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_24300 | This gene mutation involves KRT14 (keratin 14) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermolysis bullosa simplex | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTCGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG |
Task1_train_24301 | Here is a variant affecting KRT14 (keratin 14) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG | TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTGGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG |
Task1_train_24302 | This alteration in KRT14 (keratin 14) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGAGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA |
Task1_train_24303 | Consider a variant on Chromosome 17 in gene KRT14 (keratin 14). Determine its clinical classification and disease relevance. | Pathogenic; Dermatopathia pigmentosa reticularis | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA | CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGTGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA |
Task1_train_24304 | Given this variant in gene KRT14 (keratin 14) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA |
Task1_train_24305 | A mutation found in KRT14 (keratin 14) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Epidermolysis bullosa simplex, Koebner type | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA |
Task1_train_24306 | This mutation is located in gene KRT14 (keratin 14) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA |
Task1_train_24307 | Gene KRT14 (keratin 14) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa simplex | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA |
Task1_train_24308 | Gene KRT14 (keratin 14) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa simplex, Koebner type | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA |
Task1_train_24309 | Here is a variant affecting KRT14 (keratin 14) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA | CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA |
Task1_train_24310 | A genetic alteration is present in KRT14 (keratin 14) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | ATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTG | ATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTG |
Task1_train_24311 | A variant was discovered in gene KRT14 (keratin 14), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAG | CCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAAGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAG |
Task1_train_24312 | Here is a mutation in KRT14 (keratin 14) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGA | GAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGTATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGA |
Task1_train_24313 | Consider this mutation in KRT14 (keratin 14) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGAC | AAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCGTGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGAC |
Task1_train_24314 | A mutation in KRT16 (keratin 16), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AGAAAAAGCAGGGCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCT | AGAAAAAGCAGGGCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCGGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCT |
Task1_train_24315 | Consider a variant on Chromosome 17 in gene KRT16 (keratin 16). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCGGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC |
Task1_train_24316 | This variant affects the gene KRT16 (keratin 16) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pachyonychia congenita 1 | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC | GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCTGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC |
Task1_train_24317 | Gene KRT16 (keratin 16) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pachyonychia congenita 1 | GTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCG | GTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGGGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCG |
Task1_train_24318 | A mutation on Chromosome 17 affecting KRT16 (keratin 16) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pachyonychia congenita 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG |
Task1_train_24319 | A variant found in Chromosome 17 affects KRT16 (keratin 16). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG |
Task1_train_24320 | The following genetic variant occurs in KRT16 (keratin 16) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pachyonychia congenita 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG |
Task1_train_24321 | Chromosome 17 houses a mutation in gene KRT16 (keratin 16). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1 | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG |
Task1_train_24322 | Gene KRT16 (keratin 16) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; KRT16-related disorder | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG | TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG |
Task1_train_24323 | A variant was discovered on Chromosome 17, affecting KRT16 (keratin 16). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pachyonychia congenita 1 | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG |
Task1_train_24324 | Here is a variant affecting KRT16 (keratin 16) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1 | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG | TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG |
Task1_train_24325 | A mutation on Chromosome 17 affecting KRT16 (keratin 16) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGG | GTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATCGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGG |
Task1_train_24326 | A change on Chromosome 17 affects gene KRT16 (keratin 16). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pachyonychia congenita 1 | GCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCC | GCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGCGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCC |
Task1_train_24327 | This variant affects gene KRT16 (keratin 16) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Pachyonychia congenita 1 | AGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGC | AGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCGGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGC |
Task1_train_24328 | This mutation is located in gene KRT16 (keratin 16) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGCCTT | AGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCCTGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGCCTT |
Task1_train_24329 | The variant affects gene KRT17 (keratin 17), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GAGGTTCCTTGTGTACAGAGAAGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAA | GAGGTTCCTTGTGTACAGAGAAGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTCGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAA |
