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_13300
|
A variant affecting Chromosome 9, within the gene SET (SET nuclear proto-oncogene), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Intellectual disability, autosomal dominant 58
|
CCCCCCTCCCTCGCTCTCCTCCCCCTCCCTCCCTCCCGAGAAGCCTCTCTTTATTGTGCTCCGCCATGATGCCTCGCTCCCATCAGCCGCCGCCGCCGCCACATGGTGCGGCCGGACGCGGCCCCGCGCCCGACCTCCCGCGCGGTTCCGCTTCGCGCCCGGCCCGCGGCGGCGCCCCCGGCACCCCCGCCCAGAGGCTGGCCCCGGCGGGGCTTCTGCCTGGAGCTCGGGTGGGGTGGGGGCGCGGGGAACACGCGGGCGGCCGCGCGCTGGGCCTTGGCCGGCCGGGAGGATGCTCTGGCCAGCCCGGGCGCACTCCCCACGTGGGGCGGCCGCCCCGTCGCGCCAGCGTGCGGAGAAACCTGGCGCCGCGACCAGTGTATCGGGGGTCTTGGAAATGGCTAAGAAAGCTGGCCTCTGCCTAGGAGGCTCTCGGCAGGGGGGCTGCCAATCCGGGATGGTTACCGGAAATGAACCGCGCGATCTGGCCCTTTCACACCCACTTAGCTTTGTAGGGGGTTTGTAGTCTTTACAGGACAAAAGGGCACCTATTCCAGAGCACACCCCCTTTTCTTCCTCTCCCTTCTGTGCCTCACTGCTTTCCGATCTCATAGTTGCTCCCAGTAAGTGCTCCAAAGTCGTGTGGGGCCGCATCTGAGGTCTGCCCGCCTGAATTGGGTTGGAGGGGTTCATGTTCTGAGAAGGCGAAGGCCAGGGTGTAGGATGGTGCCCCGTGACTTTCCAGTCTTTGTAGGCGTGCCTGGTATCTTCATCGTAATAGCAGAGTCGTCAACTTTCTATGAAAGGTGGTTTTACCTTGATAGGTGGTAGTGGTGGCCTAATTTGTATCATTGTCATGGGTTTAGTTTCCATATTCTAGTTAGCAGCTGCTACTGTTCTCTTGCAAGTGTATAATGTGAAATAATAAACGTGAAGACTTCTGAATAAGGTTATTCTGTGTCTTTCATAGTAGAAACCTTAATGATCGGTCTGTTGTAGTGAAACTCTTTAAAAAGGCGCTATAGAAAACCAATTTCTGAGTAAACCAGCAGACAGCATGACTTGTAAATGGTCTTTTAATTAATTAAAAAGAAATTAGTCAGCTACAAGCATGAACATGTGGAACGCTTGCCTTTGTACTAGGCGTTTTTGTTTTTGTTTTAATGGCTTTTGGAATATTATAGTATTAACATCTGGAAAACTAGGTAAATTTATCTTAGAATTAAGTTTTTTGCTCCTTTTTTGCAGAAAAAGAACAGCAAGAAGCGATTGAACACATTGATGAAGTACAAAATGAAATAGACAGGTAACATTTTTCTTAATATACTTCGGAGAAATTTTCTGAGATGTGTCTAATAGCCCGGTAATTATCGAAGCTATGGTCAAATCTATCCACTGTCAAAGGGGAAATGATTCTAACTTGGTTGGAAATACTTATGTAGATTCAGTGTTTTTTGGTGAAGTGATTGTACAGAAGTTTTTGAAAGTGCATTGACCTTACAAGGTTTGGGTTTGCTTTCAAAGACTGAAAATTGTCTGAATTGCAGTGTAGGTCTTCTGATGGTTTAGCAGTGTGGCATCAGTGGTTGCTCTAACTTGCCTTACAACTTTGTTATGGATTAGCCACTTTATTTAGAAATCGCGCTTGAGGGAAACAATTGAAATTGGACTGGAAATGGAGTGGGCGAAGTAAATACACACGTTACCAGAGTGTTGAGTTTGGGCACTCTTAACAGTCATTATTACTCAGTGTTTATTGATAAATCAGACAAAATTGCCATCTTAGTTTTGAGTGTCTAAATTAGGTGATAATGGTTATTATAATTTGGTTATTTTGCATGACTCAAGCTAGTAAGTAAATACACTCTGTAATCTCAACCAATTTTTTAATTTGTTAAATACTATCATTGTCAACATCTCTTTTCATTTGCTTCAGACTTAATGAACAAGCCAGTGAGGAGATTTTGAAAGTAGAACAGAAATATAACAAACTCCGCCAACCATTTTTTCAGAAGAGGTCAGAATTGATCGCCAAAATCCCAAATTTTTGGGTAACAACATTTGTCAACCATCCACAAGGTATGTTTTGGACAGGGCATTGTTAAAGGATAAACAGTGTTTGTTAGAATGGAGGAAGCTTGGTGAAGACTTAGTCCAGCATGCTGGGTTGCGTGCAACAAAGACAGGCTGGGTGCGGTGGCGCACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGGGTTCGAAACCAGCTTGGCCAACAGGTTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGCGCGCTTGTAATCCCAGCTACTCGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGGGAGGTTGCAGTGAGCCGAGATTGTGCGCTTTTGCATTCCAGCCTGGGCGACAAGAGTGAGACTGTTTCAAAAAAAAAAAAAAAAAAAAAAAAACCTCAAAGACGGGAAAAGATATACAGCTACTGCTTTCTATTCTGTTTAGGAGAAGCTATATTCTAATTGCTTGATGAAAGATAGTGACAGTCTGATATTGAGCAATTGCCTTTAGTTAATAATGGGTTTATAAAACCAAAGATGCTCACTAAGTTCGGAAAAATTTTAAAGGGATCACTTAAATTGTTGTTAGTGTGTGCCTGTTGAAAATTCAGCTGACCTGTAATTTTCTGGCCTAGTGTCTGCACTGCTTGGGGAGGAAGATGAAGAGGCACTGCATTATTTGACCAGAGTTGAAGTGACAGAATTTGAAGATATTAAATCAGGTTACAGAATAGATTTTGTAAGTATCTCTAACTTAATCTTGTTTGCCACTGTGGAAATTAATGTGAGCTTTGGTTGGAAGACCTGTTCATATTTCTAATCTTTCAATTATTTATTACAGTATTTTGATGAAAATCCTTACTTTGAAAATAAAGTTCTCTCCAAAGAATTTCATCTGAATGAGAGTGGTGATCCATCTTCGAAGTCCACCGAAATCAAATGGAAATCTGGAAAGGTATGTTTTGAGGAATTATTTGACAAAAATAGCATTTTGCCTATTTCAGTTTAGTTTTAACCACTTACAAGTGCTTGATACTTTGGTCATGTGGCTAAATACAAAACCTTAAAATATAAAACGTTCCAGTGTGCTGAAGCCAAGTATTACAGTAGTTTAGGGTTCTCATTAGATACTACAGATGTAGGCAGGAAGATCTCTTGAGCCTAGGAGTTTACCCTGGGCAACATAGACCCTTACCTTCCAAAAAACAAAAAAAAAGAGAAAAATCTAGCCCAAGTTTAAGAATTGAGAACTGGACTAAATTTTTTGTTGCTGTTGTTTTCTGCAGTGGTGACTGAGCTCTTCAAATGGCTTGCCATTTCTCAAAATCATTTACATCCGTATTTAGGTAGTAAGACATAGTTTAGATATTTATACTGTGTTGTGCTAGTGGCTGTTAACAGTGGAACTAATTTTATGGAAAACCAAATGTAGTTGATACTACCTCTACCTGCTGCACAGTTTTATAATTGCTCTTAGGTAATAATGGTAGCGTAGATAGTATACTGATATTTGTTTTGCTTAGCTTTTGGGGAAAATCTTATTTTTTAAATTATAGGGAGTTTGGGTGTTATGGAGAGATTGTATCAAAAGCTCTTCCGGTATTCATTTAGGATTTGACGAAACGTTCGAGTCAAACGCAGAATAAAGCCAGCAGGAAGAGGCAGCATGAGGAACCAGAGAGCTTCTTTACCTGGTTTACTGACCATTCTGATGCAGGTGCTGATGAGTTAGGAGAGGTCATCAAAGATGATATTTGGCCAAACCCATTACAGTACTACTTGGTGAGTTCTAATACTCATTTATTCAAGGTTGGACTTGTCTCGGTTGTTTAAAAATGAGTCCTTATATTGTGCTTTTTTTTTTTTAAGGTTCCCGATATGGATGATGAAGAAGGAGAAGGAGAAGAAGATGATGATGATGATGAAGAGGAGGAAGGATTAGAAGATATTGACGAAGAAGGGGATGAGGATGAAGGTGAAGAAGATGAAGA
|
CCCCCCTCCCTCGCTCTCCTCCCCCTCCCTCCCTCCCGAGAAGCCTCTCTTTATTGTGCTCCGCCATGATGCCTCGCTCCCATCAGCCGCCGCCGCCGCCACATGGTGCGGCCGGACGCGGCCCCGCGCCCGACCTCCCGCGCGGTTCCGCTTCGCGCCCGGCCCGCGGCGGCGCCCCCGGCACCCCCGCCCAGAGGCTGGCCCCGGCGGGGCTTCTGCCTGGAGCTCGGGTGGGGTGGGGGCGCGGGGAACACGCGGGCGGCCGCGCGCTGGGCCTTGGCCGGCCGGGAGGATGCTCTGGCCAGCCCGGGCGCACTCCCCACGTGGGGCGGCCGCCCCGTCGCGCCAGCGTGCGGAGAAACCTGGCGCCGCGACCAGTGTATCGGGGGTCTTGGAAATGGCTAAGAAAGCTGGCCTCTGCCTAGGAGGCTCTCGGCAGGGGGGCTGCCAATCCGGGATGGTTACCGGAAATGAACCGCGCGATCTGGCCCTTTCACACCCACTTAGCTTTGTAGGGGGTTTGTAGTCTTTACAGGACAAAAGGGCACCTATTCCAGAGCACACCCCCTTTTCTTCCTCTCCCTTCTGTGCCTCACTGCTTTCCGATCTCATAGTTGCTCCCAGTAAGTGCTCCAAAGTCGTGTGGGGCCGCATCTGAGGTCTGCCCGCCTGAATTGGGTTGGAGGGGTTCATGTTCTGAGAAGGCGAAGGCCAGGGTGTAGGATGGTGCCCCGTGACTTTCCAGTCTTTGTAGGCGTGCCTGGTATCTTCATCGTAATAGCAGAGTCGTCAACTTTCTATGAAAGGTGGTTTTACCTTGATAGGTGGTAGTGGTGGCCTAATTTGTATCATTGTCATGGGTTTAGTTTCCATATTCTAGTTAGCAGCTGCTACTGTTCTCTTGCAAGTGTATAATGTGAAATAATAAACGTGAAGACTTCTGAATAAGGTTATTCTGTGTCTTTCATAGTAGAAACCTTAATGATCGGTCTGTTGTAGTGAAACTCTTTAAAAAGGCGCTATAGAAAACCAATTTCTGAGTAAACCAGCAGACAGCATGACTTGTAAATGGTCTTTTAATTAATTAAAAAGAAATTAGTCAGCTACAAGCATGAACATGTGGAACGCTTGCCTTTGTACTAGGCGTTTTTGTTTTTGTTTTAATGGCTTTTGGAATATTATAGTATTAACATCTGGAAAACTAGGTAAATTTATCTTAGAATTAAGTTTTTTGCTCCTTTTTTGCAGAAAAAGAACAGCAAGAAGCGATTGAACACATTGATGAAGTACAAAATGAAATAGACAGGTAACATTTTTCTTAATATACTTCGGAGAAATTTTCTGAGATGTGTCTAATAGCCCGGTAATTATCGAAGCTATGGTCAAATCTATCCACTGTCAAAGGGGAAATGATTCTAACTTGGTTGGAAATACTTATGTAGATTCAGTGTTTTTTGGTGAAGTGATTGTACAGAAGTTTTTGAAAGTGCATTGACCTTACAAGGTTTGGGTTTGCTTTCAAAGACTGAAAATTGTCTGAATTGCAGTGTAGGTCTTCTGATGGTTTAGCAGTGTGGCATCAGTGGTTGCTCTAACTTGCCTTACAACTTTGTTATGGATTAGCCACTTTATTTAGAAATCGCGCTTGAGGGAAACAATTGAAATTGGACTGGAAATGGAGTGGGCGAAGTAAATACACACGTTACCAGAGTGTTGAGTTTGGGCACTCTTAACAGTCATTATTACTCAGTGTTTATTGATAAATCAGACAAAATTGCCATCTTAGTTTTGAGTGTCTAAATTAGGTGATAATGGTTATTATAATTTGGTTATTTTGCATGACTCAAGCTAGTAAGTAAATACACTCTGTAATCTCAACCAATTTTTTAATTTGTTAAATACTATCATTGTCAACATCTCTTTTCATTTGCTTCAGACTTAATGAACAAGCCAGTGAGGAGATTTTGAAAGTAGAACAGAAATATAACAAACTCCGCCAACCATTTTTTCAGAAGAGGTCAGAATTGATCGCCAAAATCCCAAATTTTGGGGTAACAACATTTGTCAACCATCCACAAGGTATGTTTTGGACAGGGCATTGTTAAAGGATAAACAGTGTTTGTTAGAATGGAGGAAGCTTGGTGAAGACTTAGTCCAGCATGCTGGGTTGCGTGCAACAAAGACAGGCTGGGTGCGGTGGCGCACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGGGTTCGAAACCAGCTTGGCCAACAGGTTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGCGCGCTTGTAATCCCAGCTACTCGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGGGGAGGTTGCAGTGAGCCGAGATTGTGCGCTTTTGCATTCCAGCCTGGGCGACAAGAGTGAGACTGTTTCAAAAAAAAAAAAAAAAAAAAAAAAACCTCAAAGACGGGAAAAGATATACAGCTACTGCTTTCTATTCTGTTTAGGAGAAGCTATATTCTAATTGCTTGATGAAAGATAGTGACAGTCTGATATTGAGCAATTGCCTTTAGTTAATAATGGGTTTATAAAACCAAAGATGCTCACTAAGTTCGGAAAAATTTTAAAGGGATCACTTAAATTGTTGTTAGTGTGTGCCTGTTGAAAATTCAGCTGACCTGTAATTTTCTGGCCTAGTGTCTGCACTGCTTGGGGAGGAAGATGAAGAGGCACTGCATTATTTGACCAGAGTTGAAGTGACAGAATTTGAAGATATTAAATCAGGTTACAGAATAGATTTTGTAAGTATCTCTAACTTAATCTTGTTTGCCACTGTGGAAATTAATGTGAGCTTTGGTTGGAAGACCTGTTCATATTTCTAATCTTTCAATTATTTATTACAGTATTTTGATGAAAATCCTTACTTTGAAAATAAAGTTCTCTCCAAAGAATTTCATCTGAATGAGAGTGGTGATCCATCTTCGAAGTCCACCGAAATCAAATGGAAATCTGGAAAGGTATGTTTTGAGGAATTATTTGACAAAAATAGCATTTTGCCTATTTCAGTTTAGTTTTAACCACTTACAAGTGCTTGATACTTTGGTCATGTGGCTAAATACAAAACCTTAAAATATAAAACGTTCCAGTGTGCTGAAGCCAAGTATTACAGTAGTTTAGGGTTCTCATTAGATACTACAGATGTAGGCAGGAAGATCTCTTGAGCCTAGGAGTTTACCCTGGGCAACATAGACCCTTACCTTCCAAAAAACAAAAAAAAAGAGAAAAATCTAGCCCAAGTTTAAGAATTGAGAACTGGACTAAATTTTTTGTTGCTGTTGTTTTCTGCAGTGGTGACTGAGCTCTTCAAATGGCTTGCCATTTCTCAAAATCATTTACATCCGTATTTAGGTAGTAAGACATAGTTTAGATATTTATACTGTGTTGTGCTAGTGGCTGTTAACAGTGGAACTAATTTTATGGAAAACCAAATGTAGTTGATACTACCTCTACCTGCTGCACAGTTTTATAATTGCTCTTAGGTAATAATGGTAGCGTAGATAGTATACTGATATTTGTTTTGCTTAGCTTTTGGGGAAAATCTTATTTTTTAAATTATAGGGAGTTTGGGTGTTATGGAGAGATTGTATCAAAAGCTCTTCCGGTATTCATTTAGGATTTGACGAAACGTTCGAGTCAAACGCAGAATAAAGCCAGCAGGAAGAGGCAGCATGAGGAACCAGAGAGCTTCTTTACCTGGTTTACTGACCATTCTGATGCAGGTGCTGATGAGTTAGGAGAGGTCATCAAAGATGATATTTGGCCAAACCCATTACAGTACTACTTGGTGAGTTCTAATACTCATTTATTCAAGGTTGGACTTGTCTCGGTTGTTTAAAAATGAGTCCTTATATTGTGCTTTTTTTTTTTTAAGGTTCCCGATATGGATGATGAAGAAGGAGAAGGAGAAGAAGATGATGATGATGATGAAGAGGAGGAAGGATTAGAAGATATTGACGAAGAAGGGGATGAGGATGAAGGTGAAGAAGATGAAGA
|
Task1_train_13301
|
This variant affects gene DOLK (dolichol kinase) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
|
Pathogenic; DK1-congenital disorder of glycosylation
|
TCCATTCACTATCTGTGTAGTGTACAATTCTGGGAGGGACACAGTGCAGATGGACTCCCAAATCTACTGATTTCCTGCTCCTTGTCAGTGCCCTGTGCTAGCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTGCTGTTCAGCCCATCTTTCTCTATGGACACCACTCAGTGGGACACCAGAGGCGGGGTGGGGTTGGCTAAAACAAGATCCAGCCCAAGCAGGATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCCAAGGTCACAAAGTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTTCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCTAGTAGGTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCAGGCTGGTCTCGATCTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCA
|
TCCATTCACTATCTGTGTAGTGTACAATTCTGGGAGGGACACAGTGCAGATGGACTCCCAAATCTACTGATTTCCTGCTCCTTGTCAGTGCCCTGTGCTAGCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTGCTGTTCAGCCCATCTTTCTCTATGGACACCACTCAGTGGGACACCAGAGGCGGGGTGGGGTTGGCTAAAACAAGATCCAGCCCAAGCAGGATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCCAAGGTCACAAAGTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTTCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCTAGTAGGTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCAGGCTGGTCTCGATCTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCAGAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCA
|
Task1_train_13302
|
This mutation occurs in DOLK (dolichol kinase) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; DK1-congenital disorder of glycosylation
|
GCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTGCTGTTCAGCCCATCTTTCTCTATGGACACCACTCAGTGGGACACCAGAGGCGGGGTGGGGTTGGCTAAAACAAGATCCAGCCCAAGCAGGATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCCAAGGTCACAAAGTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTTCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCTAGTAGGTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCAGGCTGGTCTCGATCTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCA
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GCCTTGGGGGATGGGGTGGGGAGTGAGGCAGTGCCGGAGCCTGTCTTCCCAGCCAGAGAGCAAGGCTGCAGCGTGGGCCCCTCATACAGTCATTTTACCTCTCAGGAAACTCCCCCAGCCCCTGTGGATCTTTCCTACCTTAGGAAAAGACAAACACAGGTTTGGATAGGATTAGAACATGGAAAGGTCTTAAGAAGGGCCCCTTGATGAGGTCCTGGTGCTGTTCAGCCCATCTTTCTCTATGGACACCACTCAGTGGGACACCAGAGGCGGGGTGGGGTTGGCTAAAACAAGATCCAGCCCAAGCAGGATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCCAAGGTCACAAAGTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTTCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCTAGTAGGTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCAGGCTGGTCTCGATCTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTCTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCA
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Task1_train_13303
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A variant affecting Chromosome 9, within the gene DOLK (dolichol kinase), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; DK1-congenital disorder of glycosylation
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ATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCCAAGGTCACAAAGTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTTCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCTAGTAGGTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCAGGCTGGTCTCGATCTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCACCCACGTCCCTGCTGCAGGCTCCCAGTGTCCTGCCCCGGCGTCGAGTGCGCCCTGCTGGCTCCCCGACCTCTCCCGCGATCTGTTCTTGTTAGGATTTTGTTTCGCGTTGAGCGGAGCCACGCTTGCGGCTTCTGTCCTCTCCGCGCCTCGTATCGTTCTTTTCTTGCACTGAATCAAGTCAGCCAGCATGTCCAAATCCTCCAAGAGATTTCAGGGATTGAACTAGGCTTTAGGGACAAGAAGATGAAATATTATATACGAAAACTACAATTCTGACAAAGTGCTTTCTAGCGTCAGACCCTGGTGGAG
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ATCTGATCCTCCCTCAACCCTGCCAAAGTTGACCCACCTCTCCCTTCAGTAATTCCTAGCCCTCTGCTCTTTCCCTCAGGAGTTCTCCACCTCCAAGTGAAGCCAGGAGAGCAAAGGTCACTCTGGTTTCCAAGTGGTTTGCCCAGCTTTTCGGCTTTTCACTAAGATGAGGACTGGTCTTTGGTAAAAATGACTCCCTTTCTGACTGCTTATCAAGGGTGGGCTCTAGGCTGGACCCTCACAACACCCCGCGAGGTGTGGGCTGTCATTACTCCCATCTGCAAGAGAATTGAGGTTCAGCCTGGCTAAGTGACTCACCCAAGGTCACAAAGTTGTTTTTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCGCGATCTCAGCTCACTTCAACCTCCGTCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTCTAGTAGGTGGGATTACAGGCATATGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCAGGCTGGTCTCGATCTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGAACAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCACCCACGTCCCTGCTGCAGGCTCCCAGTGTCCTGCCCCGGCGTCGAGTGCGCCCTGCTGGCTCCCCGACCTCTCCCGCGATCTGTTCTTGTTAGGATTTTGTTTCGCGTTGAGCGGAGCCACGCTTGCGGCTTCTGTCCTCTCCGCGCCTCGTATCGTTCTTTTCTTGCACTGAATCAAGTCAGCCAGCATGTCCAAATCCTCCAAGAGATTTCAGGGATTGAACTAGGCTTTAGGGACAAGAAGATGAAATATTATATACGAAAACTACAATTCTGACAAAGTGCTTTCTAGCGTCAGACCCTGGTGGAG
