTTTTATTTTTCTCCTGCCCGTAGTTTTCTGTGGGGCTTCCCCAGTCTTGCCAGTTGTATTTCCTAAATGTCTGTTCCTTCACTTCCATTGCCATTTTCTTTTTTAGTGTTCTCTCCTCTTCCCAGAATGTTGCAAAAACCTCTTCACTATACTTCCTCCATTTTATCTTCCTGCATTGCATTCCATATGAAGCATGTCCTCCATTCCATTAACCATAGCTTAAAAATCTTAGCTTGCTATCCACTGCCTATAGAAAAAACACATCTCCTTGGCATAGCATGTAAGACTTTCTTACCTCTCTATATTTGTTTTCATTTATCTAGCTTAGAATTGTTTGAATATTGTGCTGCTTGACTCGAACTCCTTAGGCCAAGAGACTGTTTAACCCGTGCGTATCTATGACTTAGCATATAGATTATTCAATAAATGTTCTGCTGAATTGATAATACGTTTTCCACCTTTCTTTTCACTTACAGTGGGTAAAGGAAGAAGCCCCAGAT
|
CTCTTTCCGGCTTCTATATAGGCTATTCAACTTTCAGAAATGCTCTTCTTCTTACCCTACTCAGCCTTCAGGTCTCAATGCAAGTAGTATCTACCTCATACCCTTTCGTGATCTTTTTTTTTTTTTTTTCTTTTGAGACAGTCTCAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGAGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGACACCACCACGCTCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACCGTGCCTGGCCTTTGGTGATCTTCTTTCTCTGTGACCCTACAGAACTCTATGCATGATGATGTCATTTATTTAACATAACAATTACAGCATTATAATTTTCTGTGGTTTGCTCAGCTTAATCATGAATATCTCAAAGCATTGAGTATTTTATTTATCTTTGTATTCCCAGTGCCCAAGTGCCCAGAGGAGTGAATGCTAAACATACATATATATTTCTAGTGAGTATCTGTCACAACATCACCTGTTCAGGGAGGCTTTTCAGATACATGCAAGTCAGCTGCCCTCTCCTATGTATGCAAGTGTTTGAGGGGAGAGTAGCAAGATATAATAGCTTATTTAAAATATCAATTAAAAGTTGTAATGTGTTTTGTACTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGATGCCCAGGCTGGAGTGCAATGGCACCATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCACGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGTTTACAGGCATGCGCCACCACGCCCAGTTAATTTTTTGTATTTTTTAGTGGAAACATGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCGTGTTTGGTACTTTCATCTAATCTTCAAGACCTAATGATACAGGTATTATTCCCATTTTAAAAACAAAGACCAGGCCCGAGCGGTGGCTCATGCCTGTAATTTCCACACTTTGGGAGGCTGGGGTGGGCGGATCATCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCTGGTGGAAACCCCGACTCTACTAAAAATACAAAATTTAGCTGGATGTGGTGGCGCACACCTATAGTCCTAGCTACTTGGGAGGCTGGGGTAGAAGAATCGCTTGAACCTGGAAGGCAGAGATTGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAATAAAATAAAATAAAAAATAAAGACCAAATGTCCAAAACAAAAATATTTAATATGAATATAGCAAAGCCAGCCAGTTCTGTCTGACATGTAAGCCGGGAGTCTTTCCACTCTCATCTCTCTACTCATCCTAGAATATTTCAAAAAATAATTTTTTTTTAAAAAGGGAGTGTATATTCAGGGCAACTGGAATCTATACTCCTGCTAAGCGTTTTTTAAACAGAATATTTCGAGTCCATCTCTATTATACTGTTTATCATGCTGTAGTATAAACATCTATTTATATGTCTGACTCCACAGCAGTATAACATCTATTTCTGAATACTTAGCACATAAAATGCGCTCAGTAAAAGGTAAATGAACTCATCAGATCCACGTCCAAGTGCCTGTAACTCTTCTAGTCATCAGCCTTGTGACGTTAATAATGTCACATAATTTCAATGAGACTCGGATCGAAAGCTGCACCTCACTAGTATTTAGGAAGATGGAAGGCTGATTCTGTGCGGGGAAGTGCGCGGAAAACTCTTAAGTCCCCTACTCACCAACCTGTGCCAGGAGGCGTGACGTAAGTCCGCCGCGGGTTCGCCAGCACCTTGCCATCCCGCACCACGCCCACGCCAAACTTATTGGCGCTGCCTTCAAAACCCAGCACCGCCGGCATGGCGGAGGCTGGGAGAAAACGCCGACAGGACTCCTGGCAATGTCAGGAGCTGTGGAGGTCCTCACTAGTCCGCGCTGGGCCGCAGCTTTCCGGAGCGCAGAGGAAGCTGGCCAGCCTGCAGATAGCACTGGGAAAGACACCGCGGAACTCCCGCGAGCGGAGACCCGCCAAGGCCCCTCCAGGGACCTGTCTTCCTAACTGCCAGGGACGCCGAGCCAACTCTGTGCCTTACATTCGTATCCGTTTTCCTATCTCTTTCCCGTGGTCCAGCCCAGCCTTCTCCACTGTTTTTTTCCCTCTTGCACATAGTTAGAATCTTAAGTCAGTGTCACACAATGTGCTGTGCATCTGGCACAACGATAAACAGCCCGAGGGAGGGTTGGGGACCTAAGTGTCCTAGAGAATTAGAGGAGGGAGGCGAGGCTAAGCGTCTCCGTCACGTGGTGTCAGACAGACCAATCACGCGCATTCTTCGGCCACGACAAGCGCGCCTCTGATCACGTGACCAGGTCCGCTACCCACGTGGGGGCTCAGCGTGCACCCTTCTTTGTGCTCGGGTTAGGAGGAGCTAGGCTGCCATCGGGCCGGTGCAGATACGGGGTTGCTCTTTTGCTCATAAGAGGGGCTTCGCTGGCAGTCTGAACGGCAAGCTTGAGTCAGGACCCTTAATTAAGATCCTCAATTGGCTGGAGGGCAGATCTCGCGAGTAGGGTACAAGGCACTATGAAATGATCTAGTTTCGTGGGTGAGGGGCTGAAGGGCCTATGATGCACGGAGGCGGGGAAAGGATTTAGAGATAACGTGGTTTGAAAGGCGGGACCTGGTGCGGGGACGCTCTTGGGAGGAGTCTTCTCCCCAGCCTTAGCTGGTTTCATGATTTCTTTGCGTCTGTAGGCAACGCGGTAAAAATATTGCTTCGGTGGGTGACGCGGTACAGCTGCCCAAGGGCGTTCGTAACGGGAATGCCGAAGCGTGGGAAAAAGGGAGCGGTGGCGGAAGACGGGGATGAGCTCAGGACAGGTAAGGGAATGAAATCAGCCCTTCTTCCTAGAAGCTGCGGCGGGGGTGTTTGTCATTCCCTTGATGTACGGTAAGTACGGGCCGACTCATTTTTGCAGGGGTTTGTGAAGAAGTCGCAGGAACCGTAGGCTTTCGTTGGGTCTATAGTTAACGCCGGATCGCAGTTGGAAACCACCAGCTTTTTGTCAGTATATATTACTCATTTTATAGAGCCAGAGGCCAAGAAGAGTAAGACGGCCGCAAAGAAAAATGACAAAGAGGCAGCAGGAGAGGGCCCAGCCCTGTATGAGGACCCCCCAGATCAGAAAACCTCACCCAGTGGCAAACCTGCCACACTCAAGATCTGCTCTTGGAATGTGGATGGGCTTCGAGCCTGGATTAAGAAGAAAGGATTAGATGTGAGTGGAATTTGAGGGAAAGAGACATTTTTTAGTATTGAATGGTCTTAGGGTTTAGTCACCCCTTTTCTCCGTTTAGCCTTCAGGCTGTTTTATTTTTCTCCTGCCCGTAGTTTTCTGTGGGGCTTCCCCAGTCTTGCCAGTTGTATTTCCTAAATGTCTGTTCCTTCACTTCCATTGCCATTTTCTTTTTTAGTGTTCTCTCCTCTTCCCAGAATGTTGCAAAAACCTCTTCACTATACTTCCTCCATTTTATCTTCCTGCATTGCATTCCATATGAAGCATGTCCTCCATTCCATTAACCATAGCTTAAAAATCTTAGCTTGCTATCCACTGCCTATAGAAAAAACACATCTCCTTGGCATAGCATGTAAGACTTTCTTACCTCTCTATATTTGTTTTCATTTATCTAGCTTAGAATTGTTTGAATATTGTGCTGCTTGACTCGAACTCCTTAGGCCAAGAGACTGTTTAACCCGTGCGTATCTATGACTTAGCATATAGATTATTCAATAAATGTTCTGCTGAATTGATAATACGTTTTCCACCTTTCTTTTCACTTACAGTGGGTAAAGGAAGAAGCCCCAGAT
|
Task1_train_19449
|
Gene PNP (purine nucleoside phosphorylase), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Purine-nucleoside phosphorylase deficiency
|
TATCTTCTTTTCCCTGGAGAGTTAAGAATTTTTTTTTAAGACCTGTCAGCAGGAAAAGACCTTTAATAGCTATTTTTTTAAACTCTTTAACACAAGACTGGAAGAGCAGAGGGAGAAGGTGAGGGAAATATTAACAGAGGGTGTGTGAAGGGCATACTTCTCTAAGGGAGATAGTAGTGACGCTGGCTCCACTGGCCACTCCTACCCCCAGTGAGAAGGGCACTGCATTAAATGATAAGTGGGTTAGTTTTTTTAAGCTTATCAACATGTTTATTTTTTATACTCCACTTGGGTTTCCTTTGTCAACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAGCTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGTTTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTTATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGGCTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAATTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGTGACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAATTTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATTTCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTATTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTATGGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGAACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAATGCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTACTTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATATGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGGTTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGGCTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAGTGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGTTACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATTTTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGAAGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGAGTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAAACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAGCACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTTTTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTGGGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTGGCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTGTTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGGAACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATTGGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCTTTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCATCTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAGCCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCTGCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTGGATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGTTATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTC
|
TATCTTCTTTTCCCTGGAGAGTTAAGAATTTTTTTTTAAGACCTGTCAGCAGGAAAAGACCTTTAATAGCTATTTTTTTAAACTCTTTAACACAAGACTGGAAGAGCAGAGGGAGAAGGTGAGGGAAATATTAACAGAGGGTGTGTGAAGGGCATACTTCTCTAAGGGAGATAGTAGTGACGCTGGCTCCACTGGCCACTCCTACCCCCAGTGAGAAGGGCACTGCATTAAATGATAAGTGGGTTAGTTTTTTTAAGCTTATCAACATGTTTATTTTTTATACTCCACTTGGGTTTCCTTTGTCAACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAGCTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGTTTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTTATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGGCTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAATTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGTGACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAATTTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATTTCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTATTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTATGGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGAACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAATGCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTACTTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATATGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGGTTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGGCTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAGTGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGGTATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGTTACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATTTTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGAAGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGAGTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAAACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAGCACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTTTTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTGGGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTGGCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTGTTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGGAACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATTGGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCTTTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCATCTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAGCCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCTGCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTGGATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGTTATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTC
|
Task1_train_19450
|
This mutation occurs in PNP (purine nucleoside phosphorylase) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Purine-nucleoside phosphorylase deficiency
|
ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAGCTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGTTTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTTATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGGCTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAATTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGTGACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAATTTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATTTCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTATTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTATGGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGAACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAATGCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTACTTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATATGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGGTTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGGCTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAGTGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGTTACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATTTTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGAAGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGAGTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAAACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAGCACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTTTTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTGGGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTGGCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTGTTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGGAACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATTGGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCTTTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCATCTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAGCCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCTGCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTGGATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGTTATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAGCAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTATCTAAATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATAATGTTGTCAGAATAAAGAGAAAGATGAAATAATTTCATTTTTTTGTGTAACTTGGTATGGGGCTGGGGCACAGACCAAGATTGACATGAAAGGATGTGAGATCGCATGTCTTGTGTGACTATCTGCTTCTCAGACAAGCAGTTAGGAACTGAGATGAGATAGTAT
|
ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAGCTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGTTTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTTATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGGCTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAATTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGTGACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAATTTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATTTCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTATTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTATGGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGAACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAATGCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTACTTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATATGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGGTTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGGCTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAGTGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGTTACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATTTTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTGTGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGAAGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGAGTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAAACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAGCACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTTTTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTGGGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTGGCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTGTTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGGAACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATTGGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCTTTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCATCTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAGCCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCTGCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTGGATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGTTATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAGCAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTATCTAAATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATAATGTTGTCAGAATAAAGAGAAAGATGAAATAATTTCATTTTTTTGTGTAACTTGGTATGGGGCTGGGGCACAGACCAAGATTGACATGAAAGGATGTGAGATCGCATGTCTTGTGTGACTATCTGCTTCTCAGACAAGCAGTTAGGAACTGAGATGAGATAGTAT
|
Task1_train_19451
|
This sequence variant lies in PNP (purine nucleoside phosphorylase) on Chromosome 14. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not specified
|
ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAGCTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGTTTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTTATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGGCTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAATTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGTGACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAATTTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATTTCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTATTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTATGGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGAACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAATGCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTACTTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATATGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGGTTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGGCTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAGTGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGTTACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATTTTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGAAGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGAGTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAAACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAGCACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTTTTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTGGGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTGGCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTGTTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGGAACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATTGGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCTTTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCATCTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAGCCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCTGCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTGGATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGTTATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAGCAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTATCTAAATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATAATGTTGTCAGAATAAAGAGAAAGATGAAATAATTTCATTTTTTTGTGTAACTTGGTATGGGGCTGGGGCACAGACCAAGATTGACATGAAAGGATGTGAGATCGCATGTCTTGTGTGACTATCTGCTTCTCAGACAAGCAGTTAGGAACTGAGATGAGATAGTAT
|
ACTTTATTACTGTTTTTGTTTTGTTTTTTTGCATAAGCTCCTCTATCTTTGAGAATTTCTCAGCTCTTCCTCTTGGTTCTAGTCCCTCTCCCATTCCCTAAGGGATAGGTTGGCCGTCTATTAGAAGTGACTGCCAGATAAAAGAAATGGTAATAATGGCTGTTATGTCTGTGGGGAGTTATCTTTGCACTCCCACGCACCCCTCCGTGGGCATGTGTTCCCATAGGACTGTTCCGTGGGTCATAAGGAAAGAGACACTTGCATGCGTTCAAATTCTTTCCCCCTTGTTCAGTAGCCTCTTCTTTAAGAAGCCAGAGTAAGTATACTATGAGCTTGCTTGCTGGACTGAGGAGGCAGGTAATTAAGTTAGGGCAATAGATAAGAATACATGTTTTGAGAACTTTGAAAAATTTGAAGAGGTCTATAATTACTGCATTCACTGTACTCACTTTATTTTGAAACAGAGTCTCGCTCTGTCACCCAGGCTCGAGTGTAGTGTTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGAGATTCTCCCACCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGGTGGTCTTGAACTCCTGGCCTGTTGATCCGCCTGTCTTGGGCTCCCGAAGTGCTGGGACTACAGGTGTGAGACACCGCACCTGGCCTATTTTTAATTTTAATTTTTATAGATTTACAGGGGTACAATGCAGTTTTGTTATATGGATATACTGCGTGGTGGTGACGTCTGTGCTTTAGTGTAACCATCACCTGAGCAGTGAACATTGTACTTATTAGGTAATTTCTCATCCCTCATCCCCATCCCACTTTCTCACCTTTCCGAGTCCCCAGTGTCTATTATTTCACTCTGTAGGTCCATATGTACACATTTGGTTCCCACTTATAAGTGAGAACATGTAGTATTTAATCTTCCATTTCTGAGTATCTACTTTTTTTGCTCACTTTTTACTCTCTGGCAGTATGGCTTGTATTATCTTGAAATTTCTTTAAAAAGCCCTTCCTTCTTTGTGTGTTCATGCTGAACATGCTGAACGCACCCCATATCTCTAATCTTGGGTTGTATTTGTATAATTATTAGTAATGCCTGGCTCTCTCACCAGACTTAAACTTTCTGAAAGCAGAGATAATAATGAGTCTTTTACTTAATTACAACCTAACATTTTGAGCAGAGCGAGTAACTCACAGTAGGTGCTTAATGGATATGTGTTGCATGAAAATATAATCCCATTCATTTCTCTTTCTGTTTTGTATACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTAAGTCAGAGGGATAGGTCCGGTTGGATCTGGAAGAGGCAGGAGAGAACTATCTAGCCTCTTTCACTACCTAGCTATCTGGGCTAGGTGGATTTTTGGTCCTCTCCTTCCTTTTCTTTCACGATGTATGTCATGCATTTCAGTGTAGCTGAATTAATGAAATTTTGTAAATTTTTTTCGGATTGTTTGCTTCGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTATGTATGTTACTCCGTTTTTTTTAGGTGGGTAGGATTTAAAGACTTCTCTAGGAGCTGTGGGAGAATTTTTAAAATTCCGTTTATGTGAGATAATTCAACCTGTGTCCTAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTGTGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGTGAGAAGGGGAATTTGGCTGGAAGCTTGAAGAGGGAGGGGTTTAGCAAAATGGGAAGGGGAAGGAGTAGGAAATAACAGGCCTCATTGGACTGAGAGGATCTGATTTCAGGGAAGGGTGAATTAAACTGACTTATTGAAATACAAACTGGTGAGATTTGGTGTAGCATCAAATCTCCCTACGAAGCACCAAGGGGTTAACAGCTGCAGTGCTAATGAATGATCTATCCATGATTTGATGACTGTTTTTTGAGACGGAATGTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCATGCCTCAGCCTTCCGAGTAGCTGGGATTACAGACGTGTGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCCTTGAACTCGCGACCTCAGGTAATCCGCCCATCTTGGCCTCCTAAAGTGCTGGCATTACAGGCGCGACGCACTGTGCCTGGCCAATGTGATGACTGTTTCTAAGAATTCTAAAAAATTCACTATAGCCACCTTCTGTACCTCTAGCTGGAAGATGGAACTCTATCATTAGGATTGAGTTCAAAATTGCCACAAATATAGAAATGAAGGATTGTATTGGTAATTTTAAGAAATGTGTATTTATTTTAGGCAATACAGAAGATAATTTAGCTGCTTCTTTGGATTTGTTTTAGGTGGGGCCTTGCTCTGTTGCCAAGGTTGGAGTGCAGTGGCACCATCTCTAGCTCACTACAGTTCTGACTGCCTGGGCTCAAACAATCCTCCCACCTCAGCCTCCTGAGTAACGGGGACCACAGGCGTACACTACCACACCTGGCTAATTTTATTTATTTTTTGAGCCGAGGTCTCTTTATGTTGCCCAGGCTGGTCTCAAACTCCCGGGCTCAAGACATCCTCCTGCCTTGGCCTCCCAATGTACTGGGATTACAGGTGTGAACCACTGCACCCGGCCATCTTTGGATGTTTTTTGAGATTTTTAATTCTTGTTGAAAGCGAGGCTAAAGGGCAAGGAAAAGAGTTATTTGAGGATCCTGACAGTTGGTTTCCATCTTTCTCACTATCAGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAGCAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTATCTAAATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATAATGTTGTCAGAATAAAGAGAAAGATGAAATAATTTCATTTTTTTGTGTAACTTGGTATGGGGCTGGGGCACAGACCAAGATTGACATGAAAGGATGTGAGATCGCATGTCTTGTGTGACTATCTGCTTCTCAGACAAGCAGTTAGGAACTGAGATGAGATAGTAT
|
Task1_train_19452
|
Chromosome 14 houses a mutation in gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Amyotrophic lateral sclerosis type 9
|
TTAGAGATAGCAACTCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAA
|
TTAGAGATAGCAACTCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCTGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAA
|
Task1_train_19453
|
Given this context: Chromosome 14, gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Amyotrophic lateral sclerosis type 9
|
TCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCC
|
TCTCTCAAGTATGGACAAATGTCGGTGCGGACAAATTTGATGCACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCGAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCC
|
Task1_train_19454
|
Here is a mutation in ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Amyotrophic lateral sclerosis type 9
|
ACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAG
|
ACTGCTGAAGAATACCAAATAATATGCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAAGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAG
|
Task1_train_19455
|
This variant lies on Chromosome 14 and affects the gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Amyotrophic lateral sclerosis type 9
|
GCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAGAGCCCAGCCTCACTGAAAGTATTCA
|
GCTAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGGAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAGAGCCCAGCCTCACTGAAAGTATTCA
|
Task1_train_19456
|
This alteration occurs within gene ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Amyotrophic lateral sclerosis type 9
|
TAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAGAGCCCAGCCTCACTGAAAGTATTCAAA
|
TAAGGAATTTTTTCATTCCACAATAATGGAGTAAATAGCAGCTGGAAATGTTTGCATTAAGTTCATAGATTATAATTTGTAATGGAATCAACACCAAATGCAAATTAGAAAGAGAGCCCACTTTGCTCACCCAGTCACGTCTTCCCATGTAACCATAGAACATTGGGGTCCTGTGTCTTTCTAGATCCACAGTCTTGCTCTCAGAACAGGCTAGCCACACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCATAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAGAGCCCAGCCTCACTGAAAGTATTCAAA
|
Task1_train_19457
|
Here’s a variant in ANG, EGILA, RNASE4 (angiogenin| EGFR interacting lncRNA| ribonuclease A family member 4) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Amyotrophic lateral sclerosis type 9
|
ACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTGTCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAGAGCCCAGCCTCACTGAAAGTATTCAAATTTAGGAATGGGTTTGAGAAGTAGGTAGCTGGTATGTGCTTAGCACAAGAATCTCTCTTCCTTGGGTTAGTCTGTTTCAAAACTGAAAACACTGTCATTCCTTAAGAAAATAGGAAAAAGTATTCCAAACCTCTGTCACTAGAAAATTTGCCATATTACCAAATCTCAAAAACCTCTCAGGAAATGAGAAAGTCCCAGTTTCTGGTAAACTATTTGGG
|
ACCACAGGCCTAGTGCCAGGACCCATGGCCTTTTTTTAAGCTCAGACTCCCTTCTGTGAACAGCAATATCCCCACAACTTGTACAACATTGGTGCTTCCTGCAAGGGCTACAGAACTATTTGATACGAAAATGTTCATTGACTTACACACAAGAGAAGCACAAAATAAAAAATTAATAATTAATTTAATGTCTTTGAAAATGTACCATTTATTTTTACATTTGGGGTCATAAGAATTGTATTACACTTAAGAATGCAATACAATTTGAAGATCAGATTTTTCTCCCTTTGTGAGAATTTCTCAGTATGTGTGATGACTACCAAGAAATCATAGCCAGTCATAAATTCAGTGAGTTACTCATAAACGAACAAGAACCACCTACTTCTTGGGGAGGTAGGTCTGCTTCCCTTCAACTCAGGATACAACTGCTTTCAACTGCTTTCTTCACATTAGCTGACTAATTAGCTAGAAGCCTGTCGTAAACAATTTTATGGTTGACTCCTTCCCTGGGCTCAGGGTTCCCTAGAACAGAGGTCCCCAAATCCCGGTCTGTGGCCTGTCCGCCTAAGCTCTGCCTCCTGCCAGATCAGCAGGCAGCATTAGATTCTCATAGGAGCTGGACGCCTATTGTGAACTGCGCATGTGCGGGATCCAGATTGTGCACTCTTTATGAGAATCTAACTAATGCTTGATGATCTATCTGAACCAGAACAATTTCATCCTGAAACCATCCCCCACCAATCCATAGAAATACTGTCTTCCACAAAAATGATCCCTGGTGCCAAAAATGTTAGAGACCACTCCCCTAAAACTCTCTTCTTAGCTCTCACCTCCTGTATTACTATCTCATCTCAGTACATTGAAGCCCCCATCTTTTCCCCATGGATGCCTCATTTCCTATTAGGGAGGCATTTTTTTATTTTTTGTTTTTATTTTTTTCCGAGACGGAGTCTCGCTCTGTCGCCAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTCATTTGGTATGTCTTAATGTGCCTCAGGACCTAGCACAGTCCCTGGTACCCAGTAGAGACCTATGTAATGTTCATTATTCAATTAATAAATACATGAATTAAAGAGTGAGAGTGGATTTTGTAATGTTACGACTGATAGAGAAATACTCAGTGATTCTAAGGGATGGGGAAGAACGGTTGGAGCTAGAGGTTGTGCTCAGGAAACTATTAAATAGACGTTCCGCAGGAAGGGATTGACGAAGTGTGAGGTTAATGAGGAAGGGAAAATAGAATATAAAATTTGGTGGTGGAAAAGATCTGATTCATGATGCCGTGTCAGAGAGCAAAGCTCCTGTCCTTTTGGCCTAATTTGGTGATGCTGTTCTTGGGTCTACCACACCTCCTTTTGCCCTCCGCAGGAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTTTGTTGTTGGTCTTCGTGCTGGGTCTGGGTCTGACCCCACCGACCCTGGCTCAGGATAACTCCAGGTACACACACTTCCTGACCCAGCACTATGATGCCAAACCACAGGGCCGGGATGACAGATACTGTGAAAGCATCATGAGGAGACGGGGCCTGACCTCACCCTGCAAAGACATCAACACATTTATTCATGGCAACAAGCGCAGCATCAAGGCCATCTGTGAAAACAAGAATGGAAACCCTCACAGAGAAAACCTAAGAATAAGCAAGTCTTCTTTCCAGGTCACCACTTGCAAGCTACATGGAGGTTCCCCCTGGCCTCCATGCCAGTACCGAGCCACAGCGGGGTTCAGAAACGTTGTTGTTGCTTGTGAAAATGGCTTACCTATCCACTTGGATCAGTCAATTTTCCGTCGTCCGTAACCAGCGGGCCCCTGGTCAAGTGCTGGCTCTGCTGTCCTTGCCTTCCATTTCCCCTCTGCACCCAGAACAGTGGTGGCAACATTCATTGCCAAGGGCCCAAAGAAAGAGCTACCTGGACCTTTTGTTTTCTGTTTGACAACATGTTTAATAAATAAAAATGTCTTGATATCAGTAAGAATCAGAGTCTTCTCACTGATTCTGGGCATATTGATCTTTCCCCCATTTTCTCTACTTGGCTGCTCCCTGAGAGGACTGCATAGGATAGAAATGCCTTTTTCTTTTCTTTTCGTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTTAAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTCTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAATAGCTGAGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCGTTTTGGCCAGGTTGGTCTTGAACTCCTGACCTCGGGAGATCCGCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCGGGCCACTTTTTCCTTATCAGTCAGTTTTTACAAGTCATTAGGGAGGTAGACTTTACCTCTCTGTGAAGGAAAGTATGGTATGTTGATCTACAGAGAGAGATGGAAAAATTCCAGGGCTCGTAGCTACTAAGCAGAATTTCCAAGATAGGCAAATTGTTTTTTCTGTCAAATAATAAGCTAATATTACTTCTACAAATATGAGACCTTGGAGAGAAGTTTCCAAGGACCAAGTACCAACATACCAACAGATTATTATAGTTTCTCTCACTCTTACACACACACACACACATATACACATATGTAATCCAGCATGAATACCAAAATTCATTCAGGGTAGCCACCTTTTGTCTTAAGCGAGAGATAATTTTGATGTTTGAATGGAATGCTCCCAGGATATTCTCTTGTCATGGTTATTTTATATAAAATTCAAAAACCAATTACATTATTTCCTCTGTAATCTTTTACTTTATCAACTAATGTCTGGCAAGTGTGATGTTTTGGGGAAGTTATAGAAGATTCCGGCCAGGCGCTGTGGCTCACGCCTGTAATCCAGCACTTTGGGAAGCTGAGGCGGACAGATCACGAGGTCAAGAGATCAAGACCATCCTGGACAACATGGTGAAACCTTGTCTCTACTAAAAATGTGAAAATTAGCTGGGCGTGGTGGCACACACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGGTTGCACTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAGATCCCAGTTTATCCCAGTTTATCCCTTATTCTTCCTCAATTCTCAAGATTTGTTTTTAAGTTAACATAACTTAGGTTAACACACTCTTTGTAAAATACACTGTTCAATCTACAGACTCAGTGGTTAGCTTCCTGTTAACTAATTTCTGTTGACAGGTACTTGGATATTTTATTTAGAAAGTGGTTGCCAATAAATTAGTTATAAGTCGCCAGTTTCACTGCCTTGTGAACACATAATTATTGTGGTCTCAGTATTCCCTATGGTGGCTTCTCCTGCTCCTGGTATTGCCCTGAAATGGGCCAAAAGCCGTGGCTCCCCAATACTCAGGTTATAGAACATTGTCCAGGTACCACCTAGGAGAGCCCAGCCTCACTGAAAGTATTCAAATTTAGGAATGGGTTTGAGAAGTAGGTAGCTGGTATGTGCTTAGCACAAGAATCTCTCTTCCTTGGGTTAGTCTGTTTCAAAACTGAAAACACTGTCATTCCTTAAGAAAATAGGAAAAAGTATTCCAAACCTCTGTCACTAGAAAATTTGCCATATTACCAAATCTCAAAAACCTCTCAGGAAATGAGAAAGTCCCAGTTTCTGGTAAACTATTTGGG