Task1_train_24330 | A genomic change on Chromosome 17 affects KRT17 (keratin 17). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pachyonychia congenita 2 | AGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAAT | AGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCATCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAAT |
Task1_train_24331 | This variant affects the gene KRT17 (keratin 17) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCA | GGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCGGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCA |
Task1_train_24332 | Given this variant in gene KRT17 (keratin 17) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pachyonychia congenita 2 | CAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTC | CAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTCGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTC |
Task1_train_24333 | This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCGGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC |
Task1_train_24334 | A variant has been detected on Chromosome 17 in KRT17 (keratin 17). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pachyonychia congenita 2 | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC | AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCTGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC |
Task1_train_24335 | Gene KRT17 (keratin 17) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pachyonychia congenita 2 | CTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCT | CTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGGGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCT |
Task1_train_24336 | Gene KRT17 (keratin 17), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Steatocystoma multiplex | TGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTC | TGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTC |
Task1_train_24337 | A variant affecting Chromosome 17, within the gene KRT17 (keratin 17), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pachyonychia congenita 2 | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC |
Task1_train_24338 | This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Abnormality of the skin | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC |
Task1_train_24339 | Given this context: Chromosome 17, gene KRT17 (keratin 17) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Steatocystoma multiplex | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC |
Task1_train_24340 | The gene KRT17 (keratin 17), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pachyonychia congenita 2 | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC | TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC |
Task1_train_24341 | A variant was discovered on Chromosome 17, affecting KRT17 (keratin 17). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATCGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA |
Task1_train_24342 | A variant on Chromosome 17 in gene KRT17 (keratin 17) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Steatocystoma multiplex | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA | GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATGGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA |
Task1_train_24343 | This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pachyonychia congenita 2 | CCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCACACTGCCCCAA | CCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCGTGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCACACTGCCCCAA |
Task1_train_24344 | This sequence variant lies in KLHL10 (kelch like family member 10) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Spermatogenic failure 11 | GCCTGTAATCCCAGCTACTCGGGAATCTGAGGCAGGAGAATAACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCCAGATCGCACCATTGCACTCCAGCTGGGCGACAGAGAGAGACTTGGTCTCAAATTAACAAAAAAAAAAAAAAAAATCTTAAGTATTGCACACAATTGTTGTCAGTTGGTGCTAATAAGCGTTATTTTACATATTAAGACATACTCAATTACTGAACAATTACCATGGTTTTTCTTGGTCTAATAGTACTGACCACTAACCAAGGAATGGGATTGCTCTCTGGCCACTTGAGGTGCCTTCTATCTAGCTCATTCTCAGCTTCCAAATGTATATATCACCTCCCCATAAATAAATAGTAAATAAATATTTATTATTTATTTATTTATTTTGAGAAGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCGCGGCTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGGCTCCCCAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTAGCGCCCGGCTGACAACTATTTATTTATTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCTGTGGTGTGATCACAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCACACCTTAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGGCACCATGCCTGGCTAATTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGTGGTAGCACGATCTCGGCTCACTGCAACCTCCACCTCCCCAGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCACGTTGACCAGGCTGGTGTCAAATGCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAATGTTGGGATTGCAGGCGTGAGCCACTGCACTCAGCCTGGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTAGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGCTCAAGCGATTCTCTTGCCTCAGCTTCCTGAGTAGTTGGGATTACAGGTGCGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTCGGTTAGCCTGGTCTAGAACTCCTGACCTCCGGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACGGCCGTGAGCCACCTCGCCTGGCCCCAATTTTTGTATTTTTAGTAGAGACAGGGTCTTGCTATGTTGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCTCAAAATCGACTATTTAAACTGTGACTTATACATTTCAAAAACAAACCAAAATATTTCCAGCAATTCAAAGGCAGATCGAAAAATGGGAGTTAAGGATGTGGGATTTCCTGGCACTCTCACGTCACCTGAATGACTTTCTGCGTTTGCTTCTTAGGTTCGCCTGGCCCTAATGCATGCTGAGTACTTCATGAACAATGTTAAGATGAATGACTATGTCAAAGACAGTGAGGAATGCAAACCAGTCATCATTAATGCCCTAAAGGCCATGTATGACCTCAACATGAATGGACCCTCTAATTCTGATTTCACCAACCCACTCACCAGACCACGCTTGCCCTATGCCATCCTCTTTGCAATTGGTGGCTGGAGTGGTGGGAGCCCCACCAATGCCATTGAGGCATATGACGCTCGGGCAGACAGATGGGTGAATGTTACTTGTGAGGAAGAGAGTCCCCGTGCCTACCATGGGGCAGCCTATTTGAAAGGCTATGTGTATATCATTGGGGGGTTTGATAGTGTAGACTATTTCAATAGTGTTAAGCGTTTTGACCCAGTCAAGAAAACTTGGCATCAGGTGGCCCCGATGCACTCCAGACGTTGCTATGTCAGTGTGACAGTCCTCGGCAATTTTATTTATGCCATGGGAGGATTTGATGGCTACGTGCGTCTAAACACTGCTGAACGTTATGAGCCAGAGACCAATCAATGGACACTCATCGCCCCCATGCACGAACAGAGGAGTGATGCAAGCGCCACAACACTTTATGGGAAGGTAAAGGACCAGGGTGGGAGGGGAAGATGTGGATGCAAAGTACAAGACCAGAAATGATACTGCTCTTTTTTGGGGTGGATGGAAGACGCAGTGGCAGTATTCACTTTGGAGTACTCATTCTTTCTTCAATTGACAAGGTGACTAGTTGCAACTGTCTTTTATGTTGTTTATTGAAAAGTAATGCAAAGCCGGGCACGGTGGCTCAAGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCAGATCACTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCCTGGTGGCGGGCGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGGATTTCAGTGAGCCAAGATGGCGCCATTTCACTCCAGCCCGGGCGACAGTGCAAGACTCCATCTCAAAAGAAAAAAGAAAAAAAAAGTAATGCAGGCTGGGCTCGGTGACTCACGCCTGTAATCCCAGCACTTTGGCAAGCCGAGGCGGGAGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGAGAATCACTTGAACCTAGGAGGCGGAGGCTGCAGTGGGCAGAGGTTGCAGTGCTCCAAGATTGCGCCACTGCACTCCAGCCTGATGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAGTAATGTGTAATGTGGCAGAGCCCAGTGTCTTGTGTTTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCACAGTGGCACACACCTGTAATTTCAGCTACTCAGGAGGTGGAGGTTGTAGTGAGCCGGGATAGCTCCACTGCACTCCAGCCCAGGCAACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAATAGGCTGGGCACAGTGTATCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGAGGGGCGGATTGCCTTAACTCAGGAGTTCGAGACCAGCCTGGACAACACGGTGAAACCTCGTCTCTACTAAAATACAAAAAATTAGCGGAGCGTGGCAGTGTGCGCCTGTAGTCCCAGCTACTCCAGATGCTGAGGCAGGAGAATTGTTAGAACCCAGGAGGCGGAGTGAGCAGAGATGGTGCAAATGGACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCTAAAAAATAAATAAAAAGCAATGCATGCACATACAAAAAAAAGAAATTCAGACTGTACAGACTGGAATTAAGTGCCCACTACCACCACACACATATCCTTTCTTTCTACTCCCTAGAGTGGGAATTTTAATAATCTTGGAACTCTTCACACAGGTCTACATATGTGGTGGGTTTAATGGAAACGAGTGCCTGTTCACAGCAGAAGTGTATAACACTGAAAGTAATCAGTGGACAGTCATAGCACCCATGAGAAGCAGGAGGAGTGGAATAGGCGTGATTGCTTATGGAGAACATGTATATGCGGTAAGTTTATCTAGTACCACACACACACAAAAAACACATTACCCCTAGATTTTGTATTAGTAA | GCCTGTAATCCCAGCTACTCGGGAATCTGAGGCAGGAGAATAACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCCAGATCGCACCATTGCACTCCAGCTGGGCGACAGAGAGAGACTTGGTCTCAAATTAACAAAAAAAAAAAAAAAAATCTTAAGTATTGCACACAATTGTTGTCAGTTGGTGCTAATAAGCGTTATTTTACATATTAAGACATACTCAATTACTGAACAATTACCATGGTTTTTCTTGGTCTAATAGTACTGACCACTAACCAAGGAATGGGATTGCTCTCTGGCCACTTGAGGTGCCTTCTATCTAGCTCATTCTCAGCTTCCAAATGTATATATCACCTCCCCATAAATAAATAGTAAATAAATATTTATTATTTATTTATTTATTTTGAGAAGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCGCGGCTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGGCTCCCCAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTAGCGCCCGGCTGACAACTATTTATTTATTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCTGTGGTGTGATCACAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCACACCTTAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGGCACCATGCCTGGCTAATTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGTGGTAGCACGATCTCGGCTCACTGCAACCTCCACCTCCCCAGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCACGTTGACCAGGCTGGTGTCAAATGCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAATGTTGGGATTGCAGGCGTGAGCCACTGCACTCAGCCTGGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTAGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGCTCAAGCGATTCTCTTGCCTCAGCTTCCTGAGTAGTTGGGATTACAGGTGCGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTCGGTTAGCCTGGTCTAGAACTCCTGACCTCCGGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACGGCCGTGAGCCACCTCGCCTGGCCCCAATTTTTGTATTTTTAGTAGAGACAGGGTCTTGCTATGTTGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCTCAAAATCGACTATTTAAACTGTGACTTATACATTTCAAAAACAAACCAAAATATTTCCAGCAATTCAAAGGCAGATCGAAAAATGGGAGTTAAGGATGTGGGATTTCCTGGCACTCTCACGTCACCTGAATGACTTTCTGCGTTTGCTTCTTAGGTTCGCCTGGCCCTAATGCATGCTGAGTACTTCATGAACAATGTTAAGATGAATGACTATGTCAAAGACAGTGAGGAATGCAAACCAGTCATCATTAATGCCCTAAAGGCCATGTATGACCTCAACATGAATGGACCCTCTAATTCTGATTTCACCAACCCACTCACCAGACCACGCTTGCCCTATGCCATCCTCTTTGCAATTGGTGGCTGGAGTGGTGGGAGCCCCACCAATGCCATTGAGGCATATGACGCTCGGGCAGACAGATGGGTGAATGTTACTTGTGAGGAAGAGAGTCCCTGTGCCTACCATGGGGCAGCCTATTTGAAAGGCTATGTGTATATCATTGGGGGGTTTGATAGTGTAGACTATTTCAATAGTGTTAAGCGTTTTGACCCAGTCAAGAAAACTTGGCATCAGGTGGCCCCGATGCACTCCAGACGTTGCTATGTCAGTGTGACAGTCCTCGGCAATTTTATTTATGCCATGGGAGGATTTGATGGCTACGTGCGTCTAAACACTGCTGAACGTTATGAGCCAGAGACCAATCAATGGACACTCATCGCCCCCATGCACGAACAGAGGAGTGATGCAAGCGCCACAACACTTTATGGGAAGGTAAAGGACCAGGGTGGGAGGGGAAGATGTGGATGCAAAGTACAAGACCAGAAATGATACTGCTCTTTTTTGGGGTGGATGGAAGACGCAGTGGCAGTATTCACTTTGGAGTACTCATTCTTTCTTCAATTGACAAGGTGACTAGTTGCAACTGTCTTTTATGTTGTTTATTGAAAAGTAATGCAAAGCCGGGCACGGTGGCTCAAGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCAGATCACTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCCTGGTGGCGGGCGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGGATTTCAGTGAGCCAAGATGGCGCCATTTCACTCCAGCCCGGGCGACAGTGCAAGACTCCATCTCAAAAGAAAAAAGAAAAAAAAAGTAATGCAGGCTGGGCTCGGTGACTCACGCCTGTAATCCCAGCACTTTGGCAAGCCGAGGCGGGAGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGAGAATCACTTGAACCTAGGAGGCGGAGGCTGCAGTGGGCAGAGGTTGCAGTGCTCCAAGATTGCGCCACTGCACTCCAGCCTGATGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAGTAATGTGTAATGTGGCAGAGCCCAGTGTCTTGTGTTTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCACAGTGGCACACACCTGTAATTTCAGCTACTCAGGAGGTGGAGGTTGTAGTGAGCCGGGATAGCTCCACTGCACTCCAGCCCAGGCAACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAATAGGCTGGGCACAGTGTATCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGAGGGGCGGATTGCCTTAACTCAGGAGTTCGAGACCAGCCTGGACAACACGGTGAAACCTCGTCTCTACTAAAATACAAAAAATTAGCGGAGCGTGGCAGTGTGCGCCTGTAGTCCCAGCTACTCCAGATGCTGAGGCAGGAGAATTGTTAGAACCCAGGAGGCGGAGTGAGCAGAGATGGTGCAAATGGACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCTAAAAAATAAATAAAAAGCAATGCATGCACATACAAAAAAAAGAAATTCAGACTGTACAGACTGGAATTAAGTGCCCACTACCACCACACACATATCCTTTCTTTCTACTCCCTAGAGTGGGAATTTTAATAATCTTGGAACTCTTCACACAGGTCTACATATGTGGTGGGTTTAATGGAAACGAGTGCCTGTTCACAGCAGAAGTGTATAACACTGAAAGTAATCAGTGGACAGTCATAGCACCCATGAGAAGCAGGAGGAGTGGAATAGGCGTGATTGCTTATGGAGAACATGTATATGCGGTAAGTTTATCTAGTACCACACACACACAAAAAACACATTACCCCTAGATTTTGTATTAGTAA |
Task1_train_24345 | The gene CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Myopia 2, autosomal dominant | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCACGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC |
Task1_train_24346 | A variant on Chromosome 17 in gene CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Myopia 2, autosomal dominant | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC | TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAGGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC |
Task1_train_24347 | Consider this mutation in CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Leukodystrophy, hypomyelinating, 20 | CATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGAATACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTTTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGACCAGGCTGGTCGGTAGCACAAAAGAAAGGAGGGGCCCTTGGCC | CATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTTGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGAATACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTTTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGACCAGGCTGGTCGGTAGCACAAAAGAAAGGAGGGGCCCTTGGCC |