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Task1_train_13304
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This sequence variant lies in DOLK (dolichol kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; DK1-congenital disorder of glycosylation
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TACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCACCCACGTCCCTGCTGCAGGCTCCCAGTGTCCTGCCCCGGCGTCGAGTGCGCCCTGCTGGCTCCCCGACCTCTCCCGCGATCTGTTCTTGTTAGGATTTTGTTTCGCGTTGAGCGGAGCCACGCTTGCGGCTTCTGTCCTCTCCGCGCCTCGTATCGTTCTTTTCTTGCACTGAATCAAGTCAGCCAGCATGTCCAAATCCTCCAAGAGATTTCAGGGATTGAACTAGGCTTTAGGGACAAGAAGATGAAATATTATATACGAAAACTACAATTCTGACAAAGTGCTTTCTAGCGTCAGACCCTGGTGGAGCGCTTCCCAGGAGTTATCTCATTCAATTCTCGCAACTCCGAGAGGCGCCTTCTATTTCACAGATGACTCAGAAGTCCGGCTCAGAGCTAGCCAAGTGATAAAGAGAGCCTTCAAGCTGAAGTCTGCGTACCTCCAGTGCTATAACCAGACCACCACGCCTCCTTCTGTCTTCCACATTGCAGCTCGAAGGTCTTCGTTCTTCCCACCACCCTCCCTCAAAGTTAAACATCCCCGTCTCTTATCCTTCCCTGTGCCAGCAGTGTTTTCCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGATACAGGCACCCGCCACAACGCCTGGCTAATTTTTTGTATTTTCAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCCGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTAACAATATTATTATATAACAAGATTACTTT
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TACAGGCATGAGCCACCACGCCTGGCCATTCAAGGTCACAAAGTTAGTAAGAAGCTGTGCAGCCAAGGATTCTGACCAGATTAGTTTGACCCAGAGACTAAAGTGTTAACCATTATGCTTTACTCCCTCCAGTGTCCACTCTGGCCTCCTCCGAGGCTGCAGGGCGAAAGAGGGGGCTCTATAGCACACTCAGGTTCTTTGAGTTGCTGGACTATCCCTTAAGACTCTTTTCTTTTTAAATATCAGCAAGGCTGGGATGGTGGCTCACGCCTGTAATCTCAACACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCTCCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCACCCACGTCCCTGCTGCAGGCTCCCAGTGTCCTGCCCCGGCGTCGAGTGCGCCCTGCTGGCTCCCCGACCTCTCCCGCGATCTGTTCTTGTTAGGATTTTGTTTCGCGTTGAGCGGAGCCACGCTTGCGGCTTCTGTCCTCTCCGCGCCTCGTATCGTTCTTTTCTTGCACTGAATCAAGTCAGCCAGCATGTCCAAATCCTCCAAGAGATTTCAGGGATTGAACTAGGCTTTAGGGACAAGAAGATGAAATATTATATACGAAAACTACAATTCTGACAAAGTGCTTTCTAGCGTCAGACCCTGGTGGAGCGCTTCCCAGGAGTTATCTCATTCAATTCTCGCAACTCCGAGAGGCGCCTTCTATTTCACAGATGACTCAGAAGTCCGGCTCAGAGCTAGCCAAGTGATAAAGAGAGCCTTCAAGCTGAAGTCTGCGTACCTCCAGTGCTATAACCAGACCACCACGCCTCCTTCTGTCTTCCACATTGCAGCTCGAAGGTCTTCGTTCTTCCCACCACCCTCCCTCAAAGTTAAACATCCCCGTCTCTTATCCTTCCCTGTGCCAGCAGTGTTTTCCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGATACAGGCACCCGCCACAACGCCTGGCTAATTTTTTGTATTTTCAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCCGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTAACAATATTATTATATAACAAGATTACTTT
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Task1_train_13305
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A genetic alteration is present in DOLK (dolichol kinase) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; DK1-congenital disorder of glycosylation
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GGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTCATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCACCCACGTCCCTGCTGCAGGCTCCCAGTGTCCTGCCCCGGCGTCGAGTGCGCCCTGCTGGCTCCCCGACCTCTCCCGCGATCTGTTCTTGTTAGGATTTTGTTTCGCGTTGAGCGGAGCCACGCTTGCGGCTTCTGTCCTCTCCGCGCCTCGTATCGTTCTTTTCTTGCACTGAATCAAGTCAGCCAGCATGTCCAAATCCTCCAAGAGATTTCAGGGATTGAACTAGGCTTTAGGGACAAGAAGATGAAATATTATATACGAAAACTACAATTCTGACAAAGTGCTTTCTAGCGTCAGACCCTGGTGGAGCGCTTCCCAGGAGTTATCTCATTCAATTCTCGCAACTCCGAGAGGCGCCTTCTATTTCACAGATGACTCAGAAGTCCGGCTCAGAGCTAGCCAAGTGATAAAGAGAGCCTTCAAGCTGAAGTCTGCGTACCTCCAGTGCTATAACCAGACCACCACGCCTCCTTCTGTCTTCCACATTGCAGCTCGAAGGTCTTCGTTCTTCCCACCACCCTCCCTCAAAGTTAAACATCCCCGTCTCTTATCCTTCCCTGTGCCAGCAGTGTTTTCCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGATACAGGCACCCGCCACAACGCCTGGCTAATTTTTTGTATTTTCAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCCGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTAACAATATTATTATATAACAAGATTACTTTCCAAAAATTTAACAAATCGTTTTGTATATTGAGATTTTTTGCTTTTAGAGAGCAGACAAAATGGCTATGAGGCAGTGTACAAGTTTGTATGATCAGAAAGAGCAAAATTACCTCTGTTCTCTCATTTTGCAGGAGCAGTAGAGAACTGTGGACTATTCTGCTTGGAAGGTCAGCTCTGAGAGAGCTGGTAAGTGGTGGTGTTCTTGAGTGGGTTCTCTGGGTTCTTTGTGTAGCTTTTGTTACCAAAAAAAACCTTTTTTTAAATGTAGGAAGTAAACACATTTATTTATTT
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GGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGATCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTCAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGGGACAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAACCTGGGCAACAAGAGCAAAACTGTCTCAAAAAAAAATAAAAAAAAAAATATATCAGCAAAACTAGAACTAGGAGAGCTTTGCTTTTTATTTTAAATCTGAATCAACTGAAAAATCAAATCTGCTTTTCACACCTTGGCTCTTCATGCCCAAGTAGCTGTCTGCTGTGGGGACTGTTCACCCTCCCCATGTCTGTTTCCTCCGTCACTGCTGCTGCACTGTAACAGCTAGGCCATCAGCAATATCAGGAGGTAGAGAGGCAGAAGGAGATTGTCTATCTGTGTAGTGTATGCTTCCAGGAGGGACACAGTGCTGATGGACCCCAAAATCCAAGCATAACTGTAGTTTAGGTCCACTCCACTGTCAAAGATTAAGATCAGAGCTACAGAAATGATCTGCGCAAATATAGATGTCATGGTCCCCTCAAAAGTCTTTTTGGTTCCAGGCCAGCGGATCTCCCCCATGGTGCTACCGAAGATGGAGGCCACAGTATCACCCACACCCACAGCCAGGACACCGGCATAGGGGACGAGGGCCCTGGCTCCTCCCAGGCTACCCTTCTGTGTGCAGGGTCTGGGGATCAGCCAGATGGGAAGAGACATGCCCAGGAGCAGGTAGATGTGTGTCAGAATGAGTGGTCCACTGTCTCGTTCATCCAGAAAAAGGGACAGGAAGCTCCGTAGAGTGTGACCCAAAGGCTTGATGCGGAAGTAGCGCACATACTCCAGGAAGATGAAGACCGCCAGGCATACAGTGGCGGCTACATAGAGCAGTGGCCGGTCAAAGATGATACCTGGGATGTAGGTGGCTACCACAATGAGGTGGAAATACTTTCGGGCGATGGTGGGGGCCTGGTGCTTCTTGGACTCGGAAGATGACCGCTTGGCATTCTGGTACAGCACCACCAGGCAGGCCAAGGTGGCCAGCAGAGACCAATAGGCTAGGAGGTAGATGCGGGTGTCTGTCTGGAAGAGAAACTGAAGAAGCCAGAGCAGGGGATTCCTGCGGATGAGCCGGTGCAGCCAGGGTAGGACCACACCAAGGCTCAGCACACAGGTCATGAGGTGGAAGAAGATGGAGGAGGCCCAGGTGCCTGAGTCCATGAAGACAAACAGAGTGCTGAAGAAAATGCCCATGAGTACCATCCCTACTACCACCACCAGCAGGAAGAAGTCCACTGGGTCCCCCTGACTTTCCACCAGTGTCAGAGAGCGCTTGATGAGCTGGTTGAGGACAAAGCTAATGCCACCCAATACCAGCAGTGCCTCACCAGGGGTGAAGCAGCGGGGCAGCAGGTACAGCAGGATCATGTTGAGATAAACGAAGATCAGAAGGACTTCCAGGACTTCGATCACCTCCCCCACGCTCAACGAGTGCTTCATGATATAAATGATAACACCTCCAGCCAAGCCCAAGATGACACAAGTGTTGGTTGGCACTGGGCGAGTGATGCCGAGCGCCAACACTGATGAGAAGAGGGCCACTGCCATGCCAGTGGCTGCCACCACAATGCCAAAACGCTCAAAGAACGGGTTCCCAGCAGTCTGGCACCGCTCCTTCATGACTAGTCCAAGCAAAGGCATGACCATGGAGGCGGGCAATAGGCCACTGTTTGCGGACATTCGGAACTGGAAGACGGCGCTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTGGACGTAGAAGGCCTGCACTGCGAGGGCCACGGCGCACCACGAGTATCGGTCCCATACGGTTGCGTGGATGCTCAGCACCACTGCAAACACTACTGCCGCCTCTGCCAGCACCGATCCACTCAGCGGAGCCCCAGGCCCCGGGGCCGGAGATGGGCACTCTCGGGTTATATCTCTAGACCTGGGGCTTCACGGAGGCCGGGGCGACTACGGACGCCCTAGACTTCGGGCCCCTCAGCCCCGTCAAGCAGAGGGAGGCACTTTCACCCGGCCAGCAACCTTCTCCCTCCGTTCTCCAGCAGCGAGGAGGGAACTCCACCGCAGGTCACTTCTGCGGCCTGGGAGCTGGCGCCCGGCCACCCCCCACAGCCTCCAACCTACGGCGTAGACGTCGCCACTCTGCAGCCTTCCTCACAGTTACAGCCGCCCCCGCTGCCGGCTCCTCACCTCTTTGGGCCTCGCCATCTTGGCACCGCCCCGCGGCAACGTCACGTGACGAAATCCCCGCCCACGCTCCGGGTCCGGGGGCGAGCGGTCACGTGGGCATGGCGTCTGGGGGCGGGGTTAGGGCGAGCGGGCGCGCGAAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGGAGCGGGTCGAATGGACCGGGGTGGCTGTGAAGCGCGGTGTCAAAGCCGAGCGGAAGCGGGGCGGGAATTGGAGGCGGGATGTGGCGACAGTGGCAGGGCCAACCCCGGCTGGATGGACGGGCACCGAGACGGGAGGCGGTTACGTCCAAACGGTCCCCGCGCGCGGGGATCTGAAGAGTCTTCTTCAGGAGGGGGGCCGGCTCTTCACCCCTTCCCTCCGCGCTCGGCCTCCCATCTCCTCACCCAGGGCCCTTTGCCTTCCTCCTCTCTCACCTCCGACGCGTCTCTTGGCGCCCCACCCGCGCTTCCTTCTCCGGCCGTGACGCTCCCTCGAGCCACGGGGAGCTTTGCGGTCTCCTGGGGTACCCCCCACCCACGTCCCTGCTGCAGGCTCCCAGTGTCCTGCCCCGGCGTCGAGTGCGCCCTGCTGGCTCCCCGACCTCTCCCGCGATCTGTTCTTGTTAGGATTTTGTTTCGCGTTGAGCGGAGCCACGCTTGCGGCTTCTGTCCTCTCCGCGCCTCGTATCGTTCTTTTCTTGCACTGAATCAAGTCAGCCAGCATGTCCAAATCCTCCAAGAGATTTCAGGGATTGAACTAGGCTTTAGGGACAAGAAGATGAAATATTATATACGAAAACTACAATTCTGACAAAGTGCTTTCTAGCGTCAGACCCTGGTGGAGCGCTTCCCAGGAGTTATCTCATTCAATTCTCGCAACTCCGAGAGGCGCCTTCTATTTCACAGATGACTCAGAAGTCCGGCTCAGAGCTAGCCAAGTGATAAAGAGAGCCTTCAAGCTGAAGTCTGCGTACCTCCAGTGCTATAACCAGACCACCACGCCTCCTTCTGTCTTCCACATTGCAGCTCGAAGGTCTTCGTTCTTCCCACCACCCTCCCTCAAAGTTAAACATCCCCGTCTCTTATCCTTCCCTGTGCCAGCAGTGTTTTCCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGATACAGGCACCCGCCACAACGCCTGGCTAATTTTTTGTATTTTCAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCCGCCCGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTAACAATATTATTATATAACAAGATTACTTTCCAAAAATTTAACAAATCGTTTTGTATATTGAGATTTTTTGCTTTTAGAGAGCAGACAAAATGGCTATGAGGCAGTGTACAAGTTTGTATGATCAGAAAGAGCAAAATTACCTCTGTTCTCTCATTTTGCAGGAGCAGTAGAGAACTGTGGACTATTCTGCTTGGAAGGTCAGCTCTGAGAGAGCTGGTAAGTGGTGGTGTTCTTGAGTGGGTTCTCTGGGTTCTTTGTGTAGCTTTTGTTACCAAAAAAAACCTTTTTTTAAATGTAGGAAGTAAACACATTTATTTATTT
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Task1_train_13306
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A genomic change on Chromosome 9 affects TOR1A (torsin family 1 member A). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Early-onset generalized limb-onset dystonia
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TAGTGAGCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTCGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGC
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TAGTGAGCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTCGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTCGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGC
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Task1_train_13307
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The gene TOR1A (torsin family 1 member A), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Arthrogryposis multiplex congenita 5
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GCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTCGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGCCCGCCA
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GCCGCGATCGTGCCATTGCACTCCAGCCTGGACAGTAAGAGTGAAACTCCGTCTCAAAAAAAATTCTAGTTATGCTAATCTGATCTCAGCTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCTTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTCGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGCCCGCCA
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Task1_train_13308
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A variant was discovered in gene TOR1A (torsin family 1 member A), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; TOR1A-related disorder
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CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTCGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGCCCGCCAGGCTTCCCACGGTCTGCACCTCCACCCCAAATCTCGCCTCTTCTATCACCTCCCGTTTCCCTCCTCTGTTTATCCTCAACCAGTCACAG
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CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTTGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGCCCGCCAGGCTTCCCACGGTCTGCACCTCCACCCCAAATCTCGCCTCTTCTATCACCTCCCGTTTCCCTCCTCTGTTTATCCTCAACCAGTCACAG
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Task1_train_13309
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This variant lies on Chromosome 9 and affects the gene TOR1A (torsin family 1 member A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Dystonic disorder
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CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTCGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGCCCGCCAGGCTTCCCACGGTCTGCACCTCCACCCCAAATCTCGCCTCTTCTATCACCTCCCGTTTCCCTCCTCTGTTTATCCTCAACCAGTCACAG