|
Task1_train_19458
|
This variant affects the gene RPGRIP1 (RPGR interacting protein 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Retinal dystrophy
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCGCATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
Task1_train_19459
|
A mutation found in RPGRIP1 (RPGR interacting protein 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Leber congenital amaurosis 6
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCGCATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
Task1_train_19460
|
A genomic change on Chromosome 14 affects RPGRIP1 (RPGR interacting protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Cone-rod dystrophy 13
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCGCATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
Task1_train_19461
|
Assess the clinical impact of this variant on gene RPGRIP1 (RPGR interacting protein 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Leber congenital amaurosis 6
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCGCATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
Task1_train_19462
|
This alteration in RPGRIP1 (RPGR interacting protein 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Cone-rod dystrophy 13
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCGCATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
Task1_train_19463
|
The gene RPGRIP1 (RPGR interacting protein 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Leber congenital amaurosis 6
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
AGCAGTTTTAGTCGGATAATAGAACTTCATCACTCATCTCCTGTTATTCTTGTCAGTGATTTCTCTCTTAAAAGCTCTAAAATCTTTGTTGCAATTTGAGGATGCTGACAGTGACAGGGCAGCTGGCTGGACACTGAATGCAAGTTTCATATTGTGGTGCCTCCTATACTTAGTGTAGTCACTGCTGACCAGAGCCTGGTCTCAGGCTTGTTTGTCAAGACACTTGGCTTTGTTATTATACCCAGTGGTGAAAGATCTGACTCACGAAAACCAAATTAACCAGAAGCTGATATTTAAACCCAAATGTTTGTTATTTTACAATAGTGGCTATTCCACTGCTTCCATGAGGAACTTGGAACCACAGTTCAGGGCAGCCCTCTTTCGGGAAGCAAAATCAGTAAGTAGGTTTCTTAGTGAGCATGGAATAGAATAAAGGGACATGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGACGAGGCGGGCGGATTGCCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCGCTACTAAAAATAGAACAATTAGCTGGGCATGGTGGCGGGCACCTGTAACCCCAGATACTTAGGAGGCTGAGACAGGAGAATCGCTTGAACCCGGGAGGCAAAGTTGCAGTGAGCCGAGACCAGGCCATTGCATTCCAGCCTAGGCAACAAGAGCGAAACTCTGTCTCAAAAAGAAAAAAAAAAAAGAATAAAAGCACATAAGTGTCTCTGGGCCGTGATTTATCCATGTCAGCGTGAGTCTGATAAAAGATCACTGCTTCTACCTACGTCTGAAGATTTATTTGCTTTAGCTAATAGTTCTTTGATCACTGGTAAGACTAAAGAGTTTTTCTATGTTCACCAGTTATTTGTATTATTCCTTTTGAGAATTGACCGTTCCTATCCTTTGCCTACTTCTTAACAGTATCCTATTGATTTATAGAAATTCTTTTTATGCTGAGATTATTACTCCTGCATCATGTAATGCAAAATTTTAAGTATATTATATTTAATTATATTAATCTTGTTAATTAAGAAAGTAGTCTCCTTATTCGTGTGTGTGTGTGTGTGTCATGAAGACATTCCGATGTGTCCAGAATATTTTATTCTACTGCTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCTCATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCAT
|
Task1_train_19464
|
This mutation is located in gene RPGRIP1 (RPGR interacting protein 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Cone dystrophy
|
CTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCATTCTCTCACTTCTTTTAAACACTGGACACAAGTTAGAGAGATTTCCACACCAGATCATGACAAACACAAATTTCTTGGATTTTTTTTTTCCTCCCAATGTGGAGCTGAGCTCCATACTGTCTTTCCTAACTTTTATACCTAGGATTGTGGGGGTGTACCAAGAGGGGTCAACTCTTTGACTACAGTCCTGGGAGGGTGAGGTGGGGGTATCCATGTTTTCCTTAGGAAGTGGGGATAGCTGCAGTCAGAAACAACCATATTTAACAAGATTCTGGATGCTCCAGGACATGTATGCAGCTCTCTCCTCAATACAACTGCTTAAAAAAAGGCTGACACTTCTGGACACAACTCCTTTGCCAAACAGGGGAGGCAGTATAAGCCACCTGTTAATCAGTGTTACAAATCAGACATCTGGCATTTCGAAAGAGCCATTTTGCTTAAGTTTTCTTGGGACCACTTGAGGGTAGAGGTAACAGTTTTCTTGGTACAACTAAGGCACAGTAAGCATTTGATAATAGTAATAATAATGCAGCCTTGTTCATTGGCTGGATGACTGATGACAAGCAAGCTGTACTCCTTTTCATACACCCTTCACTATCTCTTCCTGAATCCTAGAGATAACCCATCTTCCCTGATTAATATTCTAACTGCACTGCTGTTTGATTTTACTTCTGAGTGTATCATCATCGTAATTATTTAATGGATGTTAATTAATTGCTGATAAAATATGTTGAAATTAAAAATGGGAAGGAAGTAGATAAGGTGCTGACAAATGCTCACTTGCTTATTTCATGTGATCAGGTCTTATTAATATCTGTTTGTTTCTCAGGTGATTTTAACCTCACTGACCCTGCAGAGAAACCCAACGGATCTATTCAAGTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTCCTGAAACCAGAAGCTCAGACTAAGGGGAAGGATACCAAGGACAGTTCAAAGATCTCATCTGAAGAGGAAAAGGCTTCATTTCCTTCCCAGGTAACTCTCCAGGACTCCACAGGTAGCAGATCTCTGCCAATCCTATGGAGCAGATTTGAAGGAGACAGTATTATAGTTGAAGTAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGG
|
CTTTAACTCTTAAAATAGGACCTTCGGCAGCAGCACACTGTGTTGACTCAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCACCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCATTCTCTCACTTCTTTTAAACACTGGACACAAGTTAGAGAGATTTCCACACCAGATCATGACAAACACAAATTTCTTGGATTTTTTTTTTCCTCCCAATGTGGAGCTGAGCTCCATACTGTCTTTCCTAACTTTTATACCTAGGATTGTGGGGGTGTACCAAGAGGGGTCAACTCTTTGACTACAGTCCTGGGAGGGTGAGGTGGGGGTATCCATGTTTTCCTTAGGAAGTGGGGATAGCTGCAGTCAGAAACAACCATATTTAACAAGATTCTGGATGCTCCAGGACATGTATGCAGCTCTCTCCTCAATACAACTGCTTAAAAAAAGGCTGACACTTCTGGACACAACTCCTTTGCCAAACAGGGGAGGCAGTATAAGCCACCTGTTAATCAGTGTTACAAATCAGACATCTGGCATTTCGAAAGAGCCATTTTGCTTAAGTTTTCTTGGGACCACTTGAGGGTAGAGGTAACAGTTTTCTTGGTACAACTAAGGCACAGTAAGCATTTGATAATAGTAATAATAATGCAGCCTTGTTCATTGGCTGGATGACTGATGACAAGCAAGCTGTACTCCTTTTCATACACCCTTCACTATCTCTTCCTGAATCCTAGAGATAACCCATCTTCCCTGATTAATATTCTAACTGCACTGCTGTTTGATTTTACTTCTGAGTGTATCATCATCGTAATTATTTAATGGATGTTAATTAATTGCTGATAAAATATGTTGAAATTAAAAATGGGAAGGAAGTAGATAAGGTGCTGACAAATGCTCACTTGCTTATTTCATGTGATCAGGTCTTATTAATATCTGTTTGTTTCTCAGGTGATTTTAACCTCACTGACCCTGCAGAGAAACCCAACGGATCTATTCAAGTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTCCTGAAACCAGAAGCTCAGACTAAGGGGAAGGATACCAAGGACAGTTCAAAGATCTCATCTGAAGAGGAAAAGGCTTCATTTCCTTCCCAGGTAACTCTCCAGGACTCCACAGGTAGCAGATCTCTGCCAATCCTATGGAGCAGATTTGAAGGAGACAGTATTATAGTTGAAGTAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGG
|
Task1_train_19465
|
This variant impacts the gene RPGRIP1 (RPGR interacting protein 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Retinal dystrophy
|
CAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCATTCTCTCACTTCTTTTAAACACTGGACACAAGTTAGAGAGATTTCCACACCAGATCATGACAAACACAAATTTCTTGGATTTTTTTTTTCCTCCCAATGTGGAGCTGAGCTCCATACTGTCTTTCCTAACTTTTATACCTAGGATTGTGGGGGTGTACCAAGAGGGGTCAACTCTTTGACTACAGTCCTGGGAGGGTGAGGTGGGGGTATCCATGTTTTCCTTAGGAAGTGGGGATAGCTGCAGTCAGAAACAACCATATTTAACAAGATTCTGGATGCTCCAGGACATGTATGCAGCTCTCTCCTCAATACAACTGCTTAAAAAAAGGCTGACACTTCTGGACACAACTCCTTTGCCAAACAGGGGAGGCAGTATAAGCCACCTGTTAATCAGTGTTACAAATCAGACATCTGGCATTTCGAAAGAGCCATTTTGCTTAAGTTTTCTTGGGACCACTTGAGGGTAGAGGTAACAGTTTTCTTGGTACAACTAAGGCACAGTAAGCATTTGATAATAGTAATAATAATGCAGCCTTGTTCATTGGCTGGATGACTGATGACAAGCAAGCTGTACTCCTTTTCATACACCCTTCACTATCTCTTCCTGAATCCTAGAGATAACCCATCTTCCCTGATTAATATTCTAACTGCACTGCTGTTTGATTTTACTTCTGAGTGTATCATCATCGTAATTATTTAATGGATGTTAATTAATTGCTGATAAAATATGTTGAAATTAAAAATGGGAAGGAAGTAGATAAGGTGCTGACAAATGCTCACTTGCTTATTTCATGTGATCAGGTCTTATTAATATCTGTTTGTTTCTCAGGTGATTTTAACCTCACTGACCCTGCAGAGAAACCCAACGGATCTATTCAAGTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTCCTGAAACCAGAAGCTCAGACTAAGGGGAAGGATACCAAGGACAGTTCAAAGATCTCATCTGAAGAGGAAAAGGCTTCATTTCCTTCCCAGGTAACTCTCCAGGACTCCACAGGTAGCAGATCTCTGCCAATCCTATGGAGCAGATTTGAAGGAGACAGTATTATAGTTGAAGTAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGGCGAATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGGG
|
CAAATATTCCCCAATTTGAAGCAGGCTATATATCAAAGTTTCTGATTGGTTGGACTTGGGAGATAATACCCAGATTTGCTAGACTGTCTACCTATCTTTGCGTCCCACTGCCAATATTTCCTACCTCTTTCCAGTAAGTCTCTTTTCCCACTTTTTACTCCATTACTCTTTAACTTATAATGTACTTTTTGCCTTCTTATGTTGAAACCAAATTCTGAACAGAATGAAAGATCTCCTGACTGACCTGGCTAGAGAAGGAGAAGCATTTCTTGGTGGGACTCAATGTAATGTCATAGACACTATGTCTGCAACTTGCTATTATCTCCACGGCCAATATACCAAACTTGTAGAAATATTCATGTTTTTGTGTTTCTAGTACTTCTCTTATGGAATTACCAGTTAATCATAGGGCCACGATGTACACCAAAACAATGTCATATATAAGATAAAATGTGCCCCCAGTGTTTTCCTAAGTTTAGCATCTACTTTCCAGTCACTCCTTTTGTACCTTCTCCCTAAAGCTGGCATTGGATTATTTGGCTATCGGAATTCAATGCTCCTGGTTGTCCTTCTGTTGCTTTTCCTTTTGAATCACGTGGTTTCTTGAAATAATCACAACTTGGACTTCCACCATGTGTTTTATATTTCTTTTGTCCACCCTCCTCTACCCTAAGAAAGAGCTCCCTACCCTTTAACGGATAGGCAGCTTTCTTTCCCCTCTAGAACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTGTCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTGCTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCCGCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGACTTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCCCAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGGCTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGCTTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTGGTAAGTGCCGTTGGCTTCCTGCGGCTCCTAAGCACCAATGCAGAATTTCCCAAAGCCTACAGTTGCTTTTCTGGTGGTTTCTTATTTTCTTCCTTTGTCTTGTTCTTGATCCTTGCCACACCATCTGTATTCCCCCTGCTTTCACACTTTCTGCTACCCAGGAGCTGGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCCAGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTTGGAGGCCGGAAGGCCCAGGAAGAGGAGGTGAGAAAAAAGATGTGCCGAGGCATCTCAGAGGAGCCTCAGCCAAACAGCTCATGAGCACAGTTCAGTCTTCCACTCTCAATAAGTGTTTGTTGAATGTGAATGAAAGAGAAAACTGTCACACCACAACTAGTCTGGATTATTCCCTTGGTCAGGCTTGAGTCTGAAATGAAAGTATGCCTTTGGAGCGAGCTACATCCTTCATCCTTGCTGTGAACAGAATAGCTTCTCTGTGCCATTCTCTAAGTTAAGTCGTGAGTGCCAGTATCTCCCTGAAATAACTGCCAGAGCCAGTTTGCAGGCAGGTGAAGATCATTAGGTTTCTTCCTGATCCAGTTGGGATAGCTGTTCTCTAGATCATAGCTCTTCCTCACCACAGATCCTAGGCTTCACCTACAACAGTCTCAAGCTGCCCTTTTCCTCAATCCATGACCAACATCTTTCCAGTTCAGATCGGAGTCTTGGGAACCTCAGAACGAGCTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCCAGTCCATATGCTGTGTACCTCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCAGCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGACCTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTAGAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAATCTATCAAAGGTGGGAGTTCGAGGTTATTACATCTTCACGCCCTCTTCCCAGTGTTGTCTCCCTGTCCTGATTCTACTTTTCTTTGATTACTTGCTTGAAACAGTCTCTCTTAAAACCTGAAGATAAAGGATTTAGAATATTGTCAAGAGCAACAGAGCAGAAGACTTAGAGCCTCACTACTTGTGTGGAAACACTGGCTTCTTCTGCTTCTTTTCAGCCACAAAGACAACATTCCTAAGTGGGTAGAGCCAGCAACCTGAATTCTATACCTCTGTATCTGAATAAACTTCTTTGTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTAGTAGCTGGGATTACAGACATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCTCCATGTTGGTCAGGCTGGTCTTCAACTCCCGACCTCAGGTGAACCTCCCACCTGAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCTGGCTGAACAAACTTTTTCAAGCTCTGTAATGCTGTCTAGTATCTGTCTTTACTAAAGGCCTGTTGTTTCTTAGTGCATGACTACATAGATATCTGATTATAAACTGAGACCTTAACACTCCCCCATCATTCTCTCACTTCTTTTAAACACTGGACACAAGTTAGAGAGATTTCCACACCAGATCATGACAAACACAAATTTCTTGGATTTTTTTTTTCCTCCCAATGTGGAGCTGAGCTCCATACTGTCTTTCCTAACTTTTATACCTAGGATTGTGGGGGTGTACCAAGAGGGGTCAACTCTTTGACTACAGTCCTGGGAGGGTGAGGTGGGGGTATCCATGTTTTCCTTAGGAAGTGGGGATAGCTGCAGTCAGAAACAACCATATTTAACAAGATTCTGGATGCTCCAGGACATGTATGCAGCTCTCTCCTCAATACAACTGCTTAAAAAAAGGCTGACACTTCTGGACACAACTCCTTTGCCAAACAGGGGAGGCAGTATAAGCCACCTGTTAATCAGTGTTACAAATCAGACATCTGGCATTTCGAAAGAGCCATTTTGCTTAAGTTTTCTTGGGACCACTTGAGGGTAGAGGTAACAGTTTTCTTGGTACAACTAAGGCACAGTAAGCATTTGATAATAGTAATAATAATGCAGCCTTGTTCATTGGCTGGATGACTGATGACAAGCAAGCTGTACTCCTTTTCATACACCCTTCACTATCTCTTCCTGAATCCTAGAGATAACCCATCTTCCCTGATTAATATTCTAACTGCACTGCTGTTTGATTTTACTTCTGAGTGTATCATCATCGTAATTATTTAATGGATGTTAATTAATTGCTGATAAAATATGTTGAAATTAAAAATGGGAAGGAAGTAGATAAGGTGCTGACAAATGCTCACTTGCTTATTTCATGTGATCAGGTCTTATTAATATCTGTTTGTTTCTCAGGTGATTTTAACCTCACTGACCCTGCAGAGAAACCCAACGGATCTATTCAAGTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTCCTGAAACCAGAAGCTCAGACTAAGGGGAAGGATACCAAGGACAGTTCAAAGATCTCATCTGAAGAGGAAAAGGCTTCATTTCCTTCCCAGGTAACTCTCCAGGACTCCACAGGTAGCAGATCTCTGCCAATCCTATGGAGCAGATTTGAAGGAGACAGTATTATAGTTGAAGTAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCATGGCAGGCGAATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGGG
|
Task1_train_19466
|
A mutation found in SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; not provided
|
TTTGTTAACAGTACCTCCCCTCAAAAAGTCTGAAGTGCTTTTGTGCTTTAAAATAAAAATTCCAACTTTTAAGTTCAGGAGTGCATGGGCAGGATTTGCAGGTTTGTTACACAGGTAAACGTGTGCCATGGTGGTTTGCTGCACAGATCATCCCTGAAGTGCTTTCGTTGCCCTTCATTCTCTCGTAACTATAAAACTAACATGTACATACACCTTTAATATTTAAGGTCACCATGCCATTACCTGTCAAGCTGAGTCTGCAACCTAAGCCTAAACTCTTGTAATACCCTATCTCAGCAGATACTTGAGTTGCTCTGCACAAACAGATTCAGGGTTGTTTATTTATTTATTTATTTATTTTTGGAGATGGAGTCTTGCTAGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTTGGCCCACAACCTCTGCCTCCCAGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACTACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGTGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCTGGCTATTTATTTATTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTATCCTGCCTTAGCCTCCCGACTAGCTGGGACTACCACCACCCACCACGCCCAGCTAATTTATGTATTTTTAGTACAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCCTCAGGTGATCTGCCCATGTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGTCACCACGCCAGCCCAGTTTGTTTATAAAATACAATCCCTGAGCTTGGATTTGGCCTCATCCTCCCTCACTATCCTGCAAATACAATACTAAATTTCACAAACCTGCTCAGCATAGAGGTCATCTCGGTCATGCATATGCTGATGTTTCCCCAAGTCCGTGGTTATCTCTCCCACTTCTGTGTAGAACTGCACATCCGTGTGCCGCTTCTTCCCAAACATGATGGCATTCTGTCGGCATAAAACAGAAAGAACACAGAAGTCAGAAACACAAAGGTATCTGTGATGGAAATGGCAGTGATCCAAACTTGGGCCTCCACAGCATGCATGCAAAAATAATTAAACCACCCCTGGTGTCATCATAAATAATGATGCTTGGGAATGGAAACAGTGTACATTTGAAAAAGTGCTGTGCTCCTACTTATTACAGGAACTTTGGAAATCATGTTGGTAACAAATCTTATCTAAAGCAAAACTTCATTTTAGAAAGAGAAATCTGGAGATCTCGTATAAAACATTTGCTGGCCACCATATAACACACCAAAGGAACAAACATGCTTATGAGCCCCTTCTAGATGCCAGGCCTTGTGGCCTTTAGAGGCATTATTTTATTTAATCCTCTTAAATGTTCTTAAGTGAGAGGTGATTTTTTCATCACTTTTTTGTTTTTTGTTTTTCACACGCTGTCGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCGGCCTCTCAAGTAGCTGGGATTACAGGCGCTGGCCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGTCAGGCTGGTGTCGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTGGGCATGAGCCACCGCGCCCAGCCCTTTCATCACTATTTTATAGGAAAGAAGCTGAGTGAAATGAAGTGTCTTGCCCAAGAGCTGACAGCTAGTTAAGTAGAAAGGTATACCTTGAGGTGAAAGTGCAAGACAATAATCATTTCTCCATCACAGGGCTGGAACAAAGCATGCTTAATATTATTGTACAAAATATCCACTTTGTCTCCTCGAACAGATGTGAAGCGGAAGCCTGGGGAAAAGAATGAAGAAATGTCAAGCAGTATAATTAAGTTAGGCCAAAAGGCACTGCAACTCTTCTGGCTGATTTGCACAGGGTCAGAGGAAACACCAACAGCTGTATAGAGCTTTCCTTTCCTTCTGGCCACACAGCAGTGTAAGTAGATTCCTCCCAGCATTTCCTTGTCATACTTTATTAGCACCATGCTTTAACCAACTGAGCTAACCGGCGGATGGCTCTTTGTCATATTTTATTATCTGATCTGTCATTCCTAACAAATGTGCCCTGAAGAGAAAGCCTAGGTACAGGAGAGATCATCCATACCATTGACATGGGCCTCCAGTGAGCCTTGCATCCTCTTTTGGGCAATATTTGGGCGAATGTATAGATCTTTCAGTTTCGGATTACTCCGGTTTAGATTGATCACCAGTGAGTCTTGTTTTACAATCCCCTAAGCAAGAAGAAAATTAATGTGAATTGTCACATATCCTTACAAGTCTCCAAAAAATACATGTCCTTCTTTGTGTAAGAATGTTTTGCCTGTGTTCAGGCTCACCTCCTTCTCTTTCTCTTCAGCTTCTCGAGTTTTATAACGTTTCTGTACTTCTTTAATAATTCGGAAAGCATTCTGAAGGTTCAAGGCTGGTACTGTCTGTTCTCCGGGTGCCTTAATATTTGATGCTCGGTATGTACTGCAGAAAAGCAACAGCATTTATAGACATTTCTTTTTCAGGCCAGGGAAATTGTACTGATTTACTTTATCTTCTAAGCAGCTTAATCTCTACTTTGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTGCCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCAATCTTAGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTCTTATTTGAAGATTCTACTGCAATATATGTTTATTACTTTTAACACTTATTTTCATAATTATTTTTTTTTTGAGACAAGGTCTCGTTCTGTTGCTCAGGCTGGATGGAGTACAGGCAAGATCAGGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGGAATCCTCTCACCTCAGCCTCCACAGTAGCTGGATGACGGGTGCACACCACCACCCCTGGTTAATTATTTTTTAGAAGAGACAAGGTCTCACTATATTACCCAGGCTCAAAATATGTTTAGTAAATATATAGTATCTTCAAGAAGATTCTAAATTGGGATCCATCCTGAAAATAGTACAAAGTCAAGAAGGCGATCCGAAACAAGTACCAATGAGGAAGGCTTTGACATTTACTAGGTAGGGAAAATGTAGCACAGACAATGAAATGTTTCTGAGAGTACCACTCCAGACAAGATGAATCTGGGTATGACTTTTCTTGGGGACTCACATTTCCTTGACAAAAGTCGCTTCAGGGTTAGGAAAGATGTTGCCTTCATTCCTGCCCAGAGCACTGCCTGGGCAATAAAAGTTGATTCGCAAGTAAGTATAATCTCCTTCCACGGACATACTTATATTCTGTTCAAAGGAAAAGCATAAAAAGTAAACAGATTTCTTTCCTAGAGATTAGTAGTTACAGAGATGTTAAAATTAAGTTAGGAGTTACAAATTGACCGCTCTTAACCTTAATCTAAATCTAATAAATTTACATAATTTATCTTTTTAATAACGAAGTATCCTTTTCCCAAAAAAATCTCTGAATTCTCAAAGTACCTTGTACCATGAATACAACTAAAAGTTAAACAATGATTAA
|
TTTGTTAACAGTACCTCCCCTCAAAAAGTCTGAAGTGCTTTTGTGCTTTAAAATAAAAATTCCAACTTTTAAGTTCAGGAGTGCATGGGCAGGATTTGCAGGTTTGTTACACAGGTAAACGTGTGCCATGGTGGTTTGCTGCACAGATCATCCCTGAAGTGCTTTCGTTGCCCTTCATTCTCTCGTAACTATAAAACTAACATGTACATACACCTTTAATATTTAAGGTCACCATGCCATTACCTGTCAAGCTGAGTCTGCAACCTAAGCCTAAACTCTTGTAATACCCTATCTCAGCAGATACTTGAGTTGCTCTGCACAAACAGATTCAGGGTTGTTTATTTATTTATTTATTTATTTTTGGAGATGGAGTCTTGCTAGTCGCCCAGGCTGGAGTGCGGTGGCGCGATCTTGGCCCACAACCTCTGCCTCCCAGGTTCATGCCATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCGCCACTACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGTGTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCTGGCTATTTATTTATTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCACTGCAACCTCTGCCTCTTGGGTTCAAGTGATTATCCTGCCTTAGCCTCCCGACTAGCTGGGACTACCACCACCCACCACGCCCAGCTAATTTATGTATTTTTAGTACAGACAGGGTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCTGACCCTCAGGTGATCTGCCCATGTTGGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGTCACCACGCCAGCCCAGTTTGTTTATAAAATACAATCCCTGAGCTTGGATTTGGCCTCATCCTCCCTCACTATCCTGCAAATACAATACTAAATTTCACAAACCTGCTCAGCATAGAGGTCATCTCGGTCATGCATATGCTGATGTTTCCCCAAGTCCGTGGTTATCTCTCCCACTTCTGTGTAGAACTGCACATCCGTGTGCCGCTTCTTCCCAAACATGATGGCATTCTGTCGGCATAAAACAGAAAGAACACAGAAGTCAGAAACACAAAGGTATCTGTGATGGAAATGGCAGTGATCCAAACTTGGGCCTCCACAGCATGCATGCAAAAATAATTAAACCACCCCTGGTGTCATCATAAATAATGATGCTTGGGAATGGAAACAGTGTACATTTGAAAAAGTGCTGTGCTCCTACTTATTACAGGAACTTTGGAAATCATGTTGGTAACAAATCTTATCTAAAGCAAAACTTCATTTTAGAAAGAGAAATCTGGAGATCTCGTATAAAACATTTGCTGGCCACCATATAACACACCAAAGGAACAAACATGCTTATGAGCCCCTTCTAGATGCCAGGCCTTGTGGCCTTTAGAGGCATTATTTTATTTAATCCTCTTAAATGTTCTTAAGTGAGAGGTGATTTTTTCATCACTTTTTTGTTTTTTGTTTTTCACACGCTGTCGCCCAGGCTGGAGTACAATGGCGCGATCTCGGCTCACTGCAACTTCCGCCTCCCAGGTTCAAGCAATTTTCCTGCCTCGGCCTCTCAAGTAGCTGGGATTACAGGCGCTGGCCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGTCAGGCTGGTGTCGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTGGGCATGAGCCACCGCGCCCAGCCCTTTCATCACTATTTTATAGGAAAGAAGCTGAGTGAAATGAAGTGTCTTGCCCAAGAGCTGACAGCTAGTTAAGTAGAAAGGTATACCTTGAGGTGAAAGTGCAAGACAATAATCATTTCTCCATCACAGGGCTGGAACAAAGCATGCTTAATATTATTGTACAAAATATCCACTTTGTCTCCTTGAACAGATGTGAAGCGGAAGCCTGGGGAAAAGAATGAAGAAATGTCAAGCAGTATAATTAAGTTAGGCCAAAAGGCACTGCAACTCTTCTGGCTGATTTGCACAGGGTCAGAGGAAACACCAACAGCTGTATAGAGCTTTCCTTTCCTTCTGGCCACACAGCAGTGTAAGTAGATTCCTCCCAGCATTTCCTTGTCATACTTTATTAGCACCATGCTTTAACCAACTGAGCTAACCGGCGGATGGCTCTTTGTCATATTTTATTATCTGATCTGTCATTCCTAACAAATGTGCCCTGAAGAGAAAGCCTAGGTACAGGAGAGATCATCCATACCATTGACATGGGCCTCCAGTGAGCCTTGCATCCTCTTTTGGGCAATATTTGGGCGAATGTATAGATCTTTCAGTTTCGGATTACTCCGGTTTAGATTGATCACCAGTGAGTCTTGTTTTACAATCCCCTAAGCAAGAAGAAAATTAATGTGAATTGTCACATATCCTTACAAGTCTCCAAAAAATACATGTCCTTCTTTGTGTAAGAATGTTTTGCCTGTGTTCAGGCTCACCTCCTTCTCTTTCTCTTCAGCTTCTCGAGTTTTATAACGTTTCTGTACTTCTTTAATAATTCGGAAAGCATTCTGAAGGTTCAAGGCTGGTACTGTCTGTTCTCCGGGTGCCTTAATATTTGATGCTCGGTATGTACTGCAGAAAAGCAACAGCATTTATAGACATTTCTTTTTCAGGCCAGGGAAATTGTACTGATTTACTTTATCTTCTAAGCAGCTTAATCTCTACTTTGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTGCCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCAATCTTAGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTCTTATTTGAAGATTCTACTGCAATATATGTTTATTACTTTTAACACTTATTTTCATAATTATTTTTTTTTTGAGACAAGGTCTCGTTCTGTTGCTCAGGCTGGATGGAGTACAGGCAAGATCAGGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGGAATCCTCTCACCTCAGCCTCCACAGTAGCTGGATGACGGGTGCACACCACCACCCCTGGTTAATTATTTTTTAGAAGAGACAAGGTCTCACTATATTACCCAGGCTCAAAATATGTTTAGTAAATATATAGTATCTTCAAGAAGATTCTAAATTGGGATCCATCCTGAAAATAGTACAAAGTCAAGAAGGCGATCCGAAACAAGTACCAATGAGGAAGGCTTTGACATTTACTAGGTAGGGAAAATGTAGCACAGACAATGAAATGTTTCTGAGAGTACCACTCCAGACAAGATGAATCTGGGTATGACTTTTCTTGGGGACTCACATTTCCTTGACAAAAGTCGCTTCAGGGTTAGGAAAGATGTTGCCTTCATTCCTGCCCAGAGCACTGCCTGGGCAATAAAAGTTGATTCGCAAGTAAGTATAATCTCCTTCCACGGACATACTTATATTCTGTTCAAAGGAAAAGCATAAAAAGTAAACAGATTTCTTTCCTAGAGATTAGTAGTTACAGAGATGTTAAAATTAAGTTAGGAGTTACAAATTGACCGCTCTTAACCTTAATCTAAATCTAATAAATTTACATAATTTATCTTTTTAATAACGAAGTATCCTTTTCCCAAAAAAATCTCTGAATTCTCAAAGTACCTTGTACCATGAATACAACTAAAAGTTAAACAATGATTAA
|
Task1_train_19467
|
A genomic change on Chromosome 14 affects SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
|
GTTGGTCAGGCTGGTGTCGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTGGGCATGAGCCACCGCGCCCAGCCCTTTCATCACTATTTTATAGGAAAGAAGCTGAGTGAAATGAAGTGTCTTGCCCAAGAGCTGACAGCTAGTTAAGTAGAAAGGTATACCTTGAGGTGAAAGTGCAAGACAATAATCATTTCTCCATCACAGGGCTGGAACAAAGCATGCTTAATATTATTGTACAAAATATCCACTTTGTCTCCTCGAACAGATGTGAAGCGGAAGCCTGGGGAAAAGAATGAAGAAATGTCAAGCAGTATAATTAAGTTAGGCCAAAAGGCACTGCAACTCTTCTGGCTGATTTGCACAGGGTCAGAGGAAACACCAACAGCTGTATAGAGCTTTCCTTTCCTTCTGGCCACACAGCAGTGTAAGTAGATTCCTCCCAGCATTTCCTTGTCATACTTTATTAGCACCATGCTTTAACCAACTGAGCTAACCGGCGGATGGCTCTTTGTCATATTTTATTATCTGATCTGTCATTCCTAACAAATGTGCCCTGAAGAGAAAGCCTAGGTACAGGAGAGATCATCCATACCATTGACATGGGCCTCCAGTGAGCCTTGCATCCTCTTTTGGGCAATATTTGGGCGAATGTATAGATCTTTCAGTTTCGGATTACTCCGGTTTAGATTGATCACCAGTGAGTCTTGTTTTACAATCCCCTAAGCAAGAAGAAAATTAATGTGAATTGTCACATATCCTTACAAGTCTCCAAAAAATACATGTCCTTCTTTGTGTAAGAATGTTTTGCCTGTGTTCAGGCTCACCTCCTTCTCTTTCTCTTCAGCTTCTCGAGTTTTATAACGTTTCTGTACTTCTTTAATAATTCGGAAAGCATTCTGAAGGTTCAAGGCTGGTACTGTCTGTTCTCCGGGTGCCTTAATATTTGATGCTCGGTATGTACTGCAGAAAAGCAACAGCATTTATAGACATTTCTTTTTCAGGCCAGGGAAATTGTACTGATTTACTTTATCTTCTAAGCAGCTTAATCTCTACTTTGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTGCCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCAATCTTAGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTCTTATTTGAAGATTCTACTGCAATATATGTTTATTACTTTTAACACTTATTTTCATAATTATTTTTTTTTTGAGACAAGGTCTCGTTCTGTTGCTCAGGCTGGATGGAGTACAGGCAAGATCAGGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGGAATCCTCTCACCTCAGCCTCCACAGTAGCTGGATGACGGGTGCACACCACCACCCCTGGTTAATTATTTTTTAGAAGAGACAAGGTCTCACTATATTACCCAGGCTCAAAATATGTTTAGTAAATATATAGTATCTTCAAGAAGATTCTAAATTGGGATCCATCCTGAAAATAGTACAAAGTCAAGAAGGCGATCCGAAACAAGTACCAATGAGGAAGGCTTTGACATTTACTAGGTAGGGAAAATGTAGCACAGACAATGAAATGTTTCTGAGAGTACCACTCCAGACAAGATGAATCTGGGTATGACTTTTCTTGGGGACTCACATTTCCTTGACAAAAGTCGCTTCAGGGTTAGGAAAGATGTTGCCTTCATTCCTGCCCAGAGCACTGCCTGGGCAATAAAAGTTGATTCGCAAGTAAGTATAATCTCCTTCCACGGACATACTTATATTCTGTTCAAAGGAAAAGCATAAAAAGTAAACAGATTTCTTTCCTAGAGATTAGTAGTTACAGAGATGTTAAAATTAAGTTAGGAGTTACAAATTGACCGCTCTTAACCTTAATCTAAATCTAATAAATTTACATAATTTATCTTTTTAATAACGAAGTATCCTTTTCCCAAAAAAATCTCTGAATTCTCAAAGTACCTTGTACCATGAATACAACTAAAAGTTAAACAATGATTAAACGAAGTTGAAAGAAAGATAGGCAAATTATGTTTCTAGACTAGTTTAGCTTTCTACTAAGTGAAAAAAACTGAAAGAGGAAGGAGAATGACAAGACAAGAGGGATGTCAGTAACTGAACAGAGTCTGAAGGAGTCAAAAGTGGGAGACATGATGAATGCAGATTATTTATGGCAAATACAATTACTATTTTAAGCAACAGTTTGGATGAAACCTGATGCACTGAATGTCAGTACCTTGATTGTGGCAATGTGAAACGGTGTTGCAATGCCAAACACGGGCATTATTACAGTCTCATATTTCTTATCGATGTAGATCTTCATTTCCCGAATATGTGGTTCCTTAGGCATCAGAGATGGGTTTTTATAGGACACATTAGACTTGCGAGCTCTGGAGTGGGATAAAAAAACAACTGAGAAATTTCTGCAGTCCCACAGAACCCTCAGATGATCTCACTGCTCAGTGAAAACTCTTACTTCTGAATCTGCTGTTCTCCCTTTTGTTCAGTCAATCGCCTCTTTGCTTCTTCATTGAGTTGAGCCGCTAGTTCTTTCTGATGTGCTCTTCGCTTCTCTTCTGCAGTCATTTCATTCTGGTGAATGGAAAATCCAATTTATCACAACACGTGAGCCATATGACAGCCGAGATCAATGTAATTTAAAATAGTAAACTTACTCTTGTTCTTTCTGTAAGTAATGCTGCCCGAGAACCTCTTCCCAAAAGGTCCTCTGCCTCATCTTTCTCCTCCTCCTCTTCTTCCTCATCTTCATTCTATGGAAAAAGTCATAATCAAAAAATGAAATTTTAATTATTTTAGCCAATATTATTTAACTTCTTTATATCCTAAACTTCCTATACTACTTATCTATCTTCTTCCTACCTTTAGGAAAATCCCCACATTCTTCACTTTCTTCTTCACAGAAGTGAGAACAGTAGCTGGGCCATCCTAGAATTAAAAGGAGAATGAAGACACATTATTTAAAAGAGGCAATTTCATTTTCTAACCTAGTAAACGGCTGGGCAATGCTTTGAATCTTTTGGACACTAAAATGTTTGACAATGAATAAATATAGTTTTTATCCTTCTAACCTCTAACCTCTCGTCAGGAGCTACAATTTTTTTTCTTTTTCTTTTTTTTGAGACAGAGTTTCACTCTTGTCAACGAGGCTGGAGTGCAATGGCGTGACCTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGACGCGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGCCGGGGATTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCGAAAGTGCTAGGATTACACGCGTGAGCCACTGCGCCCAGCCAAGAGCTACAATTTGGGAGGCAACATTGGGTAATCACTAATACAGGTTTGATTTGAAGCCTGGCTCAGTTGCTTTCTACCTCAGTGACATTTGGCAAGTTACTTAAACTTGTCTGTGCCTTCAATTTATCTGTAAATGGAGGTAATAAGAGTATCTACTTCACAAGGTACTATTTCAATGAATTAATGTAAACTGCTTAGCTTATGATAAAAACACTGAACTATCTGTGCTCACTATTATTAAAAATCAGTTCGCTGAGGGAAAGAAGCCAGTCACAAAAGACCACATAGGGTATGACTGAATTTACATCAACTGCTCAGATATTTAGCAAATCCTTAGAGAGAACG
|