Task1_train_24348 | Located on Chromosome 17, this mutation impacts CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Myopia 2, autosomal dominant | CACCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTGAGAATTTTAACTTTTTATTGCTCTAAAGTTGCCATTAGTTTGACCAACTAACCAATGAATGAGCTGTAGTGGGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGCGCTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCCCTGCTCCCCTGCCCTGACTGCACCCGTTTTCTCCCGGCAGTCGTCCCTGGGGATGAGCCCAGGGAGAAGATGGACTTGGTCACCTACTTTGGAAAGAGACCCCCAGGCGTGCTGCATTGCACAACCAAGTTTTGTGACTACGGGAAGGCTCCCGGGGCAGAGGAGTACGCTCAACAAGATGTGAGTCTTCCCCAGGGACACATGGGGGAGGTGGGAGGTTGGGGGAGAAGGGGCTGCAGCATCTTCTGAAGATAGGTACCGGTGCCAGGCAGGGACCAAAAACCAGATGGCAGCTCAAGAAAAATGGCATCTCCTCCTCCTAGCTCCCCTGTCCCCAGGCGTAGCTGCATAGACCTCAGCCGCAGGTTCTAAGGAGCCTGCCCTGGCAGTACTGCCAGCCTGTGCATTCACCTGCCCCCAAGCACCTTCGCCTTCTGCAGATTCATGGAGAATGCTGGTCCACAGTGGGCTCCTGCTCTGGTCTCTCTGAGCCTGTTTTACCTTCCAAAGACTAGGAGTCCTTCGCCCCCAGGGAGCCTGGTGCACTGAGGTCCCCATCCCTGTCCCCAGGTCTGAGGTCTGGCCTGGCCCCAGAGTGAGGGAGTTTCATACGATAATGAAGCTTATTGGCTAATGGGTACGAGACCTTTCTGCACCACACAGCTGGCACCTTACACCCACAGCCACTGACAGTGATCCCTGAATGCCAGGCATGTCACCCATATCCACAGTCTCCAACTTCCAAGTGTCCACCCCCAAGCCCACTCTCCCACTTCTCTGCCTAGGTTAGCACAATCGTTTGTTTGTTCACTAGAGTGTCCTCCCAAATGGAAGCTCCCCTGAGGGCGAGTTTTTAAGTTTCGTTGACTCCTGTGGTTCCAGCACCCTAGCATAGTGGAATGAATATGTAACACCTGAGCTACCATCCCTAACCATGCCTTCATTTAGCATTTATTAACTACCCATTTCATGCCAGACACTGTTGGGACAAGGGATCGTGAGCAAAAATAGAAAAGCGTTTATGCTGAGATGGGATGGGCTGTCTCAAAGAATCAGATAGAAGCAGACATATCATCAGATGGGAACCAAAGTGTAAGAGCAGGTTTCCATCAAGGGCGAGTCTGACCTCAGTCTGACCTCACCCTGTCCTCCAGGGCGCTGTCTGGGTCCCAGGGGAAGCTGAGCGGTGCCAACAGTAGCAGCTGTTGTGTGCGCGGACACCCCTGTGGGCTGTTTACCTAGTCACTCTCATAACCACATTAACTCTGAGGTAGGCTCTGGTTCTCCCTGTTTTACGGGTGATGAAGCCAAGGCACCGAGAGGTCAGCCAGCCCGCTGAGGCCGGAAGCCAGTGTGCAGGGAGCTGGGCTCCCTCAGGAAGTCCGGCTGTCCCCGTGTGGCCCTGTCTGAGCGCCTTCGTGTTTCTCACTTGAGCCTGGAGCGCCTATGGAAGGTGCGTGCCGCAGTTGTTAGTGGATGCTGGGCCTATACCGACCCCTGCTCAGCTGTGCTCACTTCTGTTAGACTTCCCCTTCTCTCCTCCAGGAGGGACCCTCCCTGGGTCAGCTGTTCCTCAAGAGCCTGCCATCTCTAGCTTGGGCCCCTCTTTCTCACTCTCCCCAGGTGTTAAAGAAATCTTACTCCAAGGCCTTCACGCTGACCATCTCTGCCCTCTTTGTGACACCCAAGACGACTGGGGCCCGGGTGGAGTTAAGCGAGCAGCAACTGCAGTTGTGGCCGAGTGATGTGGACAAGCTGTCACCCACTGACAACCTGCCGCGGGGGAGCCGCGCCCACATCACCCTCGGCTGTGCAGCTGACGTAGAGGCCGTGCAGACGGGCCTTGACCTCTTAGAGATTCTGCGGCAGGAGAAGGGGGGCAGCCGAGGCGAGGAGGTGGGCGAGCTAAGCCGGGGCAAGCTCTATTCCTTGGGCAATGGGCGCTGGATGCTGACCCTGGCCAAGAACATGGAGGTCAGGGCCATCTTCACGGGGTACTACGGGAAAGGCAAACCTGTGCCCACGCAAGGTAGCCGGAAGGGGGGCGCCTTGCAGTCCTGCACCATCATATGAGTGTTCTCACCACCACTTATGCCCCTAGAAGGGAAGGGGAGAGGGAAACGTGCCCTCTGTTTGATCCTTGTTTTGTGACATTTTTTTTTTTTTTTTTTTTACTCAAAGTTAACCTACCTGTAACTTTTTAAAAACTTGTAAAATAACTGACCCTCCCTTCCTGTCCGCCCTCTTCCCCTCTAATGCTCACGCTCCCAACACAAGGTGGGCAGGGAGGCACCATTCAGGAACCTGGACCAAAGCTGACGAGGCTGGGCCAAGCCAGGGATGGGGCCACAGCCAGAACCCCGAGCCCTACTTCCAGGTTCTGGTTAGCTCAGCCCCAGCCCAGCCCAGCTGCTCTGCCCAGAGCTGGGTGAGTGGGGAGACACCTCAGAGCCCCGCAAAACCCACTGACCGGAGGCAAAAGGCAGTGGGGCTGGGGGTAGTTTTCCATGGTCACAGAGAACTAGTGGTGGCTCTGAGAAGGGGAGGACCTCTGGGCTTTGATTCCATCTCCTTGTCTTTTTTCTTTGTTTTTAGAGACAGGGTCCTGCTATTTCCCAAGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCTGAGTGATCCCATTTCTTAATCAGTGTAGCCCCAAGAAGGCTGGGGCTATTTACCAGGGTAGAAAAAGGAGCTTACCTCCCACCTTTGGTCCTAAGTCCCTGCCCCCTCCCCTTCACACCATAACTAGGTAACAGTTTGATAACTAGGGAAGAAAGCAGAACAGTTAAGCAGCCGCCACATCCCCGCTGGCTGGGGGCCTCACTCCAGGAAGGGGCTGGACTGGCTGTCCTTTCCAGTGGCCTGGCTCCGCTGTGTGGATGGGGAGATCGGGGCCAGAGGCAGAACCCTGGTGAGGAAGCTCCAGTCCTGCTCTCTACCCAGCCCATCTTGCCTCCATGGTGCCTCTGGAGGCCTCTGGGCCTCCTCTAACAGGGGCTGGTGGGCACCAAGAGCCAATGGAGTAGACCCCTGGCTGGTAAGGGCCAAGTCCCACCGGTTGCTTCTGGGAAGGGGTTTCTAACACTAGTCTGTGTGCTGTGGTTCCTGGGGTGCCCTCCACTGCCCTCTGTTCAGTAACAGGGCCTTGCTAATCGGGTTGTCACTCAACAAAAGTGCTTTGGATTTAAGTTACTATCCTGGCTTTGCCCAACCTCAGCAACCTGTAAGACTGATAATGAAATAAATCATGTTAATCCTAGCTGTGTGCAGTCTCTCTTACCCTTCTGTGCCCAGCTCAGTCTTCCCTAGGGCTGGGTGTATTAGGACTGGCTTTGTCCCACAGCTTGGGGCCATCGGTCCTGTCTCCCCTCTGCTGGCCGGGCACAGCTGTGGTGAGGTTGGGCAGCTGAACAGTGTTGGCTTTCATGAGGAGGCAGAAAGCAGAGGCTGGCCTCAGACTCATACAGAAGGTGGGGGTTGGCTGGGTACGAGGGATGTGGAGCACAAAAGCCTCTCATCCCCCATTAACCAGGGCACCAAGCCCACAGGTGTCCCCAGCCCACTGGATCAGAAAGAGTTCAGTAAGACCGGAAGCTCCTGGTATGGGTTTCTCCCAGTTCTCTAGGGAAGGCCACCTGCAGGTCACTGAAACTTCAAGCACCAGGGAAGATCTAACATTTGAGTCCCTTCCAGGCCATCAGAGGCCTAGTCAGCCACATGGGAAACTTCCAAGACCTGACTCAGGCATCATTCCACCATGGCTAAGGCACCAGCCGGGGAAGACTTGAAAGAAAGGGGCAGGAGCTCAGATGAAGAGAAATCCT | CACCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTGAGAATTTTAACTTTTTATTGCTCTAAAGTTGCCATTAGTTTGACCAACTAACCAATGAATGAGCTGTAGTGGGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGCGCTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCCCTGCTCCCCTGCCCTGACTGCACCCGTTTTCTCCCGGCAGTCGTCCCTGGGGATGAGCCCAGGGAGAAGATGGACTTGGTCACCTACTTTGGAAAGAGACCCCCAGGCGTGCTGCATTGCACAACCAAGTTTTGTGACTACGGGAAGGCTCCCGGGGCAGAGGAGTACGCTCAACAAGATGTGAGTCTTCCCCAGGGACACATGGGGGAGGTGGGAGGTTGGGGGAGAAGGGGCTGCAGCATCTTCTGAAGATAGGTACCGGTGCCAGGCAGGGACCAAAAACCAGATGGCAGCTCAAGAAAAATGGCATCTCCTCCTCCTAGCTCCCCTGTCCCCAGGCGTAGCTGCATAGACCTCAGCCGCAGGTTCTAAGGAGCCTGCCCTGGCAGTACTGCCAGCCTGTGCATTCACCTGCCCCCAAGCACCTTCGCCTTCTGCAGATTCATGGAGAATGCTGGTCCACAGTGGGCTCCTGCTCTGGTCTCTCTGAGCCTGTTTTACCTTCCAAAGACTAGGAGTCCTTCGCCCCCAGGGAGCCTGGTGCACTGAGGTCCCCATCCCTGTCCCCAGGTCTGAGGTCTGGCCTGGCCCCAGAGTGAGGGAGTTTCATACGATAATGAAGCTTATTGGCTAATGGGTACGAGACCTTTCTGCACCACACAGCTGGCACCTTACACCCACAGCCACTGACAGTGATCCCTGAATGCCAGGCATGTCACCCATATCCACAGTCTCCAACTTCCAAGTGTCCACCCCCAAGCCCACTCTCCCACTTCTCTGCCTAGGTTAGCACAATCGTTTGTTTGTTCACTAGAGTGTCCTCCCAAATGGAAGCTCCCCTGAGGGCGAGTTTTTAAGTTTCGTTGACTCCTGTGGTTCCAGCACCCTAGCATAGTGGAATGAATATGTAACACCTGAGCTACCATCCCTAACCATGCCTTCATTTAGCATTTATTAACTACCCATTTCATGCCAGACACTGTTGGGACAAGGGATCGTGAGCAAAAATAGAAAAGCGTTTATGCTGAGATGGGATGGGCTGTCTCAAAGAATCAGATAGAAGCAGACATATCATCAGATGGGAACCAAAGTGTAAGAGCAGGTTTCCATCAAGGGCGAGTCTGACCTCAGTCTGACCTCACCCTGTCCTCCAGGGCGCTGTCTGGGTCCCAGGGGAAGCTGAGCGGTGCCAACAGTAGCAGCTGTTGTGTGCGCGGACACCCCTGTGGGCTGTTTACCTAGTCACTCTCATAACCACATTAACTCTGAGGTAGGCTCTGGTTCTCCCTGTTTTACGGGTGATGAAGCCAAGGCACCGAGAGGTCAGCCAGCCCGCTGAGGCCGGAAGCCAGTGTGCAGGGAGCTGGGCTCCCTCAGGAAGTCCGGCTGTCCCCGTGTGGCCCTGTCTGAGCGCCTTCGTGTTTCTCACTTGAGCCTGGAGCGCCTATGGAAGGTGCGTGCCGCAGTTGTTAGTGGATGCTGGGCCTATACCGACCCCTGCTCAGCTGTGCTCACTTCTGTTAGACTTCCCCTTCTCTCCTCCAGGAGGGACCCTCCCTGGGTCAGCTGTTCCTCAAGAGCCTGCCATCTCTAGCTTGGGCCCCTCTTTCTCACTCTCCCCAGGTGTTAAAGAAATCTTACTCCAAGGCCTTCACGCTGACCATCTCTGCCCTCTTTGTGACACCCAAGACGACTGGGGCCCGGGTGGAGTTAAGCGAGCAGCAACTGCAGTTGTGGCCGAGTGATGTGGACAAGCTGTCACCCACTGACAACCTGCCGCGGGGGAGCCGCGCCCACATCACCCTCGGCTGTGCAGCTGACGTAGAGGCCGTGCAGACGGACCTTGACCTCTTAGAGATTCTGCGGCAGGAGAAGGGGGGCAGCCGAGGCGAGGAGGTGGGCGAGCTAAGCCGGGGCAAGCTCTATTCCTTGGGCAATGGGCGCTGGATGCTGACCCTGGCCAAGAACATGGAGGTCAGGGCCATCTTCACGGGGTACTACGGGAAAGGCAAACCTGTGCCCACGCAAGGTAGCCGGAAGGGGGGCGCCTTGCAGTCCTGCACCATCATATGAGTGTTCTCACCACCACTTATGCCCCTAGAAGGGAAGGGGAGAGGGAAACGTGCCCTCTGTTTGATCCTTGTTTTGTGACATTTTTTTTTTTTTTTTTTTTACTCAAAGTTAACCTACCTGTAACTTTTTAAAAACTTGTAAAATAACTGACCCTCCCTTCCTGTCCGCCCTCTTCCCCTCTAATGCTCACGCTCCCAACACAAGGTGGGCAGGGAGGCACCATTCAGGAACCTGGACCAAAGCTGACGAGGCTGGGCCAAGCCAGGGATGGGGCCACAGCCAGAACCCCGAGCCCTACTTCCAGGTTCTGGTTAGCTCAGCCCCAGCCCAGCCCAGCTGCTCTGCCCAGAGCTGGGTGAGTGGGGAGACACCTCAGAGCCCCGCAAAACCCACTGACCGGAGGCAAAAGGCAGTGGGGCTGGGGGTAGTTTTCCATGGTCACAGAGAACTAGTGGTGGCTCTGAGAAGGGGAGGACCTCTGGGCTTTGATTCCATCTCCTTGTCTTTTTTCTTTGTTTTTAGAGACAGGGTCCTGCTATTTCCCAAGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCTGAGTGATCCCATTTCTTAATCAGTGTAGCCCCAAGAAGGCTGGGGCTATTTACCAGGGTAGAAAAAGGAGCTTACCTCCCACCTTTGGTCCTAAGTCCCTGCCCCCTCCCCTTCACACCATAACTAGGTAACAGTTTGATAACTAGGGAAGAAAGCAGAACAGTTAAGCAGCCGCCACATCCCCGCTGGCTGGGGGCCTCACTCCAGGAAGGGGCTGGACTGGCTGTCCTTTCCAGTGGCCTGGCTCCGCTGTGTGGATGGGGAGATCGGGGCCAGAGGCAGAACCCTGGTGAGGAAGCTCCAGTCCTGCTCTCTACCCAGCCCATCTTGCCTCCATGGTGCCTCTGGAGGCCTCTGGGCCTCCTCTAACAGGGGCTGGTGGGCACCAAGAGCCAATGGAGTAGACCCCTGGCTGGTAAGGGCCAAGTCCCACCGGTTGCTTCTGGGAAGGGGTTTCTAACACTAGTCTGTGTGCTGTGGTTCCTGGGGTGCCCTCCACTGCCCTCTGTTCAGTAACAGGGCCTTGCTAATCGGGTTGTCACTCAACAAAAGTGCTTTGGATTTAAGTTACTATCCTGGCTTTGCCCAACCTCAGCAACCTGTAAGACTGATAATGAAATAAATCATGTTAATCCTAGCTGTGTGCAGTCTCTCTTACCCTTCTGTGCCCAGCTCAGTCTTCCCTAGGGCTGGGTGTATTAGGACTGGCTTTGTCCCACAGCTTGGGGCCATCGGTCCTGTCTCCCCTCTGCTGGCCGGGCACAGCTGTGGTGAGGTTGGGCAGCTGAACAGTGTTGGCTTTCATGAGGAGGCAGAAAGCAGAGGCTGGCCTCAGACTCATACAGAAGGTGGGGGTTGGCTGGGTACGAGGGATGTGGAGCACAAAAGCCTCTCATCCCCCATTAACCAGGGCACCAAGCCCACAGGTGTCCCCAGCCCACTGGATCAGAAAGAGTTCAGTAAGACCGGAAGCTCCTGGTATGGGTTTCTCCCAGTTCTCTAGGGAAGGCCACCTGCAGGTCACTGAAACTTCAAGCACCAGGGAAGATCTAACATTTGAGTCCCTTCCAGGCCATCAGAGGCCTAGTCAGCCACATGGGAAACTTCCAAGACCTGACTCAGGCATCATTCCACCATGGCTAAGGCACCAGCCGGGGAAGACTTGAAAGAAAGGGGCAGGAGCTCAGATGAAGAGAAATCCT |