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CTTAATTACACATAATCCAGTATTGTCTCATCAGTGAATTGCTAACACCCACCCTCTTCACAGGATTAAGGATTAGCAGATTTACTAGAAAGCACAAACCCTCATCACCATCACCCCACCCACTCCCTTATTTTCTCAGCTGAAGTTACTCAATTCCCAGGAGACTGACTTTCTAGGTCTGGTTCTCAGTCTTAACGCAGTTCCTATTCTACCTACACTGCCTCATCTACTAAGACTGAACCTTCCAAAACTGTCAGGGGACCCGTGTTCTCTAACTAGGGACTTCTGGTGCCTGGGCCACACTCTTCAAAGGAATGATTAGACCTAATCTGTGACTCCCAGGGACATAGCAGGCTGGCTGCAGCTCAATACCAAGAACTTTCTAACGCTTGGAGCCATCTTTAGGTGCCCTGGGCTGCCCTAGGGGGACCCCATGCAGGCTGGGAAGCCATAAGGCAGAGGGTTCCTGCGTTAGACCTGCAGTCGAGGCCACAAACTCGTCTTCTGTGCCTACTAGAAGTGGCCCCTGCAGTGCTCTCTGCAGCAGCCGCACCCATGGGAGCACTGCCCACGTGCTGGGACACAGGCATGTTGGATAAAATAAGGTGTGCTTACCTTAGTCTACGGCACTGTTCCTGCTGGCATCTCAGCTGTACTTGAACTCCGTGGCTGGGTGTCAGGAGCTCCAAGAACCCCACAATGGAGGGCGACTTCCCAGACCACTGGGCGAGGGGACAGAGCCATCCTAGGATCCTCAGATCCCTGTGTGAGACTTCGTTTCTTTCCAACCTGGATTGTTCTGCTAGGTCTTCACTCGCAGCCTTACCTCATAAGGTCTACAGTGGAGGGGCGCTTCTCCCTCTTCAAAAACGTACTCACCAATGGCACATGCAAAATTTTATTGTAAAACGGTAGCCATTTGCATTTATAAAGAAAGACACCGTTCTCAGCATCCTCAGAAGGGGCAGCTAAGCTTTATAGGAGGTTTCGGGGATTCTGATTGAACGTAACAAATAATAGTATAAATGAGGAAGATTTAATATGGCAAAATTCACATAATTTAGAATCCAGCAGAGAGCACGTGTGGGCTATTTGGAATGGACAGTGAAGGGCCACCTTTTGCAAAACGGAGTGACTGGCAAGTGACAAGTTGGAAATACTTTTCTTTCAAAAGACTGGTTCTAACAAATGTTGACAGTGTGGCCAAAATCACTCCCACAGCTCCCATTGTTGCTAAGGTGAAAACCCTTGGAGAGGCTGTTTCAGGCTTATCTGTGGTGCCTGAAGGCGTCCTCTTACCTACTTGTCCTTCACCTAAACACTTCACTGCCCCTGGCAGCATCCGCTGGGACCATCCTGGGACAGAGCTGGCTCATGCTCCAGCCACATCCCCAGGGATGCCCTCCTGTGGAACAAATGCCATGCATGTGTGCTTGGGCTCATTTCCAGTAAAGATACATCACAGTCTATGTAATAATGATGAGAACTTAAAAAAAAACACACACACAAGGCCAACAACTTAGAATCTGAGCAGTCTCTCATAATGTTAAAAATCATTTTAAATAAAGTTACCACATTTTCAATAAAACTTATTCATCCTTCCTTGAAACAGAAACACTTGGAATTAAAACATAATTTGTAAAAAATCATGAGCCCTGCGATGAGTGGGCTGGGAGCTGGCTCCTTCCTTCTGTGCGTGTTCGGGAGGCTTCACGTCCTCGCCCGTGGTCCCTGGGTGGCCTGCAGGCACCAGGGGGTGGAAACAATGCCAGGGAGAATTCCTGTCACATCAAACAGGAACATTCACTGGATTCCTCTTCCAGGGAAAGGAGCTGGGGGTGGAAGTGTGGAAGGACTGAGTGTTGTTTCTTTTCCAACTCCAGGCAGTGACTCCGGCTGCCAATCATGACTGTCAATCATCGTAGTAATAATCTAACTTGGTGAACACCGTTTTGCAGCCTTTATCTGAGAAAACTCTCTCCTCTTTGGGGAAAAATGTCATCTCCTCAGCCACTCTGCTTACAATGTCTTCATCAATTTCATAGCCTTGGGACTGCATTTCCACTCGGATACACATTTTTAGGTGTTTGTATTCCAGGGGGAGGAAGGGAACAAAATAATCAATGAGGTTCCGGTCAATTAAGCTGCTGTGCCAGAAGCCACCTGGGAAGAAGAAACAAGGTGCTGTTCATCCACATCCACCCACCTGCCCTATAGACGCCTCCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTACTGGGGGTCACCTATCCATGCCACACACACCTACTGGGGGTCACCCACCCACCCCCCCCACATCTACTAGGGGTCACCCACCCTCCCATCCATCCCATACACACCTACTGGGTGTCATCCACCCTCCTATCCATCCCATACACATCTACTGGGTGTCATCCACCCTCCTATCCATCCCACACATACCTACTGGGTGTGCCCTCTCCCTTGTGGAGCTCCAGATCAGTGGGGAAGGCAGATGTTAACAGGCACCTGCACATTGTAATGCTTCTGTGACAGCAGAAGCTGTGACAGCCCTCTTTACACGGCGGGCTGGGGGAGGCCTCCCAAGGTATGACTTAAGAGATCGAAGATGGGAAAGAGGTCCTGGGGCCCAGGAACAAGCAGAGAGGCAGAGTGGGGAAGGCAGAGTTCCACAGAAAGCGGGAAGCAAGAAGAATTCCCGGGAAGGACTACCAGCCACGCCTCTGTATTTGGGAACTTTTTGACTCTCCCTGGAGTTTCAGCAGCTGGACTAGCAACAGGGAAGCCTGCTGCCGCTGCCACAGTGCCCAGACCCTGCAGAGCATGTGGGCACCAAAACTAGCCTGGAGAGTGCAGATGTGCAGCCCACGCTGGGCTCCCCGTGAAGGCCTGGCCTTGGCCGTGTTTTCTCCCCTGAATGCGGGCTGGCTCTGCACTGACCCGTCCACTCCTCCTGGGCTCCTGGAACTCCTGACCCAGGACACTTCCTCCCAGCCCCAGATGACACAGCACACACTGCGTCGCCCACGAGCCCATGCGTGTCTTCTACTGAGCTGATTCCCTTCTGGTCTGCCATGTAATTCTGGGGCTCCGTCCCCAACCCAAGCTCCTCCTCATTCACTGGGTTAATGCTTTTCATGCCCAACAGTGCTTTGCACACAACTGGTACTCAATAAATGTGTGGCTGACTGACAGAGTGGAGCCTATGGCCAGGGAAAGAACAGAACCAACCACTGAATGGGAACGAGGGGCTGTCTTGCTATCATGAACTCACGTGGGAGGCTGGTTCTCAGAGGCCTGCTCTGTGCCAGGCACGCCCTGGGCCTGGGGACACAGCTGAGGGCAGACGGACCTCACGGCTTTACCACTCTAGGGCAGGAAACAATCTCAGATGGTGCTTGGAGTGGCGAATGCCACACAGCAGAACGGACATGGAGAGCGGGAGGTGGAGCAGGCTGGGCAGGACCTCAGGGCAGAGCCCGAGCAACAAGGACCCAGCCACGCAGACCCAGGAGTGACGGCAGAACAGGTGACCTCAGGCAGCCCTGAGACTTCACAGTCATCTCCTGAGGACTCCCAAGTTTGCCCTCCTGGCCTGATGGCCTCCCTGGAGCTTCGTGGCTCTGCTCTGATGCCCTGATGCCATTGCCCACTGAGCTCGCCCGTCCTTCCTGCTGTCCCTTCCCTTCAATGGCAGTGCCACCCTTCCCATCGCTCAAGCCAGGTCCTTGATTCTTCTCTCATTCCCATATACAATTCTGCAGGAAGTCTTACAGGTTCTACCTTCAAAACACACCCAGAAGCCAACCGTGTCCCTCCACCCCCACCGCTTCCACGCTGGGCTCCCTGCCCCTGTGGCTGTGGGTCTGTCCTCCATCCAGTTGCCAGCAAGGTCCTGTGAAGGCCCCGTCAGATCACAGCACCACCTGCCCAGGACCCTCCAGGCCTCTCTCTTCCACTTGGAATAAGACTCAAGGTTCACCATGGCCCGCCAGGCTTCCCACGGTCTGCACCTCCACCCCAAATCTCGCCTCTTCTATCACCTCCCGTTTCCCTCCTCTGTTTATCCTCAACCAGTCACAG
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Task1_train_13310
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Mutation context: Chromosome 9, Gene ASS1 (argininosuccinate synthase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Citrullinemia
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CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTG
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CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACTGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTG
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Task1_train_13311
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A variant was discovered in gene ASS1 (argininosuccinate synthase 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Citrullinemia type I
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CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTG
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CCATCCTGGGCAACAACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACTGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTG
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Task1_train_13312
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A variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Citrullinemia type I
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ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAG
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ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCCCCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAG
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Task1_train_13313
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Chromosome 9 houses a mutation in gene ASS1 (argininosuccinate synthase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Citrullinemia
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ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAG
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ACAGCAAAACTCTGTAAAAAAAACCAACCAACCAACCAAACAAACACAAAAACACATTTATCCTAATGTTTTTTATATATCCTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCCCCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAG
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Task1_train_13314
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Gene ASS1 (argininosuccinate synthase 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Inborn genetic diseases
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CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGA
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CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCACCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGA
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Task1_train_13315
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A variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Citrullinemia type I
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CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGA
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CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCACCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGA
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Task1_train_13316
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This genomic variant is located on Chromosome 9, within the ASS1 (argininosuccinate synthase 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Citrullinemia
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CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGA
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CTTAGTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCACCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGA
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Task1_train_13317
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Here is a variant affecting ASS1 (argininosuccinate synthase 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Citrullinemia
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GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGACAGT
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GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCATAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGACAGT
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Task1_train_13318
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Consider a variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Citrullinemia type I
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GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCACAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGACAGT
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GTCCCAATTGCTTTCTTTTCTATGCCTTTTTATTTCATTTTTTAAAAGGATTTTTTTCAAAATAATTATAGACACAGGAAGTTGCAAAAGCAGTACCAAGAATTTCTCGACTCTTAAAAATTATTGAAGGCCTTGGCTGGGTGCGGTGGCTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAAGTGGGCAGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACCAGCCTAGTTTCTTTAGTAGAGAAACCCCACATGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGAAGGCAGAGGTTACAGTGAGCCAAGATTGCACCTCTGCACTCCAGTCTGGATGACAGAGAGTCCATCTCAAAAAAATAAAAATTACTGAAGGCCTTAGAGAGCTTTTGTGGATTACATCTGTTGATATTTATCACATTAGAAATAAAAGCTGAAATGTTTTAAATGAACAGTTCATGTTAACATAAGTAACATTACACTTATGAAAAATAACTATTTTCTCAAACAAAAAATTTTAGTTAAGAATCTTATTGGCTTCCATTTTTGCAAATCTCTGTAATGTCTGGCTTGACAGAAAACAGATGGACTCTTGTAGCGGTTTTCTGCATTCACTTGTTTTTTCGTTTGTTTGTTTGTTTTTCTTTTTTAGCCTCCCAGGGCTTCCTCGCTATGTGATGCCTTGTTTTATTGAAGTTTATGAAGAAAACTGGGCAACACAGTGAGATCCCATCTCTACAAAAAATAAAAAACTTAGCCGGGCGTGGTAGCACATGCCCGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATTGCTTGAACCCAGGAGGTTGAGGCTGCAGTGAGCTAGGATCACACCACTGCACTCCAGTCTGGATGACAGAGAAAGACCCTGTCTCAAAAAAACAAAAAAAAAGTTTTCACTCAGTGTCTCCCTGAAAAGTCATTGGGAACCCCTGGGGGTCTACATTTCAAGAACCATTCCTCTGGATCGGGGTTTCTCAGTCTTGGCCTTGTTCCCGTGTGGCTGGCCGTCCTGTGCACGGGAGGATTTTAGCAGTATCCCCATAGCCTTTACCCACTAGATGCCAGAATTCCACCCCCCACCTGGTAGTTGTGGCAACCAAAAATATCTCCAGATACTTCCAAATGCCTCCCCTACTCCCACCCCCAACAGGGACAAAACCGTCTCTGGTTGGGAACTACTGCTGTGAGATCTTAGGTGACAACTAAGTTTCATCTTGTTGGGGCTGATTTAGAAGCCACATCCAGTTTCACAGAACGGTGCATCAGGATTGATTAGCAGGCTGGCCGCGGTGGCTTGTGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCTGGATCACCTGAGGTCAGGGGTTCAAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCAAGCCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGGGAGTTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGTTGAGACTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTTCGACTCAAAAAAAAAAAAAAAAAGAGAGCTATTGATTAGCAATGTCTGCCATGAGTGCAGGAGGGAGAGTAACAGTGCAGTGTGCTGGGATTGATGAATGATGTCTACTACAGATGCAGAAGAAGAAGCACCAGGTACAGCGGGGGTGGCCCCGTATAGGTCTCAGCTAGCTGAGGCCCCTGGGGCTCTGTATGCCAGATGGCCCCTGTCCTTGCCTACTTCTTCCTTCTGGGCTCCTCTTCCCGTAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCGGCCATCCAGTCCAGCGCACTGTATGAGGACCGCTACCTCCTGGGCACCTCTCTTGCCAGGCCCTGCATCGCCCGCAAACAAGTGGAAATCGCCCAGCGGGAGGGGGCCAAGTATGTGTCCCACGGCGCCATAGGAAAGGTGAGGCACCTGGGAAGGGCCGGGCAGAGGGAGATGGAGGCGGAGGGGTGTGGGAAGGAGATGAGCACCCCTCGAGCGGTTTCCTGGTGTGCCTCCGGGGCAGACTTGGTGCAAGGCAGCTACATGGCTTTGTTTAGACCCCAATGAGAGGGGTAACAGCTCGCCCCTGCGCTCTGTGCACTGTGGCACCTGAACGCCCATTCTGAGTCCTCACCTCCACCTTCTGCTGTGGGAGCGATGTCACCCCATTTGGCAGACTTGCTGCTGAGGCCTGGGGACATTGTCCAAGGTCGCATTGGCCAAGGTCACTGCGTGAGTCCCCCAGGGGACACGCAGGAAAGTGTTGAAAACCCTGAGTTGGCAGAGTAGGGTTCAAAGGCAGCTCTGCTGCTGGCTTGCCGTGTGTCCTCAGCCAGGGCCCTTCTCCCCTTCCTGAACCTCAGTTTCTTCATTTGCAAGATGGGGCTCATGCCATGTCTTAGTTTCCCAGGGCGAGGGTAACAAAATGTCTCAAACTGGTGGCTTAGAACACAGAACTGTTCTGCCTCATGGTTCTGGAGGCCTGAGGTCCATAGTGAGGGCATGGGCAGGGCCACGCAGCCTCTGAAGGTGCCAGGAAGCCTCCGGCTCAGGCCTCTCTCCAGCTTCCAGTGGCCTCTGGTGTCCCTTAGCGTGTGGCTGCGTCACTCCTGTCCTTCCGTCCTCCATCTTCCCAAGCTGTCTTCTTCCTGTATCTCTGCATTGTCTTCCCTCTGCTTGTCTGTTTACCTTCCCCTTGCTACAGGAACCCGTCTTGGATTAGGGCCCTTCAATGACCTCATCTTAACTTGGTTACTTTTTGTGTGTGTGTGTGGGGGAGAGGGACAAAGTCTCACTCTGACGCCCAGGCTGGAGTGCAGTGGCTCGATCTTGGCTCACTGCAACCTCTGCCTCCCAGATTGAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTACCCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGGCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCAGCCTTGGCCTCCCAAAGCACTGGGATTACAGGCGTGGGCCACCATGCCCAGCCTTAACTTGGTTATTTCTGTTAAGACCACATGAGGCCACATTCGGAGGGACTGGGGTTAGGACTTGAACCCATTATTTTGTGGAAACACAAATCAACCCATCCCGTACCCCTTCCCTCCGGGCCGTGTGTCCCAGTGCAGACTGCGGGGTCCCCGTGGGGTGCAAGACAGGAAGCCCCCTGCCTGCTGCTCTTCGGAAGGCAGTCCTTGAGAAACCAGATTCCTGACAATGTTGGCAACTGTCAGCCGATGTTTTTATAAAGACCCAAGTCATGAGCTCTCAGTCAGCGGACAGCATGCCAAGAGCCTGGTACAGGAATTGACTGTTTACCAACCCCACAGTCAGAAGGCTCGGAAACTCCCCAGTGACGGGGAGCTCACTACCTCGCCTGCCCGGGCTGGTCAGGGTGCTGATGGTGGGAAGTCCTGGCTCACTGTGGGAGGTCCTGGCTCACTGTGGTGCAGGGACACACACAGCTAAGATGATGATGGAGGAGACGCGGTTGATTTGAGGGTGGCCTGGGAGACAGCCACCCACCAGGATGGCACCTGTCATGTCTTTGAAAGTCCAAGTGTTCATTTCTTCACCGGAGCACTGGTTCAGCAAGCTTGCACTGGGTATCTGCTGGGAGTTGGGTGCTTGCTGGCATTGGCACAGTGCTAACTTCTTGGGCTCATTGCGTACCTTCAGAGAGCCCATTTCCTGGCAAGAGAAGAGAAAATGGATGTGTGATGAGGAATGGGAGTGGGGCCAGGGGTCTGTGCCAGGGAACTGCGGGAGCAGCAGGCAGGGGCTGAGGATGAGTCTAGAGGAGTGAATAATGGCATGGAAGAGTGTGAGAGGCAGAGGGAACAGCCTGTGGAAAGGCTTAGAGCCAAGAGGCCCTGAAGGACAGT
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Task1_train_13319
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With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Citrullinemia