GTTGGTCAGGCTGGTGTCGAACTCCCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTGGGCATGAGCCACCGCGCCCAGCCCTTTCATCACTATTTTATAGGAAAGAAGCTGAGTGAAATGAAGTGTCTTGCCCAAGAGCTGACAGCTAGTTAAGTAGAAAGGTATACCTTGAGGTGAAAGTGCAAGACAATAATCATTTCTCCATCACAGGGCTGGAACAAAGCATGCTTAATATTATTGTACAAAATATCCACTTTGTCTCCTCGAACAGATGTGAAGCGGAAGCCTGGGGAAAAGAATGAAGAAATGTCAAGCAGTATAATTAAGTTAGGCCAAAAGGCACTGCAACTCTTCTGGCTGATTTGCACAGGGTCAGAGGAAACACCAACAGCTGTATAGAGCTTTCCTTTCCTTCTGGCCACACAGCAGTGTAAGTAGATTCCTCCCAGCATTTCCTTGTCATACTTTATTAGCACCATGCTTTAACCAACTGAGCTAACCGGCGGATGGCTCTTTGTCATATTTTATTATCTGATCTGTCATTCCTAACAAATGTGCCCTGAAGAGAAAGCCTAGGTACAGGAGAGATCATCCATACCATTGACATGGGCCTCCAGTGAGCCTTGCATCCTCTTTTGGGCAATATTTGGGCGAATGTATAGATCTTTCAGTTTCGGATTACTCCGGTTTAGATTGATCACCAGTGAGTCTTGTTTTACAATCCCCTAAGCAAGAAGAAAATTAATGTGAATTGTCACATATCCTTACAAGTCTCCAAAAAATACATGTCCTTCTTTGTGTAAGAATGTTTTGCCTGTGTTCAGGCTCACCTCCTTCTCTTTCTCTTCAGCTTCTCGAGTTTTATAACGTTTCTGTACTTCTTTAATAATTCGGAAAGCATTCTGAAGGTTCAAGGCTGGTACTGTCTGTTCTCCGGGTGCCTTAATATTTGATGCTCGGTATGTACTGCAGAAAAGCAACAGCATTTATAGACATTTCTTTTTCAGGCCAGGGAAATTGTACTGATTTACTTTATCTTCTAAGCAGCTTAATCTCTACTTTGCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTGTGCCTCTGTCACCCAGGCTGGAGTGCAGTGGCCCAATCTTAGCTCACTGCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTCTTATTTGAAGATTCTACTGCAATATATGTTTATTACTTTTAACACTTATTTTCATAATTATTTTTTTTTTGAGACAAGGTCTCGTTCTGTTGCTCAGGCTGGATGGAGTACAGGCAAGATCAGGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGGAATCCTCTCACCTCAGCCTCCACAGTAGCTGGATGACGGGTGCACACCACCACCCCTGGTTAATTATTTTTTAGAAGAGACAAGGTCTCACTATATTACCCAGGCTCAAAATATGTTTAGTAAATATATAGTATCTTCAAGAAGATTCTAAATTGGGATCCATCCTGAAAATAGTACAAAGTCAAGAAGGCGATCCGAAACAAGTACCAATGAGGAAGGCTTTGACATTTACTAGGTAGGGAAAATGTAGCACAGACAATGAAATGTTTCTGAGAGTACCACTCCAGACAAGATGAATCTGGGTATGACTTTTCTTGGGGACTCACATTTCCTTGACAAAAGTCGCTTCAGGGTTAGGAAAGATGTTGCCTTCATTCCTGCCCAGAGCACTGCCTGGGCAATAAAAGCTGATTCGCAAGTAAGTATAATCTCCTTCCACGGACATACTTATATTCTGTTCAAAGGAAAAGCATAAAAAGTAAACAGATTTCTTTCCTAGAGATTAGTAGTTACAGAGATGTTAAAATTAAGTTAGGAGTTACAAATTGACCGCTCTTAACCTTAATCTAAATCTAATAAATTTACATAATTTATCTTTTTAATAACGAAGTATCCTTTTCCCAAAAAAATCTCTGAATTCTCAAAGTACCTTGTACCATGAATACAACTAAAAGTTAAACAATGATTAAACGAAGTTGAAAGAAAGATAGGCAAATTATGTTTCTAGACTAGTTTAGCTTTCTACTAAGTGAAAAAAACTGAAAGAGGAAGGAGAATGACAAGACAAGAGGGATGTCAGTAACTGAACAGAGTCTGAAGGAGTCAAAAGTGGGAGACATGATGAATGCAGATTATTTATGGCAAATACAATTACTATTTTAAGCAACAGTTTGGATGAAACCTGATGCACTGAATGTCAGTACCTTGATTGTGGCAATGTGAAACGGTGTTGCAATGCCAAACACGGGCATTATTACAGTCTCATATTTCTTATCGATGTAGATCTTCATTTCCCGAATATGTGGTTCCTTAGGCATCAGAGATGGGTTTTTATAGGACACATTAGACTTGCGAGCTCTGGAGTGGGATAAAAAAACAACTGAGAAATTTCTGCAGTCCCACAGAACCCTCAGATGATCTCACTGCTCAGTGAAAACTCTTACTTCTGAATCTGCTGTTCTCCCTTTTGTTCAGTCAATCGCCTCTTTGCTTCTTCATTGAGTTGAGCCGCTAGTTCTTTCTGATGTGCTCTTCGCTTCTCTTCTGCAGTCATTTCATTCTGGTGAATGGAAAATCCAATTTATCACAACACGTGAGCCATATGACAGCCGAGATCAATGTAATTTAAAATAGTAAACTTACTCTTGTTCTTTCTGTAAGTAATGCTGCCCGAGAACCTCTTCCCAAAAGGTCCTCTGCCTCATCTTTCTCCTCCTCCTCTTCTTCCTCATCTTCATTCTATGGAAAAAGTCATAATCAAAAAATGAAATTTTAATTATTTTAGCCAATATTATTTAACTTCTTTATATCCTAAACTTCCTATACTACTTATCTATCTTCTTCCTACCTTTAGGAAAATCCCCACATTCTTCACTTTCTTCTTCACAGAAGTGAGAACAGTAGCTGGGCCATCCTAGAATTAAAAGGAGAATGAAGACACATTATTTAAAAGAGGCAATTTCATTTTCTAACCTAGTAAACGGCTGGGCAATGCTTTGAATCTTTTGGACACTAAAATGTTTGACAATGAATAAATATAGTTTTTATCCTTCTAACCTCTAACCTCTCGTCAGGAGCTACAATTTTTTTTCTTTTTCTTTTTTTTGAGACAGAGTTTCACTCTTGTCAACGAGGCTGGAGTGCAATGGCGTGACCTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGACGCGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGCCGGGGATTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCGAAAGTGCTAGGATTACACGCGTGAGCCACTGCGCCCAGCCAAGAGCTACAATTTGGGAGGCAACATTGGGTAATCACTAATACAGGTTTGATTTGAAGCCTGGCTCAGTTGCTTTCTACCTCAGTGACATTTGGCAAGTTACTTAAACTTGTCTGTGCCTTCAATTTATCTGTAAATGGAGGTAATAAGAGTATCTACTTCACAAGGTACTATTTCAATGAATTAATGTAAACTGCTTAGCTTATGATAAAAACACTGAACTATCTGTGCTCACTATTATTAAAAATCAGTTCGCTGAGGGAAAGAAGCCAGTCACAAAAGACCACATAGGGTATGACTGAATTTACATCAACTGCTCAGATATTTAGCAAATCCTTAGAGAGAACG
|
Task1_train_19468
|
This is a variant in SUPT16H (SPT16 homolog, facilitates chromatin remodeling subunit), located on Chromosome 14. Is this mutation a likely cause of disease or not?
|
Pathogenic; Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
|
GCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTCTTATTTGAAGATTCTACTGCAATATATGTTTATTACTTTTAACACTTATTTTCATAATTATTTTTTTTTTGAGACAAGGTCTCGTTCTGTTGCTCAGGCTGGATGGAGTACAGGCAAGATCAGGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGGAATCCTCTCACCTCAGCCTCCACAGTAGCTGGATGACGGGTGCACACCACCACCCCTGGTTAATTATTTTTTAGAAGAGACAAGGTCTCACTATATTACCCAGGCTCAAAATATGTTTAGTAAATATATAGTATCTTCAAGAAGATTCTAAATTGGGATCCATCCTGAAAATAGTACAAAGTCAAGAAGGCGATCCGAAACAAGTACCAATGAGGAAGGCTTTGACATTTACTAGGTAGGGAAAATGTAGCACAGACAATGAAATGTTTCTGAGAGTACCACTCCAGACAAGATGAATCTGGGTATGACTTTTCTTGGGGACTCACATTTCCTTGACAAAAGTCGCTTCAGGGTTAGGAAAGATGTTGCCTTCATTCCTGCCCAGAGCACTGCCTGGGCAATAAAAGTTGATTCGCAAGTAAGTATAATCTCCTTCCACGGACATACTTATATTCTGTTCAAAGGAAAAGCATAAAAAGTAAACAGATTTCTTTCCTAGAGATTAGTAGTTACAGAGATGTTAAAATTAAGTTAGGAGTTACAAATTGACCGCTCTTAACCTTAATCTAAATCTAATAAATTTACATAATTTATCTTTTTAATAACGAAGTATCCTTTTCCCAAAAAAATCTCTGAATTCTCAAAGTACCTTGTACCATGAATACAACTAAAAGTTAAACAATGATTAAACGAAGTTGAAAGAAAGATAGGCAAATTATGTTTCTAGACTAGTTTAGCTTTCTACTAAGTGAAAAAAACTGAAAGAGGAAGGAGAATGACAAGACAAGAGGGATGTCAGTAACTGAACAGAGTCTGAAGGAGTCAAAAGTGGGAGACATGATGAATGCAGATTATTTATGGCAAATACAATTACTATTTTAAGCAACAGTTTGGATGAAACCTGATGCACTGAATGTCAGTACCTTGATTGTGGCAATGTGAAACGGTGTTGCAATGCCAAACACGGGCATTATTACAGTCTCATATTTCTTATCGATGTAGATCTTCATTTCCCGAATATGTGGTTCCTTAGGCATCAGAGATGGGTTTTTATAGGACACATTAGACTTGCGAGCTCTGGAGTGGGATAAAAAAACAACTGAGAAATTTCTGCAGTCCCACAGAACCCTCAGATGATCTCACTGCTCAGTGAAAACTCTTACTTCTGAATCTGCTGTTCTCCCTTTTGTTCAGTCAATCGCCTCTTTGCTTCTTCATTGAGTTGAGCCGCTAGTTCTTTCTGATGTGCTCTTCGCTTCTCTTCTGCAGTCATTTCATTCTGGTGAATGGAAAATCCAATTTATCACAACACGTGAGCCATATGACAGCCGAGATCAATGTAATTTAAAATAGTAAACTTACTCTTGTTCTTTCTGTAAGTAATGCTGCCCGAGAACCTCTTCCCAAAAGGTCCTCTGCCTCATCTTTCTCCTCCTCCTCTTCTTCCTCATCTTCATTCTATGGAAAAAGTCATAATCAAAAAATGAAATTTTAATTATTTTAGCCAATATTATTTAACTTCTTTATATCCTAAACTTCCTATACTACTTATCTATCTTCTTCCTACCTTTAGGAAAATCCCCACATTCTTCACTTTCTTCTTCACAGAAGTGAGAACAGTAGCTGGGCCATCCTAGAATTAAAAGGAGAATGAAGACACATTATTTAAAAGAGGCAATTTCATTTTCTAACCTAGTAAACGGCTGGGCAATGCTTTGAATCTTTTGGACACTAAAATGTTTGACAATGAATAAATATAGTTTTTATCCTTCTAACCTCTAACCTCTCGTCAGGAGCTACAATTTTTTTTCTTTTTCTTTTTTTTGAGACAGAGTTTCACTCTTGTCAACGAGGCTGGAGTGCAATGGCGTGACCTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGACGCGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGCCGGGGATTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCGAAAGTGCTAGGATTACACGCGTGAGCCACTGCGCCCAGCCAAGAGCTACAATTTGGGAGGCAACATTGGGTAATCACTAATACAGGTTTGATTTGAAGCCTGGCTCAGTTGCTTTCTACCTCAGTGACATTTGGCAAGTTACTTAAACTTGTCTGTGCCTTCAATTTATCTGTAAATGGAGGTAATAAGAGTATCTACTTCACAAGGTACTATTTCAATGAATTAATGTAAACTGCTTAGCTTATGATAAAAACACTGAACTATCTGTGCTCACTATTATTAAAAATCAGTTCGCTGAGGGAAAGAAGCCAGTCACAAAAGACCACATAGGGTATGACTGAATTTACATCAACTGCTCAGATATTTAGCAAATCCTTAGAGAGAACGCAGTTTAGTCATTGCCTAGGCCTGAAGAACCAGTGGGGGAAGGGAAGGGGGATGGGGAGTGACTGCTAATAGGTTCAGGGTTCTTTCCTGAGGTGATGAAAATATTTTCAAATTAGATTGTAGTGATGGTTACACAAATGTGAAAATACTAAAAATCACTAAATTGTACATATCAGGTGGGTGAATTGTATAGTATGTGAATTGTAGCTCAATAAAGCTGTTATTAAAAAGAAAAAAGAATAACCGGTTTCATTATTAGTATTAGTTCCTGATATTATCATTATCAAGGTTCAAGCCACAATATGACAATATGATTTAAAGGTTTATATCATTCCCTATACCTGGGCTACAGTCTCTATTCCTAGCTGCATTAGGTTAGGCTGTCACACGGATTCTTCCCCTTAGCTAGCATTTAACAAAGCAAGAAAAAAACCACAGGGTCCACAAACGTGCCTCAGAAGTTAGTTCATGAAGACTCCAAAGTTTAGACACAATACACACCTCATCCACAAGCACTGTGTCACCAATGAACAGGGCATAGGTTTTCTCTTCTGGCTTTTTCCCCTCCTTGTTAGTCAGGTCTGAGAATCCTAAATTGATGCTGAAAACCATTCCTAAAACAGCAAAACAAGGATCAGTCTGTGGCTGTGACAATGTGGAGAGGTGTGAGACATATGCCTAAAAGAAAATAAAGCTAAAGGAAGTAACTCACAAAAGCATTTTCCTATTGTATGTGAAACTTACCTTTCTTCAGTTTGTATTGATTTTTGCTATTGATTACTAGGGAGCCTTCACGGAATTCAATTCCCATCCCAAACCTGAAAAGAAACAGATAAACATCAGCAAAAGGCTAAAGATCTCTAACATGGATCAAGCATAACATATTCATTTCAACTTTCACAATAAGACAGGCAAACATGTTTGAAATGATTTACCCCTGCTGACCGCTCAGTTAGAAAAGAGGATTCAAAGACAGTCTTTGGCCTCTAAACATGCTGTATAATCCCATGGCGAAAAATAATTTCCTAATTGATTATATCGAGCCTTTTTAATTTTAGCTTATTTGCCCACATTTAAACTTTAACCTTCTACCATAAAATCAAGTCAGTAGTACTCCTAGAAACAACATAGAGATTATTAAGGGGTACATTACTAAGACAGTAA
|
GCAACCTTCGCCTCCTGGGTTCAAGCCATCCTCCCACCTCAGCCTTCCAAGTACCTGGGATTACAGGTACACACCACCATGCCCGGCTAGTTTTTGTATTTTTAGCAGATACAGGGTTTTGCCATGTTGACCAGGCTGGTCTTGAACTCCTGGCCTCATGTAATCTGCCTGCCTCTGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCATGCATGCCCATTCCTTCTTTTTTCATTTTTCAAATCTGGTATAACATCCCCAAATTATCCCATTTCACACCATGAAATCATAGAATCCAATGTGGCACCAGTTTTCTTATTTGAAGATTCTACTGCAATATATGTTTATTACTTTTAACACTTATTTTCATAATTATTTTTTTTTTGAGACAAGGTCTCGTTCTGTTGCTCAGGCTGGATGGAGTACAGGCAAGATCAGGGCTCACTGCAGCCTCAACCTCCCAGGCTCAAGGAATCCTCTCACCTCAGCCTCCACAGTAGCTGGATGACGGGTGCACACCACCACCCCTGGTTAATTATTTTTTAGAAGAGACAAGGTCTCACTATATTACCCAGGCTCAAAATATGTTTAGTAAATATATAGTATCTTCAAGAAGATTCTAAATTGGGATCCATCCTGAAAATAGTACAAAGTCAAGAAGGCGATCCGAAACAAGTACCAATGAGGAAGGCTTTGACATTTACTAGGTAGGGAAAATGTAGCACAGACAATGAAATGTTTCTGAGAGTACCACTCCAGACAAGATGAATCTGGGTATGACTTTTCTTGGGGACTCACATTTCCTTGACAAAAGTCGCTTCAGGGTTAGGAAAGATGTTGCCTTCATTCCTGCCCAGAGCACTGCCTGGGCAATAAAAGTTGATTCGCAAGTAAGTATAATCTCCTTCCACGGACATACTTATATTCTGTTCAAAGGAAAAGCATAAAAAGTAAACAGATTTCTTTCCTAGAGATTAGTAGTTACAGAGATGTTAAAATTAAGTTAGGAGTTACAAATTGACCGCTCTTAACCTTAATCTAAATCTAATAAATTTACATAATTTATCTTTTTAATAACGAAGTATCCTTTTCCCAAAAAAATCTCTGAATTCTCAAAGTACCTTGTACCATGAATACAACTAAAAGTTAAACAATGATTAAACGAAGTTGAAAGAAAGATAGGCAAATTATGTTTCTAGACTAGTTTAGCTTTCTACTAAGTGAAAAAAACTGAAAGAGGAAGGAGAATGACAAGACAAGAGGGATGTCAGTAACTGAACAGAGTCTGAAGGAGTCAAAAGTGGGAGACATGATGAATGCAGATTATTTATGGCAAATACAATTACTATTTTAAGCAACAGTTTGGATGAAACCTGATGCACTGAATGTCAGTACCTTGATTGTGGCAATGTGAAACGGTGTTGCAATGCCAAACACGGGCATTATTACAGTCTCATATTTCTTATCGATGTAGATCTTCATTTCCCGAATATGTGGTTCCTTAGGCATCAGAGATGGGTTTTTATAGGACACATTAGACTTGCGAGCTCTGGAGTGGGATAAAAAAACAACTGAGAAATTTCTGCAGTCCCACAGAACCCTCAGATGATCTCACTGCTCAGTGAAAACTCTTACTTCTGAATCTGCTGTTCTCCCTTTTGTTCAGTCAATCGCCTCTTTGCTTCTTCATTGAGTTGAGCCGCTAGTTCTTTCTGATGTGCTCTTCGCTTCTCTTCTGCAGTCATTTCATTCTGGTGAATGGAAAATCCAATTTATCACAACACGTGAGCCATATGACAGCCGAGATCAATGTAATTTAAAATAGTAAACTTACTCTTGTTCTTTCTGTAAGTAATGCTGCCCGAGAACCTCTTCCCAAAAGGTCCTCTGCCTCATCTTTCTCCTCCTCCTCTTCTTCCTCATCTTCATTCTATGGAAAAAGTCATAATCAAAAAATGAAATTTTAATTATTTTAGCCAATATTATTTAACTTCTTTATATCCTAAACTTCCTATACTACTTATCTATCTTCTTCCTACCTTTGGGAAAATCCCCACATTCTTCACTTTCTTCTTCACAGAAGTGAGAACAGTAGCTGGGCCATCCTAGAATTAAAAGGAGAATGAAGACACATTATTTAAAAGAGGCAATTTCATTTTCTAACCTAGTAAACGGCTGGGCAATGCTTTGAATCTTTTGGACACTAAAATGTTTGACAATGAATAAATATAGTTTTTATCCTTCTAACCTCTAACCTCTCGTCAGGAGCTACAATTTTTTTTCTTTTTCTTTTTTTTGAGACAGAGTTTCACTCTTGTCAACGAGGCTGGAGTGCAATGGCGTGACCTCAGCTCACTGCAACCTCCGCCTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGACGCGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGCCGGGGATTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCGAAAGTGCTAGGATTACACGCGTGAGCCACTGCGCCCAGCCAAGAGCTACAATTTGGGAGGCAACATTGGGTAATCACTAATACAGGTTTGATTTGAAGCCTGGCTCAGTTGCTTTCTACCTCAGTGACATTTGGCAAGTTACTTAAACTTGTCTGTGCCTTCAATTTATCTGTAAATGGAGGTAATAAGAGTATCTACTTCACAAGGTACTATTTCAATGAATTAATGTAAACTGCTTAGCTTATGATAAAAACACTGAACTATCTGTGCTCACTATTATTAAAAATCAGTTCGCTGAGGGAAAGAAGCCAGTCACAAAAGACCACATAGGGTATGACTGAATTTACATCAACTGCTCAGATATTTAGCAAATCCTTAGAGAGAACGCAGTTTAGTCATTGCCTAGGCCTGAAGAACCAGTGGGGGAAGGGAAGGGGGATGGGGAGTGACTGCTAATAGGTTCAGGGTTCTTTCCTGAGGTGATGAAAATATTTTCAAATTAGATTGTAGTGATGGTTACACAAATGTGAAAATACTAAAAATCACTAAATTGTACATATCAGGTGGGTGAATTGTATAGTATGTGAATTGTAGCTCAATAAAGCTGTTATTAAAAAGAAAAAAGAATAACCGGTTTCATTATTAGTATTAGTTCCTGATATTATCATTATCAAGGTTCAAGCCACAATATGACAATATGATTTAAAGGTTTATATCATTCCCTATACCTGGGCTACAGTCTCTATTCCTAGCTGCATTAGGTTAGGCTGTCACACGGATTCTTCCCCTTAGCTAGCATTTAACAAAGCAAGAAAAAAACCACAGGGTCCACAAACGTGCCTCAGAAGTTAGTTCATGAAGACTCCAAAGTTTAGACACAATACACACCTCATCCACAAGCACTGTGTCACCAATGAACAGGGCATAGGTTTTCTCTTCTGGCTTTTTCCCCTCCTTGTTAGTCAGGTCTGAGAATCCTAAATTGATGCTGAAAACCATTCCTAAAACAGCAAAACAAGGATCAGTCTGTGGCTGTGACAATGTGGAGAGGTGTGAGACATATGCCTAAAAGAAAATAAAGCTAAAGGAAGTAACTCACAAAAGCATTTTCCTATTGTATGTGAAACTTACCTTTCTTCAGTTTGTATTGATTTTTGCTATTGATTACTAGGGAGCCTTCACGGAATTCAATTCCCATCCCAAACCTGAAAAGAAACAGATAAACATCAGCAAAAGGCTAAAGATCTCTAACATGGATCAAGCATAACATATTCATTTCAACTTTCACAATAAGACAGGCAAACATGTTTGAAATGATTTACCCCTGCTGACCGCTCAGTTAGAAAAGAGGATTCAAAGACAGTCTTTGGCCTCTAAACATGCTGTATAATCCCATGGCGAAAAATAATTTCCTAATTGATTATATCGAGCCTTTTTAATTTTAGCTTATTTGCCCACATTTAAACTTTAACCTTCTACCATAAAATCAAGTCAGTAGTACTCCTAGAAACAACATAGAGATTATTAAGGGGTACATTACTAAGACAGTAA
|
Task1_train_19469
|
A variant affecting Chromosome 14, within the gene CHD8 (chromodomain helicase DNA binding protein 8), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Intellectual developmental disorder with autism and macrocephaly
|
GTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCACCTGCAATTTTATTTATCCCATTAAACGTCTCAAAAAAGATGTAGATTAAGTGCCATTACTTTTATTTTATAGAAAAAAAAGTATTCTTTTAAAAAAAAGACATTCTAATTCACAAAGTCACTTGGCTGAAAGTTAACGCTTACTGTTTTTAGTGCCTGGGATTTGGCATTAGGCAAAACTGCTATAAGAGTAAGGAAATATTCTTACCCCCACTGCATTTTTGTTTTGGCTAGTCAGTCTCCCTTCTTATACTCTACTTTTATTTCACTCAAAAACTGCTGCCTCATACCTATATCAGAGAGACTGCTGAACATTTAGACAAATGGGACATGTAGAAAAACAGAAGATTTTCAGCTCTTTCTCTTTAGTGAGGCAGCCAAGCTGACATAGAGATGCAGATCTCTGTAAAGACCCTCACAGGCAAAACCATCACCCTTGAGGTCCAGCCGAGTGACACCAGTGAAAATGTCAAAGCCAAGATCCACGACAAGGAGGGCATCCCACCTGACCAGCAGCATCTGATATTTGTGAACAAACAGTTGGAGGATGGCCGTACTCTTTCAGACTGTAACATCCAGAAAGAGTCCACCCTGCAGGTGGTGCTTTGCCTCTGAGGTGACATTATTGAGCCTTCCCTCTGCCTACTCACCCAGAAATACAACTGCGACAAGATGATCTGCTGCAATTGTTATGCTAGTGCACATCCAGAGGAAAGTCATATAAATTAAGTGTGATTATTATTAACAATAGTTGGGGTATATTACCTGCCCTGATTCATGGGACCCTAACTTACCATAGCATACAGTGCGGTAACACACTGCTAACAGTGATTAGAGAACAGATGGGAGGCTCCCTACCTTGAGATTTACCTATCCATCTGGCCCTTCTTGAACATCTATTTATAGGAACTAACTGCTCTGCTCTGGATATTTAAGAACTACTTTCCTACTCAAATTTATTGAAGATCAATCAGATAACTGAGTTATTTCTCAGGAGCATTTTGCTAAATGTTCCATCCGTGAACATAAATCTTCAGTCGGAAAGGAGTAGAATAGGAGAAGATACGTACCATGTTTAAAGACTCCAATGAGCAGCGACTTGTCAGCCTCACTGTCCCACCAAGTTGTTGGAACCTCCAGTTGATCCACTACTGGGAACCATATGTCAATCTCACTAAAGGTATAAGAGGGCAGAGTCAGCACAGAAATGCAGGAAATTAAAGTGAGAATCCTTGCAAAGGTTATTATAGGTATCTTCCTGTATCCATTAATTTAAATACTCATGCATCTACCCTATTTCCTCCCACTAGTGTCAAGTATAAGATTAAAGACCTGATATATAGATTTAAATTATCAGGTATCCCAAAGATAGCATAAAATGAAATAAGCAAACCAATCTTCCCTCAAATAAGGTAGGGCATAAATCAAAAAAATATAGCAGAATTTTACCTGGCAATCGCACCCCCTAACACCTTTTCTGCTTGGTCTCCAATAACCTCCTGCCTCAGGTAGTATAGCATTCGTACCCGCAACAGTACCCTAGAAAGGACAGAGGAAGAGCTGGCTCAGTAACACTGTAGAAGTTTGAGGTGGAAAATGTCTGCTAATTCTATGCTTACTTGTTACACTGATGTTTCAAGTGCTTCTTATAACTTTCATCTTGGAACAAAGTGTCAGGGTTATATTTCCGGATCCAATCTGCCTTATGGATATCAAAAGTGCTTTGTGACTTTACTTTTTTTCCTTTGCGTCCACGAGGCACAGGGATAGATAGACCTGGGAAAGGGGAGACATCAAAGACTTGGATTGAGAAAAACCCTTGGACCTGAAAAGGATTAGATTAACCTATAGAAAAACATAAAGTAAAGAGTTGATAATTACCTGAATGATTCTGCAATTCTTTTGTCTTGCCATTTTCAGCTGGGCTAATCAAGTCCCAGATGAAGCCTTTAATATTTTCATCCCCACGGTAGTGTAGAAGACAGTACACGAGAATGGCCCGACAAATGGTCTCCACATCTCGTTCAGTCATACGTCGCTTGAAGCGTCCATGAGATAAAATATCTCGCCATCGTCCCCAACTAAAAAACAGAAAACTATATTAACATTTTTCTGAGAAATGACAGTCCCCTGTCCCTCAGAATCATGTCTCTGAAAAGGTGTGAAACAAAGATCTTAAAAAACATGGTAACAGAATAAACAGAACAAACTCCCTCCAAGGCAAATATTTTTTCACATTATCCCTTCTTTGATCATAGCCCCCAATTTGAAAGGCAAACCAAGAGTATCTATCAGGATGGAGATGCACTATGCACTACCTCTAATGGTAAGTTGGGGTCTTACCCATATACCAGGAGATGCTTTTCCACCCGAAAGCAGTCAGTGCGCCCATAGGCATGATGACGGTCATGTCTGCGGGAGCGTGGCCGCTCATCATCCTCACTTTCCAAATCAGAGAATTCCACCAGGTCATCATCTTTCAGAGTGCTAAAGTGGCGCGTTTGTTTTCGTACTCTAGGTGTGTCAATTACCAAATTATTCTATGAAGAGAACAGAAGGAGAAGTAATTCTCTTCCTGATTTGCTCATGGGAAAAGAATAAGACAATTAGGGATTACAATAACATTGGATGTAACGTGTAGATACTCAGAGATTTTTTTAAATGACATGTAAAATAATCTACAGAAAGCAAAATTATTCAGAAAGCAACTACTTTTCTGGGGCCTCCTAGGTAGAAAGTATCCACAACAGCCCTTGTATACAATACACCATCATAAATCACAATTAGCATCAAATAATCAGAGTAGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCGATACTTCCTCCCTAAAAGAAGAAACTCACCTTGCTGTTGAGCAGATCCATGTCTAGGTCAGCCTTTTTGGCCCACTTTTGCCAAAAGTTGGGGTCATCCAAAGAAATATCTGTCCTGTTTTCAGAAGCAACAAAGCTTGCCTAGAGAAAAACAAATGCAGAGGTAAAGCTGACTTTTTTTTTTAAGTGGTGCAAAATCAGCAATTATGTTTTAAAAACATTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCATTCCTGGCTAATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCATGTTGGGCAGGCTGGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGAATATAGGCATGAGCCACCATCCCCAGCATAAAAACATAATTAAATCCTAGAGATTCCGGTCTCTGTGTTTTTCTAGCCTCTGGCATAGACAGAACATGCCTTAGCAAAGGTGGAACCTTTTCCTTCAGATTCAATGGTGATGGTTGTAGTTCGTCTTAACAAGATCTGGTCAATGTCCTCTTCACAAAACTTGGAGCCTTCATCATCTTCCTCCATGATGGCTGCATATGCTCCTTTTCTTAAAAGATCTTCAATCTCCTTCTTAGAGAACTGTTGGATCTGTAAAAACCAATAGAAAGATGAAAAGACTATCAAGAGAATAATATCTAACCATGCCATAATATTTTAGCTATTATATTTTAAGAAATAATAATTGAGAATCCAAACAAGGTAGTCAAATCCCTGTGTACAAATAGCTTTTGTTTCCCTCTATCACAATGATCTACTACAAACTTATCTATAAACTAAGAGGACTCACTCCAGTAATGTTGCCATCCCGACCACTCATGGATTGAAGCACAGCCTTATCCAACCCCAACTTGAGGCTGGCCTTATCAAACATCTCTCTCTCGTAGGAATTACGAGTGATGAGGCGGTACACCTTCACAGCTTTGCTCTGCCCAATTCGATGACATCGTGCCTGGGCCTGGTTTAAAATAAAAACGAAAGGAAAGGAGAAAGATATCATAAAATTAGCAAGGGAAAGGATACAAAATACCAATTTATGATTCTT
|
GTGCTGGGATTACAGGCATAAGCCACCATGCCCAGCACCTGCAATTTTATTTATCCCATTAAACGTCTCAAAAAAGATGTAGATTAAGTGCCATTACTTTTATTTTATAGAAAAAAAAGTATTCTTTTAAAAAAAAGACATTCTAATTCACAAAGTCACTTGGCTGAAAGTTAACGCTTACTGTTTTTAGTGCCTGGGATTTGGCATTAGGCAAAACTGCTATAAGAGTAAGGAAATATTCTTACCCCCACTGCATTTTTGTTTTGGCTAGTCAGTCTCCCTTCTTATACTCTACTTTTATTTCACTCAAAAACTGCTGCCTCATACCTATATCAGAGAGACTGCTGAACATTTAGACAAATGGGACATGTAGAAAAACAGAAGATTTTCAGCTCTTTCTCTTTAGTGAGGCAGCCAAGCTGACATAGAGATGCAGATCTCTGTAAAGACCCTCACAGGCAAAACCATCACCCTTGAGGTCCAGCCGAGTGACACCAGTGAAAATGTCAAAGCCAAGATCCACGACAAGGAGGGCATCCCACCTGACCAGCAGCATCTGATATTTGTGAACAAACAGTTGGAGGATGGCCGTACTCTTTCAGACTGTAACATCCAGAAAGAGTCCACCCTGCAGGTGGTGCTTTGCCTCTGAGGTGACATTATTGAGCCTTCCCTCTGCCTACTCACCCAGAAATACAACTGCGACAAGATGATCTGCTGCAATTGTTATGCTAGTGCACATCCAGAGGAAAGTCATATAAATTAAGTGTGATTATTATTAACAATAGTTGGGGTATATTACCTGCCCTGATTCATGGGACCCTAACTTACCATAGCATACAGTGCGGTAACACACTGCTAACAGTGATTAGAGAACAGATGGGAGGCTCCCTACCTTGAGATTTACCTATCCATCTGGCCCTTCTTGAACATCTATTTATAGGAACTAACTGCTCTGCTCTGGATATTTAAGAACTACTTTCCTACTCAAATTTATTGAAGATCAATCAGATAACTGAGTTATTTCTCAGGAGCATTTTGCTAAATGTTCCATCCGTGAACATAAATCTTCAGTCGGAAAGGAGTAGAATAGGAGAAGATACGTACCATGTTTAAAGACTCCAATGAGCAGCGACTTGTCAGCCTCACTGTCCCACCAAGTTGTTGGAACCTCCAGTTGATCCACTACTGGGAACCATATGTCAATCTCACTAAAGGTATAAGAGGGCAGAGTCAGCACAGAAATGCAGGAAATTAAAGTGAGAATCCTTGCAAAGGTTATTATAGGTATCTTCCTGTATCCATTAATTTAAATACTCATGCATCTACCCTATTTCCTCCCACTAGTGTCAAGTATAAGATTAAAGACCTGATATATAGATTTAAATTATCAGGTATCCCAAAGATAGCATAAAATGAAATAAGCAAACCAATCTTCCCTCAAATAAGGTAGGGCATAAATCAAAAAAATATAGCAGAATTTTACCTGGCAATCGCACCCCCTAACACCTTTTCTGCTTGGTCTCCAATAACCTCCTGCCTCAGGTAGTATAGCATTCGTACCCGCAACAGTACCCTAGAAAGGACAGAGGAAGAGCTGGCTCAGTAACACTGTAGAAGTTTGAGGTGGAAAATGTCTGCTAATTCTATGCTTACTTGTTACACTGATGTTTCAAGTGCTTCTTATAACTTTCATCTTGGAACAAAGTGTCAGGGTTATATTTCCGGATCCAATCTGCCTTATGGATATCAAAAGTGCTTTGTGACTTTACTTTTTTTCCTTTGCGTCCACGAGGCACAGGGATAGATAGACCTGGGAAAGGGGAGACATCAAAGACTTGGATTGAGAAAAACCCTTGGACCTGAAAAGGATTAGATTAACCTATAGAAAAACATAAAGTAAAGAGTTGATAATTACCTGAATGATTCTGCAATTCTTTTGTCTTGCCATTTTCAGCTGGGCTAATCAAGTCCCAGATGAAGCCTTTAATATTTTCATCCCCACGGTAGTGTAGAAGACAGTACACGAGAATGGCCCGACAAATGGTATCCACATCTCGTTCAGTCATACGTCGCTTGAAGCGTCCATGAGATAAAATATCTCGCCATCGTCCCCAACTAAAAAACAGAAAACTATATTAACATTTTTCTGAGAAATGACAGTCCCCTGTCCCTCAGAATCATGTCTCTGAAAAGGTGTGAAACAAAGATCTTAAAAAACATGGTAACAGAATAAACAGAACAAACTCCCTCCAAGGCAAATATTTTTTCACATTATCCCTTCTTTGATCATAGCCCCCAATTTGAAAGGCAAACCAAGAGTATCTATCAGGATGGAGATGCACTATGCACTACCTCTAATGGTAAGTTGGGGTCTTACCCATATACCAGGAGATGCTTTTCCACCCGAAAGCAGTCAGTGCGCCCATAGGCATGATGACGGTCATGTCTGCGGGAGCGTGGCCGCTCATCATCCTCACTTTCCAAATCAGAGAATTCCACCAGGTCATCATCTTTCAGAGTGCTAAAGTGGCGCGTTTGTTTTCGTACTCTAGGTGTGTCAATTACCAAATTATTCTATGAAGAGAACAGAAGGAGAAGTAATTCTCTTCCTGATTTGCTCATGGGAAAAGAATAAGACAATTAGGGATTACAATAACATTGGATGTAACGTGTAGATACTCAGAGATTTTTTTAAATGACATGTAAAATAATCTACAGAAAGCAAAATTATTCAGAAAGCAACTACTTTTCTGGGGCCTCCTAGGTAGAAAGTATCCACAACAGCCCTTGTATACAATACACCATCATAAATCACAATTAGCATCAAATAATCAGAGTAGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCGATACTTCCTCCCTAAAAGAAGAAACTCACCTTGCTGTTGAGCAGATCCATGTCTAGGTCAGCCTTTTTGGCCCACTTTTGCCAAAAGTTGGGGTCATCCAAAGAAATATCTGTCCTGTTTTCAGAAGCAACAAAGCTTGCCTAGAGAAAAACAAATGCAGAGGTAAAGCTGACTTTTTTTTTTAAGTGGTGCAAAATCAGCAATTATGTTTTAAAAACATTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCATTCCTGGCTAATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCATGTTGGGCAGGCTGGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGAATATAGGCATGAGCCACCATCCCCAGCATAAAAACATAATTAAATCCTAGAGATTCCGGTCTCTGTGTTTTTCTAGCCTCTGGCATAGACAGAACATGCCTTAGCAAAGGTGGAACCTTTTCCTTCAGATTCAATGGTGATGGTTGTAGTTCGTCTTAACAAGATCTGGTCAATGTCCTCTTCACAAAACTTGGAGCCTTCATCATCTTCCTCCATGATGGCTGCATATGCTCCTTTTCTTAAAAGATCTTCAATCTCCTTCTTAGAGAACTGTTGGATCTGTAAAAACCAATAGAAAGATGAAAAGACTATCAAGAGAATAATATCTAACCATGCCATAATATTTTAGCTATTATATTTTAAGAAATAATAATTGAGAATCCAAACAAGGTAGTCAAATCCCTGTGTACAAATAGCTTTTGTTTCCCTCTATCACAATGATCTACTACAAACTTATCTATAAACTAAGAGGACTCACTCCAGTAATGTTGCCATCCCGACCACTCATGGATTGAAGCACAGCCTTATCCAACCCCAACTTGAGGCTGGCCTTATCAAACATCTCTCTCTCGTAGGAATTACGAGTGATGAGGCGGTACACCTTCACAGCTTTGCTCTGCCCAATTCGATGACATCGTGCCTGGGCCTGGTTTAAAATAAAAACGAAAGGAAAGGAGAAAGATATCATAAAATTAGCAAGGGAAAGGATACAAAATACCAATTTATGATTCTT
|
Task1_train_19470
|
The gene CHD8 (chromodomain helicase DNA binding protein 8) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Intellectual developmental disorder with autism and macrocephaly
|
CATGTCTAGGTCAGCCTTTTTGGCCCACTTTTGCCAAAAGTTGGGGTCATCCAAAGAAATATCTGTCCTGTTTTCAGAAGCAACAAAGCTTGCCTAGAGAAAAACAAATGCAGAGGTAAAGCTGACTTTTTTTTTTAAGTGGTGCAAAATCAGCAATTATGTTTTAAAAACATTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCATTCCTGGCTAATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCATGTTGGGCAGGCTGGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGAATATAGGCATGAGCCACCATCCCCAGCATAAAAACATAATTAAATCCTAGAGATTCCGGTCTCTGTGTTTTTCTAGCCTCTGGCATAGACAGAACATGCCTTAGCAAAGGTGGAACCTTTTCCTTCAGATTCAATGGTGATGGTTGTAGTTCGTCTTAACAAGATCTGGTCAATGTCCTCTTCACAAAACTTGGAGCCTTCATCATCTTCCTCCATGATGGCTGCATATGCTCCTTTTCTTAAAAGATCTTCAATCTCCTTCTTAGAGAACTGTTGGATCTGTAAAAACCAATAGAAAGATGAAAAGACTATCAAGAGAATAATATCTAACCATGCCATAATATTTTAGCTATTATATTTTAAGAAATAATAATTGAGAATCCAAACAAGGTAGTCAAATCCCTGTGTACAAATAGCTTTTGTTTCCCTCTATCACAATGATCTACTACAAACTTATCTATAAACTAAGAGGACTCACTCCAGTAATGTTGCCATCCCGACCACTCATGGATTGAAGCACAGCCTTATCCAACCCCAACTTGAGGCTGGCCTTATCAAACATCTCTCTCTCGTAGGAATTACGAGTGATGAGGCGGTACACCTTCACAGCTTTGCTCTGCCCAATTCGATGACATCGTGCCTGGGCCTGGTTTAAAATAAAAACGAAAGGAAAGGAGAAAGATATCATAAAATTAGCAAGGGAAAGGATACAAAATACCAATTTATGATTCTTTCACCTCTATAGAGCAGCCATGAGATCAACTCAAAACCAAGAGTCAATTTCAAGATGAAATTATCACCCCATCATGTAGACCAGGGGTCAGCAAACTAAAGTCTGTGTGGACATCTGTTTTTAAAAATAAAGTTCAATGGGGACACAGGTGGGACCACCCACTCATTTACATATTATCTATGGCTGTTTTTGCGCTACAGGACTTGGAGATAAGCAGTTGCAACAAAGACTCGATGGCTCACAAAGCCTAAAACATTTACTGTCTTGTCGTTTACAGAAAACGTTTGCTGATTCCCTGACCTAACTGCCACCCTTAACTAAGGAAACAATTCCAAACTCTGTGAAAGGTCTTTCTAAAAGATCCTATTCTTGTTGAAAAATCTCCCAAGTTAGGTAGTTAGTCCCTAAGACAATGAATTCCTTTACCTGCAGGTCATTTTGTGGATTCCAGTCTGAATCAAAGATGATGCAGGTATCAGCAGCTGTAAGATTAATACCAAGTCCACCAGCCCGGGTACACAGTAAGAAGACAAAGCGGTCTGAGTCAGGCTTGCTGAAGCGGTCAATGGCAGCCTGTCGAAGGTTGCCTCTAACTCGCCCATCAATACGTTCATATAAGTACCTGTATGGGAATCGCAGAAAAAAAATGTAAGTGGCTAAGCAGAAGTGGAGACCAAAACAGCAGGCTAGGATCAATACCAGTACTCCCATATCAAAGCTGGTCAAAAACCCAAGTTGAGAGTGAGAATCTTAAAAACTTCTCTTATTGCAATTGGTGAACTCTAATTAAATCCAGGCCCTCCTACTTTTTGCTGCTTTATGAGGACAGAGTAACCACAGGCTAGGATGACTCTTTTCTTACCTCCTCTGGATTAAATAATCCTCTAGGATGTCTAGGCAGCGCACCATCTGAGAGAAGATCAGAACTTTATGGCCACCAGCTTTAAGCTTTGGAAGCAACTTGTCAATAAGAACCAGTTTGCCGGCTGAACGAACCATGGCCTGCAGGTGAAAGTCATGAGGTATAATATGGCAAGCTTCACGGAATTCTGTTAGGATTTTTTCTTCAGCACCTGCCAAAAGAAAAATCAAATTATGTTGAGATCCAGTGAACCATATTAAGGTTGTAGTCTATTTAACTAAGAAAGCAAAAGGAAAAAAATGTAATTTGACTTAAGACCAACATTTCTCACACACAGAATTTCAGCACAAAAAAGTCTTAAATCGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAATACAAAAATTAGCCAGGTGTGGTGGCGGAGGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATTCGGGAGGTGGTGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCACCTTAAAAAAAAAAAAAAATCAGCCGGGTTCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAAGCGGGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGCCCCATGTGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTAGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGTTGCAGTGAGCCGAGATTGCACCACTGTACTCCAGCCTGGGCGACAATAGTGAAACTCCATCTTAAAAAAAAAAAAAAAAAAAAAACTTAAATCATCCTCAGATGTGTCATACAAAATACACTAAGTAAGGCAGGCCTATGATAACTGGGTTAAAAAAAGATGTAAATATGTGGACAAGGACTAAGATGGAACACACTATCAGCACCCAAAAGAGACAGAAACAGCAAAATGGAGTGTCGATGAGGACATTTATCCAAGGAACAGAGTAACCTAAGAGTGTTTTTTCTGAGACAGGGCTAGCTTCAAACTCATGGGCTCAACCGATCTTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTACATGCCACTGTGTGGCTAATCTGAGTTCTTCTTCATGCAATTCTAAACAGCAAATCCTATTTAATCTTGGAGATTATGTAGGATCAAAGGGGTAGAAAGAACTACAGAAAAACATTCCAAATAAGAATTGTTTTTATTTACTTTATTTGGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATCCTCCAAGCTCAGTCTCCAAAGTAGCTAGAACCACAGATGCCTGCCATCACACCTGGCTAATTTTTGTATTTTTTGTAGAGGTGGGATTTCATCATGTTGCCCAGGCTTAGAGTCTCTTTTTTAAAAGGAGAACCATTTCCCTCCCATTCCTCAGTCCGCACCCCAAATTAGGTTGGTTGAGTCAATGCATCCATTGTCCCCAAGGAGAATCATCCGGAAAGTAAACACAGGTACTACAGAAGTTCAGGTATATACCAAGCATTCCCTCACCATTGATGAGATATGGGTGGTTGCAGCACTTGCGCAACTCCATCATTGTGTTAAGTAGATTAGGCATGTTGGTATGACCTGCCCCTTTGGAAAGGAAGGAGAAATTCTTCTCCAAAATAGCCCGATAGTATTTCTTCTGGATATTAGTCAGCTCTACTTCAATAATTGTTTCCTGTTTGGGTGCCAAGTTTTTTTCAACATCCTCTTTGAGTCTTCTCAGCATCATTGGCTTAAGAATGGCCTGTAGCTTTTGAACCTGTGGTCCATTACAGAGAGAAAAATAAATCAATAAGATGAGGGCGAACATT
|
CATGTCTAGGTCAGCCTTTTTGGCCCACTTTTGCCAAAAGTTGGGGTCATCCAAAGAAATATCTGTCCTGTTTTCAGAAGCAACAAAGCTTGCCTAGAGAAAAACAAATGCAGAGGTAAAGCTGACTTTTTTTTTTAAGTGGTGCAAAATCAGCAATTATGTTTTAAAAACATTTTTTTTTTGAGACACAGTCTTGCTCTGTTGCCCAGGCTGGGGTACAGTGGCACGATCTCCGCTCACCGCAACCTCCACCCCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGCGCAAGCCACCATTCCTGGCTAATTTTTGTATTTTTGGTAGAGATGAGGTTTCACCATGTTGGGCAGGCTGGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGAATATAGGCATGAGCCACCATCCCCAGCATAAAAACATAATTAAATCCTAGAGATTCCGGTCTCTGTGTTTTTCTAGCCTCTGGCATAGACAGAACATGCCTTAGCAAAGGTGGAACCTTTTCCTTCAGATTCAATGGTGATGGTTGTAGTTCGTCTTAACAAGATCTGGTCAATGTCCTCTTCACAAAACTTGGAGCCTTCATCATCTTCCTCCATGATGGCTGCATATGCTCCTTTTCTTAAAAGATCTTCAATCTCCTTCTTAGAGAACTGTTGGATCTGTAAAAACCAATAGAAAGATGAAAAGACTATCAAGAGAATAATATCTAACCATGCCATAATATTTTAGCTATTATATTTTAAGAAATAATAATTGAGAATCCAAACAAGGTAGTCAAATCCCTGTGTACAAATAGCTTTTGTTTCCCTCTATCACAATGATCTACTACAAACTTATCTATAAACTAAGAGGACTCACTCCAGTAATGTTGCCATCCCGACCACTCATGGATTGAAGCACAGCCTTATCCAACCCCAACTTGAGGCTGGCCTTATCAAACATCTCTCTCTCGTAGGAATTACGAGTGATGAGGCGGTACACCTTCACAGCTTTGCTCTGCCCAATTCGATGACATCGTGCCTGGGCCTGGTTTAAAATAAAAACGAAAGGAAAGGAGAAAGATATCATAAAATTAGCAAGGGAAAGGATACAAAATACCAATTTATGATTCTTTCACCTCTATAGAGCAGCCATGAGATCAACTCAAAACCAAGAGTCAATTTCAAGATGAAATTATCACCCCATCATGTAGACCAGGGGTCAGCAAACTAAAGTCTGTGTGGACATCTGTTTTTAAAAATAAAGTTCAATGGGGACACAGGTGGGACCACCCACTCATTTACATATTATCTATGGCTGTTTTTGCGCTACAGGACTTGGAGATAAGCAGTTGCAACAAAGACTCGATGGCTCACAAAGCCTAAAACATTTACTGTCTTGTCGTTTACAGAAAACGTTTGCTGATTCCCTGACCTAACTGCCACCCTTAACTAAGGAAACAATTCCAAACTCTGTGAAAGGTCTTTCTAAAAGATCCTATTCTTGTTGAAAAATCTCCCAAGTTAGGTAGTTAGTCCCTAAGACAATGAATTCCTTTACCTGCAGGTCATTTTGTGGATTCCAGTCTGAATCAAAGATGATGCAGGTATCAGCAGCTGTAAGATTAATACCAAGTCCACCAGCCCGGGTACACAGTAAGAAGACAAAGCGGTCTGAGTCAGGCTTGCTGAAGCGGTCAATGGCAGCCTGTCGAAGGTTGCCTCTAACTCGCCCATCAATACGTTCATATAAGTACCTGTATGGGAATCGCAGAAAAAAAATGTAAGTGGCTAAGCAGAAGTGGAGACCAAAACAGCAGGCTAGGATCAATACCAGTACTCCCATATCAAAGCTGGTCAAAAACCCAAGTTGAGAGTGAGAATCTTAAAAACTTCTCTTATTGCAATTGGTGAACTCTAATTAAATCCAGGCCCTCCTACTTTTTGCTGCTTTATGAGGACAGAGTAACCACAGGCTAGGATGACTCTTTTCTTACCTCCTCTGGATTAAATTATCCTCTAGGATGTCTAGGCAGCGCACCATCTGAGAGAAGATCAGAACTTTATGGCCACCAGCTTTAAGCTTTGGAAGCAACTTGTCAATAAGAACCAGTTTGCCGGCTGAACGAACCATGGCCTGCAGGTGAAAGTCATGAGGTATAATATGGCAAGCTTCACGGAATTCTGTTAGGATTTTTTCTTCAGCACCTGCCAAAAGAAAAATCAAATTATGTTGAGATCCAGTGAACCATATTAAGGTTGTAGTCTATTTAACTAAGAAAGCAAAAGGAAAAAAATGTAATTTGACTTAAGACCAACATTTCTCACACACAGAATTTCAGCACAAAAAAGTCTTAAATCGGCTGGGTACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAACAATACAAAAATTAGCCAGGTGTGGTGGCGGAGGCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAATTCGGGAGGTGGTGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCACCTTAAAAAAAAAAAAAAATCAGCCGGGTTCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAAGCGGGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTGCCCCATGTGGCGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTAGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGTTGCAGTGAGCCGAGATTGCACCACTGTACTCCAGCCTGGGCGACAATAGTGAAACTCCATCTTAAAAAAAAAAAAAAAAAAAAAACTTAAATCATCCTCAGATGTGTCATACAAAATACACTAAGTAAGGCAGGCCTATGATAACTGGGTTAAAAAAAGATGTAAATATGTGGACAAGGACTAAGATGGAACACACTATCAGCACCCAAAAGAGACAGAAACAGCAAAATGGAGTGTCGATGAGGACATTTATCCAAGGAACAGAGTAACCTAAGAGTGTTTTTTCTGAGACAGGGCTAGCTTCAAACTCATGGGCTCAACCGATCTTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTACATGCCACTGTGTGGCTAATCTGAGTTCTTCTTCATGCAATTCTAAACAGCAAATCCTATTTAATCTTGGAGATTATGTAGGATCAAAGGGGTAGAAAGAACTACAGAAAAACATTCCAAATAAGAATTGTTTTTATTTACTTTATTTGGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCAATCCTCCAAGCTCAGTCTCCAAAGTAGCTAGAACCACAGATGCCTGCCATCACACCTGGCTAATTTTTGTATTTTTTGTAGAGGTGGGATTTCATCATGTTGCCCAGGCTTAGAGTCTCTTTTTTAAAAGGAGAACCATTTCCCTCCCATTCCTCAGTCCGCACCCCAAATTAGGTTGGTTGAGTCAATGCATCCATTGTCCCCAAGGAGAATCATCCGGAAAGTAAACACAGGTACTACAGAAGTTCAGGTATATACCAAGCATTCCCTCACCATTGATGAGATATGGGTGGTTGCAGCACTTGCGCAACTCCATCATTGTGTTAAGTAGATTAGGCATGTTGGTATGACCTGCCCCTTTGGAAAGGAAGGAGAAATTCTTCTCCAAAATAGCCCGATAGTATTTCTTCTGGATATTAGTCAGCTCTACTTCAATAATTGTTTCCTGTTTGGGTGCCAAGTTTTTTTCAACATCCTCTTTGAGTCTTCTCAGCATCATTGGCTTAAGAATGGCCTGTAGCTTTTGAACCTGTGGTCCATTACAGAGAGAAAAATAAATCAATAAGATGAGGGCGAACATT