Task1_train_24349 | Here is a mutation in HCRT (hypocretin neuropeptide precursor) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Narcolepsy 1 | CTCAGCCTCCTTAGTAGCTGGGATCACAGGCGTGCATTACAATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGAGCCTAGCCTGTGTCTCTACTTTTGGATGTTATATTAGTTTCCTAGGACTGCCATAACAAAGTACCACAAAGTGAGTGGCTCAAACAACAGAAACCTATTGTCTCACAGTTCTGGATGCTAGAAGTCCAAGCAAGGTCAGGTGAAGAGCGTTGGTTCCTTCTGAAGGCTATGAGGGAGAATCTGTTGCATGCCTCTCCCCTATCTTCTGGGGGTGGGGGTGCTGGCAATTTTTGGTGTTCCTTGGCTTGTAGGAGCCAATCTCTACCTTCATGTTCACATGGGTTCTCCCTGTGTGTGTTTCTGTGTTCCAATTCCCTTTTTTATAAGGACGCCAGTCACAGTGGATTAGAGGCCCACCCTACTCTAGTATGACCTCATCTTAACTAATTGCATCTGGAAGGACCTTATTTCCAAATACAGCCACATTCTGAAGTGCCACGGGTACGGACTTCAACATATGGATTTTGGGAACACCAGTAACAGGTGTCTTTGGCTGGAGTTGCAGTAAAATCTTGTACTGCCCCTGCTTAAGAATGTCCCATGACTCTGTTACCTACAAGATAAAGTGCAAAGCCCGATGATTTGTGAGAGCCTTTGCGAGCTGTGCTGCACTGACTGTAACTGTGTCCCTTCCTGAGCCTCTCCACTCCCCACACCCTATACCCCATGATGCAGCCATTCTGGATGACTCATTGTTGAAGTTCAAATTCCCTGCCTTTTCAGCAGGATTGACTCCCACCCCTTCCTAGCTGGATTCTGCTGCTCTATGCAGCTTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTTCTTTCTTTTCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTGACAGTGCCTCCTTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCAATTATGGCTCAAACTCAAACTCCTGGGCTCAAGCAATCCTCTCGCCCACCATACCCCGCTAATTAAAAAAACTTTTTGGAGAGATGTCTCACTCACTATGTTGCCTAGGCTCGTCTCGAACTCCTTGCTTCAAGGGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGCGCCCGACCGCTGCAACCTTTCTTGCTTTCCTTCCCCTTCCGCGTCTCTGGGTAAAGTCCCCGCTACAGAATGCCTAGCAGAGCATCGTAGGAGTCCCGCATGGCCCGATCCAAGCATGCACCTGTGCAGTTCTCTCTGTGCCCCAGGGCCTTGCACTGGGAACTCCCCAACCAAGAGTGTTTCCGATTCAACCACGCAAAAGCTAAGGCTGGTGCCCGACAGCCGGGCTTCCAGGCCCAGCTGTCCTCCGCAAGACGCTTTGCCACCCCGGATGGGCAGGACGCGACCGCACAGGAACAGAGACCAGTCACACGAATGGAGACTCGTCTTTATTGCCTTTTTTCTGGGGGCTGACGCTGGGTGGGCAGAGGGCAGAGGCCTGGGCCAGGACAGGGCCCGAAGAACGACTCAGATCCCGGACTGTCCTCCGGGCGCGACGGAGGCGGCGGCCGGGGCGGAACAGCGGCGCCCGAGGCAGGGGCGCGGCGCTGGCTCTGCGCCTGCGCGGCGGCCCATGGTCAGGATGCCCGCGGCGTGGTTGCCGCTGGCCTGCAGGAGGCGCTGCAGCCGACCCTGGAGGCCCGGGGGCCCGGACCTCCGCTTGCCCAGCGTGAGGATGCCGGCCGCGTGATTGCCCGCGCCGTGCAGCAGCTCGTAGAGGCGGCAAGAGCAAGTCTTTTGACGACAGCAGTCGGGCAGGGGCTGTGCAGCCGCCCCGGACGACAACAGCGCGGGCGGCAGCAGCAGCAGCAGCAGCAGTAGCGTCACGGCGGCCCAGGAGACCTAGGGAGACGGAGACAGGGCGCTGGGGGGGTCTTCCCACGGCGCCCGCCACCAGCTCCCACGCCCAGGACCTGCCCCTCTGGCTCCGCGCCCCCTCCAAGCCTGCACTCCTTTCTGGCTGTCACTTAGTTCTCCTTGCTTTGCGCCCTTGCTGGTATCGGCCTACTTTCCCTGCTCCTCCTTCAAGACCCAGCAGAGCATCTCCCCCAGGAAGCCTTTTGAGACCCCCTGGGCAGAGTGAATCCCCCTTTTCTCTGGAGACTTAGGCCACTGTGCCACCACTAGGGCACTTGCCACTCCACCTGAAAACAGGAGTGTCTGTCTGCAGCAGAAGTTGTAAACTTGGGAAAAACCCGGGCCCTACTGAGTCCCCCCAACTTCCTCTCCACAGCAGGGAAACACATGGAAATCAGGAACTAGCAAGACTCCAGAATGCTCTCTCATCTGCCTGCCCCCTTGCAGGAGTGACTGAACTCCGTTGCTTTGAACCAGTTTCCTGCCCTTTCAGAGGGCACAGCTCCCTTACCTGTAAACTGGGTATACTAGAAATAATTTCTACTCTGCAAGGCTGTTGGGAGGATGACAAGAGATGACAGGTGCAAACGGAGCACCTGACACATAGAGCTCAGCAAACACAGGCTCTTAGCAAAACAGCACCCAACCCAATGTGAGCCAAGGCAGGTGCTCCTGCCTCAGAGCACACCCAGGAAAAGACCAAGAGTGGAGACACCTTTGGCCTTTCTTCCAGCCCTCTGAGCAAGCACTCTTTTTGCTTCTCTGGGATGGTGAGTCACCCCTCCATCCCTGGATCTTTACCTTTGTGGAAGGAAGGTTCATGGTGTCTGGCGCTCAGGGTGGGGTAGCCGGGAAAGGAGATGTCTGTGGTGGTTCAAAAAGCCAGGAACCTTGAGGCTGTCAATTGTGACCCACTCCCAGGGGTCTGGGGTTTATAGTGCTCTGAGGTGGCGGGGAATTGACAGGCACTTGCGTCCACACCCAGGCCAGACAAAGGCAAGTCTAAGATTAGCCTGCTGCAGGGGGGCCGTCTCCAGGCTGGGCCCAAGGAATGGCCGCTGCGGCGTTCAGAGGCCAGGGTTGGATCACTGTGCCCCTGATCACCCCCTTGTCTGTCTATCTGCTCCCTGGAGATGGGGCGGTCTCCGGGCACTAATGAGGCCACCTTGCACCCAGGAATCTGGGAGCACAAAAGAGGCGCTGGCCTGGGACAATATGGAGGGAGGCAGCTGCTAATTAGGGGCGGGAGAGAGGCAGACGCGAGACCCCACATTATGTGTGTGGGGGGTGGAGCAGCCAGCAGCAGTCCTCTCCCTCCCCTGCTTCTTGTCGCTGCTCCTGGGGACTGTCAGGCTCCAGGACCTTCTTCCTTCATGGAAAGGCTCCTTAGCTGCCCCCTCCCCCTAGCTTTTTTTCTCCCTTCTGCCCTTTCCACTAGCCTCTGAGATGGAAAACCTTGAAAACTCAGCCTAGACAGTGGGAGGTAAGAAGCCAAAACCAAGCCCAATTTCTCTTTCTTTCTTTTCTGTGTGTGTGTGTGTGACTAAATTTTGGTCTTGTTGCTCAGGCTGGAGTGCAGTGGTATGGTCATCTTGGCTCACTGCAACCTCCGCCTTGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAATAGCTCCTGAATAGAATTACAGGCACACGCCACCACAACCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGTCTCCAAAAGTGTTGGGATTACAGGCGTGGGCCACTGCACCAGGCCCCCCCGCTTTTTTTTTCTTCCTTCCTTCTTTCCTTCTTCCTTCCTTCCTGCATTTCTTTCTTTCTTTCTCTCTCTCACTCTCTCCCTCTTTCTTTCTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCT | CTCAGCCTCCTTAGTAGCTGGGATCACAGGCGTGCATTACAATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGAGCCTAGCCTGTGTCTCTACTTTTGGATGTTATATTAGTTTCCTAGGACTGCCATAACAAAGTACCACAAAGTGAGTGGCTCAAACAACAGAAACCTATTGTCTCACAGTTCTGGATGCTAGAAGTCCAAGCAAGGTCAGGTGAAGAGCGTTGGTTCCTTCTGAAGGCTATGAGGGAGAATCTGTTGCATGCCTCTCCCCTATCTTCTGGGGGTGGGGGTGCTGGCAATTTTTGGTGTTCCTTGGCTTGTAGGAGCCAATCTCTACCTTCATGTTCACATGGGTTCTCCCTGTGTGTGTTTCTGTGTTCCAATTCCCTTTTTTATAAGGACGCCAGTCACAGTGGATTAGAGGCCCACCCTACTCTAGTATGACCTCATCTTAACTAATTGCATCTGGAAGGACCTTATTTCCAAATACAGCCACATTCTGAAGTGCCACGGGTACGGACTTCAACATATGGATTTTGGGAACACCAGTAACAGGTGTCTTTGGCTGGAGTTGCAGTAAAATCTTGTACTGCCCCTGCTTAAGAATGTCCCATGACTCTGTTACCTACAAGATAAAGTGCAAAGCCCGATGATTTGTGAGAGCCTTTGCGAGCTGTGCTGCACTGACTGTAACTGTGTCCCTTCCTGAGCCTCTCCACTCCCCACACCCTATACCCCATGATGCAGCCATTCTGGATGACTCATTGTTGAAGTTCAAATTCCCTGCCTTTTCAGCAGGATTGACTCCCACCCCTTCCTAGCTGGATTCTGCTGCTCTATGCAGCTTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTTCTTTCTTTTCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTGACAGTGCCTCCTTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCAATTATGGCTCAAACTCAAACTCCTGGGCTCAAGCAATCCTCTCGCCCACCATACCCCGCTAATTAAAAAAACTTTTTGGAGAGATGTCTCACTCACTATGTTGCCTAGGCTCGTCTCGAACTCCTTGCTTCAAGGGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGCGCCCGACCGCTGCAACCTTTCTTGCTTTCCTTCCCCTTCCGCGTCTCTGGGTAAAGTCCCCGCTACAGAATGCCTAGCAGAGCATCGTAGGAGTCCCGCATGGCCCGATCCAAGCATGCACCTGTGCAGTTCTCTCTGTGCCCCAGGGCCTTGCACTGGGAACTCCCCAACCAAGAGTGTTTCCGATTCAACCACGCAAAAGCTAAGGCTGGTGCCCGACAGCCGGGCTTCCAGGCCCAGCTGTCCTCCGCAAGACGCTTTGCCACCCCGGATGGGCAGGACGCGACCGCACAGGAACAGAGACCAGTCACACGAATGGAGACTCGTCTTTATTGCCTTTTTTCTGGGGGCTGACGCTGGGTGGGCAGAGGGCAGAGGCCTGGGCCAGGACAGGGCCCGAAGAACGACTCAGATCCCGGACTGTCCTCCGGGCGCGACGGAGGCGGCGGCCGGGGCGGAACAGCGGCGCCCGAGGCAGGGGCGCGGCGCTGGCTCTGCGCCTGCGCGGCGGCCCATGGTCAGGATGCCCGCGGCGTGGTTGCCGCTGGCCTGCAGGAGGCGCTGCAGCCGACCCTGGAGGCCCGGGGGCCCGGACCTCCGCTTGCCCAGCGTGAGGATGCCGGCCGCGTGATTGCCCGCGCCGTGCAGCAGCTCGTAGAGGCGGCAAGAGCAAGTCTTTTGACGACAGCAGTCGGGCAGGGGCTGTGCAGCCGCCCCGGACGACAACAGCGCGGGCGGCAGCAGCAGCAGCAGCAGCCGTAGCGTCACGGCGGCCCAGGAGACCTAGGGAGACGGAGACAGGGCGCTGGGGGGGTCTTCCCACGGCGCCCGCCACCAGCTCCCACGCCCAGGACCTGCCCCTCTGGCTCCGCGCCCCCTCCAAGCCTGCACTCCTTTCTGGCTGTCACTTAGTTCTCCTTGCTTTGCGCCCTTGCTGGTATCGGCCTACTTTCCCTGCTCCTCCTTCAAGACCCAGCAGAGCATCTCCCCCAGGAAGCCTTTTGAGACCCCCTGGGCAGAGTGAATCCCCCTTTTCTCTGGAGACTTAGGCCACTGTGCCACCACTAGGGCACTTGCCACTCCACCTGAAAACAGGAGTGTCTGTCTGCAGCAGAAGTTGTAAACTTGGGAAAAACCCGGGCCCTACTGAGTCCCCCCAACTTCCTCTCCACAGCAGGGAAACACATGGAAATCAGGAACTAGCAAGACTCCAGAATGCTCTCTCATCTGCCTGCCCCCTTGCAGGAGTGACTGAACTCCGTTGCTTTGAACCAGTTTCCTGCCCTTTCAGAGGGCACAGCTCCCTTACCTGTAAACTGGGTATACTAGAAATAATTTCTACTCTGCAAGGCTGTTGGGAGGATGACAAGAGATGACAGGTGCAAACGGAGCACCTGACACATAGAGCTCAGCAAACACAGGCTCTTAGCAAAACAGCACCCAACCCAATGTGAGCCAAGGCAGGTGCTCCTGCCTCAGAGCACACCCAGGAAAAGACCAAGAGTGGAGACACCTTTGGCCTTTCTTCCAGCCCTCTGAGCAAGCACTCTTTTTGCTTCTCTGGGATGGTGAGTCACCCCTCCATCCCTGGATCTTTACCTTTGTGGAAGGAAGGTTCATGGTGTCTGGCGCTCAGGGTGGGGTAGCCGGGAAAGGAGATGTCTGTGGTGGTTCAAAAAGCCAGGAACCTTGAGGCTGTCAATTGTGACCCACTCCCAGGGGTCTGGGGTTTATAGTGCTCTGAGGTGGCGGGGAATTGACAGGCACTTGCGTCCACACCCAGGCCAGACAAAGGCAAGTCTAAGATTAGCCTGCTGCAGGGGGGCCGTCTCCAGGCTGGGCCCAAGGAATGGCCGCTGCGGCGTTCAGAGGCCAGGGTTGGATCACTGTGCCCCTGATCACCCCCTTGTCTGTCTATCTGCTCCCTGGAGATGGGGCGGTCTCCGGGCACTAATGAGGCCACCTTGCACCCAGGAATCTGGGAGCACAAAAGAGGCGCTGGCCTGGGACAATATGGAGGGAGGCAGCTGCTAATTAGGGGCGGGAGAGAGGCAGACGCGAGACCCCACATTATGTGTGTGGGGGGTGGAGCAGCCAGCAGCAGTCCTCTCCCTCCCCTGCTTCTTGTCGCTGCTCCTGGGGACTGTCAGGCTCCAGGACCTTCTTCCTTCATGGAAAGGCTCCTTAGCTGCCCCCTCCCCCTAGCTTTTTTTCTCCCTTCTGCCCTTTCCACTAGCCTCTGAGATGGAAAACCTTGAAAACTCAGCCTAGACAGTGGGAGGTAAGAAGCCAAAACCAAGCCCAATTTCTCTTTCTTTCTTTTCTGTGTGTGTGTGTGTGACTAAATTTTGGTCTTGTTGCTCAGGCTGGAGTGCAGTGGTATGGTCATCTTGGCTCACTGCAACCTCCGCCTTGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAATAGCTCCTGAATAGAATTACAGGCACACGCCACCACAACCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGTCTCCAAAAGTGTTGGGATTACAGGCGTGGGCCACTGCACCAGGCCCCCCCGCTTTTTTTTTCTTCCTTCCTTCTTTCCTTCTTCCTTCCTTCCTGCATTTCTTTCTTTCTTTCTCTCTCTCACTCTCTCCCTCTTTCTTTCTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCT |
Task1_train_24350 | A change on Chromosome 17 affects gene STAT5B (signal transducer and activator of transcription 5B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGAAATAGTTTTAAAAGCCATGGGTAGGGGCCAGGCATGTTGGCTCATGCCTGTAATCCCACACTTTTGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGATGAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAAGTGTGGTGGCACTCATCCGTAGTCCCAGGTACTATGCTGAGGTAGGAGAATGGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGACACTGCACTCCAGCCTGGGTGACAGAGACCCCATCTCAAAAATAAATAAATAAATAAATAAATAAAAATAAAAGCCATGGGTAGATAAGCAGGTAATACAAAAATCACTTCCCAAGAGATCCAATGATCTCAGACGTTTCAAGTTCAAACAGTATTCTAGCCCTCAGTAGAAGAAACAGTTTTTACTGGCCCCCAATCCCTGATTTCCCATACAAAGATATATAAAAGCTAGGAAGCATGCCCACAACCAGAGAAAGCATAAGAGCTATTAAAAGTGATGAATTTTTTTTTTTTCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACAACTACACCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGGTTTCACTGTGATGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTTTTTTTTTTTTTCTTTTAAGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAGTGATGTGATCATGACTCACTGTAACCTTGAACTCCCAGGGTCAAGTGATCATCCCACCTCACCCTCCAGAGTAGCTGGGACTACAGGCGCACACCATGAGCACCACCATGCCCACCTAATTAACTTATTTATTTATTTATTTACTTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGGCTTGAACTCCTGGCCTCAAGAGATCCTCCTGCCTGAGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAAAGTTATTAAAAACTTTAATTCACAGAAAATGAACCAGCAAGCTACCCTTATTGTGAGGGTCAGAGGAGAGAACTAACTTTCCTGATGCCCTGGTGCAGTGGCTCAAGCCCGTAATCCCAATACTTTGGGAAGCCAAAGTGGGGGATTGTTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATACAAAAAATTTAAAAATTAGATGGGTGTGGTGGTGCACGTCTGTGGTCCCAGCTAATCGGGAGGCTAAGGGAGGAGGACTGCTTGAGGCCAGGAGGTCAAGGCTGCAGTGAGCCATGTTTGTGCCGCTGCACTCCAGCCCGGGCAAAAGAGTGAGACCCTGTTTCAAAAAAAGAAAAGAACTAACATCTTGGGTAGAAATGGTTGATGGCAATATCCATATGTTAATTAGGATAAAGGAATATTTTTACTACTGTAAGAACTCCAAATCATCAAATTCTTCACTGAAATAAGCTTTATGCAGAGTAGTACAATAAGGCAAACATTTTAAGAGGGAAGCAACTGAGATTCTGCACGGACTCTTGTATCATAGGTAGCCATGTCATGGTTAAATGTTCATGTGTAACCATGCTGCCATATACTTTCATGTATAACCAAATTAGCAATTGTGTTTCCCATAATAGTATTTTTCATAGGCTGCCTTATTATGAGTATGTCATGGCTATACATTTATGTTTCCCATAATTAGTACTGACCTCAACAAATAGTAAGTACCCACTAAATTATTTGTTAAAATAATTTTGTAACGAAAGCAGCTAACTTTGGACATAAGAAGGGAGGGGCACTCACGAGAATCAAACTTCCAAGCAATGGTGATGCCGCCAATTTCTGAGTCACTGAATCTCAGGAGGAAGGTCCCATCTGGCTTGTTAATGAGTAGGTCATGGGCCTGTTGCTTGTTTACAAACCCCAAAATGGCCCTGGATCACCAAGGACAAAGGACAGAAGCAGAGTGTGACTTACGATGCCAGAGAGAAGACCTTCAGACTCTGTCGGCGCCTTAAGAAATAATGATTCTCACCCATCATTCCAATGAGGCTTGAGATGTTTTTTTAACACTTCCATCACACCGTCAAACCATTGCCAGAAAGTGTAATTCCGTCCTGGTAAATTCTCCTGGTTGGAGATACAACAGTGAACATAAGAACACCAGAGTAACACTTGGAATATTATACACATATTTAATTGGAAAAATTAAATGGGAAACAAACATCTACCCTTGTCAGAGGCATACAAATATCCCCGCCTACCTGAGTTTTACCTAATGGCCCCATGGAGAGGAAAAGAGGGAAGAAGGGGAAAATACCAAACTGCAGTTACCAGCACCCAGTGGGCTCCTGCTACAGACACTTTCACCTGGGACTGGGCTGACCCGTCCCTTGCTAGTTTCGATGTGTGGTCTGTGACCAGAAGCATCAGTGTCACCTGGGAGCTTCTGAGAAATGCACGTTGTTAGGCTCCAAATTAAACATTTAAAACACCTTGGGGGTGGGGGGTGTAGGAAAAGAAACAAAAATTAAATTCAAATCAAGGTGATAGCCGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCTGGACATGGTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAATCTGGGAGACGGAGGTTGCAGTGAGCCCAGAATGTACCACTGCACTCCTTGTGACAGAGCGAGACACCATCTCAAAAATAAATAAATAAACAAAAATAAATAGGGTGGGCACAGTGGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCCACTAAAAATACAAAATTGCGGGGCGTGGTGCCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGCGGTTGCGGTGAGCCAAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAATGAATAAAAATAAAATCAAAGTGACGTCTGAATTAGCAGATGCTAGAGGAGGAGTTTCTTTCATCAGCATCCCTCTTTGTGGGTTGAGGGTCCCATAGGAGCCTGATCTGGCATTACACATGGGGAACATAAGAGAGTAAAGGGGAGAGAGGCCCAGAGTTCGCATCCCCTCAAAAGCTTTGCTTCTCATGAGCTATGTTAACATCTGCTTTGCTCTATTTCCTTTACAAAGGAAGAAAATGCATTAACTGTAGACAAAGGTCAACTTATTTAAAATATGCAAAGATGTAATTTTCTACACGTGACCTGGGTAACTCTCAAGTTGTCCATCTAGTCAGAAGCTTCTATTACTTTCGGTACATTTTATTAGAGACATGAAGAATAAGGGCCCAGGGCAGGGAGACTCCTGAGAGCATCTGGTTGGGAAGGACTGATCTAACAGCGGCTGGCAGCTGGGCTCCTCACCCTGTTGAACTGGGACCAGGACACAGACAGGCCACTGTAGTCCTCCAGGTGGCTGCTGCTGTTGTTGAACAGTTTCTGCGCCAGGAACACGAGGTTCTCCTTGGTCAGGCCCCGGTTGCTCTGCACTTCGGCCTTGAATTTCATGTTGAGCGCCTCACACAGCTGTGGCCACAGCACTTTGTCAGGCACGGCAAATGGCACCCTGCCCTGAGAGGGAGAGAGGCCAGAATCTGATGAGAAAACAGTTGCATGA | CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGAAATAGTTTTAAAAGCCATGGGTAGGGGCCAGGCATGTTGGCTCATGCCTGTAATCCCACACTTTTGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGATGAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAAGTGTGGTGGCACTCATCCGTAGTCCCAGGTACTATGCTGAGGTAGGAGAATGGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGACACTGCACTCCAGCCTGGGTGACAGAGACCCCATCTCAAAAATAAATAAATAAATAAATAAATAAAAATAAAAGCCATGGGTAGATAAGCAGGTAATACAAAAATCACTTCCCAAGAGATCCAATGATCTCAGACGTTTCAAGTTCAAACAGTATTCTAGCCCTCAGTAGAAGAAACAGTTTTTACTGGCCCCCAATCCCTGATTTCCCATACAAAGATATATAAAAGCTAGGAAGCATGCCCACAACCAGAGAAAGCATAAGAGCTATTAAAAGTGATGAATTTTTTTTTTTTCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACAACTACACCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGGTTTCACTGTGATGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTTTTTTTTTTTTTCTTTTAAGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAGTGATGTGATCATGACTCACTGTAACCTTGAACTCCCAGGGTCAAGTGATCATCCCACCTCACCCTCCAGAGTAGCTGGGACTACAGGCGCACACCATGAGCACCACCATGCCCACCTAATTAACTTATTTATTTATTTATTTACTTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGGCTTGAACTCCTGGCCTCAAGAGATCCTCCTGCCTGAGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAAAGTTATTAAAAACTTTAATTCACAGAAAATGAACCAGCAAGCTACCCTTATTGTGAGGGTCAGAGGAGAGAACTAACTTTCCTGATGCCCTGGTGCAGTGGCTCAAGCCCGTAATCCCAATACTTTGGGAAGCCAAAGTGGGGGATTGTTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATACAAAAAATTTAAAAATTAGATGGGTGTGGTGGTGCACGTCTGTGGTCCCAGCTAATCGGGAGGCTAAGGGAGGAGGACTGCTTGAGGCCAGGAGGTCAAGGCTGCAGTGAGCCATGTTTGTGCCGCTGCACTCCAGCCCGGGCAAAAGAGTGAGACCCTGTTTCAAAAAAAGAAAAGAACTAACATCTTGGGTAGAAATGGTTGATGGCAATATCCATATGTTAATTAGGATAAAGGAATATTTTTACTACTGTAAGAACTCCAAATCATCAAATTCTTCACTGAAATAAGCTTTATGCAGAGTAGTACAATAAGGCAAACATTTTAAGAGGGAAGCAACTGAGATTCTGCACGGACTCTTGTATCATAGGTAGCCATGTCATGGTTAAATGTTCATGTGTAACCATGCTGCCATATACTTTCATGTATAACCAAATTAGCAATTGTGTTTCCCATAATAGTATTTTTCATAGGCTGCCTTATTATGAGTATGTCATGGCTATACATTTATGTTTCCCATAATTAGTACTGACCTCAACAAATAGTAAGTACCCACTAAATTATTTGTTAAAATAATTTTGTAACGAAAGCAGCTAACTTTGGACATAAGAAGGGAGGGGCACTCACGAGAATCAAACTTCCAAGGAATGGTGATGCCGCCAATTTCTGAGTCACTGAATCTCAGGAGGAAGGTCCCATCTGGCTTGTTAATGAGTAGGTCATGGGCCTGTTGCTTGTTTACAAACCCCAAAATGGCCCTGGATCACCAAGGACAAAGGACAGAAGCAGAGTGTGACTTACGATGCCAGAGAGAAGACCTTCAGACTCTGTCGGCGCCTTAAGAAATAATGATTCTCACCCATCATTCCAATGAGGCTTGAGATGTTTTTTTAACACTTCCATCACACCGTCAAACCATTGCCAGAAAGTGTAATTCCGTCCTGGTAAATTCTCCTGGTTGGAGATACAACAGTGAACATAAGAACACCAGAGTAACACTTGGAATATTATACACATATTTAATTGGAAAAATTAAATGGGAAACAAACATCTACCCTTGTCAGAGGCATACAAATATCCCCGCCTACCTGAGTTTTACCTAATGGCCCCATGGAGAGGAAAAGAGGGAAGAAGGGGAAAATACCAAACTGCAGTTACCAGCACCCAGTGGGCTCCTGCTACAGACACTTTCACCTGGGACTGGGCTGACCCGTCCCTTGCTAGTTTCGATGTGTGGTCTGTGACCAGAAGCATCAGTGTCACCTGGGAGCTTCTGAGAAATGCACGTTGTTAGGCTCCAAATTAAACATTTAAAACACCTTGGGGGTGGGGGGTGTAGGAAAAGAAACAAAAATTAAATTCAAATCAAGGTGATAGCCGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCTGGACATGGTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAATCTGGGAGACGGAGGTTGCAGTGAGCCCAGAATGTACCACTGCACTCCTTGTGACAGAGCGAGACACCATCTCAAAAATAAATAAATAAACAAAAATAAATAGGGTGGGCACAGTGGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCCACTAAAAATACAAAATTGCGGGGCGTGGTGCCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGCGGTTGCGGTGAGCCAAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAATGAATAAAAATAAAATCAAAGTGACGTCTGAATTAGCAGATGCTAGAGGAGGAGTTTCTTTCATCAGCATCCCTCTTTGTGGGTTGAGGGTCCCATAGGAGCCTGATCTGGCATTACACATGGGGAACATAAGAGAGTAAAGGGGAGAGAGGCCCAGAGTTCGCATCCCCTCAAAAGCTTTGCTTCTCATGAGCTATGTTAACATCTGCTTTGCTCTATTTCCTTTACAAAGGAAGAAAATGCATTAACTGTAGACAAAGGTCAACTTATTTAAAATATGCAAAGATGTAATTTTCTACACGTGACCTGGGTAACTCTCAAGTTGTCCATCTAGTCAGAAGCTTCTATTACTTTCGGTACATTTTATTAGAGACATGAAGAATAAGGGCCCAGGGCAGGGAGACTCCTGAGAGCATCTGGTTGGGAAGGACTGATCTAACAGCGGCTGGCAGCTGGGCTCCTCACCCTGTTGAACTGGGACCAGGACACAGACAGGCCACTGTAGTCCTCCAGGTGGCTGCTGCTGTTGTTGAACAGTTTCTGCGCCAGGAACACGAGGTTCTCCTTGGTCAGGCCCCGGTTGCTCTGCACTTCGGCCTTGAATTTCATGTTGAGCGCCTCACACAGCTGTGGCCACAGCACTTTGTCAGGCACGGCAAATGGCACCCTGCCCTGAGAGGGAGAGAGGCCAGAATCTGATGAGAAAACAGTTGCATGA |
Task1_train_24351 | Assess the clinical impact of this variant on gene STAT5B (signal transducer and activator of transcription 5B), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCACATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG |
Task1_train_24352 | The gene STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG | GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCACATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG |
Task1_train_24353 | A mutation found in STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCCGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG |
Task1_train_24354 | Mutation context: Chromosome 17, Gene STAT5B (signal transducer and activator of transcription 5B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG | CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCCGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG |
Task1_train_24355 | A variant was discovered on Chromosome 17, affecting STAT5B (signal transducer and activator of transcription 5B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCTGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCGGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT |
Task1_train_24356 | This sequence variant lies in STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCTGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT | GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCGGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT |
Task1_train_24357 | Gene STAT3 (signal transducer and activator of transcription 3), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCATTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT |
Task1_train_24358 | Here is a variant affecting STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; STAT3 gain of function | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCATTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT |
Task1_train_24359 | Chromosome 17 houses a mutation in gene STAT3 (signal transducer and activator of transcription 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT | CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCATTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT |
Task1_train_24360 | With a mutation on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTATCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT |
Task1_train_24361 | Chromosome 17 houses a mutation in gene STAT3 (signal transducer and activator of transcription 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; STAT3 gain of function | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT | TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTATCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT |
Task1_train_24362 | A variant has been detected on Chromosome 17 in STAT3 (signal transducer and activator of transcription 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCATGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC |
Task1_train_24363 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3 gain of function | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC | GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCATGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC |
Task1_train_24364 | This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | ATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAACAAGGCTGGG | ATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGTAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAACAAGGCTGGG |
Task1_train_24365 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | TGTGCTATTTGGACAAAAATAGTTTTTTCAACAGCAACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAG | TGTGCTATTTGGACAAAAATAGTTTTTTCAACAGCAACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATGTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAG |
Task1_train_24366 | Given this context: Chromosome 17, gene STAT3 (signal transducer and activator of transcription 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | ACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATC | ACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTCTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATC |