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TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAGGAGCTGCCCTGGTGCTGGGGTCTTGGGGTTCAGAGGGGGAAGGATTAGACTGGCCTCCTTGGCTCTTGCCTGAGACGAGGGCAGAGTTTGAACCAAGGAAGCGTTTGTTTGGCCTCTTCGAGGGTCTCTGGCTCCTGAACAGATGGGTGTCCGCATGGCAGCATCTGGATGGGCAGACAGCAGCCCAGCCGTGCCTGGCTGGTGAGGCACAAGCCGTCTTTGTGTTGGGGAAACATGAAGCTGTGGGGGAAAATAGCTGGGCCATGCAACGTCGGACCATGCCTTACCATCTAAAATGAGGCTGTCTTTTAGTTGCTCCAGGAACGGGGCCGGCTGGGGGTCAGCAGGCAAATGTGGCCGCCCCCACCTCAGTGTCCTCATCCGTAAGATGGGACTAATAGAACCTGCCTCCTGGGGCTGCTCAAAGGATTCAGTGAGTTAATTATGCATGGAGCTCAGCTGGGAAGCCTGAGTGTGAACCGTTAGGATGAGCGAGTTTGCTGTGTGGCCCTGGGCAAGTGGCTGCACCTCTCTGAGCTTCACTTTCCTCACCCATAAAATATGGCTAAAAATCCCCCTGGCCCTGGGGGCCTCTCTGAGTGACAGCACATAGTAGGTGCTCACTAAAGGGGCTGCATGGAGGGTGAGTGAGGCCAGCCCAAGGCCTGTGCCGCACACACAGCTCCCAGCTCTGCAGAGAGGCTGAACCCTGGATTCTGTGCCACCTGACGAGAGTCTGGAAAATAGCATGTAATTCCCACCGCTGCCTGGCTGCGCCCATGCAGTTTTCACAGTAGGCAAAAGGTCCCTCTGTCATTTCCACAGCGCTTAAGTCTCCCTCTGGGCTGCCGAGCCCACGGGGAAGCAGGAGACGTGCGCGGCCATTTTCTCTCTGGGGACAGAGCTGGGCTGGCGGATGCCTGCGCTGACCCCGGCCTCCTCCTCCTCGGCATCAGTGTGGACGGTGGTCCCGGCTATGTCGGGGGTAACGTTCACAGCTCAGTGGGGTGTTGAGGTGTCTCCATTTGCCCACAGAGGATGCAGGCGAGGCAACCTGCCCGAGGGGGTGGCTGTGGTGCTGGGGACCTGGGCTTGGGTCCCGGGCCTGCCCTGGCTGTGTGTCCTTGGACTGGTTCCTTTCCCTTCCTGGGCCTCAGTTTCCCTCTCTGTGCAGAGAAGAGCTGAGGAGCAAAAGGCCCTCAGTGGTCACCTAGTTCCACCTCCTCCCTGACACCAGCCATTGAAGAGATGCGGAAACTGAGGCTCAGAGAGGTGACAGGGTTCCCAAATGTATGGGTATGGGGGAGTCCAAGCACCCTGGTGCCCCAGCCCTGAAGTGAGCTTGATTTGGGGCAGGGCAGGGTCAGCAATGTGGGGGCCTTGAGGAAGAGACTATAGTGCGAGCTCTGGGGCTGCAGGAGCAGGGCCTGGCCCCCCAGGTCTTGCCAGTGGCTGGGCCTCCAGCTCCAGGGGGTCAGATGTGTCCTGCACCCACCCACGTGACATGTGTGCCCTCTCCTATACTCTGCCATGTCCCCAGACGTGCACATCTCCCTCCTGCCACATGCCCACACATACACGACCTACACTGCATGACCTCACATGTGTACACGCTCTGCCCAGCTCTGTCTCCGCCACGGGCTGTCCTTGTCCTCACGTCCTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCTGATGGGGAGGAGGGCACAGGGTTCTGGGAGATTCCACAGGACAGGCACAGAATCTCCTCCGTGGCAGGGGTGCCCATCGGGTGGACAGCCTGCTGGGGAGGCTCCCTTCGCTGGGGCCAGCTCCAGGGGACACACTTTCTTCCCCGCCATTCATTCTTCCCGGAGAGGCTGTCCAGGTGCTGGGGCACGGGATAGAAAGTCCCTGCCACTCTTCAGCCACATCCCTGGCATCCCAGGTGTGGGCAGGCATGGCTCTGGCACCCCAGGTGCGGGCAGGGATGGCTCTGGCACCCCAGGTGCGGGTGGGGATGGCTCTGAAACGTGGTTGCTGGTGTCTGGGATGCTCAGAGCCCTCCGAGCCCCAGTCAGAGCCCCCAGCTATGCCTGGCTCCTCCCCAGGCCACCTGTGCCTGGTCCCCAGCATCTCTTGAGCCTTTCCTGGGGTGGGAATCACCAGGATCTCAGGGCCTCAACCGCCCTGGCCCGTGGCATGTCACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGG
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TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAGGAGCTGCCCTGGTGCTGGGGTCTTGGGGTTCAGAGGGGGAAGGATTAGACTGGCCTCCTTGGCTCTTGCCTGAGACGAGGGCAGAGTTTGAACCAAGGAAGCGTTTGTTTGGCCTCTTCGAGGGTCTCTGGCTCCTGAACAGATGGGTGTCCGCATGGCAGCATCTGGATGGGCAGACAGCAGCCCAGCCGTGCCTGGCTGGTGAGGCACAAGCCGTCTTTGTGTTGGGGAAACATGAAGCTGTGGGGGAAAATAGCTGGGCCATGCAACGTCGGACCATGCCTTACCATCTAAAATGAGGCTGTCTTTTAGTTGCTCCAGGAACGGGGCCGGCTGGGGGTCAGCAGGCAAATGTGGCCGCCCCCACCTCAGTGTCCTCATCCGTAAGATGGGACTAATAGAACCTGCCTCCTGGGGCTGCTCAAAGGATTCAGTGAGTTAATTATGCATGGAGCTCAGCTGGGAAGCCTGAGTGTGAACCGTTAGGATGAGCGAGTTTGCTGTGTGGCCCTGGGCAAGTGGCTGCACCTCTCTGAGCTTCACTTTCCTCACCCATAAAATATGGCTAAAAATCCCCCTGGCCCTGGGGGCCTCTCTGAGTGACAGCACATAGTAGGTGCTCACTAAAGGGGCTGCATGGAGGGTGAGTGAGGCCAGCCCAAGGCCTGTGCCGCACACACAGCTCCCAGCTCTGCAGAGAGGCTGAACCCTGGATTCTGTGCCACCTGACGAGAGTCTGGAAAATAGCATGTAATTCCCACCGCTGCCTGGCTGCGCCCATGCAGTTTTCACAGTAGGCAAAAGGTCCCTCTGTCATTTCCACAGCGCTTAAGTCTCCCTCTGGGCTGCCGAGCCCACGGGGAAGCAGGAGACGTGCGCGGCCATTTTCTCTCTGGGGACAGAGCTGGGCTGGCGGATGCCTGCGCTGACCCCGGCCTCCTCCTCCTCGGCATCAGTGTGGACGGTGGTCCCGGCTATGTCGGGGGTAACGTTCACAGCTCAGTGGGGTGTTGAGGTGTCTCCATTTGCCCACAGAGGATGCAGGCGAGGCAACCTGCCCGAGGGGGTGGCTGTGGTGCTGGGGACCTGGGCTTGGGTCCCGGGCCTGCCCTGGCTGTGTGTCCTTGGACTGGTTCCTTTCCCTTCCTGGGCCTCAGTTTCCCTCTCTGTGCAGAGAAGAGCTGAGGAGCAAAAGGCCCTCAGTGGTCACCTAGTTCCACCTCCTCCCTGACACCAGCCATTGAAGAGATGCGGAAACTGAGGCTCAGAGAGGTGACAGGGTTCCCAAATGTATGGGTATGGGGGAGTCCAAGCACCCTGGTGCCCCAGCCCTGAAGTGAGCTTGATTTGGGGCAGGGCAGGGTCAGCAATGTGGGGGCCTTGAGGAAGAGACTATAGTGCGAGCTCTGGGGCTGCAGGAGCAGGGCCTGGCCCCCCAGGTCTTGCCAGTGGCTGGGCCTCCAGCTCCAGGGGGTCAGATGTGTCCTGCACCCACCCACGTGACATGTGTGCCCTCTCCTATACTCTGCCATGTCCCCAGACGTGCACATCTCCCTCCTGCCACATGCCCACACATACACGACCTACACTGCATGACCTCACATGTGTACACGCTCTGCCCAGCTCTGTCTCCGCCACGGGCTGTCCTTGTCCTCACGTCCTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACAATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCTGATGGGGAGGAGGGCACAGGGTTCTGGGAGATTCCACAGGACAGGCACAGAATCTCCTCCGTGGCAGGGGTGCCCATCGGGTGGACAGCCTGCTGGGGAGGCTCCCTTCGCTGGGGCCAGCTCCAGGGGACACACTTTCTTCCCCGCCATTCATTCTTCCCGGAGAGGCTGTCCAGGTGCTGGGGCACGGGATAGAAAGTCCCTGCCACTCTTCAGCCACATCCCTGGCATCCCAGGTGTGGGCAGGCATGGCTCTGGCACCCCAGGTGCGGGCAGGGATGGCTCTGGCACCCCAGGTGCGGGTGGGGATGGCTCTGAAACGTGGTTGCTGGTGTCTGGGATGCTCAGAGCCCTCCGAGCCCCAGTCAGAGCCCCCAGCTATGCCTGGCTCCTCCCCAGGCCACCTGTGCCTGGTCCCCAGCATCTCTTGAGCCTTTCCTGGGGTGGGAATCACCAGGATCTCAGGGCCTCAACCGCCCTGGCCCGTGGCATGTCACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGG
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Task1_train_13320
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Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Citrullinemia type I
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TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAGGAGCTGCCCTGGTGCTGGGGTCTTGGGGTTCAGAGGGGGAAGGATTAGACTGGCCTCCTTGGCTCTTGCCTGAGACGAGGGCAGAGTTTGAACCAAGGAAGCGTTTGTTTGGCCTCTTCGAGGGTCTCTGGCTCCTGAACAGATGGGTGTCCGCATGGCAGCATCTGGATGGGCAGACAGCAGCCCAGCCGTGCCTGGCTGGTGAGGCACAAGCCGTCTTTGTGTTGGGGAAACATGAAGCTGTGGGGGAAAATAGCTGGGCCATGCAACGTCGGACCATGCCTTACCATCTAAAATGAGGCTGTCTTTTAGTTGCTCCAGGAACGGGGCCGGCTGGGGGTCAGCAGGCAAATGTGGCCGCCCCCACCTCAGTGTCCTCATCCGTAAGATGGGACTAATAGAACCTGCCTCCTGGGGCTGCTCAAAGGATTCAGTGAGTTAATTATGCATGGAGCTCAGCTGGGAAGCCTGAGTGTGAACCGTTAGGATGAGCGAGTTTGCTGTGTGGCCCTGGGCAAGTGGCTGCACCTCTCTGAGCTTCACTTTCCTCACCCATAAAATATGGCTAAAAATCCCCCTGGCCCTGGGGGCCTCTCTGAGTGACAGCACATAGTAGGTGCTCACTAAAGGGGCTGCATGGAGGGTGAGTGAGGCCAGCCCAAGGCCTGTGCCGCACACACAGCTCCCAGCTCTGCAGAGAGGCTGAACCCTGGATTCTGTGCCACCTGACGAGAGTCTGGAAAATAGCATGTAATTCCCACCGCTGCCTGGCTGCGCCCATGCAGTTTTCACAGTAGGCAAAAGGTCCCTCTGTCATTTCCACAGCGCTTAAGTCTCCCTCTGGGCTGCCGAGCCCACGGGGAAGCAGGAGACGTGCGCGGCCATTTTCTCTCTGGGGACAGAGCTGGGCTGGCGGATGCCTGCGCTGACCCCGGCCTCCTCCTCCTCGGCATCAGTGTGGACGGTGGTCCCGGCTATGTCGGGGGTAACGTTCACAGCTCAGTGGGGTGTTGAGGTGTCTCCATTTGCCCACAGAGGATGCAGGCGAGGCAACCTGCCCGAGGGGGTGGCTGTGGTGCTGGGGACCTGGGCTTGGGTCCCGGGCCTGCCCTGGCTGTGTGTCCTTGGACTGGTTCCTTTCCCTTCCTGGGCCTCAGTTTCCCTCTCTGTGCAGAGAAGAGCTGAGGAGCAAAAGGCCCTCAGTGGTCACCTAGTTCCACCTCCTCCCTGACACCAGCCATTGAAGAGATGCGGAAACTGAGGCTCAGAGAGGTGACAGGGTTCCCAAATGTATGGGTATGGGGGAGTCCAAGCACCCTGGTGCCCCAGCCCTGAAGTGAGCTTGATTTGGGGCAGGGCAGGGTCAGCAATGTGGGGGCCTTGAGGAAGAGACTATAGTGCGAGCTCTGGGGCTGCAGGAGCAGGGCCTGGCCCCCCAGGTCTTGCCAGTGGCTGGGCCTCCAGCTCCAGGGGGTCAGATGTGTCCTGCACCCACCCACGTGACATGTGTGCCCTCTCCTATACTCTGCCATGTCCCCAGACGTGCACATCTCCCTCCTGCCACATGCCCACACATACACGACCTACACTGCATGACCTCACATGTGTACACGCTCTGCCCAGCTCTGTCTCCGCCACGGGCTGTCCTTGTCCTCACGTCCTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACGATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCTGATGGGGAGGAGGGCACAGGGTTCTGGGAGATTCCACAGGACAGGCACAGAATCTCCTCCGTGGCAGGGGTGCCCATCGGGTGGACAGCCTGCTGGGGAGGCTCCCTTCGCTGGGGCCAGCTCCAGGGGACACACTTTCTTCCCCGCCATTCATTCTTCCCGGAGAGGCTGTCCAGGTGCTGGGGCACGGGATAGAAAGTCCCTGCCACTCTTCAGCCACATCCCTGGCATCCCAGGTGTGGGCAGGCATGGCTCTGGCACCCCAGGTGCGGGCAGGGATGGCTCTGGCACCCCAGGTGCGGGTGGGGATGGCTCTGAAACGTGGTTGCTGGTGTCTGGGATGCTCAGAGCCCTCCGAGCCCCAGTCAGAGCCCCCAGCTATGCCTGGCTCCTCCCCAGGCCACCTGTGCCTGGTCCCCAGCATCTCTTGAGCCTTTCCTGGGGTGGGAATCACCAGGATCTCAGGGCCTCAACCGCCCTGGCCCGTGGCATGTCACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGG
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TCCCATGCCCTGCTGCCAGCCCCACCCCTGCCCACCCAGAGAGCTGCACCGAAGCTGGGGTGGCCCTTGCGGGGCTCCTCTCTCCCCCTAGTTTTGGAAGAGGGGCCTGGAAATATGATTCTGAGACTCTAGCCGGGGAGCGAGAGTTTTGTAAATGGCACCATCTGTATGGGTGCCCCAGGGCAGATGGGAGACCCCAGGCCCCCCAGTCCCAGTGGGACCGTGTTTACATGCATGTTTACACACGTGTGCACAAATATCAGCATGCGGACACTCGTGTGTGAGACACTACATCCTCCTTCTCCCCGGAAAGCTGCCAGGAGCTGCCCTGGTGCTGGGGTCTTGGGGTTCAGAGGGGGAAGGATTAGACTGGCCTCCTTGGCTCTTGCCTGAGACGAGGGCAGAGTTTGAACCAAGGAAGCGTTTGTTTGGCCTCTTCGAGGGTCTCTGGCTCCTGAACAGATGGGTGTCCGCATGGCAGCATCTGGATGGGCAGACAGCAGCCCAGCCGTGCCTGGCTGGTGAGGCACAAGCCGTCTTTGTGTTGGGGAAACATGAAGCTGTGGGGGAAAATAGCTGGGCCATGCAACGTCGGACCATGCCTTACCATCTAAAATGAGGCTGTCTTTTAGTTGCTCCAGGAACGGGGCCGGCTGGGGGTCAGCAGGCAAATGTGGCCGCCCCCACCTCAGTGTCCTCATCCGTAAGATGGGACTAATAGAACCTGCCTCCTGGGGCTGCTCAAAGGATTCAGTGAGTTAATTATGCATGGAGCTCAGCTGGGAAGCCTGAGTGTGAACCGTTAGGATGAGCGAGTTTGCTGTGTGGCCCTGGGCAAGTGGCTGCACCTCTCTGAGCTTCACTTTCCTCACCCATAAAATATGGCTAAAAATCCCCCTGGCCCTGGGGGCCTCTCTGAGTGACAGCACATAGTAGGTGCTCACTAAAGGGGCTGCATGGAGGGTGAGTGAGGCCAGCCCAAGGCCTGTGCCGCACACACAGCTCCCAGCTCTGCAGAGAGGCTGAACCCTGGATTCTGTGCCACCTGACGAGAGTCTGGAAAATAGCATGTAATTCCCACCGCTGCCTGGCTGCGCCCATGCAGTTTTCACAGTAGGCAAAAGGTCCCTCTGTCATTTCCACAGCGCTTAAGTCTCCCTCTGGGCTGCCGAGCCCACGGGGAAGCAGGAGACGTGCGCGGCCATTTTCTCTCTGGGGACAGAGCTGGGCTGGCGGATGCCTGCGCTGACCCCGGCCTCCTCCTCCTCGGCATCAGTGTGGACGGTGGTCCCGGCTATGTCGGGGGTAACGTTCACAGCTCAGTGGGGTGTTGAGGTGTCTCCATTTGCCCACAGAGGATGCAGGCGAGGCAACCTGCCCGAGGGGGTGGCTGTGGTGCTGGGGACCTGGGCTTGGGTCCCGGGCCTGCCCTGGCTGTGTGTCCTTGGACTGGTTCCTTTCCCTTCCTGGGCCTCAGTTTCCCTCTCTGTGCAGAGAAGAGCTGAGGAGCAAAAGGCCCTCAGTGGTCACCTAGTTCCACCTCCTCCCTGACACCAGCCATTGAAGAGATGCGGAAACTGAGGCTCAGAGAGGTGACAGGGTTCCCAAATGTATGGGTATGGGGGAGTCCAAGCACCCTGGTGCCCCAGCCCTGAAGTGAGCTTGATTTGGGGCAGGGCAGGGTCAGCAATGTGGGGGCCTTGAGGAAGAGACTATAGTGCGAGCTCTGGGGCTGCAGGAGCAGGGCCTGGCCCCCCAGGTCTTGCCAGTGGCTGGGCCTCCAGCTCCAGGGGGTCAGATGTGTCCTGCACCCACCCACGTGACATGTGTGCCCTCTCCTATACTCTGCCATGTCCCCAGACGTGCACATCTCCCTCCTGCCACATGCCCACACATACACGACCTACACTGCATGACCTCACATGTGTACACGCTCTGCCCAGCTCTGTCTCCGCCACGGGCTGTCCTTGTCCTCACGTCCTCCCCCAGACTCCAGAACCCCCATCCTGTGGCTCCTGACAGCCCTCTGTTCTGCATTGCAGGGGAACAATCAGGTCCGGTTTGAGCTCAGCTGCTACTCACTGGCCCCCCAGATAAAGGTAGGATGTGGCTCCTCCCCTTAGCAGGGAGCACTAGCATCTGCAGCACCTGATGGGGAGGAGGGCACAGGGTTCTGGGAGATTCCACAGGACAGGCACAGAATCTCCTCCGTGGCAGGGGTGCCCATCGGGTGGACAGCCTGCTGGGGAGGCTCCCTTCGCTGGGGCCAGCTCCAGGGGACACACTTTCTTCCCCGCCATTCATTCTTCCCGGAGAGGCTGTCCAGGTGCTGGGGCACGGGATAGAAAGTCCCTGCCACTCTTCAGCCACATCCCTGGCATCCCAGGTGTGGGCAGGCATGGCTCTGGCACCCCAGGTGCGGGCAGGGATGGCTCTGGCACCCCAGGTGCGGGTGGGGATGGCTCTGAAACGTGGTTGCTGGTGTCTGGGATGCTCAGAGCCCTCCGAGCCCCAGTCAGAGCCCCCAGCTATGCCTGGCTCCTCCCCAGGCCACCTGTGCCTGGTCCCCAGCATCTCTTGAGCCTTTCCTGGGGTGGGAATCACCAGGATCTCAGGGCCTCAACCGCCCTGGCCCGTGGCATGTCACCCAGGCAGGAGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGG
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Task1_train_13321
|
A sequence alteration has been identified in ASS1 (argininosuccinate synthase 1) on Chromosome 9. Is it disease-inducing or harmless?
|
Pathogenic; Citrullinemia type I
|
AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGGCTGAGTCGGGGGCTCTTTTTACCAGCTCAGGCCGAGGGGCTCAAGGGGAATGAGCTTGGTCCCTCAGCCAGGCTCAGAGTCTTCCCCCACTTCTTTCCCTTCCACACCCAGAGAAGTGGGTGGGGGGCAGCCTATGCCTCTCTGGGCCCCCGACCACACGTGGGGCCAGGCCAGCAGCGGCAGCTCTGTGGACTCTCCCTGGGTCACGGCAGTGGCCCTGTGGCTGAAGGTGCTGGCAAGGACCATGAACCCCGTCTAGTTCAAACTCTCAGGTCTCATCTGGGGAGACTGAGGCCCAGGGAACAGGGACCCCCTTCTCACCCCAACACACCACCATTCTGCCATGGAGTGCAGGCTCCGTCCAGCCAGCCCCGGTGAGGGAGTCTGTGTCCTTCCCCTCCTTCATGGGGCTCCCTCTCACCCTCACAACAGCATCCTCTCTGGGGACATGCTGGAGACCCCCATGGGCCCCTCCCAGGAGAGGCCAGCTCTGCAGCTTACAGGCCAGGGGAAGCCCACAGCTCGGCCCTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACGCAAAGGTATGGCCGAGTCTCCCCACCACCCCCAACCTTTCCCTATAGCCCCCTTCCCGGGCACGTCCCTGCTGGGGGCTGTCTGAGCCAGTGGCCTAGGCCGGGACTGACCCCATGTGATGGGGGATTGAACTTCCACCCCAGCTGCCTACACACGTGGCCTCTGTCCCCTGGGCTGACCCCACAGAGGTGTGGTCATCTGCCAGCCCGTTGCCAGGGCGGAGCCGCTCTGAGGCCATTTCCCAGTCCCCCGAGCCAGAGGACACAGGGCTCACTCTCTCTCCTGCTCCCTGGGAGGCGGAGACCAGAGCCCTGCTTGCCACCTCCGCAGTGTGTGTGTCTTGGTGTGTGTCACTTGGGGGGATGGCTGGGGGATGTGATGGCCGGCCGGGGGGATGTGATCGGGAGCTGTTCTCCCAATTCCCTGGATACTAATTGCCCCTAGCGCTTTCCCCGGGAACAGGTAGGCGCTCCAAGGGACAGTCGCAGACAAAGCCTTTTATGGCACCAGCCCTTTTTGAAGTACAAGTTGCAATAAAACATATTAGAAGTTTTGCATCAAGATCCTTAGCCGCTCCCCAGGGCACCTTTCTTTTTAGCGACTCGATGGCAGCCCTTGACAAACAGCCTCAATCAATCAGGCCGGGGAAAAGCAACTCAGCGCACACACCAGAAAATTGCTCAGGTTTTTAAATAGCAGTCGCCAAGGCTGGCTGTGAGCTCTCGCTGCAGCCAAGGTGCCGCGTGGTAGGGGAGGCGGCAGGGACGCAGCCCTGCCCCCGCCGCCAGCAACCCATTAAGACCTGGAGTGCTGGGAGGGAAGACCTTCTCCACCATCTGTTGTTTTATTATTAAGAGGGGAGTTTACAAGAGCAAGCCCATATGTTGCCAAACAAATTGTCAAATAGCAGAGCTATTAAGGGAGCCGGGTTGGTGAGGTTTCTCCCCTGGTCTCCTTGATGATATAGAATATGAAGCGTGTTTCATCTTTAAGAATAATGAATTGGAGCCCCCACCCAGCTCTACCCTCACGCCTCGAGTCCTGGATAGAGAGGGGCAGGGCCGACCCATACGTTGCCCTTTCTTTCCGTTAAGTCCCCAGACAAAAGCAGCTTCTGGTTTTTCTAGCATAGATGAGTCTCAGGAGCACACTGCTGTCCTTCCTTCTCAGGTTTTGAGGAGAAGGTGCTGAGCTCAGCTTCCATCCCAAATAACCTTTTGAGCCGGAAAAGTTTGCCAGGGAAAGATGAGCATGGCCCCCTCGGCCACCTACCCTCTCCTGGAGATGGGTTTCATCAGAAATGACTGTGGGGAATCTGAGCACGTTCTAGAAGGAGGCAGAGGCAGTGTTTCTGCACCCAGGAAATGTCAGAATGACTGAGCAGTGATGAGGCCTCCTCCAAAATTCTGAGCCAGGCAGGATCTGAGATGGATGACACAAAAATCAATGGGGCTTTCAAAAATCTCTGCTTTCAAGACGCTTCGGTAGCCAAGGCAAAAAGGCGCCAGAGGACTCATAAAAAACATGCATTTGCTTCGCTGGCCATCCTCTCCCAACCCATCGTCCAACGGAAAAACACTCAGAACCACCCCATCCTTGTCACTGTCACCATAATTTAAAAAAAAATTTTTTTTAGAGACAGTGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCACAATCCTAGCTCATTGCAGCCTCAACCTCCTGGGCTCATCTGACCCTCCTACCTCAGCCTCCTGAGTAGCTGGAACTACAAACGTGCCCTAGTACATCTGGCTAATTTTTGTTTTTCATATATTTATTTATTTATTTTTTTACAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAACTCAAGTAATCCACCCTCCTTGGCCTCCCCAAAGTATTGGGATTGCAGGTGTGAGCCACCACACCCAGCTTTGGCTAATTTTTAAATTTTTTTTTGTAGAGACAGGGTCTTGCTATACTGCCCAGCCTGGCTATAATTATTATTTTTAAAGCCAGACT