|
Task1_train_19471
|
The variant affects gene OXA1L (OXA1L mitochondrial inner membrane insertase), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Mitochondrial disease
|
AGGGAAGTCATGGATTCTTACTCAAAGTAACTTCTCTTCCTAACTATTGATAAAAATGAGATGTCCTTTTTAAGCTTGAAATCTGCAGACACTAGGCTAACCTGGAAGAACAAGAAGTAGAGAGAACAGAACCCAGTACTGGTTATTATAAAAAGATCTCACTTGCTTTGTGTTCGCTACTGAATAAATATAATACAAGGCTTTCTTTCACACAGGTTCAGGCCCCTCCTGTTGTTGCTGCAACTCCCTCACCCACAGCAGTACCTGAGGTGGCTTCTGGAGAGACTGCAGATGTAGTCCAAACTGCTGCAGAGCAGAGCTTCGCTGAACTGGGGCTGGGGTCATACACCCCAGTGGGACTGATCCAGAATTTACTGGAATTTATGCATGTTGATCTGGGCCTACCTTGGTGGGGGGCCATTGCTGCATGTAAGGGGAATATACCCTGGACATGGGTTAGGGATTTAACCTCATAGATGGCAATTCTTTGAATGGATTCAGGAAGTAGTTGCAGAAGCTCTGGGGTCAGAAGAGCAGATGATTTCAAATGAGCAATAGAGGTTCATGATACCTAGATGCACTCTGCCTATATTTCTTAAAGAGCATTATAAAACCACCAGATCATCTGGGATTCAAGAAGTGTAGATATTTGAATACAAACATGGGGTTAGAGTCAGGGGACCTTATTAACAGTCATGAAGCTATCCTGGTTTAGAACAGAGGTTCAGGTCAGGCACTTAAACCCCTAAATTGGGAAGCCACTAGCATTGCTTTTGTAAAGGCTAGAACTCTGCTTTGAATTATGTGTCTTTCTGCCACGTTGCTCCATCAATTATCTTTTCTCCCCTGTGTCTTCAGCATTTCCCTCCTCACTGCCCTACCCCGAACATGTAAACATGCTCAGGCACACCCATGTGTTACCTGGGGGAAGGTTTCTTCCCTTCATCCTTAGTTCCCCTTCACTTACTATCCTATCTTCTTCCTTTGATGGCTGTTATTTATTTTGTTGTTGTTAATTTTTGTGGATACCTAGTAGGTGTATATATTTATGGGCTACATGAGATGTTTTGATAGAGGCATGCAAGGTGTAATAATCACATTATGGAGAATGAGATATCCATCCCCTTAAGCATTTATCCTTTAAGTTACAAACAATCCAATTACACTTTTATTTTATTTTTTATTTTATTTATTTTTTTAAACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCTAGCGATTCTCATGTCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGCCACCACACCTGGCTAATTTTTACGTTCTTTATTTAAAAATATGCTATTATTACTGACTATAGTCACCCTGTTGTGCAATCAATAGTAGATCTTATTCTAACTTTTTTTTACCCATTAACTATTCCCAACCCTGACTACCCTTCCCAGCCTCTGGTACCTTCCTTCTACTCTCTGCCCATGATTTCATTTGTTTTGATTTTTAGATCTCACAAATAAGTGAGAACATGGCGATGTTCGTCTTTCTGTGCTTGCCTTATTTCACTTAACATAGTGATCTCCAGTTCCATCCACGTTGTCACAGATGACTGGGTTTCATTCTTTTGATAGCTGTTACTTAAAAGACTGCTCTGCATCCAATTAGCCTACTTCTTTCCATTTACTCCCTCAGCCGTCTGGCTTTTACTCATATCACCTCATTCGAACTGCCAGTAACATAATTGCTAAATCCACTCCTGTCAGCTTTTTGTTTGAGGAAACAAACAGGATTCCTAATCATCTGCTTAGAGAAGTTAATGCCATACTTTTGTGATGCCAAATTAGAGAACTGAGCCTTAAAGCAACTAATTCATTCCCCTGACCTTATTTCTGGGCCTCTTAGGCATGAGTCATAGAATGGACAAGGCAAGAATAAGACCCTTTCAGTAAGGACCTAAAAGCCTTCAACCTTCTAGCTGCAGAACTGCTTTAATTTCACTCCAATCCTAGTTTGTATTTTCCAGGTACAGTCTTTGCCCGCTGCCTGATTTTTCCTCTCATCGTGACGGGCCAGCGAGAGGCAGCCAGGATCCACAATCACTTGCCAGAGATCCAGAAGTTTTCCAGTCGAATCAGAGAGGCCAAGTTAGCAGGAGACCATATTGAGTGTGAGTCAGTTGCAGAATGAGCGTGGGAGAAGTCCACATTTGCACTTTTCCTTACATTCTGCTGGGGGAAAGGAACAATGTAAATCAGAAGTTGCCACAGTCGGGAAAGTTCTAAAGGTTTATCTGTTTCTTAGACCTAATGCTCCCAAGGAGTGGCCAGGGTTGGTTAGAAATTTCACAGGCCAGGTAGATAATGAGGATGTTCACCTCCACTGATGTAACTGTTACCCCAACCATTAATTTCCCCTCACCTCACAGATTACAAGGCTTCCTCGGAGATGGCACTTTACCAGAAAAAACATGGTATTAAACTCTATAAACCTCTCATTCTCCCTGTGACTCAGGTGAGCAAAAACATTTCCTTCCTTATTTCATCCAGTACCCATGAAATTTCCTCTCTGTGTTTCATGTGTCCCAGGTCCCCCAAAAAACAGGTGGTGGTGGATTATACATGGCTTTCAGTAGTGGGGTGATGAAAATGTTCTCTCTGGTAAAGCATGCTGACACTGTTTATCTTGTGTAATAGGCCCCAATCTTCATCTCCTTCTTCATTGCTTTGAGAGAGATGGCCAACCTTCCTGTGCCCAGCCTGCAGACAGGTGGCCTCTGGTGGTTCCAGGATCTCACGGTATCCGATCCCATCTACATATTACCACTGGCAGTCACTGCTACAATGTGGGCTGTTCTTGAGGTAAGCCCAGATTGGCCAAGTGCCAGGCCTGCAAAGTGAACTGGGGTTGGAGGGTAAAGTAGTTGTACAGAATGGTCATCCTTCACTTGCTGGAGAAAGAGTTGATGGGTAAGAGATTAGAGACAGATTCACTGAAACTGACAGCTTTCCCGACTTTTCCACCCCACTTCTTTTGGCAGCTAGGTGCTGAGACAGGTGTGCAAAGTTCTGACCTTCAGTGGATGAGAAATGTCATCAGAATGATGCCCCTGATAACCTTGCCCATAACCATGCATTTCCCCACGGTATGTAATGCCTTATGGGCTGGCTCCAAGGCCTTCTGCCTAGCCTAGCCACCTAGCAAGCTGACCAGGGATACAGCTTCTGAGTCCCTTCTCTGTGTTCTCACCCAGGCAGTGTTTATGTACTGGCTCTCCTCCAATTTGTTTTCCCTGGTCCAAGTATCCTGTCTCCGGATTCCAGCAGTACGCACTGTACTTAAAATCCCCCAGCGTGTTGTACATGACCTGGACAAATTACCTCCACGGGAAGGCTTCCTAGAGAGCTTCAAAAAAGGTAAGGGCTCATCCTCTGTGAAAAAGGACTAGGGAAAGGGGTCTAAAAATAGGAATGCAACTGACTCTCTTGCTTCTCTTTACACAGGCTGGAAAAATGCTGAAATGACGCGTCAGCTGCGAGAGCGTGAACAACGCATGCGGAATCAGTTGGAGCTAGCAGCCAGGGGTAAATAGTCCTTTCAGGCCAAATTCTGTCTTTTGTTTCTTCCTTTCTGTTCTTCGTTGAAATTTGTTTTCTCTTCTCCCCTCAGGTCCTTTACGACAGACCTTTACCCACAACCCTCTCCTACAACCTGGAAAGGATAACCCTCCCAATATCCCTAGCAGCAGCAGCAAACCAAAGTCAAAGTATCCCTGGCACGACACACTTGGCTGACTTATGTTCTGTGCGCATTCTGGCAGGAATTCTGTCTCTTCAGAGACTCATCCTCAAAACAAGACTTGACACTGTGTCCTTGCCCCAGTCCTAGGAACTGTGGCACACAGAGATGTTCATTTTAAAAACGGATTTCATGAAACACTCTTGTACTTATGTTTATAAGAGAGCACTGGGTAGCCAAGTGATCTTCCCATTCACAGAGTTAGTAAACCTCTGTACTACATGCTGCTTCCTGATACTTATTGAACAGGGAAATCAGTGTGCACTTCAGAAAACT
|
AGGGAAGTCATGGATTCTTACTCAAAGTAACTTCTCTTCCTAACTATTGATAAAAATGAGATGTCCTTTTTAAGCTTGAAATCTGCAGACACTAGGCTAACCTGGAAGAACAAGAAGTAGAGAGAACAGAACCCAGTACTGGTTATTATAAAAAGATCTCACTTGCTTTGTGTTCGCTACTGAATAAATATAATACAAGGCTTTCTTTCACACAGGTTCAGGCCCCTCCTGTTGTTGCTGCAACTCCCTCACCCACAGCAGTACCTGAGGTGGCTTCTGGAGAGACTGCAGATGTAGTCCAAACTGCTGCAGAGCAGAGCTTCGCTGAACTGGGGCTGGGGTCATACACCCCAGTGGGACTGATCCAGAATTTACTGGAATTTATGCATGTTGATCTGGGCCTACCTTGGTGGGGGGCCATTGCTGCATGTAAGGGGAATATACCCTGGACATGGGTTAGGGATTTAACCTCATAGATGGCAATTCTTTGAATGGATTCAGGAAGTAGTTGCAGAAGCTCTGGGGTCAGAAGAGCAGATGATTTCAAATGAGCAATAGAGGTTCATGATACCTAGATGCACTCTGCCTATATTTCTTAAAGAGCATTATAAAACCACCAGATCATCTGGGATTCAAGAAGTGTAGATATTTGAATACAAACATGGGGTTAGAGTCAGGGGACCTTATTAACAGTCATGAAGCTATCCTGGTTTAGAACAGAGGTTCAGGTCAGGCACTTAAACCCCTAAATTGGGAAGCCACTAGCATTGCTTTTGTAAAGGCTAGAACTCTGCTTTGAATTATGTGTCTTTCTGCCACGTTGCTCCATCAATTATCTTTTCTCCCCTGTGTCTTCAGCATTTCCCTCCTCACTGCCCTACCCCGAACATGTAAACATGCTCAGGCACACCCATGTGTTACCTGGGGGAAGGTTTCTTCCCTTCATCCTTAGTTCCCCTTCACTTACTATCCTATCTTCTTCCTTTGATGGCTGTTATTTATTTTGTTGTTGTTAATTTTTGTGGATACCTAGTAGGTGTATATATTTATGGGCTACATGAGATGTTTTGATAGAGGCATGCAAGGTGTAATAATCACATTATGGAGAATGAGATATCCATCCCCTTAAGCATTTATCCTTTAAGTTACAAACAATCCAATTACACTTTTATTTTATTTTTTATTTTATTTATTTTTTTAAACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCTAGCGATTCTCATGTCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGCCACCACACCTGGCTAATTTTTACGTTCTTTATTTAAAAATATGCTATTATTACTGACTATAGTCACCCTGTTGTGCAATCAATAGTAGATCTTATTCTAACTTTTTTTTACCCATTAACTATTCCCAACCCTGACTACCCTTCCCAGCCTCTGGTACCTTCCTTCTACTCTCTGCCCATGATTTCATTTGTTTTGATTTTTAGATCTCACAAATAAGTGAGAACATGGCGATGTTCGTCTTTCTGTGCTTGCCTTATTTCACTTAACATAGTGATCTCCAGTTCCATCCACGTTGTCACAGATGACTGGGTTTCATTCTTTTGATAGCTGTTACTTAAAAGACTGCTCTGCATCCAATTAGCCTACTTCTTTCCATTTACTCCCTCAGCCGTCTGGCTTTTACTCATATCACCTCATTCGAACTGCCAGTAACATAATTGCTAAATCCACTCCTGTCAGCTTTTTGTTTGAGGAAACAAACAGGATTCCTAATCATCTGCTTAGAGAAGTTAATGCCATACTTTTGTGATGCCAAATTAGAGAACTGAGCCTTAAAGCAACTAATTCATTCCCCTGACCTTATTTCTGGGCCTCTTAGGCATGAGTCATAGAATGGACAAGGCAAGAATAAGACCCTTTCAGTAAGGACCTAAAAGCCTTCAACCTTCTAGCTGCAGAACTGCTTTAATTTCACTCCAATCCTAGTTTGTATTTTCCAGTTACAGTCTTTGCCCGCTGCCTGATTTTTCCTCTCATCGTGACGGGCCAGCGAGAGGCAGCCAGGATCCACAATCACTTGCCAGAGATCCAGAAGTTTTCCAGTCGAATCAGAGAGGCCAAGTTAGCAGGAGACCATATTGAGTGTGAGTCAGTTGCAGAATGAGCGTGGGAGAAGTCCACATTTGCACTTTTCCTTACATTCTGCTGGGGGAAAGGAACAATGTAAATCAGAAGTTGCCACAGTCGGGAAAGTTCTAAAGGTTTATCTGTTTCTTAGACCTAATGCTCCCAAGGAGTGGCCAGGGTTGGTTAGAAATTTCACAGGCCAGGTAGATAATGAGGATGTTCACCTCCACTGATGTAACTGTTACCCCAACCATTAATTTCCCCTCACCTCACAGATTACAAGGCTTCCTCGGAGATGGCACTTTACCAGAAAAAACATGGTATTAAACTCTATAAACCTCTCATTCTCCCTGTGACTCAGGTGAGCAAAAACATTTCCTTCCTTATTTCATCCAGTACCCATGAAATTTCCTCTCTGTGTTTCATGTGTCCCAGGTCCCCCAAAAAACAGGTGGTGGTGGATTATACATGGCTTTCAGTAGTGGGGTGATGAAAATGTTCTCTCTGGTAAAGCATGCTGACACTGTTTATCTTGTGTAATAGGCCCCAATCTTCATCTCCTTCTTCATTGCTTTGAGAGAGATGGCCAACCTTCCTGTGCCCAGCCTGCAGACAGGTGGCCTCTGGTGGTTCCAGGATCTCACGGTATCCGATCCCATCTACATATTACCACTGGCAGTCACTGCTACAATGTGGGCTGTTCTTGAGGTAAGCCCAGATTGGCCAAGTGCCAGGCCTGCAAAGTGAACTGGGGTTGGAGGGTAAAGTAGTTGTACAGAATGGTCATCCTTCACTTGCTGGAGAAAGAGTTGATGGGTAAGAGATTAGAGACAGATTCACTGAAACTGACAGCTTTCCCGACTTTTCCACCCCACTTCTTTTGGCAGCTAGGTGCTGAGACAGGTGTGCAAAGTTCTGACCTTCAGTGGATGAGAAATGTCATCAGAATGATGCCCCTGATAACCTTGCCCATAACCATGCATTTCCCCACGGTATGTAATGCCTTATGGGCTGGCTCCAAGGCCTTCTGCCTAGCCTAGCCACCTAGCAAGCTGACCAGGGATACAGCTTCTGAGTCCCTTCTCTGTGTTCTCACCCAGGCAGTGTTTATGTACTGGCTCTCCTCCAATTTGTTTTCCCTGGTCCAAGTATCCTGTCTCCGGATTCCAGCAGTACGCACTGTACTTAAAATCCCCCAGCGTGTTGTACATGACCTGGACAAATTACCTCCACGGGAAGGCTTCCTAGAGAGCTTCAAAAAAGGTAAGGGCTCATCCTCTGTGAAAAAGGACTAGGGAAAGGGGTCTAAAAATAGGAATGCAACTGACTCTCTTGCTTCTCTTTACACAGGCTGGAAAAATGCTGAAATGACGCGTCAGCTGCGAGAGCGTGAACAACGCATGCGGAATCAGTTGGAGCTAGCAGCCAGGGGTAAATAGTCCTTTCAGGCCAAATTCTGTCTTTTGTTTCTTCCTTTCTGTTCTTCGTTGAAATTTGTTTTCTCTTCTCCCCTCAGGTCCTTTACGACAGACCTTTACCCACAACCCTCTCCTACAACCTGGAAAGGATAACCCTCCCAATATCCCTAGCAGCAGCAGCAAACCAAAGTCAAAGTATCCCTGGCACGACACACTTGGCTGACTTATGTTCTGTGCGCATTCTGGCAGGAATTCTGTCTCTTCAGAGACTCATCCTCAAAACAAGACTTGACACTGTGTCCTTGCCCCAGTCCTAGGAACTGTGGCACACAGAGATGTTCATTTTAAAAACGGATTTCATGAAACACTCTTGTACTTATGTTTATAAGAGAGCACTGGGTAGCCAAGTGATCTTCCCATTCACAGAGTTAGTAAACCTCTGTACTACATGCTGCTTCCTGATACTTATTGAACAGGGAAATCAGTGTGCACTTCAGAAAACT
|
Task1_train_19472
|
Located on Chromosome 14, this mutation impacts SLC7A7 (solute carrier family 7 member 7). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Lysinuric protein intolerance
|
TGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGGAGTGATTCCACTAAGCCGAAGGGTTCATAAGAAGGGGCTAAGGCAAAGATGTCTTTGGAGGCTGGATTTACAGAAAAAGGCAAAAACCAAGCTCTGCAATAGCTGAGCGGACTTAAGGATGCACGGCTTACCCACGATCCTTCGGAGGTAAAGCGGTCGCTTATGTTCTGGCACTCTGATGATGAGGAAGTAAAAGGGCAGGCCTGAGAGGGCAATGGCAATGCCGATGAGGGAGTTGATAGTATCACTGTAAAGTGGAACAGCCACCAGGAAGATGGTGCAGAGGCAGAAGACAATCGGGAAGAAAACGCTGAGCTAAGGGCACAGGAAACATAACTGGAGTGGACAACTCAGGATTCTTAACAGCTAAAATAACCCCACCTCCCATAAGGATTAGCGCACTGAGCCTTCTTTCCATACCTTTAATTTCAACACATTACTAACGACCAAGTCCCAGGCAAAGGTTTCTAAATAAAGTGCTTTGTCATAGTCCCTTGTAGCAACAACTCCAGCTGTTTCAGGTGGAGCAGAGGTAGGATGGAGTTGCCTTACCTTGAGGGGACGAGGTCGATCAGGCTCCTTCCAGCGCAGATAAAGCTGACCCACAATAGAAAGCCCCACAAAGAACCAGTAGCTGAAGCTGTAGTAGTTAATGAGCTGGAAGATGTCTTCCACGCACAAGTAGATCAATGCCATGATACCCTGTAAGCGTGAGCCTAAGTCAGCTCTTCTCAGGGCCTTTGTTAATCCAAAGGCTTTTCACTCCCTTTATACCCCAGAAATCCATCCCCTGTCAATCCTCAAAGTCTCCTGGTCCTCTTCTGGTTTTAATCCCTTTAACACCCTAGTTTCAGTACCTTATCCCCTCTCTTATAAGTCAGTAGTCTCAACTGGCTTTTCAACCCATTCTTCAAGTTAACCCTGTATAAAGCAAGCTCGAAACAATCCCTCAAAAGTCTTGCATAGGACCCTTTCCATAATGGCTCCAACCTACAATAACCCGCTCTTATCTCCTCCTACATGTTGAGTATCCCTGTTCTGAAAATCCAAAATGCTCCAATGAGCATTTCCTTTGAGTGTCAAGTCAGCACTCAAAAAGTTTCAGATTTTTAGAGCATTTCAGATTTTGGATATTCAGATTAGGGATACTCAACCTGTATTAAAACCCATACTGCTTTATCACAGGATTTTCTGATGCTATTTCTCCTACCTAAAGCCCATCTCTACCATTTGCAACCCTAGCCATCAAGATGCACTTTTTTTTTCTGAGAACACTTTGGTGGATTTTAAGACACACACACACACTTCTAGATGTAATTCTTCACCCTCTACTCCCATGGAAGTGATCGTTTCTTCTCTTAAACACCGTATCACTCACTATCTGTCATGGCAATCAATCATTACAGTGTATTCCATGTACTTTTTGCCTTATCTTAGAGCAGAGGTGTACCATTCCTTAGAGCATTTGGATTTCCCCTGTAGCGGTTAGCATAGTGCCTTGCCCGTGGTGAACATTCTGATCCACCAATAGTTTTTCTATTGGAATCTTTCAGAGCTTTCAGGAAGCTAGAACAGTCGCTTCTGCTGTTACTAAAGTTTCCCCCGCAATCTGGCTTTCAGTCTCATCCTTGAGTTCACTTACATTGAAGAGCAGAGAAGGCACTGGTGTGAACCGCTCAACATGGATCATGCAGATGGCATCAGGGAGATGGCCTTCTCTTGAGCCCACAAAGAAAAGCCTATGTTAGGTAAGATAGGAGAAGCTGAGAAAATTGGTGGACACGGTGCAGCCTGGTTCACCTGCCACATGGCCCTCCCTCTCTGCCATCCCTTCCTTCAAAAGTATTTGGATAATATGGACTGGAGCTCAGTATTAAGATTAATGACAACTGCAGGCTTCTGCTAGAAACAAGAAGAAAGAGGTTGTGGTATCGGTTGGAGAACACAAGTAATCAAAGGCTGGGTCCTGTAAGTTCTGTCCACTGCATAGCCCTTTGATGATACACCCCTCACAAAAGTTGCCACTCTTACCTAGAAGCAGCCACAATGGAGGCATTGAGGCCACCAAAACAGGATAATGCAACTGACAGTGGAATTATCCAGTTAAATATTCCAAATATCTGATCTGCAAAAGTCTAAGGGAAAAGAATGGAAGAGTCATTAGCAGGATCTAAAAGGGATGAAAGACATGGATGGGCATGCCCCCAGATTCCCCTTATTAGGTATTCCAACCTTTCTTCCACAGTGGGGTTAACAGGACCTTCTTGCAAGCCCGGTATTCTAAATGAACTCCTTTCAAGGCTGTCTACCCCCTTTCCAGGACTTTCAAGAGCCAGAATATACCCAGTACCCCACAAGACACCCTCAACCTTCTGCTAGTGAAAATCCTTTACCACAGCAACAGCATCACTGGCCAAGATGTCTCTCATGTCTAGCACAGTATAATAGGCCACATTGGTCAAGATATAGATGATGGTGACAATGGGCATGGAGATGCCAATGGAGAGGGGCAGGTTCCTACAGCCAAATAGAATAAAATGCACATTAGTCCCACAGTCATATCCCTATCTCTCCTTTAATCCTTAGACTCTCCCTGCCACACCGGTCTTTCCAGGGATGGAGACTGTTGCTACATTTCCTCAATGCATTTGTCTTTGACGGTGCCCTGGATAGTGGCTGAAGCTCTGAACACTTAAGAACTAAAGAACATTAGGGGAAAGGAATATCATATTAGGAGACAGGACTGTGCAGCTGGGAGCAGTGGCTCATGCCTGTAGTACTAACACTTTGGGAGGCTGAGGCAGGGAGATGGCTCGAGTCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAAAACTAGCCAAGCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTTCCTACTAAAAATATAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGGAGGTCAAGGCTGCAGTGAACCATGACTGGGCCACTGCACTCCAGCCTGGGCAAGGCAGCCAGACCCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAGCAGGGCGGGGGGGATTAACAAAGACTGTCCCCAGCATCATAACGCACAGGAAAATGGGAGGTTGTTTTGTTTTATACCCCAAAGATCTTTTGGTGTCAGGATTCCATCTCTAAGATTATCAACATTGGCAATTTTGCCTCAAGGTTGAGAAATATAAAAAGAAATTATGGAGGCAAATTGTGAAATTTAACATCTTCAGAGAATAAGATAGGCCTTCAGTAGGAAGAGAAGTGTATGTATCTGACTAGCAGCCTGGAAGATATGTCTGCCCACCCCTTCCTCAGTTTGAGAACCTCAGGAGCCATCCTAACTGGTGGGCAAAAGAAAGATGCAAAGAGCTCTCAAGGTCCCTGTAGCCCAATAAAGCCATGATCTTTATAAGCATCCTTAACAGTAAGGCTGCCAAAAAAAAAGCACA
|
TGCCTAGGCCAGGCTTCTGGACAGGTGCCTCCAAAGAAGTGAGCTTTCCTTTTCAACTTCCTTAGCTCTAGCCAGTAGACCAGAAACCCCTGCTTTCCACATCAGGATTCCAGATGGTGTTTAGTTAGATTTGGGATCCCGTTGCTTGGGCATCTCTCCTCCATCTTCCAAATCCATTTCTGCAGCAACTGACATACACAGGACCTGGAGGTACCTTGTGGCAGACCCTACAAAGAGAACTTTGAGTTGGAATTGAGAAGAGGTCAGCTGGGCTGAGTTCAAGTGTCACTGAATGGAACTCAGTGTGAGGGGAGTGATTCCACTAAGCCGAAGGGTTCATAAGAAGGGGCTAAGGCAAAGATGTCTTTGGAGGCTGGATTTACAGAAAAAGGCAAAAACCAAGCTCTGCAATAGCTGAGCGGACTTAAGGATGCACGGCTTACCCACGATCCTTCGGAGGTAAAGCGGTCGCTTATGTTCTGGCACTCTGATGATGAGGAAGTAAAAGGGCAGGCCTGAGAGGGCAATGGCAATGCCGATGAGGGAGTTGATAGTATCACTGTAAAGTGGAACAGCCACCAGGAAGATGGTGCAGAGGCAGAAGACAATCGGGAAGAAAACGCTGAGCTAAGGGCACAGGAAACATAACTGGAGTGGACAACTCAGGATTCTTAACAGCTAAAATAACCCCACCTCCCATAAGGATTAGCGCACTGAGCCTTCTTTCCATACCTTTAATTTCAACACATTACTAACGACCAAGTCCCAGGCAAAGGTTTCTAAATAAAGTGCTTTGTCATAGTCCCTTGTAGCAACAACTCCAGCTGTTTCAGGTGGAGCAGAGGTAGGATGGAGTTGCCTTACCTTGAGGGGACGAGGTCGATCAGGCTCCTTCCAGCGCAGATAAAGCTGACCCACAATAGAAAGCCCCACAAAGAACCAGTAGCTGAAGCTGTAGTAGTTAATGAGCTGGAAGATGTCTTCCACGCACAAGTAGATCAATGCCATGATACCCTGTAAGCGTGAGCCTAAGTCAGCTCTTCTCAGGGCCTTTGTTAATCCAAAGGCTTTTCACTCCCTTTATACCCCAGAAATCCATCCCCTGTCAATCCTCAAAGTCTCCTGGTCCTCTTCTGGTTTTAATCCCTTTAACACCCTAGTTTCAGTACCTTATCCCCTCTCTTATAAGTCAGTAGTCTCAACTGGCTTTTCAACCCATTCTTCAAGTTAACCCTGTATAAAGCAAGCTCGAAACAATCCCTCAAAAGTCTTGCATAGGACCCTTTCCATAATGGCTCCAACCTACAATAACCCGCTCTTATCTCCTCCTACATGTTGAGTATCCCTGTTCTGAAAATCCAAAATGCTCCAATGAGCATTTCCTTTGAGTGTCAAGTCAGCACTCAAAAAGTTTCAGATTTTTAGAGCATTTCAGATTTTGGATATTCAGATTAGGGATACTCAACCTGTATTAAAACCCATACTGCTTTATCACAGGATTTTCTGATGCTATTTCTCCTACCTAAAGCCCATCTCTACCATTTGCAACCCTAGCCATCAAGATGCACTTTTTTTTTCTGAGAACACTTTGGTGGATTTTAAGACACACACACACACTTCTAGATGTAATTCTTCACCCTCTACTCCCATGGAAGTGATCGTTTCTTCTCTTAAACACCGTATCACTCACTATCTGTCATGGCAATCAATCATTACAGTGTATTCCATGTACTTTTTGCCTTATCTTAGAGCAGAGGTGTACCATTCCTTAGAGCATTTGGATTTCCCCTGTAGCGGTTAGCATAGTGCCTTGCCCGTGGTGAACATTCTGATCCACCAATAGTTTTTCTATTGGAATCTTTCAGAGCTTTCAGGAAGCTAGAACAGTCGCTTCTGCTGTTACTAAAGTTTCCCCCGCAATCTGGCTTTCAGTCTCATCCTTGAGTTCACTTACATTGAAGAGCAGAGAAGGCACTGGTGTGAACCGCTCAACATGGATCATGCAGATGGCATCAGGGAGATGGCCTTCTCTTGAGCCCACAAAGAAACGCCTATGTTAGGTAAGATAGGAGAAGCTGAGAAAATTGGTGGACACGGTGCAGCCTGGTTCACCTGCCACATGGCCCTCCCTCTCTGCCATCCCTTCCTTCAAAAGTATTTGGATAATATGGACTGGAGCTCAGTATTAAGATTAATGACAACTGCAGGCTTCTGCTAGAAACAAGAAGAAAGAGGTTGTGGTATCGGTTGGAGAACACAAGTAATCAAAGGCTGGGTCCTGTAAGTTCTGTCCACTGCATAGCCCTTTGATGATACACCCCTCACAAAAGTTGCCACTCTTACCTAGAAGCAGCCACAATGGAGGCATTGAGGCCACCAAAACAGGATAATGCAACTGACAGTGGAATTATCCAGTTAAATATTCCAAATATCTGATCTGCAAAAGTCTAAGGGAAAAGAATGGAAGAGTCATTAGCAGGATCTAAAAGGGATGAAAGACATGGATGGGCATGCCCCCAGATTCCCCTTATTAGGTATTCCAACCTTTCTTCCACAGTGGGGTTAACAGGACCTTCTTGCAAGCCCGGTATTCTAAATGAACTCCTTTCAAGGCTGTCTACCCCCTTTCCAGGACTTTCAAGAGCCAGAATATACCCAGTACCCCACAAGACACCCTCAACCTTCTGCTAGTGAAAATCCTTTACCACAGCAACAGCATCACTGGCCAAGATGTCTCTCATGTCTAGCACAGTATAATAGGCCACATTGGTCAAGATATAGATGATGGTGACAATGGGCATGGAGATGCCAATGGAGAGGGGCAGGTTCCTACAGCCAAATAGAATAAAATGCACATTAGTCCCACAGTCATATCCCTATCTCTCCTTTAATCCTTAGACTCTCCCTGCCACACCGGTCTTTCCAGGGATGGAGACTGTTGCTACATTTCCTCAATGCATTTGTCTTTGACGGTGCCCTGGATAGTGGCTGAAGCTCTGAACACTTAAGAACTAAAGAACATTAGGGGAAAGGAATATCATATTAGGAGACAGGACTGTGCAGCTGGGAGCAGTGGCTCATGCCTGTAGTACTAACACTTTGGGAGGCTGAGGCAGGGAGATGGCTCGAGTCTAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAAAACTAGCCAAGCAGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGCCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTTCCTACTAAAAATATAAATAATTAGCCAGGCATGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTACGAGAATCACTTGAACTCGAGAGGCGGAGGTTGTGGTAAGCCAAAATTGTGCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCTGTCTCCAAAAACAAACCAAAAAAAAAAAAATTAGCCAAGCGTGGTGGTGCATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGGAGGTCAAGGCTGCAGTGAACCATGACTGGGCCACTGCACTCCAGCCTGGGCAAGGCAGCCAGACCCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAGCAGGGCGGGGGGGATTAACAAAGACTGTCCCCAGCATCATAACGCACAGGAAAATGGGAGGTTGTTTTGTTTTATACCCCAAAGATCTTTTGGTGTCAGGATTCCATCTCTAAGATTATCAACATTGGCAATTTTGCCTCAAGGTTGAGAAATATAAAAAGAAATTATGGAGGCAAATTGTGAAATTTAACATCTTCAGAGAATAAGATAGGCCTTCAGTAGGAAGAGAAGTGTATGTATCTGACTAGCAGCCTGGAAGATATGTCTGCCCACCCCTTCCTCAGTTTGAGAACCTCAGGAGCCATCCTAACTGGTGGGCAAAAGAAAGATGCAAAGAGCTCTCAAGGTCCCTGTAGCCCAATAAAGCCATGATCTTTATAAGCATCCTTAACAGTAAGGCTGCCAAAAAAAAAGCACA
|
Task1_train_19473
|
This mutation occurs in LOC130055324, SLC7A7 (ATAC-STARR-seq lymphoblastoid silent region 5590| solute carrier family 7 member 7) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Lysinuric protein intolerance
|
GTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACACAGTGAAACCCCGTCTCCACCAAAAATACAAAAAAATTAGCTAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGATGGAGGTTGCAGTGAGCTGAGATTGCACCACTCAAGCCTGGGCGACAGAGTGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAATCCAGCCTACAGAAATACTCATGCAGCTGCAAAAAGATATTCACTGGAGCATTATCTGTAAGACTGAGAAACTGAAACCAACGTACATGGCCATTAACAGAGGACCAGCTAGATAAATAAACTACTATGCATCCTTAAAATTCACATGAAATAATATGAAGCATTTTTTAAAAAGTAGATCTGTAAGTAGAAAAGAATGTCACTGATAATGCTAGAGGAAAAGCACACTGTAGAATTACATGTAGACTAGTATGACCTCATTTTTGTAAAAGAACAAAACTACACCTCTTTTTTTTTTATTTTTATTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCTGCCAAAACTACATCTCTTGAAGGAACAAGAAAAAAAAATCAGTGTGCCTGTGGTCCCTGCTACTCAGGAGGCTGAGGCAGGAGGATAGCTTGAGCCTAGAAGTTCGAGGCTGAAGTAAGGTATAATCACACCACTGCACTCCAGTCTGGGTGACAGAGCAAAATACCTGTCTCTTTAAAAAAAAAAAAAAAAAATCAGGAAGAATATGCAAACTGCTAATAGTGCTTACTGTGAGAAGCTGGGGAAAAGGTGAGTGTTTTTGCGATACACTGTGGTACTGTTTGAATTTTCACACAAAGCATACTTTAACTATATATATATATATATATGTTGTCAGAGACATTCCTCTCTATCTCCTTCTTACTCCCAGACTGCACTCACATCCCAGCCTCTGTCCAGCCCTCCACCCACCACCTCCTACCCCAGCCCCACTTACAAATGCAGGCAGCAGCCAGCAGGCGGCTGGCAGCATAAGGGGCGAAGCAGCTCGGGAAGAGAGGCTGTACCATGTAGTTGGCAAAGGTGATGGCAATGATGGCCTGGCTGGTGGGCTCAATGATGAGCAGGGAGGTCCAGAGTCTGATGAAAGCAAGGAATCCTCCAAAGGCCTCCAGGATATAGGCATAGCTGGCCCCAGATTTCTTAATGGTGGTGCCCAGTTCCGCATAACAAAGGGCCCCAAAGACGGAGAAGAGGCCCCCGACAGCCCAGATGACCAGAGAGAGACCAAAGGAGGCACTGTATATGAGCACACCCTTGGGGGAAACAAAGATGCCCGAGCCGATCATGTTCCCCACAATCAGGCACACGCCGTTAAGCAGTGAGATCTCCTTCTTCAGCTTCACCTGCTCCGGCCCTGGGCTGGCCCCATCACCCAAAGGGGAGGTTTCCACCTCAGGCTGGGAGGCCACTTCATACTCAGTGCTGTCAACCATGGTGGAGGAGAGGAAACCCTTCACCAGCTTCCTGGCATTGCCCTTTAAGGAAGAAAGATGATGCTATAGATTAGGTGGTTGGCAATTACATAGAACCTCTACCCGCCTCCAACACAGGGTAATACGGGCAGCTCACCAACCAATGCGGAGACCTCCAAATAACCTTTTCTCCAGCTCACTCATCAAAACAACCCCAACTTGAATATTTGTCTATCTATCTATGTATTTATTTATTTATTGACAGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCGGCTCACTGCAACCTCAGCCTCCCGGGTTCAAGCGCTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACGCGTGGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGATGGTCTCAAACTCCCGACCTCAGGTTATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCCAGCCTCCAACTTGAATTTTTAAGAGAAGGCACTCATTCGCCAGAGAGAAAGGATCTGTCTCTCATCATTAGGACATTGCTGCCCACCCGACTCACCAAATAGAGAACTAAATCTTGGGCCGGGCGCTGTGGCTCACATCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTAAAGTCGGGAGTTCGAGACCAGCCTGACCAACATTTAGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCAGAGGTTGCGGTAAGCTAAGACTGGGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAACAAAATCAAAAACAAAACACTAAATGTTGGTTCTCTCTGAGCCTGCTATAATACAAGACAGGCATGGGGGCAGTGTGGCGGCTCCCAGAAAATAACTATAATGGCTTGACCCCGAGTTTTCAGCCTTATCCAAAACCCGTCTTCCCTCCAATTTCAGCTTCAGGGATCACCTGTGCTGAGGTACAACATTAGGAACTGACCCTACCAGCAGCTAATCTGTGGGAGCGTCTCATGACACTGCTCTTTTCCCCAAGGACTCTACGTCTGCCAAAACTAAAGGCTTCAGAAACCTGCTGGAAACCCACAACCATCCTCCTGCCCAAAGAGCATCCCTTAACCCTTAGCTGGAGTCTTCAGCCCTGGCAAAGCCCAAGTAGACCCACTTCACCCTGAAAGAAGACAGGCTATTATCTTTTCCTTGCTTTTCCTTTCCCATTCTCTGGTATTCTAAGCCTCCTGCTATCGATCCCTCACATCAGCATCGTTGAATCACCCAAAAAAGTATGAATGAGAGAAGGGCGATCCAATGTACCATAAAACCTAGGGATGATTGGAGGCAGCTGATGGCCACTCCCTACCCCAGAGTTGCTGCTGGAGAGATATCACCCCGAGCCAAGGCAGGGAGACAGCTGCAGCCAGGCAGCACATGCTGGAAAACACCGAACAGGAGACAGCTGAGAGGAAAATGGGAGAGGCTAGTCAAGCAATGGAGAGATGTTAGGGTGAGAGGCACTCGGGAGAAGAAGCGATTAGACACTGCACAGCAGCAAAGAGGAGGGTTAGCAAGGTAAGTGGAGATGAGAAGAGGGTGGAACGCACACTCACTCCTTGGTCCTGGATATAAGCAGGTTCTCACGGCAGTGTGAGCAGCAGTCAGGGAGAGAAGTGCCTTCCAGGATCTGTGGTCTGATGCTCCTCCTTCCCAGCCAGCAGTAAAAGGGAAGGCCAG
|
GTTGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACACAGTGAAACCCCGTCTCCACCAAAAATACAAAAAAATTAGCTAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGATGGAGGTTGCAGTGAGCTGAGATTGCACCACTCAAGCCTGGGCGACAGAGTGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAATCCAGCCTACAGAAATACTCATGCAGCTGCAAAAAGATATTCACTGGAGCATTATCTGTAAGACTGAGAAACTGAAACCAACGTACATGGCCATTAACAGAGGACCAGCTAGATAAATAAACTACTATGCATCCTTAAAATTCACATGAAATAATATGAAGCATTTTTTAAAAAGTAGATCTGTAAGTAGAAAAGAATGTCACTGATAATGCTAGAGGAAAAGCACACTGTAGAATTACATGTAGACTAGTATGACCTCATTTTTGTAAAAGAACAAAACTACACCTCTTTTTTTTTTATTTTTATTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCTGCCAAAACTACATCTCTTGAAGGAACAAGAAAAAAAAATCAGTGTGCCTGTGGTCCCTGCTACTCAGGAGGCTGAGGCAGGAGGATAGCTTGAGCCTAGAAGTTCGAGGCTGAAGTAAGGTATAATCACACCACTGCACTCCAGTCTGGGTGACAGAGCAAAATACCTGTCTCTTTAAAAAAAAAAAAAAAAAATCAGGAAGAATATGCAAACTGCTAATAGTGCTTACTGTGAGAAGCTGGGGAAAAGGTGAGTGTTTTTGCGATACACTGTGGTACTGTTTGAATTTTCACACAAAGCATACTTTAACTATATATATATATATATATGTTGTCAGAGACATTCCTCTCTATCTCCTTCTTACTCCCAGACTGCACTCACATCCCAGCCTCTGTCCAGCCCTCCACCCACCACCTCCTACCCCAGCCCCACTTACAAATGCAGGCAGCAGCCAGCAGGCGGCTGGCAGCATAAGGGGCGAAGCAGCTCGGGAAGAGAGGCTGTACCATGTAGTTGGCAAAGGTGATGGCAATGATGGCCTGGCTGGTGGGCTCAATGATGAGCAGGGAGGTCCAGAGTCTGATGAAAGCAAGGAATCCTCCAAAGGCCTCCAGGATATAGGCATAGCTGGCCCCAGATTTCTTAATGGTGGTGCCCAGTTCCGCATAACAAAGGGCCCCAAAGACGGAGAAGAGGCCCCCGACAGCCCAGATGACCAGAGAGAGACCAAAGGAGGCACTGTATATGAGCACACCCTTGGGGGAAACAAAGATGCCCGAGCCGATCATGTTCCCCACAATCAGGCACACGCCGTTAAGCAGTGAGATCTCCTTCTTCAGCTTCACCTGCTCCGGCCCTGGGCTGGCCCCATCACCCAAAGGGGAGGTTTCCACCTCAGGCTGGGAGGCCACTTCATACTCAGTGCTGTCAACTATGGTGGAGGAGAGGAAACCCTTCACCAGCTTCCTGGCATTGCCCTTTAAGGAAGAAAGATGATGCTATAGATTAGGTGGTTGGCAATTACATAGAACCTCTACCCGCCTCCAACACAGGGTAATACGGGCAGCTCACCAACCAATGCGGAGACCTCCAAATAACCTTTTCTCCAGCTCACTCATCAAAACAACCCCAACTTGAATATTTGTCTATCTATCTATGTATTTATTTATTTATTGACAGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCGGCTCACTGCAACCTCAGCCTCCCGGGTTCAAGCGCTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACGCGTGGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGATGGTCTCAAACTCCCGACCTCAGGTTATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCCAGCCTCCAACTTGAATTTTTAAGAGAAGGCACTCATTCGCCAGAGAGAAAGGATCTGTCTCTCATCATTAGGACATTGCTGCCCACCCGACTCACCAAATAGAGAACTAAATCTTGGGCCGGGCGCTGTGGCTCACATCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTAAAGTCGGGAGTTCGAGACCAGCCTGACCAACATTTAGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCAGAGGTTGCGGTAAGCTAAGACTGGGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAACAAAATCAAAAACAAAACACTAAATGTTGGTTCTCTCTGAGCCTGCTATAATACAAGACAGGCATGGGGGCAGTGTGGCGGCTCCCAGAAAATAACTATAATGGCTTGACCCCGAGTTTTCAGCCTTATCCAAAACCCGTCTTCCCTCCAATTTCAGCTTCAGGGATCACCTGTGCTGAGGTACAACATTAGGAACTGACCCTACCAGCAGCTAATCTGTGGGAGCGTCTCATGACACTGCTCTTTTCCCCAAGGACTCTACGTCTGCCAAAACTAAAGGCTTCAGAAACCTGCTGGAAACCCACAACCATCCTCCTGCCCAAAGAGCATCCCTTAACCCTTAGCTGGAGTCTTCAGCCCTGGCAAAGCCCAAGTAGACCCACTTCACCCTGAAAGAAGACAGGCTATTATCTTTTCCTTGCTTTTCCTTTCCCATTCTCTGGTATTCTAAGCCTCCTGCTATCGATCCCTCACATCAGCATCGTTGAATCACCCAAAAAAGTATGAATGAGAGAAGGGCGATCCAATGTACCATAAAACCTAGGGATGATTGGAGGCAGCTGATGGCCACTCCCTACCCCAGAGTTGCTGCTGGAGAGATATCACCCCGAGCCAAGGCAGGGAGACAGCTGCAGCCAGGCAGCACATGCTGGAAAACACCGAACAGGAGACAGCTGAGAGGAAAATGGGAGAGGCTAGTCAAGCAATGGAGAGATGTTAGGGTGAGAGGCACTCGGGAGAAGAAGCGATTAGACACTGCACAGCAGCAAAGAGGAGGGTTAGCAAGGTAAGTGGAGATGAGAAGAGGGTGGAACGCACACTCACTCCTTGGTCCTGGATATAAGCAGGTTCTCACGGCAGTGTGAGCAGCAGTCAGGGAGAGAAGTGCCTTCCAGGATCTGTGGTCTGATGCTCCTCCTTCCCAGCCAGCAGTAAAAGGGAAGGCCAG
|
Task1_train_19474
|
Consider a variant on Chromosome 14 in gene LOC130055324, SLC7A7 (ATAC-STARR-seq lymphoblastoid silent region 5590| solute carrier family 7 member 7). Determine its clinical classification and disease relevance.