Task1_train_24367 | This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; STAT3 gain of function | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCTGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC |
Task1_train_24368 | This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC | GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCTGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC |
Task1_train_24369 | A variant found in Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGCTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC |
Task1_train_24370 | A mutation on Chromosome 17 affecting STAT3 (signal transducer and activator of transcription 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; STAT3 gain of function | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGCTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC |
Task1_train_24371 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGTTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC |
Task1_train_24372 | This mutation is located in gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; STAT3 gain of function | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC | AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGTTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC |
Task1_train_24373 | The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTC | TCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCGCGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTC |
Task1_train_24374 | This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG |
Task1_train_24375 | This variant impacts the gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; STAT3 gain of function | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG |
Task1_train_24376 | A variant was discovered on Chromosome 17, affecting STAT3 (signal transducer and activator of transcription 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG |
Task1_train_24377 | Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance. | Pathogenic; Hyper-IgE syndrome | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG | CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG |
Task1_train_24378 | Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; STAT3 gain of function | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGTACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC |
Task1_train_24379 | The following genetic variant occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC | CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGTACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC |
Task1_train_24380 | Here is a variant affecting STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; STAT3 gain of function | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAATGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT |
Task1_train_24381 | Gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT | GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAATGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT |
Task1_train_24382 | The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAACTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC |
Task1_train_24383 | A genomic change on Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; STAT3 gain of function | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC | CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAACTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC |
Task1_train_24384 | A mutation in STAT3 (signal transducer and activator of transcription 3), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACT | TATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGCGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACT |
Task1_train_24385 | Gene STAT3 (signal transducer and activator of transcription 3), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCT | TGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGTCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCT |
Task1_train_24386 | A mutation found in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCCGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG |
Task1_train_24387 | A mutation found in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; STAT3 gain of function | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG | TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCCGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG |
Task1_train_24388 | The following genetic variant occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | GGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATC | GGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGCTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATC |
Task1_train_24389 | This variant impacts the gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGTTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT |
Task1_train_24390 | Consider this mutation in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; STAT3 gain of function | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT | TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGTTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT |
Task1_train_24391 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3 gain of function | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA |
Task1_train_24392 | This sequence variant lies in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA |
Task1_train_24393 | The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA |
Task1_train_24394 | A variant was discovered in gene STAT3 (signal transducer and activator of transcription 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA | AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA |
Task1_train_24395 | Given a variant located on Chromosome 17 and affecting STAT3 (signal transducer and activator of transcription 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAA | CTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCCTTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAA |
Task1_train_24396 | The gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTATTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT |
Task1_train_24397 | A variant found in Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; STAT3 gain of function | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT | TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTATTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT |
Task1_train_24398 | This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; STAT3-related early-onset multisystem autoimmune disease | CCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAG | CCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTCTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAG |
Task1_train_24399 | An alteration has been detected in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATC | ATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTATGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATC |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.