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AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGGCTGAGTCGGGGGCTCTTTTTACCAGCTCAGGCCGAGGGGCTCAAGGGGAATGAGCTTGGTCCCTCAGCCAGGCTCAGAGTCTTCCCCCACTTCTTTCCCTTCCACACCCAGAGAAGTGGGTGGGGGGCAGCCTATGCCTCTCTGGGCCCCCGACCACACGTGGGGCCAGGCCAGCAGCGGCAGCTCTGTGGACTCTCCCTGGGTCACGGCAGTGGCCCTGTGGCTGAAGGTGCTGGCAAGGACCATGAACCCCGTCTAGTTCAAACTCTCAGGTCTCATCTGGGGAGACTGAGGCCCAGGGAACAGGGACCCCCTTCTCACCCCAACACACCACCATTCTGCCATGGAGTGCAGGCTCCGTCCAGCCAGCCCCGGTGAGGGAGTCTGTGTCCTTCCCCTCCTTCATGGGGCTCCCTCTCACCCTCACAACAGCATCCTCTCTGGGGACATGCTGGAGACCCCCATGGGCCCCTCCCAGGAGAGGCCAGCTCTGCAGCTTACAGGCCAGGGGAAGCCCACAGCTCGGCCCTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCTGCAATGACCTGATGGAGTACGCAAAGGTATGGCCGAGTCTCCCCACCACCCCCAACCTTTCCCTATAGCCCCCTTCCCGGGCACGTCCCTGCTGGGGGCTGTCTGAGCCAGTGGCCTAGGCCGGGACTGACCCCATGTGATGGGGGATTGAACTTCCACCCCAGCTGCCTACACACGTGGCCTCTGTCCCCTGGGCTGACCCCACAGAGGTGTGGTCATCTGCCAGCCCGTTGCCAGGGCGGAGCCGCTCTGAGGCCATTTCCCAGTCCCCCGAGCCAGAGGACACAGGGCTCACTCTCTCTCCTGCTCCCTGGGAGGCGGAGACCAGAGCCCTGCTTGCCACCTCCGCAGTGTGTGTGTCTTGGTGTGTGTCACTTGGGGGGATGGCTGGGGGATGTGATGGCCGGCCGGGGGGATGTGATCGGGAGCTGTTCTCCCAATTCCCTGGATACTAATTGCCCCTAGCGCTTTCCCCGGGAACAGGTAGGCGCTCCAAGGGACAGTCGCAGACAAAGCCTTTTATGGCACCAGCCCTTTTTGAAGTACAAGTTGCAATAAAACATATTAGAAGTTTTGCATCAAGATCCTTAGCCGCTCCCCAGGGCACCTTTCTTTTTAGCGACTCGATGGCAGCCCTTGACAAACAGCCTCAATCAATCAGGCCGGGGAAAAGCAACTCAGCGCACACACCAGAAAATTGCTCAGGTTTTTAAATAGCAGTCGCCAAGGCTGGCTGTGAGCTCTCGCTGCAGCCAAGGTGCCGCGTGGTAGGGGAGGCGGCAGGGACGCAGCCCTGCCCCCGCCGCCAGCAACCCATTAAGACCTGGAGTGCTGGGAGGGAAGACCTTCTCCACCATCTGTTGTTTTATTATTAAGAGGGGAGTTTACAAGAGCAAGCCCATATGTTGCCAAACAAATTGTCAAATAGCAGAGCTATTAAGGGAGCCGGGTTGGTGAGGTTTCTCCCCTGGTCTCCTTGATGATATAGAATATGAAGCGTGTTTCATCTTTAAGAATAATGAATTGGAGCCCCCACCCAGCTCTACCCTCACGCCTCGAGTCCTGGATAGAGAGGGGCAGGGCCGACCCATACGTTGCCCTTTCTTTCCGTTAAGTCCCCAGACAAAAGCAGCTTCTGGTTTTTCTAGCATAGATGAGTCTCAGGAGCACACTGCTGTCCTTCCTTCTCAGGTTTTGAGGAGAAGGTGCTGAGCTCAGCTTCCATCCCAAATAACCTTTTGAGCCGGAAAAGTTTGCCAGGGAAAGATGAGCATGGCCCCCTCGGCCACCTACCCTCTCCTGGAGATGGGTTTCATCAGAAATGACTGTGGGGAATCTGAGCACGTTCTAGAAGGAGGCAGAGGCAGTGTTTCTGCACCCAGGAAATGTCAGAATGACTGAGCAGTGATGAGGCCTCCTCCAAAATTCTGAGCCAGGCAGGATCTGAGATGGATGACACAAAAATCAATGGGGCTTTCAAAAATCTCTGCTTTCAAGACGCTTCGGTAGCCAAGGCAAAAAGGCGCCAGAGGACTCATAAAAAACATGCATTTGCTTCGCTGGCCATCCTCTCCCAACCCATCGTCCAACGGAAAAACACTCAGAACCACCCCATCCTTGTCACTGTCACCATAATTTAAAAAAAAATTTTTTTTAGAGACAGTGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCACAATCCTAGCTCATTGCAGCCTCAACCTCCTGGGCTCATCTGACCCTCCTACCTCAGCCTCCTGAGTAGCTGGAACTACAAACGTGCCCTAGTACATCTGGCTAATTTTTGTTTTTCATATATTTATTTATTTATTTTTTTACAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAACTCAAGTAATCCACCCTCCTTGGCCTCCCCAAAGTATTGGGATTGCAGGTGTGAGCCACCACACCCAGCTTTGGCTAATTTTTAAATTTTTTTTTGTAGAGACAGGGTCTTGCTATACTGCCCAGCCTGGCTATAATTATTATTTTTAAAGCCAGACT
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Task1_train_13322
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Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Citrullinemia
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AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGGCTGAGTCGGGGGCTCTTTTTACCAGCTCAGGCCGAGGGGCTCAAGGGGAATGAGCTTGGTCCCTCAGCCAGGCTCAGAGTCTTCCCCCACTTCTTTCCCTTCCACACCCAGAGAAGTGGGTGGGGGGCAGCCTATGCCTCTCTGGGCCCCCGACCACACGTGGGGCCAGGCCAGCAGCGGCAGCTCTGTGGACTCTCCCTGGGTCACGGCAGTGGCCCTGTGGCTGAAGGTGCTGGCAAGGACCATGAACCCCGTCTAGTTCAAACTCTCAGGTCTCATCTGGGGAGACTGAGGCCCAGGGAACAGGGACCCCCTTCTCACCCCAACACACCACCATTCTGCCATGGAGTGCAGGCTCCGTCCAGCCAGCCCCGGTGAGGGAGTCTGTGTCCTTCCCCTCCTTCATGGGGCTCCCTCTCACCCTCACAACAGCATCCTCTCTGGGGACATGCTGGAGACCCCCATGGGCCCCTCCCAGGAGAGGCCAGCTCTGCAGCTTACAGGCCAGGGGAAGCCCACAGCTCGGCCCTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACGCAAAGGTATGGCCGAGTCTCCCCACCACCCCCAACCTTTCCCTATAGCCCCCTTCCCGGGCACGTCCCTGCTGGGGGCTGTCTGAGCCAGTGGCCTAGGCCGGGACTGACCCCATGTGATGGGGGATTGAACTTCCACCCCAGCTGCCTACACACGTGGCCTCTGTCCCCTGGGCTGACCCCACAGAGGTGTGGTCATCTGCCAGCCCGTTGCCAGGGCGGAGCCGCTCTGAGGCCATTTCCCAGTCCCCCGAGCCAGAGGACACAGGGCTCACTCTCTCTCCTGCTCCCTGGGAGGCGGAGACCAGAGCCCTGCTTGCCACCTCCGCAGTGTGTGTGTCTTGGTGTGTGTCACTTGGGGGGATGGCTGGGGGATGTGATGGCCGGCCGGGGGGATGTGATCGGGAGCTGTTCTCCCAATTCCCTGGATACTAATTGCCCCTAGCGCTTTCCCCGGGAACAGGTAGGCGCTCCAAGGGACAGTCGCAGACAAAGCCTTTTATGGCACCAGCCCTTTTTGAAGTACAAGTTGCAATAAAACATATTAGAAGTTTTGCATCAAGATCCTTAGCCGCTCCCCAGGGCACCTTTCTTTTTAGCGACTCGATGGCAGCCCTTGACAAACAGCCTCAATCAATCAGGCCGGGGAAAAGCAACTCAGCGCACACACCAGAAAATTGCTCAGGTTTTTAAATAGCAGTCGCCAAGGCTGGCTGTGAGCTCTCGCTGCAGCCAAGGTGCCGCGTGGTAGGGGAGGCGGCAGGGACGCAGCCCTGCCCCCGCCGCCAGCAACCCATTAAGACCTGGAGTGCTGGGAGGGAAGACCTTCTCCACCATCTGTTGTTTTATTATTAAGAGGGGAGTTTACAAGAGCAAGCCCATATGTTGCCAAACAAATTGTCAAATAGCAGAGCTATTAAGGGAGCCGGGTTGGTGAGGTTTCTCCCCTGGTCTCCTTGATGATATAGAATATGAAGCGTGTTTCATCTTTAAGAATAATGAATTGGAGCCCCCACCCAGCTCTACCCTCACGCCTCGAGTCCTGGATAGAGAGGGGCAGGGCCGACCCATACGTTGCCCTTTCTTTCCGTTAAGTCCCCAGACAAAAGCAGCTTCTGGTTTTTCTAGCATAGATGAGTCTCAGGAGCACACTGCTGTCCTTCCTTCTCAGGTTTTGAGGAGAAGGTGCTGAGCTCAGCTTCCATCCCAAATAACCTTTTGAGCCGGAAAAGTTTGCCAGGGAAAGATGAGCATGGCCCCCTCGGCCACCTACCCTCTCCTGGAGATGGGTTTCATCAGAAATGACTGTGGGGAATCTGAGCACGTTCTAGAAGGAGGCAGAGGCAGTGTTTCTGCACCCAGGAAATGTCAGAATGACTGAGCAGTGATGAGGCCTCCTCCAAAATTCTGAGCCAGGCAGGATCTGAGATGGATGACACAAAAATCAATGGGGCTTTCAAAAATCTCTGCTTTCAAGACGCTTCGGTAGCCAAGGCAAAAAGGCGCCAGAGGACTCATAAAAAACATGCATTTGCTTCGCTGGCCATCCTCTCCCAACCCATCGTCCAACGGAAAAACACTCAGAACCACCCCATCCTTGTCACTGTCACCATAATTTAAAAAAAAATTTTTTTTAGAGACAGTGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCACAATCCTAGCTCATTGCAGCCTCAACCTCCTGGGCTCATCTGACCCTCCTACCTCAGCCTCCTGAGTAGCTGGAACTACAAACGTGCCCTAGTACATCTGGCTAATTTTTGTTTTTCATATATTTATTTATTTATTTTTTTACAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAACTCAAGTAATCCACCCTCCTTGGCCTCCCCAAAGTATTGGGATTGCAGGTGTGAGCCACCACACCCAGCTTTGGCTAATTTTTAAATTTTTTTTTGTAGAGACAGGGTCTTGCTATACTGCCCAGCCTGGCTATAATTATTATTTTTAAAGCCAGACT
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AGGGCACCTGTGGGTATTGCCCAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGGCTGAGTCGGGGGCTCTTTTTACCAGCTCAGGCCGAGGGGCTCAAGGGGAATGAGCTTGGTCCCTCAGCCAGGCTCAGAGTCTTCCCCCACTTCTTTCCCTTCCACACCCAGAGAAGTGGGTGGGGGGCAGCCTATGCCTCTCTGGGCCCCCGACCACACGTGGGGCCAGGCCAGCAGCGGCAGCTCTGTGGACTCTCCCTGGGTCACGGCAGTGGCCCTGTGGCTGAAGGTGCTGGCAAGGACCATGAACCCCGTCTAGTTCAAACTCTCAGGTCTCATCTGGGGAGACTGAGGCCCAGGGAACAGGGACCCCCTTCTCACCCCAACACACCACCATTCTGCCATGGAGTGCAGGCTCCGTCCAGCCAGCCCCGGTGAGGGAGTCTGTGTCCTTCCCCTCCTTCATGGGGCTCCCTCTCACCCTCACAACAGCATCCTCTCTGGGGACATGCTGGAGACCCCCATGGGCCCCTCCCAGGAGAGGCCAGCTCTGCAGCTTACAGGCCAGGGGAAGCCCACAGCTCGGCCCTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCTGCAATGACCTGATGGAGTACGCAAAGGTATGGCCGAGTCTCCCCACCACCCCCAACCTTTCCCTATAGCCCCCTTCCCGGGCACGTCCCTGCTGGGGGCTGTCTGAGCCAGTGGCCTAGGCCGGGACTGACCCCATGTGATGGGGGATTGAACTTCCACCCCAGCTGCCTACACACGTGGCCTCTGTCCCCTGGGCTGACCCCACAGAGGTGTGGTCATCTGCCAGCCCGTTGCCAGGGCGGAGCCGCTCTGAGGCCATTTCCCAGTCCCCCGAGCCAGAGGACACAGGGCTCACTCTCTCTCCTGCTCCCTGGGAGGCGGAGACCAGAGCCCTGCTTGCCACCTCCGCAGTGTGTGTGTCTTGGTGTGTGTCACTTGGGGGGATGGCTGGGGGATGTGATGGCCGGCCGGGGGGATGTGATCGGGAGCTGTTCTCCCAATTCCCTGGATACTAATTGCCCCTAGCGCTTTCCCCGGGAACAGGTAGGCGCTCCAAGGGACAGTCGCAGACAAAGCCTTTTATGGCACCAGCCCTTTTTGAAGTACAAGTTGCAATAAAACATATTAGAAGTTTTGCATCAAGATCCTTAGCCGCTCCCCAGGGCACCTTTCTTTTTAGCGACTCGATGGCAGCCCTTGACAAACAGCCTCAATCAATCAGGCCGGGGAAAAGCAACTCAGCGCACACACCAGAAAATTGCTCAGGTTTTTAAATAGCAGTCGCCAAGGCTGGCTGTGAGCTCTCGCTGCAGCCAAGGTGCCGCGTGGTAGGGGAGGCGGCAGGGACGCAGCCCTGCCCCCGCCGCCAGCAACCCATTAAGACCTGGAGTGCTGGGAGGGAAGACCTTCTCCACCATCTGTTGTTTTATTATTAAGAGGGGAGTTTACAAGAGCAAGCCCATATGTTGCCAAACAAATTGTCAAATAGCAGAGCTATTAAGGGAGCCGGGTTGGTGAGGTTTCTCCCCTGGTCTCCTTGATGATATAGAATATGAAGCGTGTTTCATCTTTAAGAATAATGAATTGGAGCCCCCACCCAGCTCTACCCTCACGCCTCGAGTCCTGGATAGAGAGGGGCAGGGCCGACCCATACGTTGCCCTTTCTTTCCGTTAAGTCCCCAGACAAAAGCAGCTTCTGGTTTTTCTAGCATAGATGAGTCTCAGGAGCACACTGCTGTCCTTCCTTCTCAGGTTTTGAGGAGAAGGTGCTGAGCTCAGCTTCCATCCCAAATAACCTTTTGAGCCGGAAAAGTTTGCCAGGGAAAGATGAGCATGGCCCCCTCGGCCACCTACCCTCTCCTGGAGATGGGTTTCATCAGAAATGACTGTGGGGAATCTGAGCACGTTCTAGAAGGAGGCAGAGGCAGTGTTTCTGCACCCAGGAAATGTCAGAATGACTGAGCAGTGATGAGGCCTCCTCCAAAATTCTGAGCCAGGCAGGATCTGAGATGGATGACACAAAAATCAATGGGGCTTTCAAAAATCTCTGCTTTCAAGACGCTTCGGTAGCCAAGGCAAAAAGGCGCCAGAGGACTCATAAAAAACATGCATTTGCTTCGCTGGCCATCCTCTCCCAACCCATCGTCCAACGGAAAAACACTCAGAACCACCCCATCCTTGTCACTGTCACCATAATTTAAAAAAAAATTTTTTTTAGAGACAGTGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCACAATCCTAGCTCATTGCAGCCTCAACCTCCTGGGCTCATCTGACCCTCCTACCTCAGCCTCCTGAGTAGCTGGAACTACAAACGTGCCCTAGTACATCTGGCTAATTTTTGTTTTTCATATATTTATTTATTTATTTTTTTACAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAACTCAAGTAATCCACCCTCCTTGGCCTCCCCAAAGTATTGGGATTGCAGGTGTGAGCCACCACACCCAGCTTTGGCTAATTTTTAAATTTTTTTTTGTAGAGACAGGGTCTTGCTATACTGCCCAGCCTGGCTATAATTATTATTTTTAAAGCCAGACT
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Task1_train_13323
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With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Citrullinemia
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CAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGGCTGAGTCGGGGGCTCTTTTTACCAGCTCAGGCCGAGGGGCTCAAGGGGAATGAGCTTGGTCCCTCAGCCAGGCTCAGAGTCTTCCCCCACTTCTTTCCCTTCCACACCCAGAGAAGTGGGTGGGGGGCAGCCTATGCCTCTCTGGGCCCCCGACCACACGTGGGGCCAGGCCAGCAGCGGCAGCTCTGTGGACTCTCCCTGGGTCACGGCAGTGGCCCTGTGGCTGAAGGTGCTGGCAAGGACCATGAACCCCGTCTAGTTCAAACTCTCAGGTCTCATCTGGGGAGACTGAGGCCCAGGGAACAGGGACCCCCTTCTCACCCCAACACACCACCATTCTGCCATGGAGTGCAGGCTCCGTCCAGCCAGCCCCGGTGAGGGAGTCTGTGTCCTTCCCCTCCTTCATGGGGCTCCCTCTCACCCTCACAACAGCATCCTCTCTGGGGACATGCTGGAGACCCCCATGGGCCCCTCCCAGGAGAGGCCAGCTCTGCAGCTTACAGGCCAGGGGAAGCCCACAGCTCGGCCCTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACGCAAAGGTATGGCCGAGTCTCCCCACCACCCCCAACCTTTCCCTATAGCCCCCTTCCCGGGCACGTCCCTGCTGGGGGCTGTCTGAGCCAGTGGCCTAGGCCGGGACTGACCCCATGTGATGGGGGATTGAACTTCCACCCCAGCTGCCTACACACGTGGCCTCTGTCCCCTGGGCTGACCCCACAGAGGTGTGGTCATCTGCCAGCCCGTTGCCAGGGCGGAGCCGCTCTGAGGCCATTTCCCAGTCCCCCGAGCCAGAGGACACAGGGCTCACTCTCTCTCCTGCTCCCTGGGAGGCGGAGACCAGAGCCCTGCTTGCCACCTCCGCAGTGTGTGTGTCTTGGTGTGTGTCACTTGGGGGGATGGCTGGGGGATGTGATGGCCGGCCGGGGGGATGTGATCGGGAGCTGTTCTCCCAATTCCCTGGATACTAATTGCCCCTAGCGCTTTCCCCGGGAACAGGTAGGCGCTCCAAGGGACAGTCGCAGACAAAGCCTTTTATGGCACCAGCCCTTTTTGAAGTACAAGTTGCAATAAAACATATTAGAAGTTTTGCATCAAGATCCTTAGCCGCTCCCCAGGGCACCTTTCTTTTTAGCGACTCGATGGCAGCCCTTGACAAACAGCCTCAATCAATCAGGCCGGGGAAAAGCAACTCAGCGCACACACCAGAAAATTGCTCAGGTTTTTAAATAGCAGTCGCCAAGGCTGGCTGTGAGCTCTCGCTGCAGCCAAGGTGCCGCGTGGTAGGGGAGGCGGCAGGGACGCAGCCCTGCCCCCGCCGCCAGCAACCCATTAAGACCTGGAGTGCTGGGAGGGAAGACCTTCTCCACCATCTGTTGTTTTATTATTAAGAGGGGAGTTTACAAGAGCAAGCCCATATGTTGCCAAACAAATTGTCAAATAGCAGAGCTATTAAGGGAGCCGGGTTGGTGAGGTTTCTCCCCTGGTCTCCTTGATGATATAGAATATGAAGCGTGTTTCATCTTTAAGAATAATGAATTGGAGCCCCCACCCAGCTCTACCCTCACGCCTCGAGTCCTGGATAGAGAGGGGCAGGGCCGACCCATACGTTGCCCTTTCTTTCCGTTAAGTCCCCAGACAAAAGCAGCTTCTGGTTTTTCTAGCATAGATGAGTCTCAGGAGCACACTGCTGTCCTTCCTTCTCAGGTTTTGAGGAGAAGGTGCTGAGCTCAGCTTCCATCCCAAATAACCTTTTGAGCCGGAAAAGTTTGCCAGGGAAAGATGAGCATGGCCCCCTCGGCCACCTACCCTCTCCTGGAGATGGGTTTCATCAGAAATGACTGTGGGGAATCTGAGCACGTTCTAGAAGGAGGCAGAGGCAGTGTTTCTGCACCCAGGAAATGTCAGAATGACTGAGCAGTGATGAGGCCTCCTCCAAAATTCTGAGCCAGGCAGGATCTGAGATGGATGACACAAAAATCAATGGGGCTTTCAAAAATCTCTGCTTTCAAGACGCTTCGGTAGCCAAGGCAAAAAGGCGCCAGAGGACTCATAAAAAACATGCATTTGCTTCGCTGGCCATCCTCTCCCAACCCATCGTCCAACGGAAAAACACTCAGAACCACCCCATCCTTGTCACTGTCACCATAATTTAAAAAAAAATTTTTTTTAGAGACAGTGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCACAATCCTAGCTCATTGCAGCCTCAACCTCCTGGGCTCATCTGACCCTCCTACCTCAGCCTCCTGAGTAGCTGGAACTACAAACGTGCCCTAGTACATCTGGCTAATTTTTGTTTTTCATATATTTATTTATTTATTTTTTTACAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAACTCAAGTAATCCACCCTCCTTGGCCTCCCCAAAGTATTGGGATTGCAGGTGTGAGCCACCACACCCAGCTTTGGCTAATTTTTAAATTTTTTTTTGTAGAGACAGGGTCTTGCTATACTGCCCAGCCTGGCTATAATTATTATTTTTAAAGCCAGACTACAAGGTGGGAGCTAGAAACA