|
Pathogenic; Lysinuric protein intolerance
|
TGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACACAGTGAAACCCCGTCTCCACCAAAAATACAAAAAAATTAGCTAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGATGGAGGTTGCAGTGAGCTGAGATTGCACCACTCAAGCCTGGGCGACAGAGTGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAATCCAGCCTACAGAAATACTCATGCAGCTGCAAAAAGATATTCACTGGAGCATTATCTGTAAGACTGAGAAACTGAAACCAACGTACATGGCCATTAACAGAGGACCAGCTAGATAAATAAACTACTATGCATCCTTAAAATTCACATGAAATAATATGAAGCATTTTTTAAAAAGTAGATCTGTAAGTAGAAAAGAATGTCACTGATAATGCTAGAGGAAAAGCACACTGTAGAATTACATGTAGACTAGTATGACCTCATTTTTGTAAAAGAACAAAACTACACCTCTTTTTTTTTTATTTTTATTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCTGCCAAAACTACATCTCTTGAAGGAACAAGAAAAAAAAATCAGTGTGCCTGTGGTCCCTGCTACTCAGGAGGCTGAGGCAGGAGGATAGCTTGAGCCTAGAAGTTCGAGGCTGAAGTAAGGTATAATCACACCACTGCACTCCAGTCTGGGTGACAGAGCAAAATACCTGTCTCTTTAAAAAAAAAAAAAAAAAATCAGGAAGAATATGCAAACTGCTAATAGTGCTTACTGTGAGAAGCTGGGGAAAAGGTGAGTGTTTTTGCGATACACTGTGGTACTGTTTGAATTTTCACACAAAGCATACTTTAACTATATATATATATATATATGTTGTCAGAGACATTCCTCTCTATCTCCTTCTTACTCCCAGACTGCACTCACATCCCAGCCTCTGTCCAGCCCTCCACCCACCACCTCCTACCCCAGCCCCACTTACAAATGCAGGCAGCAGCCAGCAGGCGGCTGGCAGCATAAGGGGCGAAGCAGCTCGGGAAGAGAGGCTGTACCATGTAGTTGGCAAAGGTGATGGCAATGATGGCCTGGCTGGTGGGCTCAATGATGAGCAGGGAGGTCCAGAGTCTGATGAAAGCAAGGAATCCTCCAAAGGCCTCCAGGATATAGGCATAGCTGGCCCCAGATTTCTTAATGGTGGTGCCCAGTTCCGCATAACAAAGGGCCCCAAAGACGGAGAAGAGGCCCCCGACAGCCCAGATGACCAGAGAGAGACCAAAGGAGGCACTGTATATGAGCACACCCTTGGGGGAAACAAAGATGCCCGAGCCGATCATGTTCCCCACAATCAGGCACACGCCGTTAAGCAGTGAGATCTCCTTCTTCAGCTTCACCTGCTCCGGCCCTGGGCTGGCCCCATCACCCAAAGGGGAGGTTTCCACCTCAGGCTGGGAGGCCACTTCATACTCAGTGCTGTCAACCATGGTGGAGGAGAGGAAACCCTTCACCAGCTTCCTGGCATTGCCCTTTAAGGAAGAAAGATGATGCTATAGATTAGGTGGTTGGCAATTACATAGAACCTCTACCCGCCTCCAACACAGGGTAATACGGGCAGCTCACCAACCAATGCGGAGACCTCCAAATAACCTTTTCTCCAGCTCACTCATCAAAACAACCCCAACTTGAATATTTGTCTATCTATCTATGTATTTATTTATTTATTGACAGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCGGCTCACTGCAACCTCAGCCTCCCGGGTTCAAGCGCTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACGCGTGGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGATGGTCTCAAACTCCCGACCTCAGGTTATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCCAGCCTCCAACTTGAATTTTTAAGAGAAGGCACTCATTCGCCAGAGAGAAAGGATCTGTCTCTCATCATTAGGACATTGCTGCCCACCCGACTCACCAAATAGAGAACTAAATCTTGGGCCGGGCGCTGTGGCTCACATCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTAAAGTCGGGAGTTCGAGACCAGCCTGACCAACATTTAGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCAGAGGTTGCGGTAAGCTAAGACTGGGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAACAAAATCAAAAACAAAACACTAAATGTTGGTTCTCTCTGAGCCTGCTATAATACAAGACAGGCATGGGGGCAGTGTGGCGGCTCCCAGAAAATAACTATAATGGCTTGACCCCGAGTTTTCAGCCTTATCCAAAACCCGTCTTCCCTCCAATTTCAGCTTCAGGGATCACCTGTGCTGAGGTACAACATTAGGAACTGACCCTACCAGCAGCTAATCTGTGGGAGCGTCTCATGACACTGCTCTTTTCCCCAAGGACTCTACGTCTGCCAAAACTAAAGGCTTCAGAAACCTGCTGGAAACCCACAACCATCCTCCTGCCCAAAGAGCATCCCTTAACCCTTAGCTGGAGTCTTCAGCCCTGGCAAAGCCCAAGTAGACCCACTTCACCCTGAAAGAAGACAGGCTATTATCTTTTCCTTGCTTTTCCTTTCCCATTCTCTGGTATTCTAAGCCTCCTGCTATCGATCCCTCACATCAGCATCGTTGAATCACCCAAAAAAGTATGAATGAGAGAAGGGCGATCCAATGTACCATAAAACCTAGGGATGATTGGAGGCAGCTGATGGCCACTCCCTACCCCAGAGTTGCTGCTGGAGAGATATCACCCCGAGCCAAGGCAGGGAGACAGCTGCAGCCAGGCAGCACATGCTGGAAAACACCGAACAGGAGACAGCTGAGAGGAAAATGGGAGAGGCTAGTCAAGCAATGGAGAGATGTTAGGGTGAGAGGCACTCGGGAGAAGAAGCGATTAGACACTGCACAGCAGCAAAGAGGAGGGTTAGCAAGGTAAGTGGAGATGAGAAGAGGGTGGAACGCACACTCACTCCTTGGTCCTGGATATAAGCAGGTTCTCACGGCAGTGTGAGCAGCAGTCAGGGAGAGAAGTGCCTTCCAGGATCTGTGGTCTGATGCTCCTCCTTCCCAGCCAGCAGTAAAAGGGAAGGCCAGAC
|
TGCAGGGTGGAAGGCATCTCTAAGGTCCTAGGCTCTCCCAGGTTGGAAGGGCATTTTTCAAGAATAGTGGCATCTGAGGGATGGGGCTATGGAGAATCATCATCTCAGCACCTCCAATGGCTTTACTGAATGTACAGATTTAAATAATGTTTTATTTATGAGATGGAGAAAAAGCCAAGGTGGACTGAAATGACAGTATTAAAAATCTAGCCCACAGAGGCCGGGTGCAGTGGCTCACGCCTGTGATCCCAACACTTTGGGAAGCCAAGGCAGGTAGATCACTTGAGCTCAGGAGTTCGAGTCCAGCCTGGCCAACACAGTGAAACCCCGTCTCCACCAAAAATACAAAAAAATTAGCTAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGATGGAGGTTGCAGTGAGCTGAGATTGCACCACTCAAGCCTGGGCGACAGAGTGACTCTATCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAATCCAGCCTACAGAAATACTCATGCAGCTGCAAAAAGATATTCACTGGAGCATTATCTGTAAGACTGAGAAACTGAAACCAACGTACATGGCCATTAACAGAGGACCAGCTAGATAAATAAACTACTATGCATCCTTAAAATTCACATGAAATAATATGAAGCATTTTTTAAAAAGTAGATCTGTAAGTAGAAAAGAATGTCACTGATAATGCTAGAGGAAAAGCACACTGTAGAATTACATGTAGACTAGTATGACCTCATTTTTGTAAAAGAACAAAACTACACCTCTTTTTTTTTTATTTTTATTTTTTTGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCACACCCTGCCAAAACTACATCTCTTGAAGGAACAAGAAAAAAAAATCAGTGTGCCTGTGGTCCCTGCTACTCAGGAGGCTGAGGCAGGAGGATAGCTTGAGCCTAGAAGTTCGAGGCTGAAGTAAGGTATAATCACACCACTGCACTCCAGTCTGGGTGACAGAGCAAAATACCTGTCTCTTTAAAAAAAAAAAAAAAAAATCAGGAAGAATATGCAAACTGCTAATAGTGCTTACTGTGAGAAGCTGGGGAAAAGGTGAGTGTTTTTGCGATACACTGTGGTACTGTTTGAATTTTCACACAAAGCATACTTTAACTATATATATATATATATATGTTGTCAGAGACATTCCTCTCTATCTCCTTCTTACTCCCAGACTGCACTCACATCCCAGCCTCTGTCCAGCCCTCCACCCACCACCTCCTACCCCAGCCCCACTTACAAATGCAGGCAGCAGCCAGCAGGCGGCTGGCAGCATAAGGGGCGAAGCAGCTCGGGAAGAGAGGCTGTACCATGTAGTTGGCAAAGGTGATGGCAATGATGGCCTGGCTGGTGGGCTCAATGATGAGCAGGGAGGTCCAGAGTCTGATGAAAGCAAGGAATCCTCCAAAGGCCTCCAGGATATAGGCATAGCTGGCCCCAGATTTCTTAATGGTGGTGCCCAGTTCCGCATAACAAAGGGCCCCAAAGACGGAGAAGAGGCCCCCGACAGCCCAGATGACCAGAGAGAGACCAAAGGAGGCACTGTATATGAGCACACCCTTGGGGGAAACAAAGATGCCCGAGCCGATCATGTTCCCCACAATCAGGCACACGCCGTTAAGCAGTGAGATCTCCTTCTTCAGCTTCACCTGCTCCGGCCCTGGGCTGGCCCCATCACCCAAAGGGGAGGTTTCCACCTCAGGCTGGGAGGCCACTTCATACTCAGTGCTGTCAACCAGGGTGGAGGAGAGGAAACCCTTCACCAGCTTCCTGGCATTGCCCTTTAAGGAAGAAAGATGATGCTATAGATTAGGTGGTTGGCAATTACATAGAACCTCTACCCGCCTCCAACACAGGGTAATACGGGCAGCTCACCAACCAATGCGGAGACCTCCAAATAACCTTTTCTCCAGCTCACTCATCAAAACAACCCCAACTTGAATATTTGTCTATCTATCTATGTATTTATTTATTTATTGACAGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCGGCTCACTGCAACCTCAGCCTCCCGGGTTCAAGCGCTTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCACGCGTGGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGATGGTCTCAAACTCCCGACCTCAGGTTATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCCAGCCTCCAACTTGAATTTTTAAGAGAAGGCACTCATTCGCCAGAGAGAAAGGATCTGTCTCTCATCATTAGGACATTGCTGCCCACCCGACTCACCAAATAGAGAACTAAATCTTGGGCCGGGCGCTGTGGCTCACATCTGTAAACCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTAAAGTCGGGAGTTCGAGACCAGCCTGACCAACATTTAGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCATGCGTGGTGGCACATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCACTTGAGCCCGGGAGGCAGAGGTTGCGGTAAGCTAAGACTGGGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAACAAAATCAAAAACAAAACACTAAATGTTGGTTCTCTCTGAGCCTGCTATAATACAAGACAGGCATGGGGGCAGTGTGGCGGCTCCCAGAAAATAACTATAATGGCTTGACCCCGAGTTTTCAGCCTTATCCAAAACCCGTCTTCCCTCCAATTTCAGCTTCAGGGATCACCTGTGCTGAGGTACAACATTAGGAACTGACCCTACCAGCAGCTAATCTGTGGGAGCGTCTCATGACACTGCTCTTTTCCCCAAGGACTCTACGTCTGCCAAAACTAAAGGCTTCAGAAACCTGCTGGAAACCCACAACCATCCTCCTGCCCAAAGAGCATCCCTTAACCCTTAGCTGGAGTCTTCAGCCCTGGCAAAGCCCAAGTAGACCCACTTCACCCTGAAAGAAGACAGGCTATTATCTTTTCCTTGCTTTTCCTTTCCCATTCTCTGGTATTCTAAGCCTCCTGCTATCGATCCCTCACATCAGCATCGTTGAATCACCCAAAAAAGTATGAATGAGAGAAGGGCGATCCAATGTACCATAAAACCTAGGGATGATTGGAGGCAGCTGATGGCCACTCCCTACCCCAGAGTTGCTGCTGGAGAGATATCACCCCGAGCCAAGGCAGGGAGACAGCTGCAGCCAGGCAGCACATGCTGGAAAACACCGAACAGGAGACAGCTGAGAGGAAAATGGGAGAGGCTAGTCAAGCAATGGAGAGATGTTAGGGTGAGAGGCACTCGGGAGAAGAAGCGATTAGACACTGCACAGCAGCAAAGAGGAGGGTTAGCAAGGTAAGTGGAGATGAGAAGAGGGTGGAACGCACACTCACTCCTTGGTCCTGGATATAAGCAGGTTCTCACGGCAGTGTGAGCAGCAGTCAGGGAGAGAAGTGCCTTCCAGGATCTGTGGTCTGATGCTCCTCCTTCCCAGCCAGCAGTAAAAGGGAAGGCCAGAC
|
Task1_train_19475
|
This variant affects gene MMP14 (matrix metallopeptidase 14) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Winchester syndrome
|
ACCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAATTTACCTCCTTTGCAGGCCATAGGACTAGCCCAACTATGAGAAATAGCTGTTCTGTGAACGTGAAAAGGGGACAGCAGTTTTCCCAGTTTTGGCCAGGCAGTCAAGCCTTTAACAGCTCATGCACAGTTTAGGCCATGTACAGCTGGCATCTAATAAATGTTTTCATGAAAAAGATTTTCTAGCCAAGGTCCCTTTTTTGGCAAGCATCTGGTGTCAGTCTTCCTAAGATTCAGATATGTGGTCCAGGAGGTTACCCCCACTGGGAAGGCTGATGTGGGAAGAATCATACCTGGGTGTTGCGTGTTCTGCCGAGAGTGGGGTCCTGAGGTCTCCATGGTTCTGAATGCATTCCAGAGATTGGTTGAAGAGGGGCCTGTACCTCCCAACCCCAGCTTGTGTAGGAAAGCCCTACATAAGGGCTCAGCCCTCAGTCACTGTGGGGTAGGTAGCTGTTTAATAACACACACCATATACCTCCCACAAACCTGGAGGCTCCACAGGACCTGAAAAGCTTTTCATTTTATTGATCATGAATCTGAGGGCAAAAGACCTTTGTTTTCATTACAATACTGAGCACTAGACTTCTATTCTTCTGCCACAGAAGTGCATCCCTAGGATTTCTGGAGCTTCCTACCTGACCTAATTTCTGTCCACCCTCCTCTATTCCTTCCTTTGCTTTCTTCTCCCTTCCTCCTCGCACTACCTCTGTCCTCTCTCACTGGCCAAATGCAATTCTTGGATCTTAGATTTCGCTGATAGTCTAGTTTTCTGTCTCCCACACTTTTCCTGCTTCTGTTGTGCTTCTTTTCCAGACCTGTCTAGTTCCCAACTCATCTGTCTCCCTTTCTCACGGTCAGCTTTATCCTGCCCTCTCCCTTCCCTACATACCTCCACCTTTTGTTCTGAGTCCAGTAAGTCCCTAAAGGAGATTATAACTCTTTAAGAATTGCCTCCTTTTTCAGTGTAGAGGTGGAACTAAACCCCAGAGTCCCAACTCCCAATCCCTTCTTTTACAATAATTTCACCCAACTTGATTTGCTTTCCCCCAGATCCCACGGCCTTGTACCCTTTTCCTCCCAGCGAGTTCCAATTAAAGGTGCAGCCACATTACAAATGACAATAAAGGAATCACCTTTGTCTTTCTACAAAGGTTGGAGCCACAGATCCGGTATGGTTGTGGGGTTTGTTGTTGGTAGTTGGGTTATAGTTTGGATTTTTTAGCAGCAGAGGGAGGGACATAGACAGTTGTCTACAGGGCCCAGAAGATAACCCCCTATTAGTAAACTGGCCCCTTCTCCCTCTGCAGGTCTCATGGGCATGGAAGAAGACCCCACCACCATCCCACACTCTGAGCTCCTCGTTGCCCCTAGCCACATAGCCCCCAATAATTCCCACCCTGAGGTGAGACAAATGCTGAATACCAGAGGAATCAAGCCACTCAGAATATGCTTATAGGGACAAAGTCTCCCACATCCCGTCCCCTGGATCCCCCTACAGCCCCCTGCTGTCCATCGCGGCCTCAACCCCTGCAGATGGCAGCCTGCACCACAAAAAGGCAACTTAGAGGTGTTTTTTTTTTTTTTCCTTCCAGTTCTTGGTTGTAATTGGATTCAGGCTAAAACAACCACGTCCCCAACCAGGAAAGGAGGGCACTGGGGCGGGGACGGAGGAGAGGCTGTGGGAGAAGGGAGGGACCAGAGGAGAGAGCGAGAGAGGGAACCAGACCCCAGTTCGCCGACTAAGCAGAAGAAAGATCAAAAACCGGAAAAGAGGAGAAGAGCAAACAGGCACTTTGAGGAACAATCCCCTTTAACTCCAAGCCGACAGCGGTCTAGGAATTCAAGTTCAGTGCCTACCGAAGACAAAGGCGCCCCGAGGGAGTGGCGGTGCGACCCCAGGGCGTGGGCCCGGCCGCGGAGCCCACACTGCCCGGCTGACCCGGTGGTCTCGGACCATGTCTCCCGCCCCAAGACCCCCCCGTTGTCTCCTGCTCCCCCTGCTCACGCTCGGCACCGCGCTCGCCTCCCTCGGCTCGGCCCAAAGCAGCAGCTTCAGCCCCGAAGTAAGTGAGCTTCCCGGCCCTTCCCGGAGTCGCGCCCGCCGGGAGGCGAGCCCGGGGGTCTCCTAGGGGACAGCCTCTATTCGGAGAGGAGGGCTTTTGGGATCTCCGCTGCTCAGGCCTGCAGGATTCCCCCTCCCTTTCTTTTTCCTCTTCGTCTCCAAACTTCCAGATCGATCCAACTTTTGCCCGCTTCCAACCAGCTGCCCCCACCCCCTGCGCCGCCGACTCTCCTTCCCATTCCTTCTTTTTTCCCAGTCCTTGGAAGAACTTTACAACTGGGGCGAACTCCCCCTTCCCCGATTCCCTTGGGCTCTGCTCTCAGCTCTGGAACCGCCTGATAAACATTTGGACTCCGCTCAAACCCCGCGCTGTCCCGGCTCCTCGTCATGCGCGAGAGTTTGTTGTTTCTTCGACTTCCCAGCTCTCCAGCGCTCTCCCGCCGGCGCGCCCTCCGATGGGCGCTTCGGCCTCCCCGGGTGGCCCAGGCCTTCAGCGGACGAGTCTGCGGCCAGGTGGGGGTCGAGGGTGGACGGCCGAGCGTCCAGGGCCACAGCCCCCGTCTCCCCGAGAGGACCCCGCTGTGTCCCTACCCGCATCCCTGGCGTCGAGGGTCGCAGCGCCGGCGCGCTGGCCGCGTTTCCGTACACACAAAGCTCTCCTTGTGAGCCGGGCGATCGGCCGGGTCGCTGCCTCCCCCTATCCCCACCCGCGTCGGCGCCTTCAGGCCCTTTTTGTTGTTAATAGTTTTTCTGTGTTAATTGCAGGGAGCCTGGGGGCGTCGCTTGGGGAATGGGGAGAGGGTCTGGTCCGGGGTGCCCTCACGTCGGGGCTGGCTCGGGCGCCCCCCACCCTCACCCCGGCCCAGACGGTGGCCCACCGGGCCCCAGAGGAAGCTGCGTGGGAGTTGTCTGAGGAGGTTTTTCCTCTCTCTCTCTTATTTTGGGGTGAAGGTGGGAGACGGATTTAATGAGCTTCTTATTTTGGGCCATCTCAACCCACTCAGCCTGGCAAGGGCCTGGGTGCGGTTGGGAGGGGCCAGGAAGGGCCCTAGAAGGGGGATGGGATATGGGTTTGGCTTCTCCTCCTTGGTCCCACCCCGGAGAAAACTCTTTGGAAAGAATACTGTCTTCTCTCTGCGTCCCTGAAAGGGTCTGGGGCCGACTGGAAAAGTATGGCCCCAGGAATCGGGGTGGAAGACGAAACGTGGAGTGCTCAGAGACCAGGGAGAGTAAAAACCTGCCCTGGTGCTGGAGGCTGAGCCTGACTGTCCGGGAGGAGTCGTCCTCTTCCCAGGCCTAGAGTCCTCTGAGACCTGAAAGGGAGCGCCCCTAACAAAACGAGCCTGAGCATCTGGGGAGCTGCCGACCGCCAACTTCACTGCCTTACCTTTTTTCCCTCCCCTGCTTTGCTGGGTCCCCCAGGGGAGGGGCGGCTGCCCTGGCTCCGTTTTAATTGGGTCATGGGCGGTCCCAGTGCCAGAACCACCATTTGCTTCTGGGCCCAGGAAGGGAGGGAGGAGCAGCCCCAGAGGCTAGGATCCAGGGCCTACTGCAGAGCTGGAGGTCCCCCCACCCTCCCCTGGACCCCTAAGCCAAGGTGGGAGGTGTTCCGTTGACTTTCTCCTAGGGGATACCTTGCATCTCTCTCATTCGCAAAGACAAAGCCAGCCGACTGGGTTCTTTGACCCAACATAGTTGCTTTTTTCTCCAGGCCAATGTGGAGGGAAAGCTGGGGTGGTGCAGGCCTCATGCAGCTGGGTCCCTCCTACCAGGCCTCCAGAGTCCTGCACCAGCTCCAGGACAGCCCTCTCCTCCCCATGGCCTGTCTGGCGCTGGGCCCTTCCTCCCACCCAGCCGCAGACACAAGAGTCCTCTCTTCTGTGGTTTCGACCTCATAGTCTCTGTGAGGAGAGAAACTTGCCTAGGCCTGGGGGGAGGAGAGGGATGGGGGCACTTCCTTTCCAGGCCTTGCGGCTCTCTTGACTCCAGG
|
ACCTGGGCGACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAATTTACCTCCTTTGCAGGCCATAGGACTAGCCCAACTATGAGAAATAGCTGTTCTGTGAACGTGAAAAGGGGACAGCAGTTTTCCCAGTTTTGGCCAGGCAGTCAAGCCTTTAACAGCTCATGCACAGTTTAGGCCATGTACAGCTGGCATCTAATAAATGTTTTCATGAAAAAGATTTTCTAGCCAAGGTCCCTTTTTTGGCAAGCATCTGGTGTCAGTCTTCCTAAGATTCAGATATGTGGTCCAGGAGGTTACCCCCACTGGGAAGGCTGATGTGGGAAGAATCATACCTGGGTGTTGCGTGTTCTGCCGAGAGTGGGGTCCTGAGGTCTCCATGGTTCTGAATGCATTCCAGAGATTGGTTGAAGAGGGGCCTGTACCTCCCAACCCCAGCTTGTGTAGGAAAGCCCTACATAAGGGCTCAGCCCTCAGTCACTGTGGGGTAGGTAGCTGTTTAATAACACACACCATATACCTCCCACAAACCTGGAGGCTCCACAGGACCTGAAAAGCTTTTCATTTTATTGATCATGAATCTGAGGGCAAAAGACCTTTGTTTTCATTACAATACTGAGCACTAGACTTCTATTCTTCTGCCACAGAAGTGCATCCCTAGGATTTCTGGAGCTTCCTACCTGACCTAATTTCTGTCCACCCTCCTCTATTCCTTCCTTTGCTTTCTTCTCCCTTCCTCCTCGCACTACCTCTGTCCTCTCTCACTGGCCAAATGCAATTCTTGGATCTTAGATTTCGCTGATAGTCTAGTTTTCTGTCTCCCACACTTTTCCTGCTTCTGTTGTGCTTCTTTTCCAGACCTGTCTAGTTCCCAACTCATCTGTCTCCCTTTCTCACGGTCAGCTTTATCCTGCCCTCTCCCTTCCCTACATACCTCCACCTTTTGTTCTGAGTCCAGTAAGTCCCTAAAGGAGATTATAACTCTTTAAGAATTGCCTCCTTTTTCAGTGTAGAGGTGGAACTAAACCCCAGAGTCCCAACTCCCAATCCCTTCTTTTACAATAATTTCACCCAACTTGATTTGCTTTCCCCCAGATCCCACGGCCTTGTACCCTTTTCCTCCCAGCGAGTTCCAATTAAAGGTGCAGCCACATTACAAATGACAATAAAGGAATCACCTTTGTCTTTCTACAAAGGTTGGAGCCACAGATCCGGTATGGTTGTGGGGTTTGTTGTTGGTAGTTGGGTTATAGTTTGGATTTTTTAGCAGCAGAGGGAGGGACATAGACAGTTGTCTACAGGGCCCAGAAGATAACCCCCTATTAGTAAACTGGCCCCTTCTCCCTCTGCAGGTCTCATGGGCATGGAAGAAGACCCCACCACCATCCCACACTCTGAGCTCCTCGTTGCCCCTAGCCACATAGCCCCCAATAATTCCCACCCTGAGGTGAGACAAATGCTGAATACCAGAGGAATCAAGCCACTCAGAATATGCTTATAGGGACAAAGTCTCCCACATCCCGTCCCCTGGATCCCCCTACAGCCCCCTGCTGTCCATCGCGGCCTCAACCCCTGCAGATGGCAGCCTGCACCACAAAAAGGCAACTTAGAGGTGTTTTTTTTTTTTTTCCTTCCAGTTCTTGGTTGTAATTGGATTCAGGCTAAAACAACCACGTCCCCAACCAGGAAAGGAGGGCACTGGGGCGGGGACGGAGGAGAGGCTGTGGGAGAAGGGAGGGACCAGAGGAGAGAGCGAGAGAGGGAACCAGACCCCAGTTCGCCGACTAAGCAGAAGAAAGATCAAAAACCGGAAAAGAGGAGAAGAGCAAACAGGCACTTTGAGGAACAATCCCCTTTAACTCCAAGCCGACAGCGGTCTAGGAATTCAAGTTCAGTGCCTACCGAAGACAAAGGCGCCCCGAGGGAGTGGCGGTGCGACCCCAGGGCGTGGGCCCGGCCGCGGAGCCCACACTGCCCGGCTGACCCGGTGGTCTCGGACCATGTCTCCCGCCCCAAGACCCCCCCGTTGTCTCCTGCTCCCCCTGCTCAGGCTCGGCACCGCGCTCGCCTCCCTCGGCTCGGCCCAAAGCAGCAGCTTCAGCCCCGAAGTAAGTGAGCTTCCCGGCCCTTCCCGGAGTCGCGCCCGCCGGGAGGCGAGCCCGGGGGTCTCCTAGGGGACAGCCTCTATTCGGAGAGGAGGGCTTTTGGGATCTCCGCTGCTCAGGCCTGCAGGATTCCCCCTCCCTTTCTTTTTCCTCTTCGTCTCCAAACTTCCAGATCGATCCAACTTTTGCCCGCTTCCAACCAGCTGCCCCCACCCCCTGCGCCGCCGACTCTCCTTCCCATTCCTTCTTTTTTCCCAGTCCTTGGAAGAACTTTACAACTGGGGCGAACTCCCCCTTCCCCGATTCCCTTGGGCTCTGCTCTCAGCTCTGGAACCGCCTGATAAACATTTGGACTCCGCTCAAACCCCGCGCTGTCCCGGCTCCTCGTCATGCGCGAGAGTTTGTTGTTTCTTCGACTTCCCAGCTCTCCAGCGCTCTCCCGCCGGCGCGCCCTCCGATGGGCGCTTCGGCCTCCCCGGGTGGCCCAGGCCTTCAGCGGACGAGTCTGCGGCCAGGTGGGGGTCGAGGGTGGACGGCCGAGCGTCCAGGGCCACAGCCCCCGTCTCCCCGAGAGGACCCCGCTGTGTCCCTACCCGCATCCCTGGCGTCGAGGGTCGCAGCGCCGGCGCGCTGGCCGCGTTTCCGTACACACAAAGCTCTCCTTGTGAGCCGGGCGATCGGCCGGGTCGCTGCCTCCCCCTATCCCCACCCGCGTCGGCGCCTTCAGGCCCTTTTTGTTGTTAATAGTTTTTCTGTGTTAATTGCAGGGAGCCTGGGGGCGTCGCTTGGGGAATGGGGAGAGGGTCTGGTCCGGGGTGCCCTCACGTCGGGGCTGGCTCGGGCGCCCCCCACCCTCACCCCGGCCCAGACGGTGGCCCACCGGGCCCCAGAGGAAGCTGCGTGGGAGTTGTCTGAGGAGGTTTTTCCTCTCTCTCTCTTATTTTGGGGTGAAGGTGGGAGACGGATTTAATGAGCTTCTTATTTTGGGCCATCTCAACCCACTCAGCCTGGCAAGGGCCTGGGTGCGGTTGGGAGGGGCCAGGAAGGGCCCTAGAAGGGGGATGGGATATGGGTTTGGCTTCTCCTCCTTGGTCCCACCCCGGAGAAAACTCTTTGGAAAGAATACTGTCTTCTCTCTGCGTCCCTGAAAGGGTCTGGGGCCGACTGGAAAAGTATGGCCCCAGGAATCGGGGTGGAAGACGAAACGTGGAGTGCTCAGAGACCAGGGAGAGTAAAAACCTGCCCTGGTGCTGGAGGCTGAGCCTGACTGTCCGGGAGGAGTCGTCCTCTTCCCAGGCCTAGAGTCCTCTGAGACCTGAAAGGGAGCGCCCCTAACAAAACGAGCCTGAGCATCTGGGGAGCTGCCGACCGCCAACTTCACTGCCTTACCTTTTTTCCCTCCCCTGCTTTGCTGGGTCCCCCAGGGGAGGGGCGGCTGCCCTGGCTCCGTTTTAATTGGGTCATGGGCGGTCCCAGTGCCAGAACCACCATTTGCTTCTGGGCCCAGGAAGGGAGGGAGGAGCAGCCCCAGAGGCTAGGATCCAGGGCCTACTGCAGAGCTGGAGGTCCCCCCACCCTCCCCTGGACCCCTAAGCCAAGGTGGGAGGTGTTCCGTTGACTTTCTCCTAGGGGATACCTTGCATCTCTCTCATTCGCAAAGACAAAGCCAGCCGACTGGGTTCTTTGACCCAACATAGTTGCTTTTTTCTCCAGGCCAATGTGGAGGGAAAGCTGGGGTGGTGCAGGCCTCATGCAGCTGGGTCCCTCCTACCAGGCCTCCAGAGTCCTGCACCAGCTCCAGGACAGCCCTCTCCTCCCCATGGCCTGTCTGGCGCTGGGCCCTTCCTCCCACCCAGCCGCAGACACAAGAGTCCTCTCTTCTGTGGTTTCGACCTCATAGTCTCTGTGAGGAGAGAAACTTGCCTAGGCCTGGGGGGAGGAGAGGGATGGGGGCACTTCCTTTCCAGGCCTTGCGGCTCTCTTGACTCCAGG
|
Task1_train_19476
|
The gene CIROP (ciliated left-right organizer metallopeptidase) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Heterotaxy, visceral, 12, autosomal
|
CGAGGCCACAGTGAGCTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCTGGGTTGTGTGGTAAAGTTGGCTCCTCCATGATACACTTCTAGGGGTTTTTTCTGGAGAGTCAGAGTCAGGGCCTTGTGCAGTGTAGCAACTGAAGGCCCTTGGCAGCCAGGGGACTTCCACATATGCACAGTAAACACCAAGCTAGTGGTAATTGATGGGCCATGGAAATAGCACCTAAATGGACATTTGAATCTTTTAATAGAGATATAGTTCCTGGCAGAGTATATCTCATGAAACAGATGCAGGCTTAAGAGTGGGATGAACAAGTCTTCAGAGGAGAGTCATAAAGTAAAGGACTTAGGGATTCTCCTTGGCCCATTGTATAAATACTCAAGCTTTTACCTGCCAGTGCCGCCTTTGCTCGCCAAAGCCTCCAGTACTGCTTCAGCTAGCCCTTCTTGCTGTTCCTTCCCCAGAGAGTGTCCTGGAGGCCCAGCTAATTCTAAAGAGAGCTGGAATAGTGGATCTGGGGTTGAAAGACTCACAGGTGGGGAAGTAACAGCATTGATATCTTCATTAGTCTGACACAGCCGACCCCGGGGACAGAAGAGAAGACCATAGTACCCAGGTATCTGCAAGGAAATAGGTAGCAGGATATGGTTTTGCCTTACCTGTTCAAGTCTTCCTTCTAAGGAAAATGTATATTCTAGATCAGAGTCATGGACTCAGTGGGTACTTAGGAAAACTGTATGCACATCAAAACAGGTTGGACAGTACCACCATACAAGTATTTCCCGACTTCTTTTTGCCAGTATGCTGCAACTACTACTCTTATGGTACCCACCTGTATAACCTTTCCAGGAAGGCATGGGACCCAAGGCGAGCCCTCCACCTGCACCTTGTAAGCTCCCCTCCCTGTGCATTGATGTAAGTAGCAGCGGCCCATGAGCTCTGCTTCCTTGAGGTGTGGGGTAAGAGAAGGATGCCTGGGCTTATCCCCAGGGAGCAGCTGTGAAGTGAGGTTGGCAAAGAAGCAACGGCTCTGGGGATGGTAGATCTCCCCATGGGGATTATCCACCCCAGCAGGGAATCCGTTTTCCTTCTTCCAGCATTCACTCTGAAGGGCAGGTCAGAAGTAGAATAGTGTTTGTTCTGATGCCTTTGAAGTTGACTGCCTTCCAGACCCACTCAGTTTCATTGTCTGCTCTCTTATCTACTCACCCCATTGGCTAAGGGCTTGTACATGCGGCAGCCTTCCAGCATGGGGTCTGAGGAGCAGCTTCCCTTGTCCAGGTGCAGGTAGTGGCAGCCCAGCCCACTGTGTGGAATGGATGGTAGAGTGACACTAGAATCACTGGCAGCCATACAGTCCCCTAACCACTCAGCACACACACCTGCCAGTACAGAAGAAGTCTGAGGAGCCAGTCCCACATGTGGTCACCAAGCCAAATTCTGGGCCAGATCCTGCTTGACAGATGAGAAGGAAAGAGAGCCCTCAGCAAATGAAGCCCAAACATCCTTCAGCACCAGCTATCCTCACAGCTTCGATTATACATCAGCAACAGACACCCCTCCAGCCTCCCACTTCCCCCAGAGCTGACTTGGGTCATGAGTGCCTCTCTGCAGGTCTCCCTTATTCCTCACCCTGGCCCCACAACAGCTCCTCTGCAGCGCTGTGGTTGACCTGGTACCAGCCTGAGTCTTTGAAGGCAGCGAGGGTGATTGGGTCGAGTCGAGTGCGCTGGGCTCCATCAAAGGTAGCAGTCATTAAAGAACCCTGGAGTAGTCTGGCCTCCCAGTGCGAGGACAGAAGGCCCTCCTGGAGGAGGTGGCAGATGGCTGGTTGTTAGCTGGCTACTCCTTTCTTCCATCACCCCAAGGTGTTCTCATTCTCACCTCTTCTTCCAAGGGAACACCCAGGGAAGCCCCCGACACTCCCAAGTGTTTGGCCAGGCTGAGGCTAACAGCTGGGGTGGTGAGAAGCAGTTGTCCCCACTCATCTTGCCTTGTCACTAGTTGCCTTGTAGAACAGTTCTCTCTAACTGCAGAAAGGGAAGAAGGCAGTACGAGGAGAGGAAAACTTAGGAAGGGTGAAGTAAAATTAGAAGGAAGGACGTTATGAGATAGTGAATTTCCTCTGGTTGATGGTGGAAAGTCCTTAACCTCATTCCTCTCATTTACCACTGAATCCTGAGGGGCAGTCTCGCCATTTCTTGAAGAGCTGTCCAGAGAAACCCAAGGCATGGAGCAATTCATGTAATGTGGCCTAAGGACAAATGACAGCCCAGTAAGGGGGCCGAATTTGCAGCAGGATTGACCAAACACTCTATAACCCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTC
|
CGAGGCCACAGTGAGCTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCTGGGTTGTGTGGTAAAGTTGGCTCCTCCATGATACACTTCTAGGGGTTTTTTCTGGAGAGTCAGAGTCAGGGCCTTGTGCAGTGTAGCAACTGAAGGCCCTTGGCAGCCAGGGGACTTCCACATATGCACAGTAAACACCAAGCTAGTGGTAATTGATGGGCCATGGAAATAGCACCTAAATGGACATTTGAATCTTTTAATAGAGATATAGTTCCTGGCAGAGTATATCTCATGAAACAGATGCAGGCTTAAGAGTGGGATGAACAAGTCTTCAGAGGAGAGTCATAAAGTAAAGGACTTAGGGATTCTCCTTGGCCCATTGTATAAATACTCAAGCTTTTACCTGCCAGTGCCGCCTTTGCTCGCCAAAGCCTCCAGTACTGCTTCAGCTAGCCCTTCTTGCTGTTCCTTCCCCAGAGAGTGTCCTGGAGGCCCAGCTAATTCTAAAGAGAGCTGGAATAGTGGATCTGGGGTTGAAAGACTCACAGGTGGGGAAGTAACAGCATTGATATCTTCATTAGTCTGACACAGCCGACCCCGGGGACAGAAGAGAAGACCATAGTACCCAGGTATCTGCAAGGAAATAGGTAGCAGGATATGGTTTTGCCTTACCTGTTCAAGTCTTCCTTCTAAGGAAAATGTATATTCTAGATCAGAGTCATGGACTCAGTGGGTACTTAGGAAAACTGTATGCACATCAAAACAGGTTGGACAGTACCACCATACAAGTATTTCCCGACTTCTTTTTGCCAGTATGCTGCAACTACTACTCTTATGGTACCCACCTGTATAACCTTTCCAGGAAGGCATGGGACCCAAGGCGAGCCCTCCACCTGCACCTTGTAAGCTCCCCTCCCTGTGCATTGATGTAAGTAGCAGCGGCCCATGAGCTCTGCTTCCTTGAGGTGTGGGGTAAGAGAAGGATGCCTGGGCTTATCCCCAGGGAGCAGCTGTGAAGTGAGGTTGGCAAAGAAGCAACGGCTCTGGGGATGGTAGATCTCCCCATGGGGATTATCCACCCCAGCAGGGAATCCGTTTTCCTTCTTCCAGCATTCACTCTGAAGGGCAGGTCAGAAGTAGAATAGTGTTTGTTCTGATGCCTTTGAAGTTGACTGCCTTCCAGACCCACTCAGTTTCATTGTCTGCTCTCTTATCTACTCACCCCATTGGCTAAGGGCTTGTACATGCGGCAGCCTTCCAGCATGGGGTCTGAGGAGCAGCTTCCCTTGTCCAGGTGCAGGTAGTGGCAGCCCAGCCCACTGTGTGGAATGGATGGTAGAGTGACACTAGAATCACTGGCAGCCATACAGTCCCCTAACCACTCAGCACACACACCTGCCAGTACAGAAGAAGTCTGAGGAGCCAGTCCCACATGTGGTCACCAAGCCAAATTCTGGGCCAGATCCTGCTTGACAGATGAGAAGGAAAGAGAGCCCTCAGCAAATGAAGCCCAAACATCCTTCAGCACCAGCTATCCTCACAGCTTCGATTATACATCAGCAACAGACACCCCTCCAGCCTCCCACTTCCCCCAGAGCTGACTTGGGTCATGAGTGCCTCTCTGCAGGTCTCCCTTATTCCTCACCCTGGCCCCACAACAGCTCCTCTGCAGCGCTGTGGTTGACCTGGTACCAGCCTGAGTCTTTGAAGGCAGCGAGGGTGATTGGGTCGAGTCGAGTGCGCTGGGCTCCATCAAAGGTAGCAGTCATTAAAGAACCCTGGAGTAGTATGGCCTCCCAGTGCGAGGACAGAAGGCCCTCCTGGAGGAGGTGGCAGATGGCTGGTTGTTAGCTGGCTACTCCTTTCTTCCATCACCCCAAGGTGTTCTCATTCTCACCTCTTCTTCCAAGGGAACACCCAGGGAAGCCCCCGACACTCCCAAGTGTTTGGCCAGGCTGAGGCTAACAGCTGGGGTGGTGAGAAGCAGTTGTCCCCACTCATCTTGCCTTGTCACTAGTTGCCTTGTAGAACAGTTCTCTCTAACTGCAGAAAGGGAAGAAGGCAGTACGAGGAGAGGAAAACTTAGGAAGGGTGAAGTAAAATTAGAAGGAAGGACGTTATGAGATAGTGAATTTCCTCTGGTTGATGGTGGAAAGTCCTTAACCTCATTCCTCTCATTTACCACTGAATCCTGAGGGGCAGTCTCGCCATTTCTTGAAGAGCTGTCCAGAGAAACCCAAGGCATGGAGCAATTCATGTAATGTGGCCTAAGGACAAATGACAGCCCAGTAAGGGGGCCGAATTTGCAGCAGGATTGACCAAACACTCTATAACCCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTC
|
Task1_train_19477
|
A genomic change on Chromosome 14 affects CIROP (ciliated left-right organizer metallopeptidase). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Heterotaxy, visceral, 12, autosomal
|
CTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCTGGGTTGTGTGGTAAAGTTGGCTCCTCCATGATACACTTCTAGGGGTTTTTTCTGGAGAGTCAGAGTCAGGGCCTTGTGCAGTGTAGCAACTGAAGGCCCTTGGCAGCCAGGGGACTTCCACATATGCACAGTAAACACCAAGCTAGTGGTAATTGATGGGCCATGGAAATAGCACCTAAATGGACATTTGAATCTTTTAATAGAGATATAGTTCCTGGCAGAGTATATCTCATGAAACAGATGCAGGCTTAAGAGTGGGATGAACAAGTCTTCAGAGGAGAGTCATAAAGTAAAGGACTTAGGGATTCTCCTTGGCCCATTGTATAAATACTCAAGCTTTTACCTGCCAGTGCCGCCTTTGCTCGCCAAAGCCTCCAGTACTGCTTCAGCTAGCCCTTCTTGCTGTTCCTTCCCCAGAGAGTGTCCTGGAGGCCCAGCTAATTCTAAAGAGAGCTGGAATAGTGGATCTGGGGTTGAAAGACTCACAGGTGGGGAAGTAACAGCATTGATATCTTCATTAGTCTGACACAGCCGACCCCGGGGACAGAAGAGAAGACCATAGTACCCAGGTATCTGCAAGGAAATAGGTAGCAGGATATGGTTTTGCCTTACCTGTTCAAGTCTTCCTTCTAAGGAAAATGTATATTCTAGATCAGAGTCATGGACTCAGTGGGTACTTAGGAAAACTGTATGCACATCAAAACAGGTTGGACAGTACCACCATACAAGTATTTCCCGACTTCTTTTTGCCAGTATGCTGCAACTACTACTCTTATGGTACCCACCTGTATAACCTTTCCAGGAAGGCATGGGACCCAAGGCGAGCCCTCCACCTGCACCTTGTAAGCTCCCCTCCCTGTGCATTGATGTAAGTAGCAGCGGCCCATGAGCTCTGCTTCCTTGAGGTGTGGGGTAAGAGAAGGATGCCTGGGCTTATCCCCAGGGAGCAGCTGTGAAGTGAGGTTGGCAAAGAAGCAACGGCTCTGGGGATGGTAGATCTCCCCATGGGGATTATCCACCCCAGCAGGGAATCCGTTTTCCTTCTTCCAGCATTCACTCTGAAGGGCAGGTCAGAAGTAGAATAGTGTTTGTTCTGATGCCTTTGAAGTTGACTGCCTTCCAGACCCACTCAGTTTCATTGTCTGCTCTCTTATCTACTCACCCCATTGGCTAAGGGCTTGTACATGCGGCAGCCTTCCAGCATGGGGTCTGAGGAGCAGCTTCCCTTGTCCAGGTGCAGGTAGTGGCAGCCCAGCCCACTGTGTGGAATGGATGGTAGAGTGACACTAGAATCACTGGCAGCCATACAGTCCCCTAACCACTCAGCACACACACCTGCCAGTACAGAAGAAGTCTGAGGAGCCAGTCCCACATGTGGTCACCAAGCCAAATTCTGGGCCAGATCCTGCTTGACAGATGAGAAGGAAAGAGAGCCCTCAGCAAATGAAGCCCAAACATCCTTCAGCACCAGCTATCCTCACAGCTTCGATTATACATCAGCAACAGACACCCCTCCAGCCTCCCACTTCCCCCAGAGCTGACTTGGGTCATGAGTGCCTCTCTGCAGGTCTCCCTTATTCCTCACCCTGGCCCCACAACAGCTCCTCTGCAGCGCTGTGGTTGACCTGGTACCAGCCTGAGTCTTTGAAGGCAGCGAGGGTGATTGGGTCGAGTCGAGTGCGCTGGGCTCCATCAAAGGTAGCAGTCATTAAAGAACCCTGGAGTAGTCTGGCCTCCCAGTGCGAGGACAGAAGGCCCTCCTGGAGGAGGTGGCAGATGGCTGGTTGTTAGCTGGCTACTCCTTTCTTCCATCACCCCAAGGTGTTCTCATTCTCACCTCTTCTTCCAAGGGAACACCCAGGGAAGCCCCCGACACTCCCAAGTGTTTGGCCAGGCTGAGGCTAACAGCTGGGGTGGTGAGAAGCAGTTGTCCCCACTCATCTTGCCTTGTCACTAGTTGCCTTGTAGAACAGTTCTCTCTAACTGCAGAAAGGGAAGAAGGCAGTACGAGGAGAGGAAAACTTAGGAAGGGTGAAGTAAAATTAGAAGGAAGGACGTTATGAGATAGTGAATTTCCTCTGGTTGATGGTGGAAAGTCCTTAACCTCATTCCTCTCATTTACCACTGAATCCTGAGGGGCAGTCTCGCCATTTCTTGAAGAGCTGTCCAGAGAAACCCAAGGCATGGAGCAATTCATGTAATGTGGCCTAAGGACAAATGACAGCCCAGTAAGGGGGCCGAATTTGCAGCAGGATTGACCAAACACTCTATAACCCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTCAAGAGGCTGCACCTA
|
CTGAGATCACCCCACTGCATTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAAAAAGAAGAAGAAAAAGGTGGGGGGAGGGGACTAAGATCCCTATGTCCTAGAGATGGGGGAATGTGTTATTGTATGGGAGGAGGGAGTCAGGTAGTGACGGGACTGGATGATCGTGTTAGGGATCTTTGTTCTCTGAAACGCAACCCTGTCTAGGACAATATACACGTGAGTGAGTGCTTAATAAATTTAATTTCAAACATCCGGACTCCATGGATTTGAAAGGAAAGTACTTGGAATATCTTACTTGCTGGGTTGTGTGGTAAAGTTGGCTCCTCCATGATACACTTCTAGGGGTTTTTTCTGGAGAGTCAGAGTCAGGGCCTTGTGCAGTGTAGCAACTGAAGGCCCTTGGCAGCCAGGGGACTTCCACATATGCACAGTAAACACCAAGCTAGTGGTAATTGATGGGCCATGGAAATAGCACCTAAATGGACATTTGAATCTTTTAATAGAGATATAGTTCCTGGCAGAGTATATCTCATGAAACAGATGCAGGCTTAAGAGTGGGATGAACAAGTCTTCAGAGGAGAGTCATAAAGTAAAGGACTTAGGGATTCTCCTTGGCCCATTGTATAAATACTCAAGCTTTTACCTGCCAGTGCCGCCTTTGCTCGCCAAAGCCTCCAGTACTGCTTCAGCTAGCCCTTCTTGCTGTTCCTTCCCCAGAGAGTGTCCTGGAGGCCCAGCTAATTCTAAAGAGAGCTGGAATAGTGGATCTGGGGTTGAAAGACTCACAGGTGGGGAAGTAACAGCATTGATATCTTCATTAGTCTGACACAGCCGACCCCGGGGACAGAAGAGAAGACCATAGTACCCAGGTATCTGCAAGGAAATAGGTAGCAGGATATGGTTTTGCCTTACCTGTTCAAGTCTTCCTTCTAAGGAAAATGTATATTCTAGATCAGAGTCATGGACTCAGTGGGTACTTAGGAAAACTGTATGCACATCAAAACAGGTTGGACAGTACCACCATACAAGTATTTCCCGACTTCTTTTTGCCAGTATGCTGCAACTACTACTCTTATGGTACCCACCTGTATAACCTTTCCAGGAAGGCATGGGACCCAAGGCGAGCCCTCCACCTGCACCTTGTAAGCTCCCCTCCCTGTGCATTGATGTAAGTAGCAGCGGCCCATGAGCTCTGCTTCCTTGAGGTGTGGGGTAAGAGAAGGATGCCTGGGCTTATCCCCAGGGAGCAGCTGTGAAGTGAGGTTGGCAAAGAAGCAACGGCTCTGGGGATGGTAGATCTCCCCATGGGGATTATCCACCCCAGCAGGGAATCCGTTTTCCTTCTTCCAGCATTCACTCTGAAGGGCAGGTCAGAAGTAGAATAGTGTTTGTTCTGATGCCTTTGAAGTTGACTGCCTTCCAGACCCACTCAGTTTCATTGTCTGCTCTCTTATCTACTCACCCCATTGGCTAAGGGCTTGTACATGCGGCAGCCTTCCAGCATGGGGTCTGAGGAGCAGCTTCCCTTGTCCAGGTGCAGGTAGTGGCAGCCCAGCCCACTGTGTGGAATGGATGGTAGAGTGACACTAGAATCACTGGCAGCCATACAGTCCCCTAACCACTCAGCACACACACCTGCCAGTACAGAAGAAGTCTGAGGAGCCAGTCCCACATGTGGTCACCAAGCCAAATTCTGGGCCAGATCCTGCTTGACAGATGAGAAGGAAAGAGAGCCCTCAGCAAATGAAGCCCAAACATCCTTCAGCACCAGCTATCCTCACAGCTTCGATTATACATCAGCAACAGACACCCCTCCAGCCTCCCACTTCCCCCAGAGCTGACTTGGGTCATGAGTGCCTCTCTGCAGGTCTCCCTTATTCCTCACCCTGGCCCCACAACAGCTCCTCTGCAGCGCTGTGGTTGACCTGGTACCAGCCTGAGTCTTTGAAGGCAGCGAGGGTGATTGGGTCGAGTCGAGTGCGCTGGGCTCCATCAAAGGTAGCAGTCATTAAAGAACCCTGGAGTAGTCTGGCCTCCCAGTGCAAGGACAGAAGGCCCTCCTGGAGGAGGTGGCAGATGGCTGGTTGTTAGCTGGCTACTCCTTTCTTCCATCACCCCAAGGTGTTCTCATTCTCACCTCTTCTTCCAAGGGAACACCCAGGGAAGCCCCCGACACTCCCAAGTGTTTGGCCAGGCTGAGGCTAACAGCTGGGGTGGTGAGAAGCAGTTGTCCCCACTCATCTTGCCTTGTCACTAGTTGCCTTGTAGAACAGTTCTCTCTAACTGCAGAAAGGGAAGAAGGCAGTACGAGGAGAGGAAAACTTAGGAAGGGTGAAGTAAAATTAGAAGGAAGGACGTTATGAGATAGTGAATTTCCTCTGGTTGATGGTGGAAAGTCCTTAACCTCATTCCTCTCATTTACCACTGAATCCTGAGGGGCAGTCTCGCCATTTCTTGAAGAGCTGTCCAGAGAAACCCAAGGCATGGAGCAATTCATGTAATGTGGCCTAAGGACAAATGACAGCCCAGTAAGGGGGCCGAATTTGCAGCAGGATTGACCAAACACTCTATAACCCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTCAAGAGGCTGCACCTA
|
Task1_train_19478
|
Consider this mutation in CIROP (ciliated left-right organizer metallopeptidase) on Chromosome 14. Is this a benign change or a disease-causing variant?