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CAGACTGCTACTACCATCCCCACCCCTCCAGCTTGACCTTGGACCTGGCCTGCGTCCATGCATGAATGATGGACACGTTCCTTCCTTCACTCGCTAGCTCATCCTTCATCCAGTGTCTACTGAGCACCCACTCAGCTCCAGGGGTGCCGAGTGCAGGGCCCAGGGCAGGGCCGAGCAGTGGGAGTTTGAGGCACACTGCCGCTGCAAGCTGCCCAATTTTTCTAGTAGCCATATATATAATATATAAATATTTTTATATAATATGTATTACATATAAATACATATGTTTTATATATATATATATATATATATTTTTTTTTTTTCTTTTTCTGGAGACTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAACCTCTGCCTCCCAAGTTCAAGCAATTCTCCCTGACTCAGCTCCTGAATAACTGGGACTATAGGCATGCGCCACCACACCTGGGGTTTCAGCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTGTAGTAGCCATATTAAAAAATAGAAAAATGAAACAAGTGACATGATTTTAATAACATGTTTTACCGAAACCGATATATCCAAAATATTATCATTCCTCCTATAATCAATGTAAAAAAATAATTATTAATGTTTACATTCTTTTTTCTTCTGTGTTGAGTCTGCAAGACCCAGAATGTGCTGCATGCAGGCATGTCTCGCTAGCTGGCTGGATTTCAGGTGCTCTGAATGGCCACCCGTGGCTTGTGGCCACCTGTGGGCAGCACAGGCCGGGACTGAGCTCTTTTGAGGCCGCTTTGGGCTCAAGCTCTGGAAGAGTTGCCCCCTCCTAAGCCCCCAAGGGGCTCACAGGAGTTTCCATTTTGTTCTTTCTAAGAGGAATCTCTTTCCCCGTCCCTTTAACCAGCTGGTAGCTCTTGGGATGCGTGGCCTGGAGGTGAGCCGTAATGAGCTCTAATGATCTGTTTTGACCCCAGACACCAGGCAGCTCAGTGGCTGGGACAGTAGCTGCTTGTTGACTTGCTGCCAGCGAGGCCGCAGGACGGGGCCCTCCCTCGGTTCCCACAGCAGCTTGTGGGGCCAGGGTGTCCAGTTTCGAGGTCTTTGTCTGCAGAGGCCAAGCCCAGGCACTGAGATGGGATTGGGGCAGGGGCCAAGCTGCTCCAGGAGCTGGGAGTAGGGCTGTGGTCTTCCCATGGCTGCTCTGAGGGGCTGAGGAGGTGGCGGGCCCCTTCCATTGCCCTGCACCACTGTCAGCTCCACGGCCCAGCAGCCAAATGACATCTCCACCCCCACACACACATGCCCCCGAGTCCTGCTCAGAGGCAGGGGCCTGGTGAGCTCCAGGGCTGAGTCGGGGGCTCTTTTTACCAGCTCAGGCCGAGGGGCTCAAGGGGAATGAGCTTGGTCCCTCAGCCAGGCTCAGAGTCTTCCCCCACTTCTTTCCCTTCCACACCCAGAGAAGTGGGTGGGGGGCAGCCTATGCCTCTCTGGGCCCCCGACCACACGTGGGGCCAGGCCAGCAGCGGCAGCTCTGTGGACTCTCCCTGGGTCACGGCAGTGGCCCTGTGGCTGAAGGTGCTGGCAAGGACCATGAACCCCGTCTAGTTCAAACTCTCAGGTCTCATCTGGGGAGACTGAGGCCCAGGGAACAGGGACCCCCTTCTCACCCCAACACACCACCATTCTGCCATGGAGTGCAGGCTCCGTCCAGCCAGCCCCGGTGAGGGAGTCTGTGTCCTTCCCCTCCTTCATGGGGCTCCCTCTCACCCTCACAACAGCATCCTCTCTGGGGACATGCTGGAGACCCCCATGGGCCCCTCCCAGGAGAGGCCAGCTCTGCAGCTTACAGGCCAGGGGAAGCCCACAGCTCGGCCCTCCCGGCTCTGACCCCTTGTCCTATGTCCAGGTCATTGCTCCCTGGAGGATGCCTGAATTCTACAACCGGTTCAAGGGCCGCAATGACCTGATGGAGTACCCAAAGGTATGGCCGAGTCTCCCCACCACCCCCAACCTTTCCCTATAGCCCCCTTCCCGGGCACGTCCCTGCTGGGGGCTGTCTGAGCCAGTGGCCTAGGCCGGGACTGACCCCATGTGATGGGGGATTGAACTTCCACCCCAGCTGCCTACACACGTGGCCTCTGTCCCCTGGGCTGACCCCACAGAGGTGTGGTCATCTGCCAGCCCGTTGCCAGGGCGGAGCCGCTCTGAGGCCATTTCCCAGTCCCCCGAGCCAGAGGACACAGGGCTCACTCTCTCTCCTGCTCCCTGGGAGGCGGAGACCAGAGCCCTGCTTGCCACCTCCGCAGTGTGTGTGTCTTGGTGTGTGTCACTTGGGGGGATGGCTGGGGGATGTGATGGCCGGCCGGGGGGATGTGATCGGGAGCTGTTCTCCCAATTCCCTGGATACTAATTGCCCCTAGCGCTTTCCCCGGGAACAGGTAGGCGCTCCAAGGGACAGTCGCAGACAAAGCCTTTTATGGCACCAGCCCTTTTTGAAGTACAAGTTGCAATAAAACATATTAGAAGTTTTGCATCAAGATCCTTAGCCGCTCCCCAGGGCACCTTTCTTTTTAGCGACTCGATGGCAGCCCTTGACAAACAGCCTCAATCAATCAGGCCGGGGAAAAGCAACTCAGCGCACACACCAGAAAATTGCTCAGGTTTTTAAATAGCAGTCGCCAAGGCTGGCTGTGAGCTCTCGCTGCAGCCAAGGTGCCGCGTGGTAGGGGAGGCGGCAGGGACGCAGCCCTGCCCCCGCCGCCAGCAACCCATTAAGACCTGGAGTGCTGGGAGGGAAGACCTTCTCCACCATCTGTTGTTTTATTATTAAGAGGGGAGTTTACAAGAGCAAGCCCATATGTTGCCAAACAAATTGTCAAATAGCAGAGCTATTAAGGGAGCCGGGTTGGTGAGGTTTCTCCCCTGGTCTCCTTGATGATATAGAATATGAAGCGTGTTTCATCTTTAAGAATAATGAATTGGAGCCCCCACCCAGCTCTACCCTCACGCCTCGAGTCCTGGATAGAGAGGGGCAGGGCCGACCCATACGTTGCCCTTTCTTTCCGTTAAGTCCCCAGACAAAAGCAGCTTCTGGTTTTTCTAGCATAGATGAGTCTCAGGAGCACACTGCTGTCCTTCCTTCTCAGGTTTTGAGGAGAAGGTGCTGAGCTCAGCTTCCATCCCAAATAACCTTTTGAGCCGGAAAAGTTTGCCAGGGAAAGATGAGCATGGCCCCCTCGGCCACCTACCCTCTCCTGGAGATGGGTTTCATCAGAAATGACTGTGGGGAATCTGAGCACGTTCTAGAAGGAGGCAGAGGCAGTGTTTCTGCACCCAGGAAATGTCAGAATGACTGAGCAGTGATGAGGCCTCCTCCAAAATTCTGAGCCAGGCAGGATCTGAGATGGATGACACAAAAATCAATGGGGCTTTCAAAAATCTCTGCTTTCAAGACGCTTCGGTAGCCAAGGCAAAAAGGCGCCAGAGGACTCATAAAAAACATGCATTTGCTTCGCTGGCCATCCTCTCCCAACCCATCGTCCAACGGAAAAACACTCAGAACCACCCCATCCTTGTCACTGTCACCATAATTTAAAAAAAAATTTTTTTTAGAGACAGTGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCACAATCCTAGCTCATTGCAGCCTCAACCTCCTGGGCTCATCTGACCCTCCTACCTCAGCCTCCTGAGTAGCTGGAACTACAAACGTGCCCTAGTACATCTGGCTAATTTTTGTTTTTCATATATTTATTTATTTATTTTTTTACAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAACTCAAGTAATCCACCCTCCTTGGCCTCCCCAAAGTATTGGGATTGCAGGTGTGAGCCACCACACCCAGCTTTGGCTAATTTTTAAATTTTTTTTTGTAGAGACAGGGTCTTGCTATACTGCCCAGCCTGGCTATAATTATTATTTTTAAAGCCAGACTACAAGGTGGGAGCTAGAAACA
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Task1_train_13324
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This is a variant in ASS1 (argininosuccinate synthase 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; Citrullinemia type I
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GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGTGAGGAGCGAGGACGGAGCCCAGCAGGCCACCAGGACATCTCTGCTGGAGAGTCCAGTCTTGCCTTGCACAGGGTCCGGGTACCCATGCCTGGCCAAGGGCACAGGGCGAGTGTGTGGGCTGAAGAGTCTTCAAATTCTAGAGTAGATCGTGGGCTGTGTTTTGTTTTTTTAAATTTCAGTTTTCACGTGTAATATGGTAACTGTTGATGAGATAATCTACACAAACTAAGGCTCTTAGGGGCCCTTAGTGATTTTTTCTTTCTCTTCTTTTTTTTTTCTTTTTTGAGATAGAGTCTCACTCTGTCACCCAAGCTGGGGTGCAATGGCACTATCTCAGCTCACTGCAGCCTCTGCCTCCCAAGTTCAAGTGATGCTCCTACCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTTATCTTTAGTAGAGATAAGGTTTTACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGAGCCACTGCACCTGGCCTTGTAGGCTGTTTTAAAATGAGTCTCCTGGCTTTCTAGAAAACCCCGAAACCAGAGCATTTAGCCTCATTTTAATGTTAAGGTGGTGATGGGGAAACAGCTGCTCCCTGCAGGAGGCCTCTAGAATCTCACCATCTTGGGAATGAGCCTGAGTGGGGTCGATCCCATCAGGAGAGAGATGGGAGGGTGACCCGGTGGGGGCTGCCTGTGGTTCCCACAGGGATCCAGTGGGGCTGAGGGGCTGAAGGGGCTCAGAGGCAGAGCATCCAGTCTCGCTGGCTCTGAGGGGCTGGGTGGGGCCCCTTCAGTGCACCCTGTGCCCTATAAGCTTGGGGCCAGGAGAGCAGTGCCAGGTGTCCGAGTGCAGGAGGAGGCTGGAGTGCACGAGCTGGATTCCAGTCGGGCGTCATCAAGGGTGGTGCGGGTCCCCAGGGCGACAAGCCTCATCTTCTTCCTCCTCTTAAGGCTGAGTCAGGTGGGCCTTCCATGCGTGACCTGCAGCCCTCTTAGCCTGGGCCTCCTGGGCAGAGGTGGGTGTCCTCCTGTAACAACAGACTGGGCCATTTAGGAAGCGAAACAGAGCCAGAGCCGAGTGCCTTGGAGACGGGATCTGCTGGGTGTTCCCCTTCTAGGGTCTGCAGAGTGATGTGTGTGGCTGTTGCGCCAGGCCCAGGGAGGGGTGCCCCCAGAAGGTGTGGGCCATGAGCTAAAAGCTCTCCCTGCATCCTACCTGTCCTGGGGTCCACAGGAAGCACTGCCTGGGCTCTGGTGCCAGGTGCCCCGGTCCACAGTGCGAGCGGGTTCACACAAGCCCCAGCTCGTAGGGTGGTGGCGGGGCTGGTTGGCTGGTGCCGGGAGACCTGGCTGGGCATGGCACCTGCGTGCTTGCTCAGTGCTTCAGGGGTCCTTGAGATGTAGACTCAAAGTCTTCTGGAAGGAACCTCCAAGGTCAGCATTGCAGACACACGGTCCTGCAGTTTCTCTGGGGCATGTCCAGCAATAGGGTCCCCCCAGGGAGGTGACCGTGACCAACACTAGGAGGTAGCCAGGGTCTTGTCTGAATGGGGGCCAGAGTTTGGGGCTCTCTGAAAAAGCAGGGCCCCTGGGACGGACCTCACGCGTCCTTCCAGCCGCCTTACCTCCACCTGTGCTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCACTCCCAAGAACCCGTGGAGCATGGATGAGAACCTCATGCACATCAGGTAAATCCCACCCTCCACCCATCCTTGGTCCTCCCGGGCTCATTCCAAAGGACGGCCACGCGCTGCCCCAGGACGTCCTGGTGACCCCCACACCAGTGGTCCCTGCCCTCGGGGAGCTGAGAGGCCTCAGGCAGGACAGAGGTCGAAGCGCCCGGCTCATGCACTGCCCTCATTGCAGTTCTGCTGAGTGTTGTTGGGGAGATAGATCATGGGGACCCGGCCTCATCAGGAGTATCAAGGAGGGCTTCTTAGAGGAGGTGGCATTCAAGGATGGAGAAGAGGCCCAGATGTGGCACAGGGGAAGAGTGTTTAAGGCAGAGGCAGAGGCCCCCCCAACCACGTGCAGAGCCCCGGGGCAGTCCCCAGAAGACAGGTAAAGGCCCCAGCTCTTTCTTACAACCTGCAGCTCCACGGGTGACTATGGTGGGCCCAGAATGTTTCAGGCAGGTTGGCAGCAGATGCTCTGGCAGAGAGTAAAAGGCAGACCAGGCTCATGGGCACAATGGGGTGTGTGTGTTGGGGGATGGGGACATGCCATGTCCCTCCCCAGCTGACCCTGTCTTTCCTTTCCCCTCCGCAGCTACGAGGCTGGAATCCTGGAGAACCCCAAGGTAATCCCCCAAACCCCATCTCCTCCCAGCTGGCCACCTTTGGTGGTAGCAGCTCCATGCCGATGCTGTCTGATGTATTTATAGCCTAATTTGAAATTTCACGGGGGCCAGCCGTGGGGCTGGGGCCGAGCCCTGCCTGTGTTCCCCGACCCCCGCACTGGCCCCCCTCTGCCCACCGTCTCCTCGCTGCATTTGAAGACCTCCCCCCGCCCTTCCTCTTCTAATTGCCTCTGGGATGAACAGGGGAAGGAAATATCTCAGGGCAGCATAGAGAGAGAGTGTGATTGTGAGACAATAAAGAAGTAATTAGGCAGATGAGACACTTGGGGGAGGGCCCAGCCTGTGCCCACCAGCTCCCAGGCTGTGCTGCTGGAGTTTTGGTTGTGGGGGGTGGGGGGAGGCATGGCTGAGAGCCCTAGGCCCCATTTGTCTGGATCCGTGTTGCACACCCGCCACCACCGGCCACCCTGATCCGGTCCCAAGCTTCCCGGGCGGGCTGGACTGGGCCCTCAGCTCTGTTTGAAGTTTCGGGTTTCTCTCCCGGGGGTAGGGGGCTTCTTTGTGTCTACCCCTGCCCACTGTGGGAGGTGGGGGAGGCAGGGCCAAATCTATCATGGGAAGAGAAAAATCTCTTTGTCCCTGAGGGAATGTGTCTTAGTTCCCGGGCCCAGCCCCACACCCCGGGGAGGCTGGTTTGGAGGCGGGAAAAGTGTGCTTTTTGAGGGGATGCAGCTGGGCCTGGGGGAATCAAGAAGACCAGCTGGAGGGGAGGGTGCCCGGGGAGGTTTGGTGAAATTGGGGAGCGCCAGAGCCCCGCCCAGGATCCCCCAGGGCCCGGGCGTCTGTCACTCTCACGCCCGCGTGCCGCCCCCTGGTCGGTGTTGGCTGTAATATCACATGGCAGCCACCATGTCTGGGGAGCGGGCCGGGGGTGGCATTGTCCTGGCTCAGTTCCTAGGACACTGGCTGGGAGCATCCTCACTTTATGGTTGAGGAAACTGAGGCCCGGGCACCGGCTGCTCAGGGCGAGGGAACGGGCCCTGGGGCTGGTGCCCTCCAGCTCTGTGGCTCCCCTACTGCCCACGGCCCCTCCCTGTCCAAACCTGTCACTCAGGAGAGCTGCCACCCTTGCCCCCTGGGGGCTGATGGCCCCTGTGTGTGGCTGCTGCCTGCTGGTCACAGGTTTTTCTAGTTCATGCTCTGCTGACCCCACAACACTCAGGCCAGCCACCCTAATTAGCCAGTCAGTCAGCTCCAAGGGAGGCAGGGAGGCCGAGCCTGCAGGGTGGCTTCCAGGCAGGGCATCCTCTCAGGCCCGTGGGCCCCAAGCATGCTGGGCAACCACTCCCGGCCATTCTCCAAGCAGCCTATGGCCTCTGCAAGCAGCCTATGGGGGCAGAGAGGA
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GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGTGAGGAGCGAGGACGGAGCCCAGCAGGCCACCAGGACATCTCTGCTGGAGAGTCCAGTCTTGCCTTGCACAGGGTCCGGGTACCCATGCCTGGCCAAGGGCACAGGGCGAGTGTGTGGGCTGAAGAGTCTTCAAATTCTAGAGTAGATCGTGGGCTGTGTTTTGTTTTTTTAAATTTCAGTTTTCACGTGTAATATGGTAACTGTTGATGAGATAATCTACACAAACTAAGGCTCTTAGGGGCCCTTAGTGATTTTTTCTTTCTCTTCTTTTTTTTTTCTTTTTTGAGATAGAGTCTCACTCTGTCACCCAAGCTGGGGTGCAATGGCACTATCTCAGCTCACTGCAGCCTCTGCCTCCCAAGTTCAAGTGATGCTCCTACCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTTATCTTTAGTAGAGATAAGGTTTTACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGAGCCACTGCACCTGGCCTTGTAGGCTGTTTTAAAATGAGTCTCCTGGCTTTCTAGAAAACCCCGAAACCAGAGCATTTAGCCTCATTTTAATGTTAAGGTGGTGATGGGGAAACAGCTGCTCCCTGCAGGAGGCCTCTAGAATCTCACCATCTTGGGAATGAGCCTGAGTGGGGTCGATCCCATCAGGAGAGAGATGGGAGGGTGACCCGGTGGGGGCTGCCTGTGGTTCCCACAGGGATCCAGTGGGGCTGAGGGGCTGAAGGGGCTCAGAGGCAGAGCATCCAGTCTCGCTGGCTCTGAGGGGCTGGGTGGGGCCCCTTCAGTGCACCCTGTGCCCTATAAGCTTGGGGCCAGGAGAGCAGTGCCAGGTGTCCGAGTGCAGGAGGAGGCTGGAGTGCACGAGCTGGATTCCAGTCGGGCGTCATCAAGGGTGGTGCGGGTCCCCAGGGCGACAAGCCTCATCTTCTTCCTCCTCTTAAGGCTGAGTCAGGTGGGCCTTCCATGCGTGACCTGCAGCCCTCTTAGCCTGGGCCTCCTGGGCAGAGGTGGGTGTCCTCCTGTAACAACAGACTGGGCCATTTAGGAAGCGAAACAGAGCCAGAGCCGAGTGCCTTGGAGACGGGATCTGCTGGGTGTTCCCCTTCTAGGGTCTGCAGAGTGATGTGTGTGGCTGTTGCGCCAGGCCCAGGGAGGGGTGCCCCCAGAAGGTGTGGGCCATGAGCTAAAAGCTCTCCCTGCATCCTACCTGTCCTGGGGTCCACAGGAAGCACTGCCTGGGCTCTGGTGCCAGGTGCCCCGGTCCACAGTGCGAGCGGGTTCACACAAGCCCCAGCTCGTAGGGTGGTGGCGGGGCTGGTTGGCTGGTGCCGGGAGACCTGGCTGGGCATGGCACCTGCGTGCTTGCTCAGTGCTTCAGGGGTCCTTGAGATGTAGACTCAAAGTCTTCTGGAAGGAACCTCCAAGGTCAGCATTGCAGACACACGGTCCTGCAGTTTCTCTGGGGCATGTCCAGCAATAGGGTCCCCCCAGGGAGGTGACCGTGACCAACACTAGGAGGTAGCCAGGGTCTTGTCTGAATGGGGGCCAGAGTTTGGGGCTCTCTGAAAAAGCAGGGCCCCTGGGACGGACCTCACGCGTCCTTCCAGCCGCCTTACCTCCACCTGTGCTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCACTCCCAAGAACCCGCGGAGCATGGATGAGAACCTCATGCACATCAGGTAAATCCCACCCTCCACCCATCCTTGGTCCTCCCGGGCTCATTCCAAAGGACGGCCACGCGCTGCCCCAGGACGTCCTGGTGACCCCCACACCAGTGGTCCCTGCCCTCGGGGAGCTGAGAGGCCTCAGGCAGGACAGAGGTCGAAGCGCCCGGCTCATGCACTGCCCTCATTGCAGTTCTGCTGAGTGTTGTTGGGGAGATAGATCATGGGGACCCGGCCTCATCAGGAGTATCAAGGAGGGCTTCTTAGAGGAGGTGGCATTCAAGGATGGAGAAGAGGCCCAGATGTGGCACAGGGGAAGAGTGTTTAAGGCAGAGGCAGAGGCCCCCCCAACCACGTGCAGAGCCCCGGGGCAGTCCCCAGAAGACAGGTAAAGGCCCCAGCTCTTTCTTACAACCTGCAGCTCCACGGGTGACTATGGTGGGCCCAGAATGTTTCAGGCAGGTTGGCAGCAGATGCTCTGGCAGAGAGTAAAAGGCAGACCAGGCTCATGGGCACAATGGGGTGTGTGTGTTGGGGGATGGGGACATGCCATGTCCCTCCCCAGCTGACCCTGTCTTTCCTTTCCCCTCCGCAGCTACGAGGCTGGAATCCTGGAGAACCCCAAGGTAATCCCCCAAACCCCATCTCCTCCCAGCTGGCCACCTTTGGTGGTAGCAGCTCCATGCCGATGCTGTCTGATGTATTTATAGCCTAATTTGAAATTTCACGGGGGCCAGCCGTGGGGCTGGGGCCGAGCCCTGCCTGTGTTCCCCGACCCCCGCACTGGCCCCCCTCTGCCCACCGTCTCCTCGCTGCATTTGAAGACCTCCCCCCGCCCTTCCTCTTCTAATTGCCTCTGGGATGAACAGGGGAAGGAAATATCTCAGGGCAGCATAGAGAGAGAGTGTGATTGTGAGACAATAAAGAAGTAATTAGGCAGATGAGACACTTGGGGGAGGGCCCAGCCTGTGCCCACCAGCTCCCAGGCTGTGCTGCTGGAGTTTTGGTTGTGGGGGGTGGGGGGAGGCATGGCTGAGAGCCCTAGGCCCCATTTGTCTGGATCCGTGTTGCACACCCGCCACCACCGGCCACCCTGATCCGGTCCCAAGCTTCCCGGGCGGGCTGGACTGGGCCCTCAGCTCTGTTTGAAGTTTCGGGTTTCTCTCCCGGGGGTAGGGGGCTTCTTTGTGTCTACCCCTGCCCACTGTGGGAGGTGGGGGAGGCAGGGCCAAATCTATCATGGGAAGAGAAAAATCTCTTTGTCCCTGAGGGAATGTGTCTTAGTTCCCGGGCCCAGCCCCACACCCCGGGGAGGCTGGTTTGGAGGCGGGAAAAGTGTGCTTTTTGAGGGGATGCAGCTGGGCCTGGGGGAATCAAGAAGACCAGCTGGAGGGGAGGGTGCCCGGGGAGGTTTGGTGAAATTGGGGAGCGCCAGAGCCCCGCCCAGGATCCCCCAGGGCCCGGGCGTCTGTCACTCTCACGCCCGCGTGCCGCCCCCTGGTCGGTGTTGGCTGTAATATCACATGGCAGCCACCATGTCTGGGGAGCGGGCCGGGGGTGGCATTGTCCTGGCTCAGTTCCTAGGACACTGGCTGGGAGCATCCTCACTTTATGGTTGAGGAAACTGAGGCCCGGGCACCGGCTGCTCAGGGCGAGGGAACGGGCCCTGGGGCTGGTGCCCTCCAGCTCTGTGGCTCCCCTACTGCCCACGGCCCCTCCCTGTCCAAACCTGTCACTCAGGAGAGCTGCCACCCTTGCCCCCTGGGGGCTGATGGCCCCTGTGTGTGGCTGCTGCCTGCTGGTCACAGGTTTTTCTAGTTCATGCTCTGCTGACCCCACAACACTCAGGCCAGCCACCCTAATTAGCCAGTCAGTCAGCTCCAAGGGAGGCAGGGAGGCCGAGCCTGCAGGGTGGCTTCCAGGCAGGGCATCCTCTCAGGCCCGTGGGCCCCAAGCATGCTGGGCAACCACTCCCGGCCATTCTCCAAGCAGCCTATGGCCTCTGCAAGCAGCCTATGGGGGCAGAGAGGA
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Task1_train_13325
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This variant affects the gene ASS1 (argininosuccinate synthase 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Citrullinemia