|
Pathogenic; Heterotaxy, visceral, 12, autosomal
|
CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTCAAGAGGCTGCACCTATAAGAATGAAGATCTGTAGGTGAGCTGAGGACATTTCTAGGTATCCCTGAAAAAGAATTACATACATTGTCAACGACGTGAACTCACCTGTGGTAGTTTGGGCTATCTGGGTCTCCCCAGACAGCGTGGCAATACTGTGCAGGGTCTCGACTCAGAAGCAGGGGTCCTTGCACTGGAGGGACTTGATAAGAAGTCAGTTTCTCCCATATCTTGGAATTCCAGTTCTCTTTCTGGGCTGATCTTCCTCCCCTGGACCTCTCTGCTCCTCAACCCTCCCTGACACCTCTGTTCCCTCACTCACCTGCTAGAACAGCCTGGATTCGCTGAGTGGCCTCTCTCACTGCGGCCAGGGCTCGGGATCCCCCTCTCATCCCTTCTCCCTCAGGATCCCAAGCTCCATCTGATATATGATCTCCTAGATAGCAGCTTTGGATTCGTAGGGGTTGAGGATCACGGGAGCTAGGGAGGGTGAGGGAGGAAGAGCGAGATTTTGAGGGGAGTTGGGAGAAAGGGGGCCTGAGAAGGCTCACAGACTTCTGTGTCTCATCATGTAGACATCGGCTTGCAGCAACCCTGAGGACTAGTGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCTCCCTTCTGTGTCTCTCCGTAGATACAGCCTGGATCCTGTCTTCCGTCCCCTTGTTCCCTGGCTCACTGTTTCTGGCTTTCCTCTCTTTACTATTTTTCACCTATGCCCCCCACTACTCTTGCTTATTTTTTCAAGATTTGAATGTTGTTGACTCAGTCTACAGTTCCCTGCCAGGAGGTTGGATATGAACCACCCTCTTCCAGAGGTGCCAGAGGCAGAGTGCTGGGGGAGGGGAAGTGTTATTCTGAGGCCTCAGCTGACCTTTCCAAAGAGGAGCCTGCCTTATCCATGATGAAACTCTTTCCTTGTTTTTTGTTTGTTTGTTTTGTAGAGATGGAGCCTCTCTATGTTGTCGAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCCAAGTGCTGAGATTACAGGTGTGAGCCACTGTGTGTGGCTGGGAACTCTTTCCTAATCCTTTCCATCCCTCATCCTATTTCTTGTGCCTTTCTGAGTAGAAAACCTTGGAACCTTCACCGAACTAGAAAACTGGTGTCACCATAATAGGGGAAGTGGGGGACAGAGGTATTCTTTGCTTTGTAGTTGCCTGCTGGCCTCACTGGACATGGCCAAACAAGGCTTCTGCACTTCACTAGCCCCGGTTTCAGAACTGGGTGGCCTCTAACTAAACTACAAGACTTCTAGGATCTCCTACATCTATGTAGGGCTCTTAGTGGGTGCTCAACAAATACATGTTAGTTGACTGACACCTCCTGTAAGAGGCCGTTGTGTTAGGTCTGTTAGGTTTCACAGATGCTGCTTATAGGCATGCAGAGGAGGGAAAATAAACTTTTTTTTTTTTTTTTTTTTGTCTTTTTGAGTTTCGCTCTTCTCACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAAACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGGTGCACGCCACCACACCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTGCTGGCCAAGAAACTCTTAAAATGGACATTAATGTTCAAAGATACTCTTAAGGAACTCTGTTTTCTTTGCTCATGCTGTGCTTTCACATCCTGTTTCCCTTGCTTGGATACCCGCCCCCCCGCCCTCCCCCCGCCTCCCCCGGCCTCCCCCGGCCTGCCTGGCTAATTCCTACCTTTCTGGTAATTACCCTTGGAAGCCTTTCTTAATACCCCCAGCCCAAATTCCACACCTGGCACAGTGGGTGGGGAACCACCTCACAGGAGGGGCCTCTCCTCCCAGCTCCTAACAGAACACTGTCATCCTCTGTTATAATTGTTGGCTTAGTGGCTCTCCCTCCACATCCTGAAGTCCTTGAAGGTAAGCCTGCTTCCTGTTGGTCTTTGTGTCCACACCACTCAGCACAGCCCTTCGGGCCTGGTCTTCAGTGTGTGGATGAAGACATAGAACCTAACCCCATTATTTAACTTTTGAAGAAACAGCTGTTTTAGGTAGTATATTTTAATAGCTAATTGGTGACCGACATGGACTAGAGTTTAGAGTAGGGCTGCTGACTTCCCAAGGATTTTATACTTTCACATGCCAGAACTGTGGTTGAAACTACTGATTACAAGGGAGACACCTGTTGGGGCTCAGAAACCGTAACCCAAAATACAGCATTGACATGCTGAACTGAAGAAGAAGCCTCAAGGTCTCTCTGACCATCCTGCCTTACCCCCATACACACACACCCACACCCCTCATCTCTCCCAAAGCACAGGCCCTATCTGCCTAAGATCCAGACTCAACAAGTAAAGCAGTTTTTCCTCTTCTTCCCC
|
CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTCAAGAGGCTGCACCTATAAGAATGAAGATCTGTAGGTGAGCTGAGGACATTTCTAGGTATCCCTGAAAAAGAATTACATACATTGTCAACGACGTGAACTCACCTGTGGTAGTTTGGGCTATCTGGGTCTCCCCAGACAGCGTGGCAATACTGTGCAGGGTCTCGACTCAGAAGCAGGGGTCCTTGCACTGGAGGGACTTGATAAGAAGTCAGTTTCTCCCATATCTTGGAATTCCAGTTCTCTTTCTGGGCTGATCTTCCTCCCCTGGACCTCTCTGCTCCTCAACCCTCCCTGACACCTCTGTTCCCTCACTCACCTGCTAGAACAGCCTGGATTCGCTGAGTGGCCTCTCTCACTGCGGCCAGGGCTCGGGATCCCCCTCTCATCCCTTCTCCCTCAGGATCCCAAGCTCCATCTGATATATGATCTCCTAGATAGCAGCTTTGGATTCGTAGGGGTTGAGGATCACGGGAGCTAGGGAGGGTGAGGGAGGAAGAGCGAGATTTTGAGGGGAGTTGGGAGAAAGGGGGCCTGAGAAGGCTCACAAACTTCTGTGTCTCATCATGTAGACATCGGCTTGCAGCAACCCTGAGGACTAGTGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCTCCCTTCTGTGTCTCTCCGTAGATACAGCCTGGATCCTGTCTTCCGTCCCCTTGTTCCCTGGCTCACTGTTTCTGGCTTTCCTCTCTTTACTATTTTTCACCTATGCCCCCCACTACTCTTGCTTATTTTTTCAAGATTTGAATGTTGTTGACTCAGTCTACAGTTCCCTGCCAGGAGGTTGGATATGAACCACCCTCTTCCAGAGGTGCCAGAGGCAGAGTGCTGGGGGAGGGGAAGTGTTATTCTGAGGCCTCAGCTGACCTTTCCAAAGAGGAGCCTGCCTTATCCATGATGAAACTCTTTCCTTGTTTTTTGTTTGTTTGTTTTGTAGAGATGGAGCCTCTCTATGTTGTCGAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCCAAGTGCTGAGATTACAGGTGTGAGCCACTGTGTGTGGCTGGGAACTCTTTCCTAATCCTTTCCATCCCTCATCCTATTTCTTGTGCCTTTCTGAGTAGAAAACCTTGGAACCTTCACCGAACTAGAAAACTGGTGTCACCATAATAGGGGAAGTGGGGGACAGAGGTATTCTTTGCTTTGTAGTTGCCTGCTGGCCTCACTGGACATGGCCAAACAAGGCTTCTGCACTTCACTAGCCCCGGTTTCAGAACTGGGTGGCCTCTAACTAAACTACAAGACTTCTAGGATCTCCTACATCTATGTAGGGCTCTTAGTGGGTGCTCAACAAATACATGTTAGTTGACTGACACCTCCTGTAAGAGGCCGTTGTGTTAGGTCTGTTAGGTTTCACAGATGCTGCTTATAGGCATGCAGAGGAGGGAAAATAAACTTTTTTTTTTTTTTTTTTTTGTCTTTTTGAGTTTCGCTCTTCTCACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAAACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGGTGCACGCCACCACACCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTGCTGGCCAAGAAACTCTTAAAATGGACATTAATGTTCAAAGATACTCTTAAGGAACTCTGTTTTCTTTGCTCATGCTGTGCTTTCACATCCTGTTTCCCTTGCTTGGATACCCGCCCCCCCGCCCTCCCCCCGCCTCCCCCGGCCTCCCCCGGCCTGCCTGGCTAATTCCTACCTTTCTGGTAATTACCCTTGGAAGCCTTTCTTAATACCCCCAGCCCAAATTCCACACCTGGCACAGTGGGTGGGGAACCACCTCACAGGAGGGGCCTCTCCTCCCAGCTCCTAACAGAACACTGTCATCCTCTGTTATAATTGTTGGCTTAGTGGCTCTCCCTCCACATCCTGAAGTCCTTGAAGGTAAGCCTGCTTCCTGTTGGTCTTTGTGTCCACACCACTCAGCACAGCCCTTCGGGCCTGGTCTTCAGTGTGTGGATGAAGACATAGAACCTAACCCCATTATTTAACTTTTGAAGAAACAGCTGTTTTAGGTAGTATATTTTAATAGCTAATTGGTGACCGACATGGACTAGAGTTTAGAGTAGGGCTGCTGACTTCCCAAGGATTTTATACTTTCACATGCCAGAACTGTGGTTGAAACTACTGATTACAAGGGAGACACCTGTTGGGGCTCAGAAACCGTAACCCAAAATACAGCATTGACATGCTGAACTGAAGAAGAAGCCTCAAGGTCTCTCTGACCATCCTGCCTTACCCCCATACACACACACCCACACCCCTCATCTCTCCCAAAGCACAGGCCCTATCTGCCTAAGATCCAGACTCAACAAGTAAAGCAGTTTTTCCTCTTCTTCCCC
|
Task1_train_19479
|
Given this context: Chromosome 14, gene CIROP (ciliated left-right organizer metallopeptidase) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; CIROP-related disorder
|
CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTCAAGAGGCTGCACCTATAAGAATGAAGATCTGTAGGTGAGCTGAGGACATTTCTAGGTATCCCTGAAAAAGAATTACATACATTGTCAACGACGTGAACTCACCTGTGGTAGTTTGGGCTATCTGGGTCTCCCCAGACAGCGTGGCAATACTGTGCAGGGTCTCGACTCAGAAGCAGGGGTCCTTGCACTGGAGGGACTTGATAAGAAGTCAGTTTCTCCCATATCTTGGAATTCCAGTTCTCTTTCTGGGCTGATCTTCCTCCCCTGGACCTCTCTGCTCCTCAACCCTCCCTGACACCTCTGTTCCCTCACTCACCTGCTAGAACAGCCTGGATTCGCTGAGTGGCCTCTCTCACTGCGGCCAGGGCTCGGGATCCCCCTCTCATCCCTTCTCCCTCAGGATCCCAAGCTCCATCTGATATATGATCTCCTAGATAGCAGCTTTGGATTCGTAGGGGTTGAGGATCACGGGAGCTAGGGAGGGTGAGGGAGGAAGAGCGAGATTTTGAGGGGAGTTGGGAGAAAGGGGGCCTGAGAAGGCTCACAGACTTCTGTGTCTCATCATGTAGACATCGGCTTGCAGCAACCCTGAGGACTAGTGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCTCCCTTCTGTGTCTCTCCGTAGATACAGCCTGGATCCTGTCTTCCGTCCCCTTGTTCCCTGGCTCACTGTTTCTGGCTTTCCTCTCTTTACTATTTTTCACCTATGCCCCCCACTACTCTTGCTTATTTTTTCAAGATTTGAATGTTGTTGACTCAGTCTACAGTTCCCTGCCAGGAGGTTGGATATGAACCACCCTCTTCCAGAGGTGCCAGAGGCAGAGTGCTGGGGGAGGGGAAGTGTTATTCTGAGGCCTCAGCTGACCTTTCCAAAGAGGAGCCTGCCTTATCCATGATGAAACTCTTTCCTTGTTTTTTGTTTGTTTGTTTTGTAGAGATGGAGCCTCTCTATGTTGTCGAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCCAAGTGCTGAGATTACAGGTGTGAGCCACTGTGTGTGGCTGGGAACTCTTTCCTAATCCTTTCCATCCCTCATCCTATTTCTTGTGCCTTTCTGAGTAGAAAACCTTGGAACCTTCACCGAACTAGAAAACTGGTGTCACCATAATAGGGGAAGTGGGGGACAGAGGTATTCTTTGCTTTGTAGTTGCCTGCTGGCCTCACTGGACATGGCCAAACAAGGCTTCTGCACTTCACTAGCCCCGGTTTCAGAACTGGGTGGCCTCTAACTAAACTACAAGACTTCTAGGATCTCCTACATCTATGTAGGGCTCTTAGTGGGTGCTCAACAAATACATGTTAGTTGACTGACACCTCCTGTAAGAGGCCGTTGTGTTAGGTCTGTTAGGTTTCACAGATGCTGCTTATAGGCATGCAGAGGAGGGAAAATAAACTTTTTTTTTTTTTTTTTTTTGTCTTTTTGAGTTTCGCTCTTCTCACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAAACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGGTGCACGCCACCACACCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTGCTGGCCAAGAAACTCTTAAAATGGACATTAATGTTCAAAGATACTCTTAAGGAACTCTGTTTTCTTTGCTCATGCTGTGCTTTCACATCCTGTTTCCCTTGCTTGGATACCCGCCCCCCCGCCCTCCCCCCGCCTCCCCCGGCCTCCCCCGGCCTGCCTGGCTAATTCCTACCTTTCTGGTAATTACCCTTGGAAGCCTTTCTTAATACCCCCAGCCCAAATTCCACACCTGGCACAGTGGGTGGGGAACCACCTCACAGGAGGGGCCTCTCCTCCCAGCTCCTAACAGAACACTGTCATCCTCTGTTATAATTGTTGGCTTAGTGGCTCTCCCTCCACATCCTGAAGTCCTTGAAGGTAAGCCTGCTTCCTGTTGGTCTTTGTGTCCACACCACTCAGCACAGCCCTTCGGGCCTGGTCTTCAGTGTGTGGATGAAGACATAGAACCTAACCCCATTATTTAACTTTTGAAGAAACAGCTGTTTTAGGTAGTATATTTTAATAGCTAATTGGTGACCGACATGGACTAGAGTTTAGAGTAGGGCTGCTGACTTCCCAAGGATTTTATACTTTCACATGCCAGAACTGTGGTTGAAACTACTGATTACAAGGGAGACACCTGTTGGGGCTCAGAAACCGTAACCCAAAATACAGCATTGACATGCTGAACTGAAGAAGAAGCCTCAAGGTCTCTCTGACCATCCTGCCTTACCCCCATACACACACACCCACACCCCTCATCTCTCCCAAAGCACAGGCCCTATCTGCCTAAGATCCAGACTCAACAAGTAAAGCAGTTTTTCCTCTTCTTCCCC
|
CCCTCTGCCCAATCAGCTCTTCCTAGAGTTTGAGGCACCTTCTATTCCATCCTCTGTGGGTTCTTTGACTTAATGGGAAACTGAGTAACCTGGCCCCCTACCCTGCAACCTGTTTGCTTCTCCCTATTCATCATGCAGCAGTCACCATGACGATGTCACTGTGGCTGAGGCTGGGGCTGGTGAGATGTTGGGCACAGTAGACAATGGTACCAGCGAGGGGCCTGTCTTCTGAGTCCAGCTGGCAGCAGGCAGCATAGGCTATGACAGAGGGCTGTGGATGGGCCAGGACAGGGTAGGGCCAGAAAGGAGAAAAATAGGGTAGCACAAGTAGAAGAAGTCCTCTGAAAATGGAGGACCAGGGGACTCTGCAGAACTCTGCAGGAGTGGTATCAAGGGATGGCTGTGGGTGGGGGTAGCCTTTACCCAAACGTTACTAGCATTCCCTAAGTTATCCCAAATAAGCACAACTTAATAAAAACTGCTTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCTGATACTTTGGGAAGCCAAGGTGGGCAGATTGCTTGAGCCCAAGAGTTTGAGACACAGCCTGGGCAACATGACAAAACCCCGTCTCTACAAAAAAAAATACAAAAAATTAGCCGGACATGGTGGTGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGATGGGAGGATCACCTGAGCCCAGGAGGTCAAGGCTGCGGTGAGCTGTGATTGGGCCGCTGTACTCCAGCCTGGGCAACAGAGTGAGACTGTCTGAAAACAAAAGCAAAATAAAACAAAACAAAACAAAACAAAACTGCTTTTATGCTCCCTAACCCTCCTCATGAGATTTAAGATTGAGAGAGACAGCAGGGAAAGGAAATTTGATTTGAACTTCACCTCTTGGTGGCACTTGGAAGTGTGAGCAACTCGCACATACAGGAGAAAATCAGTGTTTTGGACCCCAGGCCCATCTGGCTGGACCAGTTGTGGGGGACCCTGCTCCGGCCACAAGGCATAACCGCGAAGATGGGTGTCAGGAATCTGGCAGGGAGTGAAATGTTGCATTAGCAGAGGGGCTGGAACAGTAGGAAATTGGGTATGAGGAGTAGGGGAGAATGAATCTCTTTGGTCTGTCTTTGTGTTATCTAGGCAGCTGGCTAGAATAGAGTTCTGCCCCTTCACCCCCAGTCTCTGATTTAATAAATTTTAGCAGGGAGAGGAGCTCAAGAATCTACATCGTTAAGCACACTAAGTAACTCTGATGGTGGTGGTCTTGGAATGGTCATGGCAGGCTGCAGATCTCCAGATCCCTGAGACTGAGAGGTGAGCCTGCTCAGGATCCTGTCTTCCGTCCCCTTCTTCCCTGGTGTACTTATTTCTGGTTTTCCTCTCTTTACTATCTCTCTGCGTATCCCCCCACCACCCTTATTTTTTCAAGATTTCAGTGTTGTTGACTCAATCTCACCTTTGCCCCCAGGCAACTCTCTCCTTTGTATCCTGGGTTCAAGAGGCTGCACCTATAAGAATGAAGATCTGTAGGTGAGCTGAGGACATTTCTAGGTATCCCTGAAAAAGAATTACATACATTGTCAACGACGTGAACTCACCTGTGGTAGTTTGGGCTATCTGGGTCTCCCCAGACAGCGTGGCAATACTGTGCAGGGTCTCGACTCAGAAGCAGGGGTCCTTGCACTGGAGGGACTTGATAAGAAGTCAGTTTCTCCCATATCTTGGAATTCCAGTTCTCTTTCTGGGCTGATCTTCCTCCCCTGGACCTCTCTGCTCCTCAACCCTCCCTGACACCTCTGTTCCCTCACTCACCTGCTAGAACAGCCTGGATTCGCTGAGTGGCCTCTCTCACTGCGGCCAGGGCTCGGGATCCCCCTCTCATCCCTTCTCCCTCAGGATCCCAAGCTCCATCTGATATATGATCTCCTAGATAGCAGCTTTGGATTCGTAGGGGTTGAGGATCACGGGAGCTAGGGAGGGTGAGGGAGGAAGAGCGAGATTTTGAGGGGAGTTGGGAGAAAGGGGGCCTGAGAAGGCTCACAAACTTCTGTGTCTCATCATGTAGACATCGGCTTGCAGCAACCCTGAGGACTAGTGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATCTCCCTTCTGTGTCTCTCCGTAGATACAGCCTGGATCCTGTCTTCCGTCCCCTTGTTCCCTGGCTCACTGTTTCTGGCTTTCCTCTCTTTACTATTTTTCACCTATGCCCCCCACTACTCTTGCTTATTTTTTCAAGATTTGAATGTTGTTGACTCAGTCTACAGTTCCCTGCCAGGAGGTTGGATATGAACCACCCTCTTCCAGAGGTGCCAGAGGCAGAGTGCTGGGGGAGGGGAAGTGTTATTCTGAGGCCTCAGCTGACCTTTCCAAAGAGGAGCCTGCCTTATCCATGATGAAACTCTTTCCTTGTTTTTTGTTTGTTTGTTTTGTAGAGATGGAGCCTCTCTATGTTGTCGAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCCAAGTGCTGAGATTACAGGTGTGAGCCACTGTGTGTGGCTGGGAACTCTTTCCTAATCCTTTCCATCCCTCATCCTATTTCTTGTGCCTTTCTGAGTAGAAAACCTTGGAACCTTCACCGAACTAGAAAACTGGTGTCACCATAATAGGGGAAGTGGGGGACAGAGGTATTCTTTGCTTTGTAGTTGCCTGCTGGCCTCACTGGACATGGCCAAACAAGGCTTCTGCACTTCACTAGCCCCGGTTTCAGAACTGGGTGGCCTCTAACTAAACTACAAGACTTCTAGGATCTCCTACATCTATGTAGGGCTCTTAGTGGGTGCTCAACAAATACATGTTAGTTGACTGACACCTCCTGTAAGAGGCCGTTGTGTTAGGTCTGTTAGGTTTCACAGATGCTGCTTATAGGCATGCAGAGGAGGGAAAATAAACTTTTTTTTTTTTTTTTTTTTGTCTTTTTGAGTTTCGCTCTTCTCACCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAAACTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAAAGTAGCTGGGATTACAGGTGCACGCCACCACACCCAGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCTTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTGCTGGCCAAGAAACTCTTAAAATGGACATTAATGTTCAAAGATACTCTTAAGGAACTCTGTTTTCTTTGCTCATGCTGTGCTTTCACATCCTGTTTCCCTTGCTTGGATACCCGCCCCCCCGCCCTCCCCCCGCCTCCCCCGGCCTCCCCCGGCCTGCCTGGCTAATTCCTACCTTTCTGGTAATTACCCTTGGAAGCCTTTCTTAATACCCCCAGCCCAAATTCCACACCTGGCACAGTGGGTGGGGAACCACCTCACAGGAGGGGCCTCTCCTCCCAGCTCCTAACAGAACACTGTCATCCTCTGTTATAATTGTTGGCTTAGTGGCTCTCCCTCCACATCCTGAAGTCCTTGAAGGTAAGCCTGCTTCCTGTTGGTCTTTGTGTCCACACCACTCAGCACAGCCCTTCGGGCCTGGTCTTCAGTGTGTGGATGAAGACATAGAACCTAACCCCATTATTTAACTTTTGAAGAAACAGCTGTTTTAGGTAGTATATTTTAATAGCTAATTGGTGACCGACATGGACTAGAGTTTAGAGTAGGGCTGCTGACTTCCCAAGGATTTTATACTTTCACATGCCAGAACTGTGGTTGAAACTACTGATTACAAGGGAGACACCTGTTGGGGCTCAGAAACCGTAACCCAAAATACAGCATTGACATGCTGAACTGAAGAAGAAGCCTCAAGGTCTCTCTGACCATCCTGCCTTACCCCCATACACACACACCCACACCCCTCATCTCTCCCAAAGCACAGGCCCTATCTGCCTAAGATCCAGACTCAACAAGTAAAGCAGTTTTTCCTCTTCTTCCCC
|
Task1_train_19480
|
Consider a variant on Chromosome 14 in gene CEBPE (CCAAT enhancer binding protein epsilon). Determine its clinical classification and disease relevance.
|
Pathogenic; Pelger-Huet-like anomaly and episodic fever with abdominal pain
|
CTCTCCCTCCAAACCAGACCTGGGGCACGGGCCTCCAGGACACAGAGGTGCCCGAGAGACACAGAGGCAAAGGCAGGAAAAGGACTGAGTCCTGGGCAAGGTAGACATGCCGCACACGGATGCCCGAGGTGTGGGAGGGCTCTACCGCTGGAGATTTGAAGAAGGGAGAGAGATCTGGGATGATCCAGACACCAGTCTCTCACCTTCTCAGAAAATTATTCCTTGATGTCTGACTCAGCCTTTCACAGCATTGGCTTAGGAGAGACTTTAAGAAGCCCGTAATCTGTCCCTGGGTCCCTGACACTGTTGGGCACTGTTCTTTATTGAATGTGATTCATGTGACACTCGTACTGAGGATCTGTGAGAAGAGTGTAGCGTGGAGTAGAGAGACAGGTACCACGTACTGAGGCAGCAAAGGGACTCAGTGAGTGTCAGGAGAAGCCTCTTACCCCTCTGGCCCTCAACTGCTTTATCTGTAAAATGTGGCTCACCCTACCTTGCTGGTCTGAGGGCAGAGCCCACCAGATGATCTCTTGAGGTCTCTCCCAGCACATCTTGAGATCTGCGATTTTACAGAGCCAATTTTGGTTCTACCTCTAAACAATCGTGTGACTCCAGGTAAGTCCCTTCCCCTCTTTGCAGCCTGTTTTCTTACCTGCAAAATGAGTTTAGATGAGATCTCTGAGGTCCTTTCAGTTCCAGCAAAATGGAGGAATCATAATAAATATGCTTATTACATGCAAAGTTTTCTTTTTCTATGAATATAACAACACTACGGAGTGGGGACAAATATTGCAACCATTTTGCAGATGAGGAAACTGAGGCACAGAAAGACATAATGGCTCAAGGCTCACAGCTAGTAAGTAGCAGTGTAAGATTCAAACTGAGGCTCTTAATTATTGTACCATTCTGTCTCTTAGGCTGTAGTCCAATGCAAAAGAAAATGCTGTTTCGAATGATGGGTTTCCCTGGCACGGGCAGATTGTCATCCTCCTTCTCACTACCAGTGTTCTCATACACAAATCCGGTCTCCAGGTCTTTCCCAACCGATTCCTGTCCCATGCACTCAATTCTCAAGCTTTAGGGAACTGGAGCCTCAGGGATGAGGGACAAAGGATGGAAATGAATGGGTGGGAGCAGCGTGGGGAGGGTGTCCATCTGGTAGACTGAGGCTTTGGAAATGGAGAGAAGAGATGGCGGGCTGGATCAAGGGACCATAAATATGGCAGAGCCATCAGGAATTTTCCCATGGTCACCTGGGGCAGGAGCTCCCAGACCTATACCTCAAGGTGAGAGAGAGTGGGCCTGGGATCAGCAGGCCTGGGCATGAAGGACTGTGTGGTGCCGGGATCTCCCTACAAGCTGAAGATCTTTGTTAGCAGAGCATACAAAGGTGCTCCAGGTCCTGTGGGGGGCGGGGATGTGCCTTCAGCTCACAGAAGGGGGTGATGGGGGATGTCAGGGAGAGAAGAGCAGAGTGACAGATACACGGCCTGGCTGTGTGGTATATTGGGGGTGGGCTGTGGACAGCATGTCTGTGTTTCCACATGTCCACTTGGTCATGGAAACAAGAGGTGCAGACCTAGCCACATGCATCCTCTGTCCCCAGGGTCCTCCATGACACACACACACACACACACACACACACACACACACACACAGCCAACAGTCCCAACACCCAGTCACAGTGCAACTTTATTCAGCCATATAATCATTATGCTGGGTCCTGCCCTCTTTGCCACCCCGGTTGCCATTTATCCATGGTCTATGTCTCAGGGTTCTAGGCCCCCAGCAGGATGGGGGTCCGCAGAGTTAGGCCGTGCCAGGGAGCCTGGTGCCCACAATCCACCAGCCAGCCTCAGCTGCAACCCCCCACGCCCTTGATGAGGTTGGCCGCCTCAGGAATCTGGCGGAAGAGGTTGCGGAGGGTGTCTAGCTCCTGGGTGAGCTGCTCCACGCGGCTGCGGAGGCGCTCGTTCTCTGCCATGTACTCCAGCACCTTCTGCTGCGTCTCCAGAATGCGCCTCTTGGCCTTGTCTCGGCTCTTGCGCACGGCGATGTTGTTGCGCTCCCGCCTCAGCCGGTACTCAAGGCTATCTTTGTTCACTGCCTTCTTGCCCTTGTGTAAGGGGCCAGCCGGGGAGGGCGCCTTCAGGAGGGGACTGCAGGGGGGTGCGGCAGTGGCCAAAGGGGCCTGGAGGGGAAGGCACGGAGAGACGGAGAGGTGAGGGCTGGCCAGGAGGCAGAGCGGAGGCGGGGCGGGAATCTCGGCAGCCAGGGCACACTTGATGCGTCAAAGGAATACAGGACTCAGAGCCAGCTCCTGTCTCTCAGGTCAAAACTATCATCGCTCTGCTTCTGGGAGATGGTGACCCAGATGCACAGGGTCCTCTGCTTGAGACCAAAACTCCCTTTCATGTTCTCACACTTTCTTTCTTTCTTTTTTTGTAAAGATGGAGCCTTGCTATGTTGTCCAGGCTGGTCTCCAACCCCTGGCCTTAAGCGAACCTCCTGCTTTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCCACGACACCCAGCCAATGCTCTCACACTTTCTGAGTACACTTTCCCTCAATCTGCCTTGAGTCTCCCGTTCTATGACCAGTAGACATTTCTCACAGAAGCAGGCGGCAGAGAAACAAGAGGAGGGGGCATGGTGAGCAGCAGAGAGGCTGGCGGTGGGGGCCTGAGATCAAGTAGGTCAGCTTGCCACAGGGGCTTTGGGTGGGGATTCAGGGTGGGAATGAATTCACAGAGAAGGAAAGGGAGGTCATGGTGGGGTGTGAACACAGAGGACTGTGGGTTGGGTCCATTTCACAGAGCGACACCAAGCACAGGCTCAGCAGCATGAGCCGGGGCACAGGGTCCTGTCCACACCAGCCTCTCCAGCCCCGGGCAGGAGGGAGGAGGGCTGGCCTGCTCTTACCTTGAGAACGCGCAGAGGCTGGCCGGGTGCTGCCAGAGTTGGGGGCAGGTGCATGGCTGTCTGCCCACAGTGTGCCACTTGGTACTGCAGGGGATTGTAGCTGCCTCGGCTGGCAGCTCGGCTGCCCTCTGGCCCCCGGGGCTCCTCCTTCACCGCCACAGCCCTGGGGTCGTAGCTCCCTGGGCTGCTGTAGATGCCAGGCCCCAGCGCCTTCCTGTCTGGGCCGAAGGTATGTGGAGGGTAGGCAAAGGGCCGAGGGTCAGGCGGCAAGTAGTGGGGGAAGGCAGGGGTTCCGGGGCCCTTGAGGCCTCTGGCCTCAGGCGCTGGCTTCACGGCAAAGAGATCGGAGAGAAGCTGCTCTTCCCCAGACTCGATGTAGGCGGAGAGGTCAATGGAGGCCTCATGCTCACACATGTCCCCTAGCTCCCCGGGCCCAGCTCGGCCCCCTGAGAACTCGAGTGGCTGCTGGCCACCCCGGGGCTCACACTCGTAGTAGGTCCCGTGGGACATGGCCGGCCCGCCCCCTCGGCTCCCCGCCCCCACCTGCTCTTGAGGCACCCCTTGGGGTGCTCCGGCTGCCCTCTCTCTACCTCCTCCTGACCTGGGCCTGCCCTCTCTCGATCTTCTGCCCTAGACCTGCCCTCTGCAGTCTCCTCTGTCACCCACTCCTGTGTGGCCTCTCTCCCCCCTCTGCTCTGCTTCCTTTTCCTTCCTCTGTAGTCAATGCCTCTCTTCTCTTCCCTTTTTTCCCCTCTCTCCCCTTGGGGTGACTCAGGGAGGGGCAGGACACACCCCAGAGGGAGAGATGTAAGCCTTAGAGAAAGGCGACTCCTGGCCTATTCAGCAGTTGGGGACACTCCTTGGTCAGGGACCAAGCCAGGGTTCTGGAGATGCCCGAAGCTGATGCTTCTGGGAATGCCTCTCCACTCCCTGCTGGGAGGCCAGGGGACTCCAAATCCTCGCAGAGGGCAACACCCCACTCTGAGCAACCTCCTCCCTCCGACTTTGAAAAAGTTCTATGCAGAATGAGGTTCCAAGTTAGAGTGAAGAGAGAAAGCCCTCTTCCAGTGCCTACCCTCAGTTGGGTCTCACCTCCTCCCTTGACACGCCTTCCTCTGGCTCTCCCCTGCTGCTGGGCTCCAC
|
CTCTCCCTCCAAACCAGACCTGGGGCACGGGCCTCCAGGACACAGAGGTGCCCGAGAGACACAGAGGCAAAGGCAGGAAAAGGACTGAGTCCTGGGCAAGGTAGACATGCCGCACACGGATGCCCGAGGTGTGGGAGGGCTCTACCGCTGGAGATTTGAAGAAGGGAGAGAGATCTGGGATGATCCAGACACCAGTCTCTCACCTTCTCAGAAAATTATTCCTTGATGTCTGACTCAGCCTTTCACAGCATTGGCTTAGGAGAGACTTTAAGAAGCCCGTAATCTGTCCCTGGGTCCCTGACACTGTTGGGCACTGTTCTTTATTGAATGTGATTCATGTGACACTCGTACTGAGGATCTGTGAGAAGAGTGTAGCGTGGAGTAGAGAGACAGGTACCACGTACTGAGGCAGCAAAGGGACTCAGTGAGTGTCAGGAGAAGCCTCTTACCCCTCTGGCCCTCAACTGCTTTATCTGTAAAATGTGGCTCACCCTACCTTGCTGGTCTGAGGGCAGAGCCCACCAGATGATCTCTTGAGGTCTCTCCCAGCACATCTTGAGATCTGCGATTTTACAGAGCCAATTTTGGTTCTACCTCTAAACAATCGTGTGACTCCAGGTAAGTCCCTTCCCCTCTTTGCAGCCTGTTTTCTTACCTGCAAAATGAGTTTAGATGAGATCTCTGAGGTCCTTTCAGTTCCAGCAAAATGGAGGAATCATAATAAATATGCTTATTACATGCAAAGTTTTCTTTTTCTATGAATATAACAACACTACGGAGTGGGGACAAATATTGCAACCATTTTGCAGATGAGGAAACTGAGGCACAGAAAGACATAATGGCTCAAGGCTCACAGCTAGTAAGTAGCAGTGTAAGATTCAAACTGAGGCTCTTAATTATTGTACCATTCTGTCTCTTAGGCTGTAGTCCAATGCAAAAGAAAATGCTGTTTCGAATGATGGGTTTCCCTGGCACGGGCAGATTGTCATCCTCCTTCTCACTACCAGTGTTCTCATACACAAATCCGGTCTCCAGGTCTTTCCCAACCGATTCCTGTCCCATGCACTCAATTCTCAAGCTTTAGGGAACTGGAGCCTCAGGGATGAGGGACAAAGGATGGAAATGAATGGGTGGGAGCAGCGTGGGGAGGGTGTCCATCTGGTAGACTGAGGCTTTGGAAATGGAGAGAAGAGATGGCGGGCTGGATCAAGGGACCATAAATATGGCAGAGCCATCAGGAATTTTCCCATGGTCACCTGGGGCAGGAGCTCCCAGACCTATACCTCAAGGTGAGAGAGAGTGGGCCTGGGATCAGCAGGCCTGGGCATGAAGGACTGTGTGGTGCCGGGATCTCCCTACAAGCTGAAGATCTTTGTTAGCAGAGCATACAAAGGTGCTCCAGGTCCTGTGGGGGGCGGGGATGTGCCTTCAGCTCACAGAAGGGGGTGATGGGGGATGTCAGGGAGAGAAGAGCAGAGTGACAGATACACGGCCTGGCTGTGTGGTATATTGGGGGTGGGCTGTGGACAGCATGTCTGTGTTTCCACATGTCCACTTGGTCATGGAAACAAGAGGTGCAGACCTAGCCACATGCATCCTCTGTCCCCAGGGTCCTCCATGACACACACACACACACACACACACACACACACACACACACAGCCAACAGTCCCAACACCCAGTCACAGTGCAACTTTATTCAGCCATATAATCATTATGCTGGGTCCTGCCCTCTTTGCCACCCCGGTTGCCATTTATCCATGGTCTATGTCTCAGGGTTCTAGGCCCCCAGCAGGATGGGGGTCCGCAGAGTTAGGCCGTGCCAGGGAGCCTGGTGCCCACAATCCACCAGCCAGCCTCAGCTGCAACCCCCCACGCCCTTGATGAGGTTGGCCGCCTCAGGAATCTGGCGGAAGAGGTTGCGGAGGGTGTCTAGCTCCTGGGTGAGCTGCTCCACGCGGCTGCGGAGGCGCTCGTTCTCTGCCATGTACTCCAGCACCTTCTGCTGCGTCTCCAGAATGCGCCTCTTGGCCTTGTCTCGGCTCTTGTGCACGGCGATGTTGTTGCGCTCCCGCCTCAGCCGGTACTCAAGGCTATCTTTGTTCACTGCCTTCTTGCCCTTGTGTAAGGGGCCAGCCGGGGAGGGCGCCTTCAGGAGGGGACTGCAGGGGGGTGCGGCAGTGGCCAAAGGGGCCTGGAGGGGAAGGCACGGAGAGACGGAGAGGTGAGGGCTGGCCAGGAGGCAGAGCGGAGGCGGGGCGGGAATCTCGGCAGCCAGGGCACACTTGATGCGTCAAAGGAATACAGGACTCAGAGCCAGCTCCTGTCTCTCAGGTCAAAACTATCATCGCTCTGCTTCTGGGAGATGGTGACCCAGATGCACAGGGTCCTCTGCTTGAGACCAAAACTCCCTTTCATGTTCTCACACTTTCTTTCTTTCTTTTTTTGTAAAGATGGAGCCTTGCTATGTTGTCCAGGCTGGTCTCCAACCCCTGGCCTTAAGCGAACCTCCTGCTTTGGCCTCCCAAAGCGCTGGGATTACAGGCATGAGCCACGACACCCAGCCAATGCTCTCACACTTTCTGAGTACACTTTCCCTCAATCTGCCTTGAGTCTCCCGTTCTATGACCAGTAGACATTTCTCACAGAAGCAGGCGGCAGAGAAACAAGAGGAGGGGGCATGGTGAGCAGCAGAGAGGCTGGCGGTGGGGGCCTGAGATCAAGTAGGTCAGCTTGCCACAGGGGCTTTGGGTGGGGATTCAGGGTGGGAATGAATTCACAGAGAAGGAAAGGGAGGTCATGGTGGGGTGTGAACACAGAGGACTGTGGGTTGGGTCCATTTCACAGAGCGACACCAAGCACAGGCTCAGCAGCATGAGCCGGGGCACAGGGTCCTGTCCACACCAGCCTCTCCAGCCCCGGGCAGGAGGGAGGAGGGCTGGCCTGCTCTTACCTTGAGAACGCGCAGAGGCTGGCCGGGTGCTGCCAGAGTTGGGGGCAGGTGCATGGCTGTCTGCCCACAGTGTGCCACTTGGTACTGCAGGGGATTGTAGCTGCCTCGGCTGGCAGCTCGGCTGCCCTCTGGCCCCCGGGGCTCCTCCTTCACCGCCACAGCCCTGGGGTCGTAGCTCCCTGGGCTGCTGTAGATGCCAGGCCCCAGCGCCTTCCTGTCTGGGCCGAAGGTATGTGGAGGGTAGGCAAAGGGCCGAGGGTCAGGCGGCAAGTAGTGGGGGAAGGCAGGGGTTCCGGGGCCCTTGAGGCCTCTGGCCTCAGGCGCTGGCTTCACGGCAAAGAGATCGGAGAGAAGCTGCTCTTCCCCAGACTCGATGTAGGCGGAGAGGTCAATGGAGGCCTCATGCTCACACATGTCCCCTAGCTCCCCGGGCCCAGCTCGGCCCCCTGAGAACTCGAGTGGCTGCTGGCCACCCCGGGGCTCACACTCGTAGTAGGTCCCGTGGGACATGGCCGGCCCGCCCCCTCGGCTCCCCGCCCCCACCTGCTCTTGAGGCACCCCTTGGGGTGCTCCGGCTGCCCTCTCTCTACCTCCTCCTGACCTGGGCCTGCCCTCTCTCGATCTTCTGCCCTAGACCTGCCCTCTGCAGTCTCCTCTGTCACCCACTCCTGTGTGGCCTCTCTCCCCCCTCTGCTCTGCTTCCTTTTCCTTCCTCTGTAGTCAATGCCTCTCTTCTCTTCCCTTTTTTCCCCTCTCTCCCCTTGGGGTGACTCAGGGAGGGGCAGGACACACCCCAGAGGGAGAGATGTAAGCCTTAGAGAAAGGCGACTCCTGGCCTATTCAGCAGTTGGGGACACTCCTTGGTCAGGGACCAAGCCAGGGTTCTGGAGATGCCCGAAGCTGATGCTTCTGGGAATGCCTCTCCACTCCCTGCTGGGAGGCCAGGGGACTCCAAATCCTCGCAGAGGGCAACACCCCACTCTGAGCAACCTCCTCCCTCCGACTTTGAAAAAGTTCTATGCAGAATGAGGTTCCAAGTTAGAGTGAAGAGAGAAAGCCCTCTTCCAGTGCCTACCCTCAGTTGGGTCTCACCTCCTCCCTTGACACGCCTTCCTCTGGCTCTCCCCTGCTGCTGGGCTCCAC
|
Task1_train_19481
|
Given this variant in gene MYH6 (myosin heavy chain 6) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Dilated cardiomyopathy 1EE
|
TTTTCACCCTGCGTTCAGAGGGCTGAACTACCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCACTTTCATGCACTGGGAAAAAAAGTCACCTGGTTTTCCTTCAGTTTCTTCTGTAGTTGAAGGGCCAGCACCTGCTCATCCTCAATCTTACTGTTCTGCTGATTAATGTCAAACTCCTTCCTGCAGGAGAAGGGTGGGGGTGGGGGAGTGACAGGTAGCCTTCCTTCCTCTGGGGCTCATTCTCTTCTTGGCCTTAGTATGCCAGAATCGGCACCTCCCCCTCCCCTCGCCAGCCCAGAAAGTGGCGGAAGAGGGCTGTGATTGACCTTATTCCCAGCATACCCAAGGCAACTGTGGCCAGTGGAGGCGCAGCACCCTGCACTCTATCTACCAGGCCAGACACCTCCATTAGCCCCTCCTGGCCACCACAGTCTCCTACTTCTTAAGCTTTTCTTCCAGCTGCAGTTTATCATTTTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGTTTCCGCTTTGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCTAGGGATCCCTCCAGCTGTTGGAGGGAAGAAAATAAGCAAAGTGTGGAAAACATGAAATCCATAGTGTATGCTCTTTTGCCTCCTTCTAAACTTGAAGTCCAGTGGGATTGGAAGTCAAACCAACAGAGAAATCCTGCAAGCACAAAGGATTCAGAGACCTACTGTAGTGAGGAACTACAGAGAGCAAAAAAGCTTCAGGGGCCATAGAAGTTAATTCTAGGGATCAGGACTTTCTGGGCCATTGGTGTTGCCTGCAAAATCTTGCTCTGAGAGCAGGAGCATGGTTCTTACTACTCACATCATCCACCTGCTGCTCCAGCTTGACCTTAGACTTGGACAGGCTGTTGACCTTGTCTTCCTCAACCTGAAGGTCATCCAGGGCCTGCTGATGGGCCTCTTGTAGAGCTTTCTTCTCCTTGGTCAGCTTAGCGATGATTTCATCCAGCCCAGCCATCTCCTCTGTTAGGTTCTTCACCTGCCGACCAAAAACCCATCCCCTTTAGGGTCAAAGATCACCAGCCTGGAGACATCTATGGGGACCTCCATGCCAAGGACCAGGACAACACTCTAGTCTGGGAGTCTTGAGGAGACCTGGGCTGAAGCCAGAGGGAGCTGCCCTCACCTTGTTCTCTGTTGCATGCTTCTCCTTCTCCACCTTGGCCAGTGTCAGCTCCAGGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCCGCGTTCATCTCCTCCTCATCCTCCAGCCTCTCATTCATCTCCTTTACTTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGGTCGCAGCGCTCCTCAGCATCATTGAGGTTGTCTTGTTCCTGGGAGAAGAGAACAGGGAGGAAGCTGATGGTTAAAGAGAGGAGACCTAGGGTCTTAAAAAGAGCTGGCACTCCTAGACTCCCAGTCCCTGGTTGTGAGATGGGCTATAATCTAGGGGAGGGGAGGAGAGGGCTGAAGAGATAATCACGTGGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCCAGCGTCTCTTTGATGCGCCCGAACTCTTCCTTCATGGTGGCCATCTCCTTCTCCGTCTCTGCGCTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGCATCCCTGGCAAGGAAACGTGGAGGCAGGGTGGGGCACTATAAAAGAGAGCTTCCCAATCATGGGCCCTACTAAGCAAGTTCGTAGGCACGTAGACTTCCTTCTTGTGCACACCCACCTCCAACATCACTACACTGAACATGGAGTTGCTTGATAAATATTTATTAATCAATTTGATGAAAGGGCAGTTTATATCCTCCCAGCTGGGATATTAGTGGTAATGGAAACTACCACTTATAGAATGTCTACTCTGTTTGGTTTTTCTATTCTCATAAGAACTTCAAATATGTTAAAAATTATGTAGGGGTTTACATATAAGAATGTCTATAATAAGTATGTAAGTTATGCAGCATGAAAGCAAAATGACTATCCATGAACCTACCACTGAAACAGGAGCTGAAATGTTACCAGCCATTGATCTACCTGTGCGTTCCTTCCTACACCCCTGTCACCCCGCCAGGAGCAGCCGCCACTCTGAATCTTATTTTTCCTTTCCTTGCTTTTTCAAAAATTACTTTAACCACATATGAATGTATCTTTATTTTTATTTTACTTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTGCCACCCGGATTCAAGCGATTCTCCTGCCTCAGCTCCTGAGTAGCTGGAATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCATCTCCTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGGTTACAGGCATAAGCCACTGTGCCCAGCCATATGTATGTATCTTTAAACAATGAATGGCTGGTTTTGATTATTTATGAGCTTTATAAAAATTGCATCATACTGTATGTATCCTTCCAAGATTTGCCTTTGTTTACTAACAATATGCTTTAATGTTCAAACATATTGTATCATGTAGTTGGAGTTCACATCTTTTCACTGTTTTATAATATTCCACTGAATGACTGTAATACTATTTACCCATTCCCCTGTGGATGGAAATTCAAGTTGTTTTAAGATCTTTGCTATTATGACCAATGCTGCTAAAAGATTATTTTTCATGTCATGGTGTACATGTATAAGAGTTTCTCTGTAGGAATGTACTCAGGAGTGGAATGGAGAAGTATGCAGCTGTTCAACTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCTCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGCTCATGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATCTGCCACCACACCCGGCTAATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCGCGCCTGGCCTGCAGCTGTTCAACTTTAAAAGATAGTGATAAACTGTTTTCCTAGGAAGTTGCACTAATTTACACATCTGTAAGCAGTGGGTCAGGCTTCTTAATTTTTGTCAGTCTAGTGATTTTTAAAACTTTTAAAAATTATTTTTCCTTTCATTTTATTTTTATCTACTTGTTTCTTTCATTTTTTAAAATTTGTAGACCATCTGAGCAAGCAAAGTCTAGTGTTTTAAAATGGTATTTCATTGGTGTCTTAATTTGCATTTTCCTATAGAGAAGTTTCTTTAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAGAAGAATTTGCAATGAGATTCGAAGTGGTAAAGTAACTTGCCCAGGCCAGCTGGTAGGTCTGAACCCAGGTCTTCTGACCCACACTAGTTGACATTGCGGATCTGCCTCTACATCTCTAGTGCATGCCTCCCTTTTCCTCCTGTCTCACCTGCGTTCCACTATCTTCTTGAACTCAA
|
TTTTCACCCTGCGTTCAGAGGGCTGAACTACCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCACTTTCATGCACTGGGAAAAAAAGTCACCTGGTTTTCCTTCAGTTTCTTCTGTAGTTGAAGGGCCAGCACCTGCTCATCCTCAATCTTACTGTTCTGCTGATTAATGTCAAACTCCTTCCTGCAGGAGAAGGGTGGGGGTGGGGGAGTGACAGGTAGCCTTCCTTCCTCTGGGGCTCATTCTCTTCTTGGCCTTAGTATGCCAGAATCGGCACCTCCCCCTCCCCTCGCCAGCCCAGAAAGTGGCGGAAGAGGGCTGTGATTGACCTTATTCCCAGCATACCCAAGGCAACTGTGGCCAGTGGAGGCGCAGCACCCTGCACTCTATCTACCAGGCCAGACACCTCCATTAGCCCCTCCTGGCCACCACAGTCTCCTACTTCTTAAGCTTTTCTTCCAGCTGCAGTTTATCATTTTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGTTTCCGCTTTGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCTAGGGATCCCTCCAGCTGTTGGAGGGAAGAAAATAAGCAAAGTGTGGAAAACATGAAATCCATAGTGTATGCTCTTTTGCCTCCTTCTAAACTTGAAGTCCAGTGGGATTGGAAGTCAAACCAACAGAGAAATCCTGCAAGCACAAAGGATTCAGAGACCTACTGTAGTGAGGAACTACAGAGAGCAAAAAAGCTTCAGGGGCCATAGAAGTTAATTCTAGGGATCAGGACTTTCTGGGCCATTGGTGTTGCCTGCAAAATCTTGCTCTGAGAGCAGGAGCATGGTTCTTACTACTCACATCATCCACCTGCTGCTCCAGCTTGACCTTAGACTTGGACAGGCTGTTGACCTTGTCTTCCTCAACCTGAAGGTCATCCAGGGCCTGCTGATGGGCCTCTTGTAGAGCTTTCTTCTCCTTGGTCAGCTTAGCGATGATTTCATCCAGCCCAGCCATCTCCTCTGTTAGGTTCTTCACCTGCCGACCAAAAACCCATCCCCTTTAGGGTCAAAGATCACCAGCCTGGAGACATCTATGGGGACCTCCATGCCAAGGACCAGGACAACACTCTAGTCTGGGAGTCTTGAGGAGACCTGGGCTGAAGCCAGAGGGAGCTGCCCTCACCTTGTTCTCTGTTGCATGCTTCTCCTTCTCCACCTTGGCCAGTGTCAGCTCCAGGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCCGCGTTCATCTCCTCCTCATCCTCCAGCCTCTCATTCATCTCCTTTACTTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGGTCGCAGCGCTCCTCAGCATCATTGAGGTTGTCTTGTTCCTGGGAGAAGAGAACAGGGAGGAAGCTGATGGTTAAAGAGAGGAGACCTAGGGTCTTAAAAAGAGCTGGCACTCCTAGACTCCCAGTCCCTGGTTGTGAGATGGGCTATAATCTAGGGGAGGGGAGGAGAGGGCTGAAGAGATAATCACGTGGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCCAGCGTCTCTTTGATGCGCCCGAACTCTTCCTTCATGGTGGCCATCTCCTTCTCCGTCTCTGCGCTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGAGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGCATCCCTGGCAAGGAAACGTGGAGGCAGGGTGGGGCACTATAAAAGAGAGCTTCCCAATCATGGGCCCTACTAAGCAAGTTCGTAGGCACGTAGACTTCCTTCTTGTGCACACCCACCTCCAACATCACTACACTGAACATGGAGTTGCTTGATAAATATTTATTAATCAATTTGATGAAAGGGCAGTTTATATCCTCCCAGCTGGGATATTAGTGGTAATGGAAACTACCACTTATAGAATGTCTACTCTGTTTGGTTTTTCTATTCTCATAAGAACTTCAAATATGTTAAAAATTATGTAGGGGTTTACATATAAGAATGTCTATAATAAGTATGTAAGTTATGCAGCATGAAAGCAAAATGACTATCCATGAACCTACCACTGAAACAGGAGCTGAAATGTTACCAGCCATTGATCTACCTGTGCGTTCCTTCCTACACCCCTGTCACCCCGCCAGGAGCAGCCGCCACTCTGAATCTTATTTTTCCTTTCCTTGCTTTTTCAAAAATTACTTTAACCACATATGAATGTATCTTTATTTTTATTTTACTTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTGCCACCCGGATTCAAGCGATTCTCCTGCCTCAGCTCCTGAGTAGCTGGAATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCATCTCCTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGGTTACAGGCATAAGCCACTGTGCCCAGCCATATGTATGTATCTTTAAACAATGAATGGCTGGTTTTGATTATTTATGAGCTTTATAAAAATTGCATCATACTGTATGTATCCTTCCAAGATTTGCCTTTGTTTACTAACAATATGCTTTAATGTTCAAACATATTGTATCATGTAGTTGGAGTTCACATCTTTTCACTGTTTTATAATATTCCACTGAATGACTGTAATACTATTTACCCATTCCCCTGTGGATGGAAATTCAAGTTGTTTTAAGATCTTTGCTATTATGACCAATGCTGCTAAAAGATTATTTTTCATGTCATGGTGTACATGTATAAGAGTTTCTCTGTAGGAATGTACTCAGGAGTGGAATGGAGAAGTATGCAGCTGTTCAACTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCTCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGCTCATGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATCTGCCACCACACCCGGCTAATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCGCGCCTGGCCTGCAGCTGTTCAACTTTAAAAGATAGTGATAAACTGTTTTCCTAGGAAGTTGCACTAATTTACACATCTGTAAGCAGTGGGTCAGGCTTCTTAATTTTTGTCAGTCTAGTGATTTTTAAAACTTTTAAAAATTATTTTTCCTTTCATTTTATTTTTATCTACTTGTTTCTTTCATTTTTTAAAATTTGTAGACCATCTGAGCAAGCAAAGTCTAGTGTTTTAAAATGGTATTTCATTGGTGTCTTAATTTGCATTTTCCTATAGAGAAGTTTCTTTAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAGAAGAATTTGCAATGAGATTCGAAGTGGTAAAGTAACTTGCCCAGGCCAGCTGGTAGGTCTGAACCCAGGTCTTCTGACCCACACTAGTTGACATTGCGGATCTGCCTCTACATCTCTAGTGCATGCCTCCCTTTTCCTCCTGTCTCACCTGCGTTCCACTATCTTCTTGAACTCAA
|
Task1_train_19482
|
A variant affecting Chromosome 14, within the gene MYH6 (myosin heavy chain 6), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Atrial septal defect 3
|
CCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCACTTTCATGCACTGGGAAAAAAAGTCACCTGGTTTTCCTTCAGTTTCTTCTGTAGTTGAAGGGCCAGCACCTGCTCATCCTCAATCTTACTGTTCTGCTGATTAATGTCAAACTCCTTCCTGCAGGAGAAGGGTGGGGGTGGGGGAGTGACAGGTAGCCTTCCTTCCTCTGGGGCTCATTCTCTTCTTGGCCTTAGTATGCCAGAATCGGCACCTCCCCCTCCCCTCGCCAGCCCAGAAAGTGGCGGAAGAGGGCTGTGATTGACCTTATTCCCAGCATACCCAAGGCAACTGTGGCCAGTGGAGGCGCAGCACCCTGCACTCTATCTACCAGGCCAGACACCTCCATTAGCCCCTCCTGGCCACCACAGTCTCCTACTTCTTAAGCTTTTCTTCCAGCTGCAGTTTATCATTTTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGTTTCCGCTTTGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCTAGGGATCCCTCCAGCTGTTGGAGGGAAGAAAATAAGCAAAGTGTGGAAAACATGAAATCCATAGTGTATGCTCTTTTGCCTCCTTCTAAACTTGAAGTCCAGTGGGATTGGAAGTCAAACCAACAGAGAAATCCTGCAAGCACAAAGGATTCAGAGACCTACTGTAGTGAGGAACTACAGAGAGCAAAAAAGCTTCAGGGGCCATAGAAGTTAATTCTAGGGATCAGGACTTTCTGGGCCATTGGTGTTGCCTGCAAAATCTTGCTCTGAGAGCAGGAGCATGGTTCTTACTACTCACATCATCCACCTGCTGCTCCAGCTTGACCTTAGACTTGGACAGGCTGTTGACCTTGTCTTCCTCAACCTGAAGGTCATCCAGGGCCTGCTGATGGGCCTCTTGTAGAGCTTTCTTCTCCTTGGTCAGCTTAGCGATGATTTCATCCAGCCCAGCCATCTCCTCTGTTAGGTTCTTCACCTGCCGACCAAAAACCCATCCCCTTTAGGGTCAAAGATCACCAGCCTGGAGACATCTATGGGGACCTCCATGCCAAGGACCAGGACAACACTCTAGTCTGGGAGTCTTGAGGAGACCTGGGCTGAAGCCAGAGGGAGCTGCCCTCACCTTGTTCTCTGTTGCATGCTTCTCCTTCTCCACCTTGGCCAGTGTCAGCTCCAGGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCCGCGTTCATCTCCTCCTCATCCTCCAGCCTCTCATTCATCTCCTTTACTTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGGTCGCAGCGCTCCTCAGCATCATTGAGGTTGTCTTGTTCCTGGGAGAAGAGAACAGGGAGGAAGCTGATGGTTAAAGAGAGGAGACCTAGGGTCTTAAAAAGAGCTGGCACTCCTAGACTCCCAGTCCCTGGTTGTGAGATGGGCTATAATCTAGGGGAGGGGAGGAGAGGGCTGAAGAGATAATCACGTGGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCCAGCGTCTCTTTGATGCGCCCGAACTCTTCCTTCATGGTGGCCATCTCCTTCTCCGTCTCTGCGCTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGCATCCCTGGCAAGGAAACGTGGAGGCAGGGTGGGGCACTATAAAAGAGAGCTTCCCAATCATGGGCCCTACTAAGCAAGTTCGTAGGCACGTAGACTTCCTTCTTGTGCACACCCACCTCCAACATCACTACACTGAACATGGAGTTGCTTGATAAATATTTATTAATCAATTTGATGAAAGGGCAGTTTATATCCTCCCAGCTGGGATATTAGTGGTAATGGAAACTACCACTTATAGAATGTCTACTCTGTTTGGTTTTTCTATTCTCATAAGAACTTCAAATATGTTAAAAATTATGTAGGGGTTTACATATAAGAATGTCTATAATAAGTATGTAAGTTATGCAGCATGAAAGCAAAATGACTATCCATGAACCTACCACTGAAACAGGAGCTGAAATGTTACCAGCCATTGATCTACCTGTGCGTTCCTTCCTACACCCCTGTCACCCCGCCAGGAGCAGCCGCCACTCTGAATCTTATTTTTCCTTTCCTTGCTTTTTCAAAAATTACTTTAACCACATATGAATGTATCTTTATTTTTATTTTACTTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTGCCACCCGGATTCAAGCGATTCTCCTGCCTCAGCTCCTGAGTAGCTGGAATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCATCTCCTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGGTTACAGGCATAAGCCACTGTGCCCAGCCATATGTATGTATCTTTAAACAATGAATGGCTGGTTTTGATTATTTATGAGCTTTATAAAAATTGCATCATACTGTATGTATCCTTCCAAGATTTGCCTTTGTTTACTAACAATATGCTTTAATGTTCAAACATATTGTATCATGTAGTTGGAGTTCACATCTTTTCACTGTTTTATAATATTCCACTGAATGACTGTAATACTATTTACCCATTCCCCTGTGGATGGAAATTCAAGTTGTTTTAAGATCTTTGCTATTATGACCAATGCTGCTAAAAGATTATTTTTCATGTCATGGTGTACATGTATAAGAGTTTCTCTGTAGGAATGTACTCAGGAGTGGAATGGAGAAGTATGCAGCTGTTCAACTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCTCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGCTCATGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATCTGCCACCACACCCGGCTAATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCGCGCCTGGCCTGCAGCTGTTCAACTTTAAAAGATAGTGATAAACTGTTTTCCTAGGAAGTTGCACTAATTTACACATCTGTAAGCAGTGGGTCAGGCTTCTTAATTTTTGTCAGTCTAGTGATTTTTAAAACTTTTAAAAATTATTTTTCCTTTCATTTTATTTTTATCTACTTGTTTCTTTCATTTTTTAAAATTTGTAGACCATCTGAGCAAGCAAAGTCTAGTGTTTTAAAATGGTATTTCATTGGTGTCTTAATTTGCATTTTCCTATAGAGAAGTTTCTTTAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAGAAGAATTTGCAATGAGATTCGAAGTGGTAAAGTAACTTGCCCAGGCCAGCTGGTAGGTCTGAACCCAGGTCTTCTGACCCACACTAGTTGACATTGCGGATCTGCCTCTACATCTCTAGTGCATGCCTCCCTTTTCCTCCTGTCTCACCTGCGTTCCACTATCTTCTTGAACTCAATGCGCATGAGCTGGCCCCGGGCTTGGGCCT
|
CCAGAGGAAGGGTTAGAGGAGAATAGAGCTCTATCATTTGTCTTAGAGTAGAAAGTCCCTGAGGCAGAGCAGATCTCAGAAGGAGAAGCCCTTTAGTAGGTATGAGTCCCCCTTCTCAAACAGTTTTGCTAACGTAATGTATTCTTGCTCTATGGGGGAAGGCTAGTGTTCCTGAGCGCCTGTAAGTCAGGGATGGTTGGGTCTATGAGGCTGCCTGGAGTTCCAGATATTGTGTAGAACCCTAAGCAGCTGCTGCAGCCTCAGTTACCTCAGGGCTATTGAGCTCCCACTTTCATGCACTGGGAAAAAAAGTCACCTGGTTTTCCTTCAGTTTCTTCTGTAGTTGAAGGGCCAGCACCTGCTCATCCTCAATCTTACTGTTCTGCTGATTAATGTCAAACTCCTTCCTGCAGGAGAAGGGTGGGGGTGGGGGAGTGACAGGTAGCCTTCCTTCCTCTGGGGCTCATTCTCTTCTTGGCCTTAGTATGCCAGAATCGGCACCTCCCCCTCCCCTCGCCAGCCCAGAAAGTGGCGGAAGAGGGCTGTGATTGACCTTATTCCCAGCATACCCAAGGCAACTGTGGCCAGTGGAGGCGCAGCACCCTGCACTCTATCTACCAGGCCAGACACCTCCATTAGCCCCTCCTGGCCACCACAGTCTCCTACTTCTTAAGCTTTTCTTCCAGCTGCAGTTTATCATTTTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGTTTCCGCTTTGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCTAGGGATCCCTCCAGCTGTTGGAGGGAAGAAAATAAGCAAAGTGTGGAAAACATGAAATCCATAGTGTATGCTCTTTTGCCTCCTTCTAAACTTGAAGTCCAGTGGGATTGGAAGTCAAACCAACAGAGAAATCCTGCAAGCACAAAGGATTCAGAGACCTACTGTAGTGAGGAACTACAGAGAGCAAAAAAGCTTCAGGGGCCATAGAAGTTAATTCTAGGGATCAGGACTTTCTGGGCCATTGGTGTTGCCTGCAAAATCTTGCTCTGAGAGCAGGAGCATGGTTCTTACTACTCACATCATCCACCTGCTGCTCCAGCTTGACCTTAGACTTGGACAGGCTGTTGACCTTGTCTTCCTCAACCTGAAGGTCATCCAGGGCCTGCTGATGGGCCTCTTGTAGAGCTTTCTTCTCCTTGGTCAGCTTAGCGATGATTTCATCCAGCCCAGCCATCTCCTCTGTTAGGTTCTTCACCTGCCGACCAAAAACCCATCCCCTTTAGGGTCAAAGATCACCAGCCTGGAGACATCTATGGGGACCTCCATGCCAAGGACCAGGACAACACTCTAGTCTGGGAGTCTTGAGGAGACCTGGGCTGAAGCCAGAGGGAGCTGCCCTCACCTTGTTCTCTGTTGCATGCTTCTCCTTCTCCACCTTGGCCAGTGTCAGCTCCAGGTCATCAATGTCCTTCTTGAGCTCTGAGCACTCGTCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCCGCGTTCATCTCCTCCTCATCCTCCAGCCTCTCATTCATCTCCTTTACTTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGGTCGCAGCGCTCCTCAGCATCATTGAGGTTGTCTTGTTCCTGGGAGAAGAGAACAGGGAGGAAGCTGATGGTTAAAGAGAGGAGACCTAGGGTCTTAAAAAGAGCTGGCACTCCTAGACTCCCAGTCCCTGGTTGTGAGATGGGCTATAATCTAGGGGAGGGGAGGAGAGGGCTGAAGAGATAATCACGTGGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCCAGCGTCTCTTTGATGCGCCCGAACTCTTCCTTCATGGTGGCCATCTCCTTCTCCGTCTCTGCGCTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGATTGTTCCACTGGATTACCAGCAGGGCATCCCTGGCAAGGAAACGTGGAGGCAGGGTGGGGCACTATAAAAGAGAGCTTCCCAATCATGGGCCCTACTAAGCAAGTTCGTAGGCACGTAGACTTCCTTCTTGTGCACACCCACCTCCAACATCACTACACTGAACATGGAGTTGCTTGATAAATATTTATTAATCAATTTGATGAAAGGGCAGTTTATATCCTCCCAGCTGGGATATTAGTGGTAATGGAAACTACCACTTATAGAATGTCTACTCTGTTTGGTTTTTCTATTCTCATAAGAACTTCAAATATGTTAAAAATTATGTAGGGGTTTACATATAAGAATGTCTATAATAAGTATGTAAGTTATGCAGCATGAAAGCAAAATGACTATCCATGAACCTACCACTGAAACAGGAGCTGAAATGTTACCAGCCATTGATCTACCTGTGCGTTCCTTCCTACACCCCTGTCACCCCGCCAGGAGCAGCCGCCACTCTGAATCTTATTTTTCCTTTCCTTGCTTTTTCAAAAATTACTTTAACCACATATGAATGTATCTTTATTTTTATTTTACTTTATTTATTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTGCCACCCGGATTCAAGCGATTCTCCTGCCTCAGCTCCTGAGTAGCTGGAATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCATCTCCTGACCTCAGGTGATCCGCCTGCCTTAGCCTCCCAAAGTGCTGGGGTTACAGGCATAAGCCACTGTGCCCAGCCATATGTATGTATCTTTAAACAATGAATGGCTGGTTTTGATTATTTATGAGCTTTATAAAAATTGCATCATACTGTATGTATCCTTCCAAGATTTGCCTTTGTTTACTAACAATATGCTTTAATGTTCAAACATATTGTATCATGTAGTTGGAGTTCACATCTTTTCACTGTTTTATAATATTCCACTGAATGACTGTAATACTATTTACCCATTCCCCTGTGGATGGAAATTCAAGTTGTTTTAAGATCTTTGCTATTATGACCAATGCTGCTAAAAGATTATTTTTCATGTCATGGTGTACATGTATAAGAGTTTCTCTGTAGGAATGTACTCAGGAGTGGAATGGAGAAGTATGCAGCTGTTCAACTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCTCGATCTTGGCTCACTGCAAGCTCTGCCTCCCGGGCTCATGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGACTACAGGCATCTGCCACCACACCCGGCTAATTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTTTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCGCGCCTGGCCTGCAGCTGTTCAACTTTAAAAGATAGTGATAAACTGTTTTCCTAGGAAGTTGCACTAATTTACACATCTGTAAGCAGTGGGTCAGGCTTCTTAATTTTTGTCAGTCTAGTGATTTTTAAAACTTTTAAAAATTATTTTTCCTTTCATTTTATTTTTATCTACTTGTTTCTTTCATTTTTTAAAATTTGTAGACCATCTGAGCAAGCAAAGTCTAGTGTTTTAAAATGGTATTTCATTGGTGTCTTAATTTGCATTTTCCTATAGAGAAGTTTCTTTAAAAAAAAAAAAAGAAGAAGAAGAAGAAGAAGAAGAATTTGCAATGAGATTCGAAGTGGTAAAGTAACTTGCCCAGGCCAGCTGGTAGGTCTGAACCCAGGTCTTCTGACCCACACTAGTTGACATTGCGGATCTGCCTCTACATCTCTAGTGCATGCCTCCCTTTTCCTCCTGTCTCACCTGCGTTCCACTATCTTCTTGAACTCAATGCGCATGAGCTGGCCCCGGGCTTGGGCCT
|
Task1_train_19483
|
This variant lies on Chromosome 14 and affects the gene MYH6 (myosin heavy chain 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Primary familial dilated cardiomyopathy
|
AATTCCCCACCTCAGTTCTGGTGAGTGCAGCTGGGGTTGAGGAGTTGGGATTGTGGTGGACTCTCTGTCTGCCCACGTCTCCCACGTCCCTGTCCCTCACCATCCCACAACACACCCCACTGCCCCACAAGCCTCAGAGTCTCTGGGATCTGAGTCCCGCAGAGAGCCTGGTCAGCACCTCAGGCCTTCCCAGGGCTGCCTGCCTGCCCCTCCCACCTTCGGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATGATGGCTCCCGTCAGCTTGTAGACGCCAGCTTTCTCCTCTGAAGTGAAGCCCAGCACGTCAAAGGCACTCTGGGACAGAGCGAGAGACAAAGAGGGGGGTTGGAGCGGTGGCCCCAGGAGCTCCTGGGGTCCCTCGAACGGCCGCAGCAGCCCCCTCACTCACATCGGTGGCCATGAGCTCCTCGGAGTCATCAATGGAGGCCACGGACACCTCTCCCTGAGACACGAAGGCGTAGTCGTAGGGATTGTTGGTGACCAGCAGCATGTCTGCACCAGGCAAGGGGTGAGGCAGGGGCAAGGGGGCAGGCGGAGGGCAGGGAAGGGGCAGGTAGAGTTGGGAAAGGGAGGGAGGGGCAGGGAGGGGTAAGGGACGGGGTGAATGGAGGAAGGGAGGACAGGGAGCAGGGAGAGAAGAGAAGTCAGCAAGGACCAAGGAGTGAACCCAGAGGAAGTGAAAGGGTAGAAGAGGGGCCCTGGCAGGGGCTCCAGTAACAAGGAGGAGGGAGGGTGGCAGGGGAGTGACACATGGGAGATGGGGAGGCAAATAAAGAGGAGAAGGCAAAGACAAGCCGAGGGAGGAGTGGAGAGAAGGGTGGAGAAGGAGTGAGGTGTGTGACTGCACAGGGAGGCGAGAGGAGACGCAGGTGGTCTTGGGAGGGAAGCGAGAGGGAGCTGGCGGAGTGAGTGGAGGGAGAAGGGAAGTGAGCAGCAAGGTGGGGCACAGTGGGGAGCAGGAGGGCCCTGCCCTGCATGCAGGAGTCGTTGGGGTGTGCAGCAGGGACAGCAGTGGGTGGGGGGTGGCAGGCAGGTTCACCCAGCAACTCCGGCTTCTTGTTGGACAGAATCTGGTAGAAGATGTGGTAGTTTCTCTCAGCTTTCAGCTGGAAGATCACCCGGGACTTCTCCAGCAGGTCTGAGGTGGGTGGAGGGGAGGAAGGCAGGTGAGGAAGGAAAGAGAGTAGAGCCAGAAAAAGGTGGCCATGGGGGCAGAGGGCAGGGGGCACCCACAGCTTGATGAAGAGGGCCAGGCGAGAAGATGTGGCTTAAATAAAAAGGATCCTAAAGCCCAGAGGCAAATGCAGACAAAACAGGAGATGGCAGGAATGATGAGACTGGCCGCCAGGCAGGGAGAGAAGGCAGAGGGGGACCTAGAGGGTGGCAGCCTCCCTGCTGGTACTCACAGGTCTCTATGTCTGCAGAAGCCAGCTTTCCAGTGGCCCCAAAGTGGATCCTAATGAATTTCCCCTGGGGACGAATGGGACAGAGTGAGGGAACTGGCGGGAAGGACAGAGTGAAATCCTGGCCCTCTGTTCAGCCCAGAAGCCCTGGATGGTTCTGGAAATGTAAACGACCTCTTTGGTGTCTCAGTTGAGTATAAGTGAAGCCGGGCAGAGGATGCCACCCTCACACACTGTGCAGGGACCTCCTAGTGGAACCTCGGCCCAGAGGGGAACACATACAGAATGCCTCCTGCTCATACCTCTCATATGATCTCACCTAATCCTCCCAGTAATCTGCAGGGTGGATATTAGTCCCCCTGTTTCACAGGTGAAGGAACTAGGGCTCAGAGAGGTGTAAGGACTTGCTGAGCAAGTGGAAAGTCAGACCTTTGGCTCCAAAGCCTATGCTCTCTTCCCACCAACGTGTGCATGTTGATATCCCAAAGCCAGATACAGTACAATCAACTGGGTGTGGCAAAACAGCACCCCCTTTTTCTTGTCAAGGCTGGATGAGGCCACTGGGAGTGGTCAAAGGCACTCACAAAGCGGGAGGAGTTGTCGTTCCGGACAGTCTTGGCATTGCCGAAGGCCTCCAGAGCGGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTATGAAAGGAGCAGAACTGCATGGGTTCATCCTCCATCCACCTCCAGGCAGTGGTGAGAGGGCAGGGAGGCTGCCCTGGCCCTGAGGAATGGGGGTGCGGGGCTGGGTGAACCGCTAGTGGGTCTGCGACTCCACAGGATCCTACCCAGACCTCAGGGTGAGTGTCTCCTGTCAGGAAGGTCTTCCATACTGGGCTGACCATCGGGAGCCCAGCTCAGTGTGGCTGTCCCCACCACGTCACAGGGAGGGGAGGGTTAGGGGTAACTCGGGTCAGCCTGCCCCCCAACCCCTGTTCTGCCGAGCCTGTGTCCCCCATGGCACCTTGTTCGCATTGGCATTGTCCTTCTTGCCACGGTCACCTATGGCTGCAATGCTGGCAAAGTACTGGATGACACGCTTGGTGTTCACAGTCTTCCCCGCCCCGGATTCTCCCCTGGGGGCCACAGAGACCAATCAAAACTCAGGATTCCTACTGTTCTCCATACAGGGCTCAGCATCACATGCTCCCCTTCCCAGCCTGGCCATCAGAGCCCAGCACCCAGCAGGATTTGCCTGACATGGTTCATTGCTCTGGCACCCCTCTAATGAGAGCTCAGTGCCCCATGCTCCCTGCAATCCCAGCCTTAAACCTCTCCTCCCAACTACACCCTAGGCATCAGCGTGTATGCCCCCAGCCCAGTCCCTTCTGTGGGAGGATGGCACTCGCTCACGTGATGAGGATGGACTGGTTCTCCCGATCTGGAAGAAAAAAGAGGAGAAGCAATGGGGTCAGGGCTGAGGATCTGGGTGGGTGTCTGGGAGGAGGAGCAGAGACCAGGGGCCACCAGGCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCACTCCTCTTCTTGCCCCGGTAGGCGGCCACCACCTCGGCATTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCCGAGTAGGTCTGGAGCAGGAGACAAGGCTGGGCATGAGGTTGGTGGGGAGAGCCTGGGACAGGCAGTGGTGGCAGCCAGGCATGTCCCTGTTCACTCCAGCTGGCTCTACTCCTCCTGCAGCTGACTAGGGGTGGAGGGGGGAAGGGGACTTGGGTCCCTTGGGAGTCTCTCCCCCTCTTCTTGGGAGAGCCCCCCTGGCTTATTTAGGCCTCCACGCAGCACAGGAAGCCTCTGCAGTGTGCAGGAGCCACTCACATATATCATCCAGGCCGCGTAGCGCTCCTTGAGGTTGAAAAGCACCGCGGGCTCGTGCAGGAAGGTCAGCATGGCCATGTCCTCAATCTTGTCGAACTTGGGTGGGTTCTGCTGCAACACCTGGTCCTCCTTCACAGTCACCGTCTGGAGGGGGCGCATAAGCAGGAGGATGAGTGACCACAATCCCTCCGGGACCCTTGCCAGCACTGCCCACTGACCTCCTCCCAGGACACAGGGACTTGGCCTTGCTCCCCTTGCTCTGACCAGTGCCCCGGCCCCTACCCCGATGTCCCCTGGGACACTTTCCCCAGGTAATTTCCCTTCCCATTGTATCTCCCATCCTAGAGACTGTCCTAGGGTACCTTTCTCTTGCCAGATCCCCAGACCATCCTGGGGACACCCTGTGCCCATGACCATCACTCTTCAGTCCCTATGTTCCAAGGGTCTTGGGGCAGACCTGGAGATTGGCAGCTCTCAGATCTGTGCACACCTTATGCTGACCCCGAGGCTGTCTCCCGCGGGCAGCGCTTTAGGGTATCTGTTGCTCAGGGCAAACCTTCACCCCTGCTGGAAAAGTAGTTCACCCATCTACTCCACACTCCCCATCCATCACTGTTGGTGTGGTTTGATTGGCAGCAGTCAGTTTGCCATGCCCTGATGTCATTAGATCCTGCCAGTAGGTATTCCAGTGTTTTTTATAGTGGAGAAATCCGTGGC
|
AATTCCCCACCTCAGTTCTGGTGAGTGCAGCTGGGGTTGAGGAGTTGGGATTGTGGTGGACTCTCTGTCTGCCCACGTCTCCCACGTCCCTGTCCCTCACCATCCCACAACACACCCCACTGCCCCACAAGCCTCAGAGTCTCTGGGATCTGAGTCCCGCAGAGAGCCTGGTCAGCACCTCAGGCCTTCCCAGGGCTGCCTGCCTGCCCCTCCCACCTTCGGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCTGCTTGAACTTCATGTTCCCGTAGTGCATGATGGCTCCCGTCAGCTTGTAGACGCCAGCTTTCTCCTCTGAAGTGAAGCCCAGCACGTCAAAGGCACTCTGGGACAGAGCGAGAGACAAAGAGGGGGGTTGGAGCGGTGGCCCCAGGAGCTCCTGGGGTCCCTCGAACGGCCGCAGCAGCCCCCTCACTCACATCGGTGGCCATGAGCTCCTCGGAGTCATCAATGGAGGCCACGGACACCTCTCCCTGAGACACGAAGGCGTAGTCGTAGGGATTGTTGGTGACCAGCAGCATGTCTGCACCAGGCAAGGGGTGAGGCAGGGGCAAGGGGGCAGGCGGAGGGCAGGGAAGGGGCAGGTAGAGTTGGGAAAGGGAGGGAGGGGCAGGGAGGGGTAAGGGACGGGGTGAATGGAGGAAGGGAGGACAGGGAGCAGGGAGAGAAGAGAAGTCAGCAAGGACCAAGGAGTGAACCCAGAGGAAGTGAAAGGGTAGAAGAGGGGCCCTGGCAGGGGCTCCAGTAACAAGGAGGAGGGAGGGTGGCAGGGGAGTGACACATGGGAGATGGGGAGGCAAATAAAGAGGAGAAGGCAAAGACAAGCCGAGGGAGGAGTGGAGAGAAGGGTGGAGAAGGAGTGAGGTGTGTGACTGCACAGGGAGGCGAGAGGAGACGCAGGTGGTCTTGGGAGGGAAGCGAGAGGGAGCTGGCGGAGTGAGTGGAGGGAGAAGGGAAGTGAGCAGCAAGGTGGGGCACAGTGGGGAGCAGGAGGGCCCTGCCCTGCATGCAGGAGTCGTTGGGGTGTGCAGCAGGGACAGCAGTGGGTGGGGGGTGGCAGGCAGGTTCACCCAGCAACTCCGGCTTCTTGTTGGACAGAATCTGGTAGAAGATGTGGTAGTTTCTCTCAGCTTTCAGCTGGAAGATCACCCGGGACTTCTCCAGCAGGTCTGAGGTGGGTGGAGGGGAGGAAGGCAGGTGAGGAAGGAAAGAGAGTAGAGCCAGAAAAAGGTGGCCATGGGGGCAGAGGGCAGGGGGCACCCACAGCTTGATGAAGAGGGCCAGGCGAGAAGATGTGGCTTAAATAAAAAGGATCCTAAAGCCCAGAGGCAAATGCAGACAAAACAGGAGATGGCAGGAATGATGAGACTGGCCGCCAGGCAGGGAGAGAAGGCAGAGGGGGACCTAGAGGGTGGCAGCCTCCCTGCTGGTACTCACAGGTCTCTATGTCTGCAGAAGCCAGCTTTCCAGTGGCCCCAAAGTGGATCCTAATGAATTTCCCCTGGGGACGAATGGGACAGAGTGAGGGAACTGGCGGGAAGGACAGAGTGAAATCCTGGCCCTCTGTTCAGCCCAGAAGCCCTGGATGGTTCTGGAAATGTAAACGACCTCTTTGGTGTCTCAGTTGAGTATAAGTGAAGCCGGGCAGAGGATGCCACCCTCACACACTGTGCAGGGACCTCCTAGTGGAACCTCGGCCCAGAGGGGAACACATACAGAATGCCTCCTGCTCATACCTCTCATATGATCTCACCTAATCCTCCCAGTAATCTGCAGGGTGGATATTAGTCCCCCTGTTTCACAGGTGAAGGAACTAGGGCTCAGAGAGGTGTAAGGACTTGCTGAGCAAGTGGAAAGTCAGACCTTTGGCTCCAAAGCCTATGCTCTCTTCCCACCAACGTGTGCATGTTGATATCCCAAAGCCAGATACAGTACAATCAACTGGGTGTGGCAAAACAGCACCCCCTTTTTCTTGTCAAGGCTGGATGAGGCCACTGGGAGTGGTCAAAGGCACTCACCAAGCGGGAGGAGTTGTCGTTCCGGACAGTCTTGGCATTGCCGAAGGCCTCCAGAGCGGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTATGAAAGGAGCAGAACTGCATGGGTTCATCCTCCATCCACCTCCAGGCAGTGGTGAGAGGGCAGGGAGGCTGCCCTGGCCCTGAGGAATGGGGGTGCGGGGCTGGGTGAACCGCTAGTGGGTCTGCGACTCCACAGGATCCTACCCAGACCTCAGGGTGAGTGTCTCCTGTCAGGAAGGTCTTCCATACTGGGCTGACCATCGGGAGCCCAGCTCAGTGTGGCTGTCCCCACCACGTCACAGGGAGGGGAGGGTTAGGGGTAACTCGGGTCAGCCTGCCCCCCAACCCCTGTTCTGCCGAGCCTGTGTCCCCCATGGCACCTTGTTCGCATTGGCATTGTCCTTCTTGCCACGGTCACCTATGGCTGCAATGCTGGCAAAGTACTGGATGACACGCTTGGTGTTCACAGTCTTCCCCGCCCCGGATTCTCCCCTGGGGGCCACAGAGACCAATCAAAACTCAGGATTCCTACTGTTCTCCATACAGGGCTCAGCATCACATGCTCCCCTTCCCAGCCTGGCCATCAGAGCCCAGCACCCAGCAGGATTTGCCTGACATGGTTCATTGCTCTGGCACCCCTCTAATGAGAGCTCAGTGCCCCATGCTCCCTGCAATCCCAGCCTTAAACCTCTCCTCCCAACTACACCCTAGGCATCAGCGTGTATGCCCCCAGCCCAGTCCCTTCTGTGGGAGGATGGCACTCGCTCACGTGATGAGGATGGACTGGTTCTCCCGATCTGGAAGAAAAAAGAGGAGAAGCAATGGGGTCAGGGCTGAGGATCTGGGTGGGTGTCTGGGAGGAGGAGCAGAGACCAGGGGCCACCAGGCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCACTCCTCTTCTTGCCCCGGTAGGCGGCCACCACCTCGGCATTGTACACCGGCAGCCACTTGTAGGGGTTGACAGTGACACAGAAGAGGCCCGAGTAGGTCTGGAGCAGGAGACAAGGCTGGGCATGAGGTTGGTGGGGAGAGCCTGGGACAGGCAGTGGTGGCAGCCAGGCATGTCCCTGTTCACTCCAGCTGGCTCTACTCCTCCTGCAGCTGACTAGGGGTGGAGGGGGGAAGGGGACTTGGGTCCCTTGGGAGTCTCTCCCCCTCTTCTTGGGAGAGCCCCCCTGGCTTATTTAGGCCTCCACGCAGCACAGGAAGCCTCTGCAGTGTGCAGGAGCCACTCACATATATCATCCAGGCCGCGTAGCGCTCCTTGAGGTTGAAAAGCACCGCGGGCTCGTGCAGGAAGGTCAGCATGGCCATGTCCTCAATCTTGTCGAACTTGGGTGGGTTCTGCTGCAACACCTGGTCCTCCTTCACAGTCACCGTCTGGAGGGGGCGCATAAGCAGGAGGATGAGTGACCACAATCCCTCCGGGACCCTTGCCAGCACTGCCCACTGACCTCCTCCCAGGACACAGGGACTTGGCCTTGCTCCCCTTGCTCTGACCAGTGCCCCGGCCCCTACCCCGATGTCCCCTGGGACACTTTCCCCAGGTAATTTCCCTTCCCATTGTATCTCCCATCCTAGAGACTGTCCTAGGGTACCTTTCTCTTGCCAGATCCCCAGACCATCCTGGGGACACCCTGTGCCCATGACCATCACTCTTCAGTCCCTATGTTCCAAGGGTCTTGGGGCAGACCTGGAGATTGGCAGCTCTCAGATCTGTGCACACCTTATGCTGACCCCGAGGCTGTCTCCCGCGGGCAGCGCTTTAGGGTATCTGTTGCTCAGGGCAAACCTTCACCCCTGCTGGAAAAGTAGTTCACCCATCTACTCCACACTCCCCATCCATCACTGTTGGTGTGGTTTGATTGGCAGCAGTCAGTTTGCCATGCCCTGATGTCATTAGATCCTGCCAGTAGGTATTCCAGTGTTTTTTATAGTGGAGAAATCCGTGGC
|
Task1_train_19484
|
The gene MYH7 (myosin heavy chain 7) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; not provided
|
GCCGACAGCCCCAGTGCCTTTCAAGCCCCTGACCTCTGTGGCCCACAGTCCCAGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACCCCGAACCGCTGCCCTTTGCCCAGCCCTGGGCAGTATCCATGGTGGTGGGTGGGGCAGGGTTGACGGAAGCTGGGGTGCAGGTCCACAGTAGATGGGCTCAGGGTGCTCTAGGTGAACTTTAGGGGTCTCCCTAAATCTCCTTTAAATCCTGGCTGGACCAGGGAGAAGGCTGGGAGGAGAGGTGTCGCCTCTGCTGCATTTGGCTGGTTTGGGGGAAGTGAAAGGGGTTTTCAGTGCTGCTCCACGAAGGCCTCCTAGGCCAGGCCTTTGAATTTGCCCCCACTCCCCTGCATTTCCACCTCCCCTAGTCCAGACCCCATCCCCGGGTCCTCAGGGCAGTGAAGAAGAGTCTGGAGTCAGGATCTCGGCTTCAAGGAAAATTGCTTTATTCTGCTTCCTCCCAAGGAGCTGTTACACAGGCTCCAGCATGGGGCTTTGCTGGCACCTCCAGGGCTGAGCAGATCAAGATGTGGCAAAGCTACTCCTCATTCAAGCCCTTTTGAAAGGAAACAAAGTCCAATCAGTCCTTGGAGAGATGGTATTGGGCAGGGACAGGGCATGGGAACAAAGGTGAGAGGGGTCTGATGGTGGGGGGCCTGCTTTGTGGGCAGGTGGAAGCCCCTGTGGCAGCAGCACATGTGTTTCCAGGGATCGATGTTCGGGGGGCAAGTTCTGGAGGGTAGGGTTCTGGGGTTGGTCAGAGGGAAGTTGCCTGGGCGAGAACAAAGCCAGGCCCGGGTTCTCTGGGATGTCCATTTTAGGTTTGAGTTACAAGATTGCAGGACAAAATTAGGTGGAAGGGAACTGGAAACTAGCAGTTGGGGGGAAACTGGGATATACTGGTTGTATATAAATTAGGGTCTTCTAGGGTGGCACCCCTCCCTAAGGCTGAAATTCCCAGAACCACTGAAACTTAGAGCTGAGCTGGGAGTGGTGGCTCACGCCTGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCA
|
GCCGACAGCCCCAGTGCCTTTCAAGCCCCTGACCTCTGTGGCCCACAGTCCCAGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACCCCGAACCGCTGCCCTTTGCCCAGCCCTGGGCAGTATCCATGGTGGTGGGTGGGGCAGGGTTGACGGAAGCTGGGGTGCAGGTCCACAGTAGATGGGCTCAGGGTGCTCTAGGTGAACTTTAGGGGTCTCCCTAAATCTCCTTTAAATCCTGGCTGGACCAGGGAGAAGGCTGGGAGGAGAGGTGTCGCCTCTGCTGCATTTGGCTGGTTTGGGGGAAGTGAAAGGGGTTTTCAGTGCTGCTCCACGAAGGCCTCCTAGGCCAGGCCTTTGAATTTGCCCCCACTCCCCTGCATTTCCACCTCCCCTAGTCCAGACCCCATCCCCGGGTCCTCAGGGCAGTGAAGAAGAGTCTGGAGTCAGGATCTCGGCTTCAAGGAAAATTGCTTTATTCTGCTTCCTCCCAAGGAGCTGTTACACAGGCTCCAGCATGGGGCTTTGCTGGCACCTCCAGGGCTGAGCAGATCAAGATGTGGCAAAGCTACTCCTCATTCAAGCCCTTTTGAAAGGAAACAAAGTCCAATCAGTCCTTGGAGAGATGGTATTGGGCAGGGACAGGGCATGGGAACAAAGGTGAGAGGGGTCTGATGGTGGGGGGCCTGCTTTGTGGGCAGGTGGAAGCCCCTGTGGCAGCAGCACATGTGTTTCCAGGGATCGATGTTCGGGGGGCAAGTTCTGGAGGGTAGGGTTCTGGGGTTGGTCAGAGGGAAGTTGCCTGGGCGAGAACAAAGCCAGGCCCGGGTTCTCTGGGATGTCCATTTTAGGTTTGAGTTACAAGATTGCAGGACAAAATTAGGTGGAAGGGAACTGGAAACTAGCAGTTGGGGGGAAACTGGGATATACTGGTTGTATATAAATTAGGGTCTTCTAGGGTGGCACCCCTCCCTAAGGCTGAAATTCCCAGAACCACTGAAACTTAGAGCTGAGCTGGGAGTGGTGGCTCACGCCTGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTCTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCA
|
Task1_train_19485
|
A variant has been detected on Chromosome 14 in MYH7 (myosin heavy chain 7). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Myosin storage myopathy
|
AGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACCCCGAACCGCTGCCCTTTGCCCAGCCCTGGGCAGTATCCATGGTGGTGGGTGGGGCAGGGTTGACGGAAGCTGGGGTGCAGGTCCACAGTAGATGGGCTCAGGGTGCTCTAGGTGAACTTTAGGGGTCTCCCTAAATCTCCTTTAAATCCTGGCTGGACCAGGGAGAAGGCTGGGAGGAGAGGTGTCGCCTCTGCTGCATTTGGCTGGTTTGGGGGAAGTGAAAGGGGTTTTCAGTGCTGCTCCACGAAGGCCTCCTAGGCCAGGCCTTTGAATTTGCCCCCACTCCCCTGCATTTCCACCTCCCCTAGTCCAGACCCCATCCCCGGGTCCTCAGGGCAGTGAAGAAGAGTCTGGAGTCAGGATCTCGGCTTCAAGGAAAATTGCTTTATTCTGCTTCCTCCCAAGGAGCTGTTACACAGGCTCCAGCATGGGGCTTTGCTGGCACCTCCAGGGCTGAGCAGATCAAGATGTGGCAAAGCTACTCCTCATTCAAGCCCTTTTGAAAGGAAACAAAGTCCAATCAGTCCTTGGAGAGATGGTATTGGGCAGGGACAGGGCATGGGAACAAAGGTGAGAGGGGTCTGATGGTGGGGGGCCTGCTTTGTGGGCAGGTGGAAGCCCCTGTGGCAGCAGCACATGTGTTTCCAGGGATCGATGTTCGGGGGGCAAGTTCTGGAGGGTAGGGTTCTGGGGTTGGTCAGAGGGAAGTTGCCTGGGCGAGAACAAAGCCAGGCCCGGGTTCTCTGGGATGTCCATTTTAGGTTTGAGTTACAAGATTGCAGGACAAAATTAGGTGGAAGGGAACTGGAAACTAGCAGTTGGGGGGAAACTGGGATATACTGGTTGTATATAAATTAGGGTCTTCTAGGGTGGCACCCCTCCCTAAGGCTGAAATTCCCAGAACCACTGAAACTTAGAGCTGAGCTGGGAGTGGTGGCTCACGCCTGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCAC
|
AGGCCTGCCTAAGCAACCCAGCTGTGGCAGGAACTCCAAAGGGGCTGAACTTGTTTAGTTGGAGGAGACTTACTCTTTCCTCCACCTCCTGGCCCTCTCGGGAGCCATCCCTTCCCTCCCTCTCCCCAGAGTCCTGTTCACACATAACCTTCCCCAGCCCCTCATCTGTCTGCCTCCCCTCAAGATGGCTTGCCATAAATGGGCCAGGAGAACCCCATCTTCCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACCCCGAACCGCTGCCCTTTGCCCAGCCCTGGGCAGTATCCATGGTGGTGGGTGGGGCAGGGTTGACGGAAGCTGGGGTGCAGGTCCACAGTAGATGGGCTCAGGGTGCTCTAGGTGAACTTTAGGGGTCTCCCTAAATCTCCTTTAAATCCTGGCTGGACCAGGGAGAAGGCTGGGAGGAGAGGTGTCGCCTCTGCTGCATTTGGCTGGTTTGGGGGAAGTGAAAGGGGTTTTCAGTGCTGCTCCACGAAGGCCTCCTAGGCCAGGCCTTTGAATTTGCCCCCACTCCCCTGCATTTCCACCTCCCCTAGTCCAGACCCCATCCCCGGGTCCTCAGGGCAGTGAAGAAGAGTCTGGAGTCAGGATCTCGGCTTCAAGGAAAATTGCTTTATTCTGCTTCCTCCCAAGGAGCTGTTACACAGGCTCCAGCATGGGGCTTTGCTGGCACCTCCAGGGCTGAGCAGATCAAGATGTGGCAAAGCTACTCCTCATTCAAGCCCTTTTGAAAGGAAACAAAGTCCAATCAGTCCTTGGAGAGATGGTATTGGGCAGGGACAGGGCATGGGAACAAAGGTGAGAGGGGTCTGATGGTGGGGGGCCTGCTTTGTGGGCAGGTGGAAGCCCCTGTGGCAGCAGCACATGTGTTTCCAGGGATCGATGTTCGGGGGGCAAGTTCTGGAGGGTAGGGTTCTGGGGTTGGTCAGAGGGAAGTTGCCTGGGCGAGAACAAAGCCAGGCCCGGGTTCTCTGGGATGTCCATTTTAGGTTTGAGTTACAAGATTGCAGGACAAAATTAGGTGGAAGGGAACTGGAAACTAGCAGTTGGGGGGAAACTGGGATATACTGGTTGTATATAAATTAGGGTCTTCTAGGGTGGCACCCCTCCCTAAGGCTGAAATTCCCAGAACCACTGAAACTTAGAGCTGAGCTGGGAGTGGTGGCTCACGCCTGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGAGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCAC
|
Task1_train_19486
|
A variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Hypertrophic cardiomyopathy
|
CCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACCCCGAACCGCTGCCCTTTGCCCAGCCCTGGGCAGTATCCATGGTGGTGGGTGGGGCAGGGTTGACGGAAGCTGGGGTGCAGGTCCACAGTAGATGGGCTCAGGGTGCTCTAGGTGAACTTTAGGGGTCTCCCTAAATCTCCTTTAAATCCTGGCTGGACCAGGGAGAAGGCTGGGAGGAGAGGTGTCGCCTCTGCTGCATTTGGCTGGTTTGGGGGAAGTGAAAGGGGTTTTCAGTGCTGCTCCACGAAGGCCTCCTAGGCCAGGCCTTTGAATTTGCCCCCACTCCCCTGCATTTCCACCTCCCCTAGTCCAGACCCCATCCCCGGGTCCTCAGGGCAGTGAAGAAGAGTCTGGAGTCAGGATCTCGGCTTCAAGGAAAATTGCTTTATTCTGCTTCCTCCCAAGGAGCTGTTACACAGGCTCCAGCATGGGGCTTTGCTGGCACCTCCAGGGCTGAGCAGATCAAGATGTGGCAAAGCTACTCCTCATTCAAGCCCTTTTGAAAGGAAACAAAGTCCAATCAGTCCTTGGAGAGATGGTATTGGGCAGGGACAGGGCATGGGAACAAAGGTGAGAGGGGTCTGATGGTGGGGGGCCTGCTTTGTGGGCAGGTGGAAGCCCCTGTGGCAGCAGCACATGTGTTTCCAGGGATCGATGTTCGGGGGGCAAGTTCTGGAGGGTAGGGTTCTGGGGTTGGTCAGAGGGAAGTTGCCTGGGCGAGAACAAAGCCAGGCCCGGGTTCTCTGGGATGTCCATTTTAGGTTTGAGTTACAAGATTGCAGGACAAAATTAGGTGGAAGGGAACTGGAAACTAGCAGTTGGGGGGAAACTGGGATATACTGGTTGTATATAAATTAGGGTCTTCTAGGGTGGCACCCCTCCCTAAGGCTGAAATTCCCAGAACCACTGAAACTTAGAGCTGAGCTGGGAGTGGTGGCTCACGCCTGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTC
|
CCCACAAGCCCAGAGGACAAAGGGCTTGGTAATGGGAATTACAATGGGAAGAAATGAGTGGGAAGAAGGGAGCACCCTGGGCCAAGGGGGCTCGGCACCAGGAGGAGCTGAGGAGGACGGCAGGTGGGCTGAGGGTGTGTTTCTCCCACCTGTGGTGGGCAGGGGGTATGCTGGCTTCTGGCGGTGGCTGGAGAGGGTGGTGGCTCTATTTAAAAGGGGATGCAGGCTACAGCTGTGAATCCTTGTGTACTCTCAGAGACTCGCCTGGGACTGGCACTTAGGCAGCCATTGCCTCACCTGGCCCAGTGGTTCACACTTCTGCGGGCTCAGAAAGGGCACTGGCCAGCACCCACACCCCGAACCGCTGCCCTTTGCCCAGCCCTGGGCAGTATCCATGGTGGTGGGTGGGGCAGGGTTGACGGAAGCTGGGGTGCAGGTCCACAGTAGATGGGCTCAGGGTGCTCTAGGTGAACTTTAGGGGTCTCCCTAAATCTCCTTTAAATCCTGGCTGGACCAGGGAGAAGGCTGGGAGGAGAGGTGTCGCCTCTGCTGCATTTGGCTGGTTTGGGGGAAGTGAAAGGGGTTTTCAGTGCTGCTCCACGAAGGCCTCCTAGGCCAGGCCTTTGAATTTGCCCCCACTCCCCTGCATTTCCACCTCCCCTAGTCCAGACCCCATCCCCGGGTCCTCAGGGCAGTGAAGAAGAGTCTGGAGTCAGGATCTCGGCTTCAAGGAAAATTGCTTTATTCTGCTTCCTCCCAAGGAGCTGTTACACAGGCTCCAGCATGGGGCTTTGCTGGCACCTCCAGGGCTGAGCAGATCAAGATGTGGCAAAGCTACTCCTCATTCAAGCCCTTTTGAAAGGAAACAAAGTCCAATCAGTCCTTGGAGAGATGGTATTGGGCAGGGACAGGGCATGGGAACAAAGGTGAGAGGGGTCTGATGGTGGGGGGCCTGCTTTGTGGGCAGGTGGAAGCCCCTGTGGCAGCAGCACATGTGTTTCCAGGGATCGATGTTCGGGGGGCAAGTTCTGGAGGGTAGGGTTCTGGGGTTGGTCAGAGGGAAGTTGCCTGGGCGAGAACAAAGCCAGGCCCGGGTTCTCTGGGATGTCCATTTTAGGTTTGAGTTACAAGATTGCAGGACAAAATTAGGTGGAAGGGAACTGGAAACTAGCAGTTGGGGGGAAACTGGGATATACTGGTTGTATATAAATTAGGGTCTTCTAGGGTGGCACCCCTCCCTAAGGCTGAAATTCCCAGAACCACTGAAACTTAGAGCTGAGCTGGGAGTGGTGGCTCACGCCTGTAATCCCGTACTTTGGGAGGCTGAGGCGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTAAAATATAAAAATTAGCTAGACATGGTAGCACATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGACACCGTCTCAAAAAAAAAAAAAAAAAAAGTTAGAGCTGGAAGAATCCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCGGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTC
|
Task1_train_19487
|
Consider this mutation in LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant?