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GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGTGAGGAGCGAGGACGGAGCCCAGCAGGCCACCAGGACATCTCTGCTGGAGAGTCCAGTCTTGCCTTGCACAGGGTCCGGGTACCCATGCCTGGCCAAGGGCACAGGGCGAGTGTGTGGGCTGAAGAGTCTTCAAATTCTAGAGTAGATCGTGGGCTGTGTTTTGTTTTTTTAAATTTCAGTTTTCACGTGTAATATGGTAACTGTTGATGAGATAATCTACACAAACTAAGGCTCTTAGGGGCCCTTAGTGATTTTTTCTTTCTCTTCTTTTTTTTTTCTTTTTTGAGATAGAGTCTCACTCTGTCACCCAAGCTGGGGTGCAATGGCACTATCTCAGCTCACTGCAGCCTCTGCCTCCCAAGTTCAAGTGATGCTCCTACCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTTATCTTTAGTAGAGATAAGGTTTTACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGAGCCACTGCACCTGGCCTTGTAGGCTGTTTTAAAATGAGTCTCCTGGCTTTCTAGAAAACCCCGAAACCAGAGCATTTAGCCTCATTTTAATGTTAAGGTGGTGATGGGGAAACAGCTGCTCCCTGCAGGAGGCCTCTAGAATCTCACCATCTTGGGAATGAGCCTGAGTGGGGTCGATCCCATCAGGAGAGAGATGGGAGGGTGACCCGGTGGGGGCTGCCTGTGGTTCCCACAGGGATCCAGTGGGGCTGAGGGGCTGAAGGGGCTCAGAGGCAGAGCATCCAGTCTCGCTGGCTCTGAGGGGCTGGGTGGGGCCCCTTCAGTGCACCCTGTGCCCTATAAGCTTGGGGCCAGGAGAGCAGTGCCAGGTGTCCGAGTGCAGGAGGAGGCTGGAGTGCACGAGCTGGATTCCAGTCGGGCGTCATCAAGGGTGGTGCGGGTCCCCAGGGCGACAAGCCTCATCTTCTTCCTCCTCTTAAGGCTGAGTCAGGTGGGCCTTCCATGCGTGACCTGCAGCCCTCTTAGCCTGGGCCTCCTGGGCAGAGGTGGGTGTCCTCCTGTAACAACAGACTGGGCCATTTAGGAAGCGAAACAGAGCCAGAGCCGAGTGCCTTGGAGACGGGATCTGCTGGGTGTTCCCCTTCTAGGGTCTGCAGAGTGATGTGTGTGGCTGTTGCGCCAGGCCCAGGGAGGGGTGCCCCCAGAAGGTGTGGGCCATGAGCTAAAAGCTCTCCCTGCATCCTACCTGTCCTGGGGTCCACAGGAAGCACTGCCTGGGCTCTGGTGCCAGGTGCCCCGGTCCACAGTGCGAGCGGGTTCACACAAGCCCCAGCTCGTAGGGTGGTGGCGGGGCTGGTTGGCTGGTGCCGGGAGACCTGGCTGGGCATGGCACCTGCGTGCTTGCTCAGTGCTTCAGGGGTCCTTGAGATGTAGACTCAAAGTCTTCTGGAAGGAACCTCCAAGGTCAGCATTGCAGACACACGGTCCTGCAGTTTCTCTGGGGCATGTCCAGCAATAGGGTCCCCCCAGGGAGGTGACCGTGACCAACACTAGGAGGTAGCCAGGGTCTTGTCTGAATGGGGGCCAGAGTTTGGGGCTCTCTGAAAAAGCAGGGCCCCTGGGACGGACCTCACGCGTCCTTCCAGCCGCCTTACCTCCACCTGTGCTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCACTCCCAAGAACCCGTGGAGCATGGATGAGAACCTCATGCACATCAGGTAAATCCCACCCTCCACCCATCCTTGGTCCTCCCGGGCTCATTCCAAAGGACGGCCACGCGCTGCCCCAGGACGTCCTGGTGACCCCCACACCAGTGGTCCCTGCCCTCGGGGAGCTGAGAGGCCTCAGGCAGGACAGAGGTCGAAGCGCCCGGCTCATGCACTGCCCTCATTGCAGTTCTGCTGAGTGTTGTTGGGGAGATAGATCATGGGGACCCGGCCTCATCAGGAGTATCAAGGAGGGCTTCTTAGAGGAGGTGGCATTCAAGGATGGAGAAGAGGCCCAGATGTGGCACAGGGGAAGAGTGTTTAAGGCAGAGGCAGAGGCCCCCCCAACCACGTGCAGAGCCCCGGGGCAGTCCCCAGAAGACAGGTAAAGGCCCCAGCTCTTTCTTACAACCTGCAGCTCCACGGGTGACTATGGTGGGCCCAGAATGTTTCAGGCAGGTTGGCAGCAGATGCTCTGGCAGAGAGTAAAAGGCAGACCAGGCTCATGGGCACAATGGGGTGTGTGTGTTGGGGGATGGGGACATGCCATGTCCCTCCCCAGCTGACCCTGTCTTTCCTTTCCCCTCCGCAGCTACGAGGCTGGAATCCTGGAGAACCCCAAGGTAATCCCCCAAACCCCATCTCCTCCCAGCTGGCCACCTTTGGTGGTAGCAGCTCCATGCCGATGCTGTCTGATGTATTTATAGCCTAATTTGAAATTTCACGGGGGCCAGCCGTGGGGCTGGGGCCGAGCCCTGCCTGTGTTCCCCGACCCCCGCACTGGCCCCCCTCTGCCCACCGTCTCCTCGCTGCATTTGAAGACCTCCCCCCGCCCTTCCTCTTCTAATTGCCTCTGGGATGAACAGGGGAAGGAAATATCTCAGGGCAGCATAGAGAGAGAGTGTGATTGTGAGACAATAAAGAAGTAATTAGGCAGATGAGACACTTGGGGGAGGGCCCAGCCTGTGCCCACCAGCTCCCAGGCTGTGCTGCTGGAGTTTTGGTTGTGGGGGGTGGGGGGAGGCATGGCTGAGAGCCCTAGGCCCCATTTGTCTGGATCCGTGTTGCACACCCGCCACCACCGGCCACCCTGATCCGGTCCCAAGCTTCCCGGGCGGGCTGGACTGGGCCCTCAGCTCTGTTTGAAGTTTCGGGTTTCTCTCCCGGGGGTAGGGGGCTTCTTTGTGTCTACCCCTGCCCACTGTGGGAGGTGGGGGAGGCAGGGCCAAATCTATCATGGGAAGAGAAAAATCTCTTTGTCCCTGAGGGAATGTGTCTTAGTTCCCGGGCCCAGCCCCACACCCCGGGGAGGCTGGTTTGGAGGCGGGAAAAGTGTGCTTTTTGAGGGGATGCAGCTGGGCCTGGGGGAATCAAGAAGACCAGCTGGAGGGGAGGGTGCCCGGGGAGGTTTGGTGAAATTGGGGAGCGCCAGAGCCCCGCCCAGGATCCCCCAGGGCCCGGGCGTCTGTCACTCTCACGCCCGCGTGCCGCCCCCTGGTCGGTGTTGGCTGTAATATCACATGGCAGCCACCATGTCTGGGGAGCGGGCCGGGGGTGGCATTGTCCTGGCTCAGTTCCTAGGACACTGGCTGGGAGCATCCTCACTTTATGGTTGAGGAAACTGAGGCCCGGGCACCGGCTGCTCAGGGCGAGGGAACGGGCCCTGGGGCTGGTGCCCTCCAGCTCTGTGGCTCCCCTACTGCCCACGGCCCCTCCCTGTCCAAACCTGTCACTCAGGAGAGCTGCCACCCTTGCCCCCTGGGGGCTGATGGCCCCTGTGTGTGGCTGCTGCCTGCTGGTCACAGGTTTTTCTAGTTCATGCTCTGCTGACCCCACAACACTCAGGCCAGCCACCCTAATTAGCCAGTCAGTCAGCTCCAAGGGAGGCAGGGAGGCCGAGCCTGCAGGGTGGCTTCCAGGCAGGGCATCCTCTCAGGCCCGTGGGCCCCAAGCATGCTGGGCAACCACTCCCGGCCATTCTCCAAGCAGCCTATGGCCTCTGCAAGCAGCCTATGGGGGCAGAGAGGA
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GGTGGGAGCTAGAAACAGGATGGTCTCACGTTGTCTACATGTTGGAGATCGTTTTGTTTTTTCTCCTCAATTACAATGAGAGTGTGAGGGGAGGCACCTCGGGACCGAGAGAGGCTGGGAAACACAAATCTCTTTGGTCTTGGGAGGGTCATTGTCATTGGCCCCTGTTGCTTTCCTCCCCGCCCTTTAGCCTCTCCTTGCTCCTGGACGGAGGTCCGCTGAGAAGGGAGGCAAAGGTTCTTTCACGCCACCGCCCAAAAACAGAGGCTCCACGGAGCCTGGCCGGCTGCTCTTCTTAGCACCCAGCTGCTGAGCTGAGTGAGGAGCGAGGACGGAGCCCAGCAGGCCACCAGGACATCTCTGCTGGAGAGTCCAGTCTTGCCTTGCACAGGGTCCGGGTACCCATGCCTGGCCAAGGGCACAGGGCGAGTGTGTGGGCTGAAGAGTCTTCAAATTCTAGAGTAGATCGTGGGCTGTGTTTTGTTTTTTTAAATTTCAGTTTTCACGTGTAATATGGTAACTGTTGATGAGATAATCTACACAAACTAAGGCTCTTAGGGGCCCTTAGTGATTTTTTCTTTCTCTTCTTTTTTTTTTCTTTTTTGAGATAGAGTCTCACTCTGTCACCCAAGCTGGGGTGCAATGGCACTATCTCAGCTCACTGCAGCCTCTGCCTCCCAAGTTCAAGTGATGCTCCTACCTCAGTCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTTATCTTTAGTAGAGATAAGGTTTTACCATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAAGTGAGCCACTGCACCTGGCCTTGTAGGCTGTTTTAAAATGAGTCTCCTGGCTTTCTAGAAAACCCCGAAACCAGAGCATTTAGCCTCATTTTAATGTTAAGGTGGTGATGGGGAAACAGCTGCTCCCTGCAGGAGGCCTCTAGAATCTCACCATCTTGGGAATGAGCCTGAGTGGGGTCGATCCCATCAGGAGAGAGATGGGAGGGTGACCCGGTGGGGGCTGCCTGTGGTTCCCACAGGGATCCAGTGGGGCTGAGGGGCTGAAGGGGCTCAGAGGCAGAGCATCCAGTCTCGCTGGCTCTGAGGGGCTGGGTGGGGCCCCTTCAGTGCACCCTGTGCCCTATAAGCTTGGGGCCAGGAGAGCAGTGCCAGGTGTCCGAGTGCAGGAGGAGGCTGGAGTGCACGAGCTGGATTCCAGTCGGGCGTCATCAAGGGTGGTGCGGGTCCCCAGGGCGACAAGCCTCATCTTCTTCCTCCTCTTAAGGCTGAGTCAGGTGGGCCTTCCATGCGTGACCTGCAGCCCTCTTAGCCTGGGCCTCCTGGGCAGAGGTGGGTGTCCTCCTGTAACAACAGACTGGGCCATTTAGGAAGCGAAACAGAGCCAGAGCCGAGTGCCTTGGAGACGGGATCTGCTGGGTGTTCCCCTTCTAGGGTCTGCAGAGTGATGTGTGTGGCTGTTGCGCCAGGCCCAGGGAGGGGTGCCCCCAGAAGGTGTGGGCCATGAGCTAAAAGCTCTCCCTGCATCCTACCTGTCCTGGGGTCCACAGGAAGCACTGCCTGGGCTCTGGTGCCAGGTGCCCCGGTCCACAGTGCGAGCGGGTTCACACAAGCCCCAGCTCGTAGGGTGGTGGCGGGGCTGGTTGGCTGGTGCCGGGAGACCTGGCTGGGCATGGCACCTGCGTGCTTGCTCAGTGCTTCAGGGGTCCTTGAGATGTAGACTCAAAGTCTTCTGGAAGGAACCTCCAAGGTCAGCATTGCAGACACACGGTCCTGCAGTTTCTCTGGGGCATGTCCAGCAATAGGGTCCCCCCAGGGAGGTGACCGTGACCAACACTAGGAGGTAGCCAGGGTCTTGTCTGAATGGGGGCCAGAGTTTGGGGCTCTCTGAAAAAGCAGGGCCCCTGGGACGGACCTCACGCGTCCTTCCAGCCGCCTTACCTCCACCTGTGCTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCACTCCCAAGAACCCGCGGAGCATGGATGAGAACCTCATGCACATCAGGTAAATCCCACCCTCCACCCATCCTTGGTCCTCCCGGGCTCATTCCAAAGGACGGCCACGCGCTGCCCCAGGACGTCCTGGTGACCCCCACACCAGTGGTCCCTGCCCTCGGGGAGCTGAGAGGCCTCAGGCAGGACAGAGGTCGAAGCGCCCGGCTCATGCACTGCCCTCATTGCAGTTCTGCTGAGTGTTGTTGGGGAGATAGATCATGGGGACCCGGCCTCATCAGGAGTATCAAGGAGGGCTTCTTAGAGGAGGTGGCATTCAAGGATGGAGAAGAGGCCCAGATGTGGCACAGGGGAAGAGTGTTTAAGGCAGAGGCAGAGGCCCCCCCAACCACGTGCAGAGCCCCGGGGCAGTCCCCAGAAGACAGGTAAAGGCCCCAGCTCTTTCTTACAACCTGCAGCTCCACGGGTGACTATGGTGGGCCCAGAATGTTTCAGGCAGGTTGGCAGCAGATGCTCTGGCAGAGAGTAAAAGGCAGACCAGGCTCATGGGCACAATGGGGTGTGTGTGTTGGGGGATGGGGACATGCCATGTCCCTCCCCAGCTGACCCTGTCTTTCCTTTCCCCTCCGCAGCTACGAGGCTGGAATCCTGGAGAACCCCAAGGTAATCCCCCAAACCCCATCTCCTCCCAGCTGGCCACCTTTGGTGGTAGCAGCTCCATGCCGATGCTGTCTGATGTATTTATAGCCTAATTTGAAATTTCACGGGGGCCAGCCGTGGGGCTGGGGCCGAGCCCTGCCTGTGTTCCCCGACCCCCGCACTGGCCCCCCTCTGCCCACCGTCTCCTCGCTGCATTTGAAGACCTCCCCCCGCCCTTCCTCTTCTAATTGCCTCTGGGATGAACAGGGGAAGGAAATATCTCAGGGCAGCATAGAGAGAGAGTGTGATTGTGAGACAATAAAGAAGTAATTAGGCAGATGAGACACTTGGGGGAGGGCCCAGCCTGTGCCCACCAGCTCCCAGGCTGTGCTGCTGGAGTTTTGGTTGTGGGGGGTGGGGGGAGGCATGGCTGAGAGCCCTAGGCCCCATTTGTCTGGATCCGTGTTGCACACCCGCCACCACCGGCCACCCTGATCCGGTCCCAAGCTTCCCGGGCGGGCTGGACTGGGCCCTCAGCTCTGTTTGAAGTTTCGGGTTTCTCTCCCGGGGGTAGGGGGCTTCTTTGTGTCTACCCCTGCCCACTGTGGGAGGTGGGGGAGGCAGGGCCAAATCTATCATGGGAAGAGAAAAATCTCTTTGTCCCTGAGGGAATGTGTCTTAGTTCCCGGGCCCAGCCCCACACCCCGGGGAGGCTGGTTTGGAGGCGGGAAAAGTGTGCTTTTTGAGGGGATGCAGCTGGGCCTGGGGGAATCAAGAAGACCAGCTGGAGGGGAGGGTGCCCGGGGAGGTTTGGTGAAATTGGGGAGCGCCAGAGCCCCGCCCAGGATCCCCCAGGGCCCGGGCGTCTGTCACTCTCACGCCCGCGTGCCGCCCCCTGGTCGGTGTTGGCTGTAATATCACATGGCAGCCACCATGTCTGGGGAGCGGGCCGGGGGTGGCATTGTCCTGGCTCAGTTCCTAGGACACTGGCTGGGAGCATCCTCACTTTATGGTTGAGGAAACTGAGGCCCGGGCACCGGCTGCTCAGGGCGAGGGAACGGGCCCTGGGGCTGGTGCCCTCCAGCTCTGTGGCTCCCCTACTGCCCACGGCCCCTCCCTGTCCAAACCTGTCACTCAGGAGAGCTGCCACCCTTGCCCCCTGGGGGCTGATGGCCCCTGTGTGTGGCTGCTGCCTGCTGGTCACAGGTTTTTCTAGTTCATGCTCTGCTGACCCCACAACACTCAGGCCAGCCACCCTAATTAGCCAGTCAGTCAGCTCCAAGGGAGGCAGGGAGGCCGAGCCTGCAGGGTGGCTTCCAGGCAGGGCATCCTCTCAGGCCCGTGGGCCCCAAGCATGCTGGGCAACCACTCCCGGCCATTCTCCAAGCAGCCTATGGCCTCTGCAAGCAGCCTATGGGGGCAGAGAGGA
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Task1_train_13326
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With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Citrullinemia type I
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GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGA
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GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCTGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGA
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Task1_train_13327
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The gene ASS1 (argininosuccinate synthase 1), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Citrullinemia
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GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGA
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GAGCCGTGAGGGTGGGAGGCGGGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCTGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGA
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Task1_train_13328
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A variant was discovered on Chromosome 9, affecting ASS1 (argininosuccinate synthase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Citrullinemia
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GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCA
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GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACTGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCA
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Task1_train_13329
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With a mutation on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Citrullinemia type I
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GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCA
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GGTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACTGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCA
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Task1_train_13330
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Here’s a variant in ASS1 (argininosuccinate synthase 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Citrullinemia type I
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GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCAG
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GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCACTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCAG
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Task1_train_13331
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Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Citrullinemia
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GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCAG
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GTGGCAGGCTGCGGAGGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCACTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCAG
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Task1_train_13332
|
Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Citrullinemia type I
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GGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCAGGCACTACCAAATGAT
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GGGTCCTGGGCACCAGGCTCTGGCAGCCCTGCCCGAGGACCAGGGCAGCTCCGCAGGCTGAGCTGGAGAAGAAACGTGACCTATTGTCATGATTTGGGGACTGTCTGGAAGAAGAAAAAAAGACCGGAGGAACCCTCCCCTGGCTAGTGCCCATTCACTCTCTAGTTAATTTATTTGAAGTTTTAATCTAATTATTAACTATTTTAAAGGCTAAGAGGCTTTCTCCAGCAGCAGCACCAACAATGTCACCTCTTCTCCCGGGCAGGCCCCATCTAAGGCCCCAGCGAAGGCCGATAATAGGACCGGGGAGGGAGAGAAAGGGAGAGAGGAGAGGCGGGGGGTGGTGAGAGGGGCTTAAGGTTCATTATTGGGCAGACTTACATTTAATAGCAATTTACAACCAAGTTATAAAACCCCTGGAAATGGGGGTTAAGAATGGCGAGGCTGACAGCGCCTTGAGTGAAGCCCCTCCAAGCGGCGCCTGGCTAATAAAGCCTCGAAAGCCGCTATTGAGGCCTGATTGGCACCCGATGGCTCGCTCCATGGTAATGAGCCGGGCAGATGGGTGGGGGATTAGCCGCCAACTTTGAACAGCTTTTCTTTGTCACTGTTTCAGCTCTCTTGTTAGCCCCAATACATTTATTGCTCATTTCACACCGCTCGAGAAAGTGCCCCTTGCTATTCAAAGTCAACCCCGAACCCACCCACTGCCCCCACCCAACCCCTTCCCTCCTGCCACCCCGGACCCAGCTCCTCGGATTCAGGGACGCTGCCGACACCTCGCCTGCTGGAGCGGGCACCGTGTCACCCCCATCAATCAGATGGCTGCGTGTGGGTCTGGGGTACAGGGTCGGGGCGCGGGGTCCGCCTGACAGACGTGGCAGGGGGCTGTGTGTGTGTGTGTGTGTGTGTGAGCGAGTATGTGTGTGCTTGAGCCCAGCCACACCTCGGCCAGGCGGCCCCCGGGTGACTGGTGGGACAGAAGGTGCTCCCGGCGTAAGACAATGGTGGAGCGTGAAATTCAATTAGTTCAGGGCCTGGTTCCAATTTCACAGCCCCTAAATGCAAAAGGGGCAAAGAGAATGGGAGGGTGGGGGAGAGCGTTTTTATTGCATTTTCTCTTTCATTCTGGGGGGCTTTCTCGCCCCTTCTCTCCCTGCAGCAGGCCTCAACCTGCACAGGGCTTTTGAAGGAGTCATTTGGAGTCCATATCTGTCACATCCATTTAAGGCGTTTCGGGAGGAGGGAGAGGGTGGGGTGGCGGGTGCAGACTCCTCCGCTGAGCCGGGCCCAGAGGCCCACTGCCCTCTCTTCCCACCCTAGGGGTCCCTGTGAAGGTGACCAACGTCAAGGATGGCACCACCCACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGTGAGTGTCTGCAGCCCTGTCCGGCCTCTTGGGAACCGCCGTCTCGGGCGAGCACGAGCCTGGACCGTTGCAGCTAATGGTTGTGGCTGAGGCTCAGGGGTGCGGAGCACAGGCCATGTCCCTTCCCCATAGCCACAGAGTTTCCCGGACCAGGGGGACCCATTTGGCAGGAGAGGCTCCGTGGTCCTTAGCCTTGGAAGATAACAACCCCAGGAGGTCTCCTGCCTCCAAGGGATCATTAGGCCGGGGCTCTCAGGCCCTTGGCTGGATGGGAGGCCAGGATAGAAGGAAAGGGAGCAGTAGTTAGCTGTGGCGCTAGGCAGGGCCCCAGGACACAGGGAACGGAAGGAACAATGTGAACTCACACCTGGGCAATCCCTGCTCTCTCTGGGCCTCAGTTTCCCCACCTGTCCAGTGGGCACCTGGACTAGGTGACCCGGCTCAGATGTCCTCTTGAGTCTTAGATCCTGAAATGCTGCCTAATGTGTGGCCTAAGCTGTGCCCACCCTGGGACAGCCCAGCTGGGTGGGTGACTCTGAGCCTTGCGGTAGCGCCCGAACCTAATGGACCAGTTCTTCCCACAGGGGCAAGCATGGCGTGGGCCGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAGGTCCCGAGGTGAGTCTGCTCAGCCTCCCTCAGGGCCTGCCTCGGGACCCAGCAAACCCAGAGATCCCTGAGACCCTGTCCCCTTTGGACGCTACTACCCCCATGCTCCGTGGGCGACCTTGGGCACGTCCTTTCACCACACCCCGTGAGACCGCAGTTTCCCTCCTGCCAAGTGGGGATCGTGGGCCCTTTGCCCCTGACTTTCAGGGTGTTATGAGAAGAGCTGTCCAAGGGCTGGGAGAGGCCCAGGAGGGCCTGGGGAGTCTCCGAGGAGCAGGGAGGCCAGGGCCAGGCCTGGAGGTCAGGCTGTCTTGTGTCTGGGGTGGGCAGGCCGGGTGTGGAGGCAGACCGTGCAGGCCCGATTTCGTGGTCATTAAGGCCGCATGGAGGCCGCCGGCCAGGCAGGGCGAAAATCCTGCCAGGGGTGGGCGCTGTGGCTGCACAGGCACTGGGAGCCGGCCAGGGCCTAAGGACCTGTCCCAGCATCAGGCACGGCTCACTGGCCCTTTTCTCCAGGGATGGGGCTGTGCCACAGTTGGGGCTGTGCCGCAGTTGAGGCTGAGCTTCAGTGTGACATGCCTGCCACCTCGGCTGGCCTCTAGCCTGCCTAGCCTCGTATCCGCCTGTGGCTGGGCCCAGGAGCAGGGCAGTTGGTCCCCAAGCAGGTGCCTCTGTCTTCTCTTAGTAGCCAAAGCCCATGATTCCCTTTGTCAGCCAATCAGCATTTCATCTTGACCACAACCCTCCTCTCCAGGACTCAGTTTCCCCATTCATACACCAAGGGGATCTCAGCTCCCTGAGGGTCTGCCAGTGTGTGATAAAGCCATGCTGTGTTCTTTCTTGGGGGTCCTAAGAGGGAAAGAGCAAGGTTTCAGCAGTTGCAGCCCCTGAATTGGGCACCTGAATTTTTATACTGGTGGTGGGGTCAGGGCTTCCTGTTTCGGTAAATGTTCAGGTCTCTTTGCTTAGGGTTGATTTGAAAAGATACCACAACCAAATATCACCTGGCCACGGTATAGTCACGGCCCCATGTCTCTCAGGCTATTTTTACTAAGATTCTAAAATCCAAAGAGAGCCGATCACCCCATGTGGGCCAGAAGAAAAGGGTGGTGGTCCGGAGGGCAGGATGCCTGCTTCTGGTCTCAGGTTTGCCCTGCCTTGCCCAACAACCTTGGACTTGTCATCTATCGCTAGGCCTCAGTTTCCCCAAGTGTAATGCGGTAGGCGCTGGGAGTTGCATCACTCTGGCTCTGACCTGTCTGCGTTTCCCTGGAAAGGCATGGCAGCATGGACCGGGGCGGGGACGGGCTTGCCTCGAAAGACATGGGAGCGCGGAAGGGGAGGCAGGCTCGCCTCTTTCTTGTGGCTTTAGCTCCTTGCTTGCTGTTATTCAGGAGAAACAACCTAATTGAAGCTCTGGGGAGGCCTTGAGAACAATGTTACTAATTAGCTGCTCCTTTTTATCCGGGCTTACCTTTGTCTCTTACCTATATTAACATGTGATTAGATGCCCCTTTGTCGCAGCCTGCCCTTGGGAGCCAGCGCGGTGTGCACCCTCCAGGGAGAGCTGGGAGGGACCTTGAGGAGCCACAGACCAGCACCCCATTTACAGATGCGGAAGCCAGGGCTGGGGAGGGGTGGGATAGAGGGCTTGCTTCAAGTCCCAGGCACTTTAGTGGCAGGACCAGGACTGCCATCTGGGCCCAGAGTGGCATGGAGTGGAGGGCTAACAGCTTAGACTGGAGTTGGACAGATCTGGGTTCAAACTCATGTATGGTGGCAGGAACTGGTACACTGGAAGTGCTCCATAAATAGCCATCAGTCCCCCGGGCATGTGGAATGGGGACAGAAGCAGCCCCCATCCTCTGGGAGCTGTCAGTGTGGCGGGGGGTGGGGTGGGTTCCAGTATTGCACCTGTCTTATCATAATAAGGGCCTGCCACAGGCATGCCCTTGCCATGCCTGTGGCAGGCATCACCAGTCAATGCTGGCATTATCCTGTTGACTCCAGAGGTATCTCAGGGCTGCTTGCAGGCACTACCAAATGAT