|
Pathogenic; Hypertrophic cardiomyopathy
|
CCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGA
|
CCTTGAAATCACAGAGAACTGCATTACCTTGGCCTCTGGGGCCATGTGGCTCAAGTGTGTGGAATAAATGAAAAGGAAGCATCCCGGGTTTGAGGGTGCTCTGTCTGGGTATGCCTGCTGTGGGGGTGACTAGCAAAGCCCAAAAGAGGGACCCACCTTCGTGCCAATGTCACGGCTCTTGGCCCGCAGCTTGTTGACCTGGGACTCGGCGATGTCCGCCCGCTCCTCTGCCTCATCCAGCTCGTGCTGCACCTTGCGGAACTTGGACAGGTTGGTGTTGGCTTGCTCCTCCTGCGGGAGGTGGGAGCATGAGGTGAGAGGGGGCCTGGGTTCTCAGACTCCTGGCTTGGGGGACGAGCTCTCCTATGCCTCCCCTGGGCCTAGTCCCCAGCAGGGTCACTCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCTGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGA
|
Task1_train_19488
|
This variant affects gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
|
Pathogenic; MYH7-related skeletal myopathy
|
TCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTG
|
TCACCGCCTCCTCGGCCTGGCGCTTGTAGGCCTTGACCTTTAGCTGCAGCTTGTCTACCAGGTCCTGCAGCCGCAGCAGGTTTTTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGGCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTG
|
Task1_train_19489
|
This variant lies on Chromosome 14 and affects the gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; MYH7-related skeletal myopathy
|
TTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCA
|
TTCCTGTCCTCCTCCGTCTGGGGGCCAGAGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGGGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCA
|
Task1_train_19490
|
A variant found in Chromosome 14 affects LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; MYH7-related skeletal myopathy
|
AGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCAC
|
AGGGTAGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGGCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCAC
|
Task1_train_19491
|
A variant on Chromosome 14 in gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Hypertrophic cardiomyopathy
|
AGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGC
|
AGGCAGGGGGTGAAGATGGCACAGTCATAGAAGGTAGCATCCCCTCCGCCCTGCCCTGCTTCATCTGATATCCTGACCCAATTCTACTTTCTGATCCTCACTAAACACTTGAATTCTCCTTATAATTTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCGGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGC
|
Task1_train_19492
|
Gene LOC126861897, MHRT, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654| myosin heavy chain associated RNA transcript| myosin heavy chain 7) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
|
TTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTA
|
TTCTTACCAAATATGTGTAAATATTTTAAATGATCTGTACCAGGAAAGAGTCCAAAGAACTAGTGGGACTCCTGAAATTATGCACAAAATTGTGTGTGTGCAGTGCTCCAGGGAGCAGGTTTTTCAGGGTCCGGGGACCCCATGCGGGATGAAGTCCCCTGCTCTGGACCTCGGCACATGCTGGGAGTGACTTTGGGGCTATGAGTGTGATGGAATTTCCTGGGCTGCAATGCAGGCCAGGAAAACACTGACTTAATCTAAGTTAAGGACAAAGTGTGCTTAGAGAGATAGTGACATCCTGGATTGGAAAAGAAACAAATTCTAATTCAGAGTCTGATTCTAGAAAACACCTCAGAAAGCTAGAGTCCACACTGCCCTGGGCAATGAAAAAGTTTTTATGCTTGTTTGAATGGGATGGGTGTGTTTTTGGTGTCTTTTGGGGGTGACCCTGGCTACATATTTGCTTTCTGGTGAGCTGTACTGGGTGAGCTTTGTCTGGAATTCTGTGTGTGTCCCCTGGCGATGGGCTAAGAGTGGGTGTTGAGATGGAGCTCCCAGGCCAGGAGGCTCAGAGACTGACCTCTGAGCTAGGGGACATTCAGAGTGGGGCAGGGCTAGGCAAAGTGAAACGGGGGCTGCATTCCCATCCTCGCCCTGGAAGAGGCTAAGAGCAAACTCTTCATTCTCCTCAGCTGGTTGTCACTGTGGCTATGGTGCCAGGGCTCTGCCTGGAGTCACCGCCCGTCGCACCTGGTAGGTGAGCTCCTTGATGCGCCGCTCGCTCTTCCTCATGCCCTTCACCGACTCTGCGTTGCGCTTCTGCTCGGCCTCCAGCTCATTCTCCAGCTCCCGCACCCGCGCTTCCAGCTTCTGCAGCTGCTTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCCCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTA
|
Task1_train_19493
|
This alteration occurs within gene MHRT, MYH7 (myosin heavy chain associated RNA transcript| myosin heavy chain 7) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Hypertrophic cardiomyopathy
|
TTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCT
|
TTCTTGCCGCCCTTGAGGGCGATCTGCTCGGCTTCGTCCAGCCGGTGCTGCAGGTCCTTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCGGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCT
|
Task1_train_19494
|
Mutation context: Chromosome 14, Gene MHRT, MYH7 (myosin heavy chain associated RNA transcript| myosin heavy chain 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; MYH7-related skeletal myopathy
|
TTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCA
|
TTAATGGTCTGTTCCATGTTCTTCTTCATGCGCTCCAGGTGGGCGCTGGTGTCCTGCTCCTTCTTCAGCTCCTCTGCCATCATGGCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGGGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCA
|
Task1_train_19495
|
Here is a mutation in MHRT, MYH7 (myosin heavy chain associated RNA transcript| myosin heavy chain 7) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Hypertrophic cardiomyopathy
|
GCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCC
|
GCGGCCTGTGTGCAGGAGAGAGGTGGCACATGGTCTGGTCAAGTCCTCACACACTTGCTGCCCAGCCCACGGAGAGACACTGGTCTGGATCGGGTCGGTGGAGTGGGGGACTTACATCCGTGATGGCCTTCTTGGCCTTCTCCTCAGCATTCCTGCACTCCTGCACTGCCTCCTCCACTTCAGTCTGGAGCTGGGACAGGTCAGCATCCATCTTCTTCTTCTGGTTGATGAGGCTGGTGTTCTGGGTTGGGGGAGGGTTGGGCAGAGCAGGAAAAGCATTGAGCATCTATGCATAGCTCTCAAGCCTTGCTTGCTGAGCCCCAGCCTGTGCTCCCTTCAGGAATGAGCAGGGGAGCTGCTCACCTGGGAATGCAGCAGCTGCACCCGCTCACTAGTCTCAATCAGCTCCTGCTCCGCCAGCTTCCGGGACCGCTCTGTCTGCTCCACCACGGCACGCAACTCCTCCAGCTCAGCCTGCAGCAGGTTGTTGCGCCGCTCCACGATGGCGATGTTCTCCTTCAGGTCGTCGTTGGCACGGACTGCATCGTCCAGCTGAATCTGGGTGTCCTGAGGATCAGGAGAGTGGGCATGAGCAGGGAGCCAGCCTCGGTTCCCTTCACTAAAGGCACCTGTCAGAGGTCCCTGCAGTAACCTAGGGGCAGGAGGAATCTGGTGCCTGTATCAAGACACTACTGCTTCGCCAGGCCACGTGGAGGCCAGTCCCCTCTGGGTGAGTACCTTCAACAAGCTCTGGAGGCTCTTGACTTGCTTCTGGGCCTCGGCGGCCATGCGGTTGGCGTGGCTGAGCTGGATCTCCATCTCATTGAGGTCTCCTTCCATCTTCTTCTTCACCCTCAGGGCCTCGTTGCGGCTGCGTGTCTCTGCGTCCAGGGAGGTCTGCAGCGAGTCCACCACCCGCAGGTGGTTGCGCTTGGCCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCGGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCC
|
Task1_train_19496
|
Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance.
|
Pathogenic; Hypertrophic cardiomyopathy
|
CCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCCCCATTTTCTGGAGAGACTCTGTGTCTGTGTGTGCGTGTATTGGCTTGTGCCCGAGGCTGGAGTGGCTCAGGAGGTTGGGGAGACTGTGGTGGGAACCATGGAGCCCCTGCTCTAGGCTCACCATTCTCGGTTTGCAACTTGGCCCGCTGGCTGGTGAGGTCGTTGACAGAACGCTGGGTCTCCTCCGCCTTGCTCCGGTGCTCATTCATCTGGTCTTCCAAGGTCCGGCACATCTTCTCCAGGTTAGCCTGAGAAGGGAAGGAGAGTTATATGATGGATGTTGGGGGCGGGGGGAATGAAGGGGTGTAAGAGGTGCAACTGAAGGAGAAAAGAAGAGGGAAGGTGTGAAAAGAAGGAGGGGATCTGAGAACCAGGCAGAGGAAGGGAAGTGGGAAAATGAACCATGAAGGAAGAGACACTACATGGACAGAAAGGGGAGGTGGGAGGAGGAAGTTGGAGGAGGGGAGGCCGAGCAGAGCCTGCCTTGGCCTTGATGATCTGCTCCATGTTGGAGGTGACGTCATCCAGCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTCACCCGCTGCAGGTTGTCGATCTGCTCGCCCAGCTCGGCCACGCTGTCGGCGTGCTTCTTGCGCAGGGCCGCGGCAGTGGCCTCGTGCTGCAGCGTGGCCTCCTCCAGGTCCCGCCGCATCTTCTGGAACTCGGCCTCGCGCTTCTTGTTCATCTCGATCTGCACGGACGTGGCCCCGCCGGCCTCTTCCAGCCGCTCGCTGATCTCCTCCAGCTCCCGAGACAGGTCTGAGCGCAGCTTCTCCACCTTAGCCCTGGCGGTGCGCTCGGCCTCCAGCTCCTCCTCCAGCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCT
|
CCTGTTCCATCTCCTCGTCCTTCTCTGCCAGCTTCCGCTCGATCTCTGCCTTGATCTGGTTGAACTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCATCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCCCCATTTTCTGGAGAGACTCTGTGTCTGTGTGTGCGTGTATTGGCTTGTGCCCGAGGCTGGAGTGGCTCAGGAGGTTGGGGAGACTGTGGTGGGAACCATGGAGCCCCTGCTCTAGGCTCACCATTCTCGGTTTGCAACTTGGCCCGCTGGCTGGTGAGGTCGTTGACAGAACGCTGGGTCTCCTCCGCCTTGCTCCGGTGCTCATTCATCTGGTCTTCCAAGGTCCGGCACATCTTCTCCAGGTTAGCCTGAGAAGGGAAGGAGAGTTATATGATGGATGTTGGGGGCGGGGGGAATGAAGGGGTGTAAGAGGTGCAACTGAAGGAGAAAAGAAGAGGGAAGGTGTGAAAAGAAGGAGGGGATCTGAGAACCAGGCAGAGGAAGGGAAGTGGGAAAATGAACCATGAAGGAAGAGACACTACATGGACAGAAAGGGGAGGTGGGAGGAGGAAGTTGGAGGAGGGGAGGCCGAGCAGAGCCTGCCTTGGCCTTGATGATCTGCTCCATGTTGGAGGTGACGTCATCCAGCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTCACCCGCTGCAGGTTGTCGATCTGCTCGCCCAGCTCGGCCACGCTGTCGGCGTGCTTCTTGCGCAGGGCCGCGGCAGTGGCCTCGTGCTGCAGCGTGGCCTCCTCCAGGTCCCGCCGCATCTTCTGGAACTCGGCCTCGCGCTTCTTGTTCATCTCGATCTGCACGGACGTGGCCCCGCCGGCCTCTTCCAGCCGCTCGCTGATCTCCTCCAGCTCCCGAGACAGGTCTGAGCGCAGCTTCTCCACCTTAGCCCTGGCGGTGCGCTCGGCCTCCAGCTCCTCCTCCAGCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCT
|
Task1_train_19497
|
The variant affects gene MYH7 (myosin heavy chain 7), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Hypertrophic cardiomyopathy
|
CTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCCCCATTTTCTGGAGAGACTCTGTGTCTGTGTGTGCGTGTATTGGCTTGTGCCCGAGGCTGGAGTGGCTCAGGAGGTTGGGGAGACTGTGGTGGGAACCATGGAGCCCCTGCTCTAGGCTCACCATTCTCGGTTTGCAACTTGGCCCGCTGGCTGGTGAGGTCGTTGACAGAACGCTGGGTCTCCTCCGCCTTGCTCCGGTGCTCATTCATCTGGTCTTCCAAGGTCCGGCACATCTTCTCCAGGTTAGCCTGAGAAGGGAAGGAGAGTTATATGATGGATGTTGGGGGCGGGGGGAATGAAGGGGTGTAAGAGGTGCAACTGAAGGAGAAAAGAAGAGGGAAGGTGTGAAAAGAAGGAGGGGATCTGAGAACCAGGCAGAGGAAGGGAAGTGGGAAAATGAACCATGAAGGAAGAGACACTACATGGACAGAAAGGGGAGGTGGGAGGAGGAAGTTGGAGGAGGGGAGGCCGAGCAGAGCCTGCCTTGGCCTTGATGATCTGCTCCATGTTGGAGGTGACGTCATCCAGCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTCACCCGCTGCAGGTTGTCGATCTGCTCGCCCAGCTCGGCCACGCTGTCGGCGTGCTTCTTGCGCAGGGCCGCGGCAGTGGCCTCGTGCTGCAGCGTGGCCTCCTCCAGGTCCCGCCGCATCTTCTGGAACTCGGCCTCGCGCTTCTTGTTCATCTCGATCTGCACGGACGTGGCCCCGCCGGCCTCTTCCAGCCGCTCGCTGATCTCCTCCAGCTCCCGAGACAGGTCTGAGCGCAGCTTCTCCACCTTAGCCCTGGCGGTGCGCTCGGCCTCCAGCTCCTCCTCCAGCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGA
|
CTCCAGCTGGGCCCGGAGGATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTTGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCCCCATTTTCTGGAGAGACTCTGTGTCTGTGTGTGCGTGTATTGGCTTGTGCCCGAGGCTGGAGTGGCTCAGGAGGTTGGGGAGACTGTGGTGGGAACCATGGAGCCCCTGCTCTAGGCTCACCATTCTCGGTTTGCAACTTGGCCCGCTGGCTGGTGAGGTCGTTGACAGAACGCTGGGTCTCCTCCGCCTTGCTCCGGTGCTCATTCATCTGGTCTTCCAAGGTCCGGCACATCTTCTCCAGGTTAGCCTGAGAAGGGAAGGAGAGTTATATGATGGATGTTGGGGGCGGGGGGAATGAAGGGGTGTAAGAGGTGCAACTGAAGGAGAAAAGAAGAGGGAAGGTGTGAAAAGAAGGAGGGGATCTGAGAACCAGGCAGAGGAAGGGAAGTGGGAAAATGAACCATGAAGGAAGAGACACTACATGGACAGAAAGGGGAGGTGGGAGGAGGAAGTTGGAGGAGGGGAGGCCGAGCAGAGCCTGCCTTGGCCTTGATGATCTGCTCCATGTTGGAGGTGACGTCATCCAGCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTCACCCGCTGCAGGTTGTCGATCTGCTCGCCCAGCTCGGCCACGCTGTCGGCGTGCTTCTTGCGCAGGGCCGCGGCAGTGGCCTCGTGCTGCAGCGTGGCCTCCTCCAGGTCCCGCCGCATCTTCTGGAACTCGGCCTCGCGCTTCTTGTTCATCTCGATCTGCACGGACGTGGCCCCGCCGGCCTCTTCCAGCCGCTCGCTGATCTCCTCCAGCTCCCGAGACAGGTCTGAGCGCAGCTTCTCCACCTTAGCCCTGGCGGTGCGCTCGGCCTCCAGCTCCTCCTCCAGCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGA
|
Task1_train_19498
|
A variant has been detected on Chromosome 14 in MYH7 (myosin heavy chain 7). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Hypertrophic cardiomyopathy
|
GATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTCCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCCCCATTTTCTGGAGAGACTCTGTGTCTGTGTGTGCGTGTATTGGCTTGTGCCCGAGGCTGGAGTGGCTCAGGAGGTTGGGGAGACTGTGGTGGGAACCATGGAGCCCCTGCTCTAGGCTCACCATTCTCGGTTTGCAACTTGGCCCGCTGGCTGGTGAGGTCGTTGACAGAACGCTGGGTCTCCTCCGCCTTGCTCCGGTGCTCATTCATCTGGTCTTCCAAGGTCCGGCACATCTTCTCCAGGTTAGCCTGAGAAGGGAAGGAGAGTTATATGATGGATGTTGGGGGCGGGGGGAATGAAGGGGTGTAAGAGGTGCAACTGAAGGAGAAAAGAAGAGGGAAGGTGTGAAAAGAAGGAGGGGATCTGAGAACCAGGCAGAGGAAGGGAAGTGGGAAAATGAACCATGAAGGAAGAGACACTACATGGACAGAAAGGGGAGGTGGGAGGAGGAAGTTGGAGGAGGGGAGGCCGAGCAGAGCCTGCCTTGGCCTTGATGATCTGCTCCATGTTGGAGGTGACGTCATCCAGCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTCACCCGCTGCAGGTTGTCGATCTGCTCGCCCAGCTCGGCCACGCTGTCGGCGTGCTTCTTGCGCAGGGCCGCGGCAGTGGCCTCGTGCTGCAGCGTGGCCTCCTCCAGGTCCCGCCGCATCTTCTGGAACTCGGCCTCGCGCTTCTTGTTCATCTCGATCTGCACGGACGTGGCCCCGCCGGCCTCTTCCAGCCGCTCGCTGATCTCCTCCAGCTCCCGAGACAGGTCTGAGCGCAGCTTCTCCACCTTAGCCCTGGCGGTGCGCTCGGCCTCCAGCTCCTCCTCCAGCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAA
|
GATCTTGCCCTCCTCGTGCTCCAGGGAGGCCTGGGAAGGGGTTGGGGGAGGGGATGCAGGCAGACAGTCAGGGCACAGGGCAGGGTGGGGGCCTGCTCACTAATCATGGATACGAAGTGACTTCAAGAGTGGTGTAAGTGGTTCAAAGAAGCAGAAGGTGGAGGAAAAGAGAATCTAAGAGAAAATAAAAATAAGCCTAAGAGAAAGTGATTCAGGCCCTCACAGGGGAGAGCCAGCTATGAAGACAAGGAGGAAAATGAAGAGAAAAGTGTTGCCAAGGAAACAGAGGCAATCAGGTATAGAGTATAAAAGAAAACAGAGGGAGGCAGAGGTGGGAACCGGGAGGTATGTGGAAATGGGAAGCTCAGCTAAGATGCAATGGGTAAAATGTTTATGTGAAGAGAGTTCAGTGACTGGTCATTCATTCACTCCACAAATCTTCACTGAATGCCTACTATGTGCCAGGCTCTGTCCTAGGCTCTGGGGATGGGACAGTGAACAAAACGGACAAAGCGGGGGATGAGAACAGGGACCAAAAGCCTGGAGCTCAGCTCCCTGCACCCCGTGCCCTGCACACACACACACCTCGGCCTCCTCCAGGGCTGACTGCAGCTCCATCTTCTCGGCCTCCAGCTGCTTTCGGACCTTCTCCAGCTCATGGATAGTCTTTCCGCTGGAACCCAACTGCTCAGTCAAGTCGGAGATCTCCTCTGTGTGGGGAACACGGTAACTCGGTTGAGGGCTGCTGAGGTCCAGTGGAGTTGGAGGGACACGCCTCTTTGCCCAGACGCCTCTTGGAGCCCTTGGGTGGCACCATATGGGAACACTGCCAGTGCAGCCCCTCCCCAGCCTCTTGGGCCCCCAGCACACCCTGCAGGTTTTTGTTCTCCCGCTTGAAGGTCTCCAGATGTTCCAGGGACTCCTCATAGGCGTTCTTGAGTTTGAAGAGCTCTGTGCTGAGGGAGCGAGCCTCCTTCTGCGAGGACTCCAGCTCCGACTGCGACTCCTCATACTTCTGCTTCCACTCGGCCAGGATCTGCCCGGGGACAAGGCTCACTCTTCAGCCCCCCAGCCTCAGCCCCATGTCCAGGGTCTGTCTCAGGACCTGCCTGGGCTCAGCCCTCCTCCCCCACCTCCAAGGAGGATGGCTCTGGCCTCTCACTGAACCCCTCATGCCCCCTTGCCCTGCATGCTGGCTGCGGCCCCCACCCAGGGCCCACCTTGTCGAAGTTCCTCTGCTTCTTGTCCAGGGCTGCAGCAGCAGCATTGGAGCGCTCTACGTCCACCATCAAGTCCTCGATCTCATTCTGTAGCCGGTGCTTGGTCTTCTCCAGCGAGGAGCACTTGGCATTAACAGCCTCCACGGCCTCCTCAGCTTCCTGCAGCCGCTGGGCCAGCTTCTTCCTGCCCAGGGGAGGGTGGCAGAGGGTGGGGAGGATGGAGGGTGTGGATGGGGACAAGAGGAAACAACATGAACCTTCTCAAAGACAATCCTTGAAACCTCAGAAGTGTAGCTGGAGAAGCCTGAGGACAGGTCCCAGGGGCCGAGAACATCAGGCAGAGGATCCCAGCAGGGCGTGGAGACCCAGGCACCCTCTGACCCTGGCCCAGCCTCTGCGCTATGGACATTGAGGAGGTATGGGCTTCTGCAGCCCTCCCCACTGCCTTTCCCTGCCACAGTGCCCTGCCCCAGACGGAAGCACTCTGCCCTCAGACAAACCTTTTGTTCGTCTTATATTCGGATCAGAAACATAATTCGAGCAAAAAGCTTCCCTGAGAGGAGAAGGAGGTGGGGCCGGGGCAGAGTCCTCCTGTGTTGTCAAACACTAGCTAAGCATCGCCTGTGTGGGATCTGCTGAGGCTGGGGCTGGGCTGAGTCCTGCCTGCAAAGGGGCCTCAGCCAGAAGTCAGGCTGCTCAGAACTCACTTGGCCTCCTCGAGCTCCTCAGTCCGCTGAATGGCGTCCGTCTCATACTTGGTCCTCCACTGGGCCACCTCCGAGTTGGCCTTGGAAAGGACGCGCTGCAGCTCGGCCTTGGCCTCCGTCTTCTCCTCGTACTGCTCCCGCAGCAGGTCGCAGTCATGCCGGGCCGACTGCAGTGCGTGGGCCAGGGCGTTCTTCGCCTGGGGAGGGGTGGGCACCAGGAGGTGGGTTCAGCTTTCTCCATAAAGCAACCCCACCCTTGCCCTTCTCCTCACCCCAATCTCAACATCATCCCTTGGCCTCATCTATGTCCAAACCCCCAGTGGACCTGTCATGGTTTACTGTTTGCTGATAACAAAGAATGCCAATACAGCAGTGAACTATTTAAGAAAAGCTTCATGGCCATTGGCCCTGAGCTCCTCCCCACACCAGACATGGTCATCATCACCGCCATTTTACCTGGCTGGGGAGAGGGAAACAGGCTCAGAAAGGTTAGGGGACTTCCCTAACCTAAGATCACTGAGCTATAAGAGGCAGGTTAGTATGAACCCTGGAGTTTTTTAAAAATCATGTTCTTTCTCCTTTTTCATGAGTCCAGCAAAGTGCTAGGAATAGGCTCCAGTTGAATTTCTTTCTCCAGTTTTCAGGTGGCCCTGCAAATCCCAGGACCCATTTGTGCAGTCCCTACATCCCCTAGCCGTGCCCGGGCAAGGCCATCTCGTGCCTCCCTAGTTCATTTTCTCTCCTCCTTCTCACACCCTGCCTCCCGTCCAGGGATGCAGCAGAAGCAGAGGGCCTCAGCCTGGGGAGTAGATGGCATGTGGCAGGGTTTGGGCTGTGATTTCTTTTTAGAATTCTTGGAGAACTGTTGGTCCACAGCCAGCCTTATTGCTGGGAAGGGAAGTGATTTGATGCAAGGCTAGTCAGTGTGCTCCTTGCTTGGGCCAGGTGGCCCGAGTCTAGCCCTTACCTTAACCTCCTCCTCCAGCTGCCTCTTGAGGTCCTCCAGCTGCTGGGTGTAGGTGAGCTTGCCTCGGGTCAGCTGGGAGATCAGTGCCTCCTTCTCATCCAGCTGCCGGGACAGCTCACCTGGGGAAGCACCATTCTAGATCAGCACTCCTCTCTATCCCCACCTCCTCCTCTAGCCCTCAGGCCCCATTTTCTGGAGAGACTCTGTGTCTGTGTGTGCGTGTATTGGCTTGTGCCCGAGGCTGGAGTGGCTCAGGAGGTTGGGGAGACTGTGGTGGGAACCATGGAGCCCCTGCTCTAGGCTCACCATTCTCGGTTTGCAACTTGGCCCGCTGGCTGGTGAGGTCGTTGACAGAACGCTGGGTCTCCTCCGCCTTGCTCCGGTGCTCATTCATCTGGTCTTCCAAGGTCCGGCACATCTTCTCCAGGTTAGCCTGAGAAGGGAAGGAGAGTTATATGATGGATGTTGGGGGCGGGGGGAATGAAGGGGTGTAAGAGGTGCAACTGAAGGAGAAAAGAAGAGGGAAGGTGTGAAAAGAAGGAGGGGATCTGAGAACCAGGCAGAGGAAGGGAAGTGGGAAAATGAACCATGAAGGAAGAGACACTACATGGACAGAAAGGGGAGGTGGGAGGAGGAAGTTGGAGGAGGGGAGGCCGAGCAGAGCCTGCCTTGGCCTTGATGATCTGCTCCATGTTGGAGGTGACGTCATCCAGCTCCAGCTTGAACTCGCTCTTCTCCTTCTCCAGCTTCTGCTTCACCCGCTGCAGGTTGTCGATCTGCTCGCCCAGCTCGGCCACGCTGTCGGCGTGCTTCTTGCGCAGGGCCGCGGCAGTGGCCTCGTGCTGCAGCGTGGCCTCCTCCAGGTCCCGCCGCATCTTCTGGAACTCGGCCTCGCGCTTCTTGTTCATCTCGATCTGCACGGACGTGGCCCCGCCGGCCTCTTCCAGCCGCTCGCTGATCTCCTCCAGCTCCCGAGACAGGTCTGAGCGCAGCTTCTCCACCTTAGCCCTGGCGGTGCGCTCGGCCTCCAGCTCCTCCTCCAGCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAA
|
Task1_train_19499
|
This variant affects gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Hypertrophic cardiomyopathy
|
GCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAAGATAGTTTGAAGAGCCTTCCTTTAGGCGAGGGCCTGACAGTCTACATGCTCTTTATTGGAAGGAAAGTGGTTGAAACTTGCTCTTAAAGATGGACAAAGAGACCTGTGTTCTGGGGATATTTTAAGCAGTTTAGTCATAAAAAAATAACAAAAGTTGAAAATGAGAGAGCCGTATTTGTCTGACCAGACAACTAAAGACCTAACACAGCTTCTGCTCTAGAGTAAGGAGGAAAGTCATGCCATCAGAGTCGAAGGACTCTTAAAAACCTCCATGTAACAGGGGAGGGCATGGAGACCCAGAGATCTGGAGTGGGCTCCCAGAGGTCACCCAACTAAGGCAGAGCTGAGACAGGAAGCCAGGAATTCTGCCCTCCAGGCCTGTGACCTTTTCAGGGTCTCTGTGGATCACCTGACCCCTTTTGGATGTATCCATGGGCACACTGTGATAGCTGCGTGCCTGCCTCCATGGACACATAATCAGTTCCTGTAATGCTGTGAACAGGACACCCTAGAGGAGGGGGCAGGGGAAACAGAACCAGCCCAGGGACTCAGCATCCCGCGTGGGTGTCCAGACCTCACCTGAAGCTCCTTGAGCTTCTTCTGCAGCTGGCTGCCGAGGGCCTGTTCATCCTCAATCCTTGCGTTGAGAGCATTCAGCTCAAAGTCTTTTCTGTGGGGAAGGAGGGATGGTGAGGTAAGGGAGACTCGTGGGGCCTCAGGAGGGTCCACCAGTGGTTGAAAATGGTAATGATACAGGTAAAGAGTAGGATTTCATTAGAAAAACAGCTTCTGGGGGTGATGTAGGATCCCTGGAAGTGTAACACCTGCGGTGAGATTGAAATCCAACAAGAATGTAATGGGAGGAGTGCTGTAGACAGGGTGATGGGGCCTGGGCTCTACAGGACATTCCCATCTTTGGTCCTTGTTTTCTCATAATGTAAAATGAGGGGGTCGGACTAGATTGTTTCAAAGGTCCTTTTTAGCTCTGATGGTCTTTAATTTTGTCACTATTGCTTTGGGTAACTCAGCTAACCTTTCTGAAACTTATTTTCCTCTTTGGTAAAGTGAAATTAAAGATACCATCCTTAAAAGGTGTTTTGAGAATCAAATAGGATCGTGTATTTATTCATTTATTCAACACATTCTGTGCCTGGGAAGGTATGAAGATTCCTGTGCAAACACAAACTTGATGAGGATGTAGATTATGATGATTCTCAAAGCCTTTCAAAGTCCTGAGCCTGAAACACCATAAGACCTTCAATTATCAAAATATGTTCTGCAAGCTCACTGTTTACCAAGTCTGGAAAGTCTATACATTTTGGAAGAACTTACACTAAGAATTGGAACCACAAGTTAAGCAAAACAAAGAAATGGCCCTGATCCCCTGACTTCTTTAATGTGAGGGCATTTCTTGGTGCCCTGTGGGCTCTCTGTGAAAAGCCACAAAGGGACTTTCCTAAGAGGCTCTCATGTGGAGCCTTCCTCCATGTCAAGGAACTGGTCTCCAAAGAGAGATGTGTATGAAGGGGGAAGGCTGTTATTTTCATTCCCACTGAGTGCCTAACAAGAAGAAAGGACTCATGGGATACAATGGACTTTTTGCCAGGGAGGACCATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTAT
|
GCTCCTCGATGCGTGCCTGGTCAGACACAAAGGGCTCAGACCCACCGCCTGGACCCCTCCACTGGAATCCCCCCGGCTCTAAAAGGCTCTCGGCTTCTCTGGAACAGCAAGTCAGTTTAGCTCTTCCAGTGGAGAGGTGGGAATTAAAGGATTTGGGGAAGATAGTTTGAAGAGCCTTCCTTTAGGCGAGGGCCTGACAGTCTACATGCTCTTTATTGGAAGGAAAGTGGTTGAAACTTGCTCTTAAAGATGGACAAAGAGACCTGTGTTCTGGGGATATTTTAAGCAGTTTAGTCATAAAAAAATAACAAAAGTTGAAAATGAGAGAGCCGTATTTGTCTGACCAGACAACTAAAGACCTAACACAGCTTCTGCTCTAGAGTAAGGAGGAAAGTCATGCCATCAGAGTCGAAGGACTCTTAAAAACCTCCATGTAACAGGGGAGGGCATGGAGACCCAGAGATCTGGAGTGGGCTCCCAGAGGTCACCCAACTAAGGCAGAGCTGAGACAGGAAGCCAGGAATTCTGCCCTCCAGGCCTGTGACCTTTTCAGGGTCTCTGTGGATCACCTGACCCCTTTTGGATGTATCCATGGGCACACTGTGATAGCTGCGTGCCTGCCTCCATGGACACATAATCAGTTCCTGTAATGCTGTGAACAGGACACCCTAGAGGAGGGGGCAGGGGAAACAGAACCAGCCCAGGGACTCAGCATCCCGCGTGGGTGTCCAGACCTCACCTGAAGCTCCTTGAGCTTCTTCTGCAGCTGGCTGCCGAGGGCCTGTTCATCCTCAATCCTTGCGTTGAGAGCATTCAGCTCAAAGTCTTTTCTGTGGGGAAGGAGGGATGGTGAGGTAAGGGAGACTCGTGGGGCCTCAGGAGGGTCCACCAGTGGTTGAAAATGGTAATGATACAGGTAAAGAGTAGGATTTCATTAGAAAAACAGCTTCTGGGGGTGATGTAGGATCCCTGGAAGTGTAACACCTGCGGTGAGATTGAAATCCAACAAGAATGTAATGGGAGGAGTGCTGTAGACAGGGTGATGGGGCCTGGGCTCTACAGGACATTCCCATCTTTGGTCCTTGTTTTCTCATAATGTAAAATGAGGGGGTCGGACTAGATTGTTTCAAAGGTCCTTTTTAGCTCTGATGGTCTTTAATTTTGTCACTATTGCTTTGGGTAACTCAGCTAACCTTTCTGAAACTTATTTTCCTCTTTGGTAAAGTGAAATTAAAGATACCATCCTTAAAAGGTGTTTTGAGAATCAAATAGGATCGTGTATTTATTCATTTATTCAACACATTCTGTGCCTGGGAAGGTATGAAGATTCCTGTGCAAACACAAACTTGATGAGGATGTAGATTATGATGATTCTCAAAGCCTTTCAAAGTCCTGAGCCTGAAACACCATAAGACCTTCAATTATCAAAATATGTTCTGCAAGCTCACTGTTTACCAAGTCTGGAAAGTCTATACATTTTGGAAGAACTTACACTAAGAATTGGAACCACAAGTTAAGCAAAACAAAGAAATGGCCCTGATCCCCTGACTTCTTTAATGTGAGGGCATTTCTTGGTGCCCTGTGGGCTCTCTGTGAAAAGCCACAAAGGGACTTTCCTAAGAGGCTCTCATGTGGAGCCTTCCTCCATGTCAAGGAACTGGTCTCCAAAGAGAGATGTGTATGAAGGGGGAAGGCTGTTATTTTCATTCCCACTGAGTGCCTAACAAGAAGAAAGGACTCATGGGATACAATGGACTTTTTGCCAGGGAGGACCATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCTGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTAT
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.