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Task1_train_13333
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Gene ASS1 (argininosuccinate synthase 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Citrullinemia
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CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCG
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CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACTGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCG
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Task1_train_13334
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A variant found in Chromosome 9 affects ASS1 (argininosuccinate synthase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Citrullinemia type I
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CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCG
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CAGATCCCCGGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACTGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCG
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Task1_train_13335
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The variant affects gene ASS1 (argininosuccinate synthase 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not specified
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GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCGCAGAGGTGA
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GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGAGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCGCAGAGGTGA
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Task1_train_13336
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This alteration occurs within gene ASS1 (argininosuccinate synthase 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
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Pathogenic; Citrullinemia
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GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCGCAGAGGTGA
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GGTAGGCTTCAGAGTCAAAACCAATATCCTTCATGGTTTTTTTTTTTTTTTAATTTAAAACTGTGGTAAAATACATGTAACATAAAATGAACCATTTTAAAATGCGTAAGCGTGCCGCTCAACGGCATTAGGTCCTTTCCCAGGGCTGTGCCACTGTGACTACCGTCCACCTCCAGAACATTTTCTTTTTGCAAAGCTGAGACTCTGGCCCCATGAAACTCCCCATTTTCCCTACCCCGGCCCCTGGCAGCCACCATTTCTGGCTGTATGATTTTGATGACTCGAGGGACCTCGCATGAGTGGAACATACAGTGTTTGTTTTTGTGCCTGGCCTTTGTCACTTAGCGTCACGGCCTTATGTTGATGCTGTGGCATGTGTCAGGATTTCCTTCCTTTTTTTTTTTTAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGTGAAATCAGCTCACTGCAACCTCTGCCTCCCAGGCTCCAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGTACCACCATGCCCGGCTAAATTTTTTTGTTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTGAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTAGAATTATTACAGTCATGAGCCACTGTGCCCGGCCCCCTTCCTTCTTAAGGCTGAATAATATTCCATCGTATGGATGGACTGCATTTTGCTTCTTCACTCATCCCTCGATGGACACCTGGGTTGCTTCCGCCTCTTGGCTATTGTGATTAATGCTGCTATGAACATGAGTGTACAAATCCTTTCTGGGTTTTTTTCAAGCAGCCACTGTAGAAAGATGTTAGTAAATTCCCAGGATAACTGAGAACCTGCCCTTTTAGTGATGTAACGTATGGTGGAAGAAAGGAAGCTCTCGGGGTAGAATCCATGGAGATGGGGGAGCTATGGCCCCTGCTCCACCCAGACAGCAGCTGCAGGGCAGGCTTGCCCAAGGGCCAGCTCTGAAGTTGATGCGAGAGGTCGCACTCCTGGGGCAAGAGGGGGCCTGGGCTGTGTGCTGTGGGCGGTCCTGCCTCTTGGTGCCCCACTGTCCTCCAATGCAGTAGGACCTTCCCCCAGACCCAGCTCAGCCCAAGACCAGGCATTTCTGTCTCACTCGGAGATCATCTGTTCCAAGCAGGTTGTTTTCCAAATGGAGGGACTGGGCCTGAGGTCACAAGAGGGGACTTGAGCAATCCCTTCTCCCCTGACCTTCCAGGGTTGGGCCTCCACGGCCAGGTGACTTACAGGGCAGCAGACAGCACTGGTGAGGGACTCGGGGGCCTACATTCAGTTCCCAGCTCCACCTAGAGCAAGTCCCTTCTCCTCTTGAGCTCAGTTTCCCCATCTGCACGGTGCGGTCAGCCTAGGTGATTGCCCAAGCCCTCTGCCACCCCAGTGGCCTCTGGAGAGACCTGGCCGCAGGGGCCCCATGGGCTGAAGGTGGCATGTGTGTACACATGTGTACATGTATGTGCACAGCTGTCCCCCTCCCCTGGCTCCCTGGTGGAAGGGAAGAAGGGATATTTGGGGCTCTGGGCTCTACCGTAGTCGCTTTAATTACAGGCTTTCAACCTCGGGCCGGTGGGCACGCATGGGGAGGGAGGGGTTGCTGCTCCGAAACCCTGTCATTTTCTAGCGTCTGAGGGCCCCTTCAAAGGGGGCATCTAGACATTTTCTCCACAAGCCGCAGAGTGGACTGTCGTGGCCCCAGCATGAACATAATGACAGATGCATTTTGCAGCAAGCTGGGAGTGAATGGGTCCGGCCGGCTTGTCTCCTGTCAGACGACTCATTATTATTATTATTTTTTTTTTTGTCATTTGCTGACAGTTTGGGTTTCATGCGTTTCTCTCTTTTTTCTCCTTTTCCCCCTGCCTGGAAAAATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGGACCGGGAAGTGAGCAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTGTATACCGGTGCGTAAGACTCTATGGCTGCCCCCTCTAACCGCCTCACAAGGGATCCCAAAGTACTATCAGGCTCTCGGGCCTGGCCCTCCCCTCCGTATCAGCACCTTCCTCCCCTGCCGCCCACTGCCATCCTCATGTGAGACCCCAAAAGGTGCAGGCCAAAGGGGGTTGAGGGAAAGTGCAGGGCATGAGGGAGCAAGGGGATGCTAGAACCTGCCTTGCCATGGGGTGTGTCCAGGGAGATGCACCGGCTTCCCAAGGTGTCCGGCAGCTTCCACCCCCTACAGTTTGCATGACTGCAGCAATGCCAGGCACTGGGCACTGTGCGGCGACATGCATCACCCCGCATGGTCCTCACAACTTTCCCAGGAGGTCTGCAGCTCCTTGTACACGAGGAAACTGAGGCTCAGAAGGAAAGCATAAAACCAGAAGTGGCCTAGCTGGGTTTGACCCCCAAGTCAGGCTGTCTCCAGGAAGAACCTGGACCTACTCCATGAACTTGAGGGAGAGGCTCCCTGGACCAGGAACTCAGCCCCAGACCCCAGTACCGCAGGAGCCAGATCTTGACCATGAAACCACTGGGGTGGCCACAGGGCCTGAGCCCTGTCACACACCCAGCCCATGTGTGGAAGGACCGGTGGGTGACAGCACCTGAGGCGGGGGTGTCCCCGTTTTGCAGGTGAGGAGCCCGGGTTTCCATGCCTTGGAATCCAGGCCTCCTGACTCCAAAATCCAACCCTCATGTGGTGTAACAGAGGTCCCCAAACTACAGTCCCTGGGTCAAATCCAGCCCGTCACCTGTTTTTGTTCAGCTCATGAGCTAAGAATAGTTTTTACATTTTTATTTTATTTATTTATTTATTTATTTATTTGGGACGGACTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCCTGAGCCTGCTGAGTGACTGGGATTACAGGCATGCGCCACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTCTGTCTGGCCAGTTTTTACATTTTTAAATGGTTGGGAGGAAAAAAAATTTTTTAATGCTATTTCATGACAAATTATATAAAATTCAAGTGTTGCCGGGCACGGTGGCTCATGCCAGGTGAGGTGGCTGTTTCTGCATTGTCTGTGGCTCCCCTGGAGCGGCAAGGGGAGGTTGAGCCATTTGAGAGAGACCATAGGACCCAAAGAGCCTAAAATATTGACTCTCTGGCCCTTCCCACCCACCTCCATAACATACACATAGCCCTGATTTGGGGCGTTACATTAAACAGCTGCCCTGAGCTGTGGGAGGACAGGCTGCTGCCTGAGGCCGATCCTCACATCTTCGGGGGCCTGGACGTCAGGGGACCTGTGCAAAGTTAGTATTAGTTAATCGAATAGCTACCTGGGCTAAGCTCTCCTCCCCTCGCCTCTCCCCCTCCACTCCCAGATTTTGTTTCCTTTTAAGCCTCCTAATCACTGTAACTCATCTCAGGATTTCGAGAGGGCTCGATGGTTATTGGCTGGCGTTATTTCTCCCTGCCATTGTTCCTTGCAGCTTTGAAGCCAAGTTTCTGCCCCCGTTCCCAGGGACAGACAGGTGCTTAAATACCATTGTCTCCTGCAGGCTTTCCAGCCCGGCGGGATTGCGACCCCGAAAGGAGGATTTTAGTTACAAAGTGAGAGAGTCATTAAGACGTGGCGGAGGAGAGAGCACCTGGCCGGGCTGCTCCGGGGCCTCCACGGAGGCTGATCCCACCGTGGCCGCGGCCACGGCTGCCACTTATCCTGCCATCTTGCTGCTAGGCTCTGAGCTGGGCACCTGATGGGGTATTATCTAATATTAGCTGCGCAGAGGTGA
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Task1_train_13337
|
A genomic change on Chromosome 9 affects ASS1 (argininosuccinate synthase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Citrullinemia
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AGAAGAACCCTGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGGGCCTCTCTCCCTGTGTACAGTGAGGGCTGGCACAGAGCATCATGTTCAAACTGCAAATGCAAAACGCTTTGCGCTCTGTGCATTCCCTCACTGCATCCACACAACCTCTGGTTAGCAATGTTTTCTCACTGTGCAAATGAGGAAACCGAGGCACAGGGAGGTTAATCACTTGTCCAGGTGTGGCTGGGATGCGGACTCACAGGGTGGGACACTGGAGAGCAAGGACTCAACCTCTACTCTCCGTGCTTGGCCCTCCCCCGCCTCTGCAAGCCCCAGGACCCCATCCCAGAAGCCTGTCCCCTTTCCCACGGAGGACCTCTGCAGGTGCCCCCAGGGGCCTGGGCCTCCCACAATAGCCGCAGCCCCTGGGCTGACCCAGCCCTTTATCAGGGCAGGAGATCATGCGCCATCTGGCCCTGCAGCTGCCCAGGTGGGCTCACCTTCCAGGCTCCATTTCAGGAAACTCTAGCCTTGCCCTGTCCCTCCCCCCGCCATGGCCTGCCTGCCTGCCTGCCTGCCTGCCCCTTGGTCCCAGCCTCCATCAGCAGAGGCTAGAGAGAGGCCGGGGGCAGACTGGGGTCTGAGCGCTACCCCTCCCTGGCCTTTAGGGCTCTCGGGGAGAGGGGAGGGAGCATGTTTCTCAGGCACCTCCTGCCCCCACCTACACACCAAGGGATGTTCTGGCCATAGAGAAAGCTCCAAGTTTATCATAGGAAGCAGAGTTGTTACAACTTGGGCCAACACAAGTCAAATGGAGGCTCCCCACTTCCGGCCTGTGTGATCCTGGAGAAGTTTCTTAACTTCTCTGAGCCTCCCTTCCTCACCCAGAAAGGGGAGAGGCTAAGAGAGTTTCTCTCAGAGTGCTGTCTATGAGGATTCAGGGAGCTAGCCCAGATCAAAGCCTGAGCGCAGTGCTGCTTATCTATGCAGAAATATTCTATCTGCCCAGGAAAACAGCAGCAGGTGCAGAAAACAGCTCACTGATTCCAAGGGGTGGGCTCTGGCCAGGACTCCAGTTCACAGTAGCCCCTAAGGCTGGTGCTGCTCAGTGCTAGGGGCTCCACATGAAATATTACTGTGACATCCCCACTCAACAGATGGGGAAACAGAGGCACAGAGAGGGGAAGGCTATGCATGGCCATGGTCTGAACCACCACCCAGCTGCCTGCACTGGACACCCATATCACCAAGCCCCAGGCAGCATGTGCCTCTGAGTCCTGTCTGAGGTCTTCTGCCTCCCCCGGAGATTAGAGCCTCCATTGGGCCAGGGATGGGGTCCCTTTACCACTGTGTCCCCAGTTGCTGGCCTGTGGCACTTCCTGAATGCCTATGGCATGAAGCAGTGGGTCACTTCCCTCCTCCTGACCCTTAGGGAAATGACCTAGGTGGTCACCTCCTTACCCACAGGCCCTTTGCAAGGTTAGAGGGCAGGGCTATGAAAGCATGGTCCTCAACTCAGCCACTGGCAAGCGCACATTGTGCCAGTCTCGCGGGAGGCAGTCATGGTCTGCATGGCGGGGTAAACCATGGGGCACCCTTCCTGTGCCCCAGGTCTCCCTGTGTCCTCGCGGTGCAGGAGGCCTCCCTAGTGGTATCCTGTTTTCCTCCCTGTAGGTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAGGTAGGTGCCCCACACCTCATTCTGACCCCCACTTGGGCACAGAGCCTATCTTTTGACTGGATCCTCAAGACATCTGTGCCTGAGCACATGTCAGGCACCATGCAGAGCACAGAGTGATGGTCACAGAGGATATAGACACCACTATGCTCCCGTGGAACTTACAGGCTAGCTGGGAGAAAGGCATGGATCAAACCATTACCAGAATGTAGAATTAGACAAGGTGGCAGCGGGCTGTGAGGAATGCAGGATAGTCTGGCTGGGTATAATAACTGGGATTGGCTAGGAGGGGTGGTGCATGCCTGTAATTTCAGCTACTCAGGAGGCCGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGAAAGACCTTGTCTCAAAAAAATATATATACACACACACATACATATATATATATATATACACATACATATACACACACACACACACACACACACACACATATATATATAAAATAATTGGGGTTGTGAAGAAGCTCCTTTGCTATTCAAACAATAGCAGAAGGAGTTAACAGGTGAATGGGGGGAGGGGTGGAAGGGCAAAAGTGGCCAGGGGGAAGGAGCTGAAGCTAGATCTTAAAGGGAAGGGCAAGATCAGATCTGTGCATTTAGAGGGTCCTCCTGGCTGCTCTGGAGAACGGATTTGAGTAGGTGGGAGGTGGAAGGGCACCTGTGGAAATGCGGTAGCTTGGACCATGCTGATGATTCCTGGACTAGATAGCAGCAGGCGAATGTGACACATATCTAGGAGGAGGGATTGAAATGACTTGGATGTGGAGGGAGATGGAGGGTCCAGAATCACCCTGGTGTCTGGGGTCGTGAGCAGCTGGGTGCAGTCCCTGGGTTGAGGAAATGCTCTTGAGGAAGGATCATGCATTTGGATTTAGGTGTCATGAGTATGGGTTTCTTTTGAGATAGCTGGGAAAAACTAACTGGAAGGCCGCCGGACACTTGGGTCTAGAGTTGAGGAGAACCCAGGCTGAAGACCCTGGAGCATCATAGGCATTTTGATGTTCTCTGAAGCGCTGGGCCAAGAGAGACTGCCTAGGGGAAAGCGTGGAGTGAGACAAGAAGGGAACTAGCCAGGCAAGATGGTGCACACCTGTAATCCCAACTCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACTAAAAATAAAAAAATTAGCTAAGCGTGGTGGCATGTGCTCGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGAGCGTCTCTTGAGTCTGTGAGATCAAGGGCGCATTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACACAGCAAAACCCTGTCTCAAAAAATAAATACATAAAGTATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTGCAGTGAGCCAGGATTGCACCGCTGCACTCTAACCTTAGTAACAAAGCTAGGCACTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAAGGAAACACAACTGGAACCATGAGATTTCTCATTGATGGACCAGGCAGAAGGTGGCCAAGGAGGAGCCCCTGGAGGGGCAGGAGGGCCCTGGTGAGCCAGGGCAAAGGTGGCAGGTAACGATTGGCCACTCCTGTGTCCGCCCCGTGGATGAGAGTGACCTGCACCAAGGGACGAGGTGTCACCTCCAGAGGTCACCTGGCCAAACTAGAGATGGGGCAGGCCCCTGTGGGACAGACAGCCCCCACTAGACGTGGGTCCCCTAAGGCCCAGCTTAGCTCAGGCTAAGGCCAGCCCCTCCCTCCTGGAGGCTGGTTGGGAATTAAAGTACGAGTCTTGTTTGGCAGTCAATATTATTTTTTTCTTTCCCTTCTCCTTGCCATGTTGAGTTTCTCCCCGCTTCA
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AGAAGAACCCTGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGGGCCTCTCTCCCTGTGTACAGTGAGGGCTGGCACAGAGCATCATGTTCAAACTGCAAATGCAAAACGCTTTGCGCTCTGTGCATTCCCTCACTGCATCCACACAACCTCTGGTTAGCAATGTTTTCTCACTGTGCAAATGAGGAAACCGAGGCACAGGGAGGTTAATCACTTGTCCAGGTGTGGCTGGGATGCGGACTCACAGGGTGGGACACTGGAGAGCAAGGACTCAACCTCTACTCTCCGTGCTTGGCCCTCCCCCGCCTCTGCAAGCCCCAGGACCCCATCCCAGAAGCCTGTCCCCTTTCCCACGGAGGACCTCTGCAGGTGCCCCCAGGGGCCTGGGCCTCCCACAATAGCCGCAGCCCCTGGGCTGACCCAGCCCTTTATCAGGGCAGGAGATCATGCGCCATCTGGCCCTGCAGCTGCCCAGGTGGGCTCACCTTCCAGGCTCCATTTCAGGAAACTCTAGCCTTGCCCTGTCCCTCCCCCCGCCATGGCCTGCCTGCCTGCCTGCCTGCCTGCCCCTTGGTCCCAGCCTCCATCAGCAGAGGCTAGAGAGAGGCCGGGGGCAGACTGGGGTCTGAGCGCTACCCCTCCCTGGCCTTTAGGGCTCTCGGGGAGAGGGGAGGGAGCATGTTTCTCAGGCACCTCCTGCCCCCACCTACACACCAAGGGATGTTCTGGCCATAGAGAAAGCTCCAAGTTTATCATAGGAAGCAGAGTTGTTACAACTTGGGCCAACACAAGTCAAATGGAGGCTCCCCACTTCCGGCCTGTGTGATCCTGGAGAAGTTTCTTAACTTCTCTGAGCCTCCCTTCCTCACCCAGAAAGGGGAGAGGCTAAGAGAGTTTCTCTCAGAGTGCTGTCTATGAGGATTCAGGGAGCTAGCCCAGATCAAAGCCTGAGCGCAGTGCTGCTTATCTATGCAGAAATATTCTATCTGCCCAGGAAAACAGCAGCAGGTGCAGAAAACAGCTCACTGATTCCAAGGGGTGGGCTCTGGCCAGGACTCCAGTTCACAGTAGCCCCTAAGGCTGGTGCTGCTCAGTGCTAGGGGCTCCACATGAAATATTACTGTGACATCCCCACTCAACAGATGGGGAAACAGAGGCACAGAGAGGGGAAGGCTATGCATGGCCATGGTCTGAACCACCACCCAGCTGCCTGCACTGGACACCCATATCACCAAGCCCCAGGCAGCATGTGCCTCTGAGTCCTGTCTGAGGTCTTCTGCCTCCCCCGGAGATTAGAGCCTCCATTGGGCCAGGGATGGGGTCCCTTTACCACTGTGTCCCCAGTTGCTGGCCTGTGGCACTTCCTGAATGCCTATGGCATGAAGCAGTGGGTCACTTCCCTCCTCCTGACCCTTAGGGAAATGACCTAGGTGGTCACCTCCTTACCCACAGGCCCTTTGCAAGGTTAGAGGGCAGGGCTATGAAAGCATGGTCCTCAACTCAGCCACTGGCAAGCGCACATTGTGCCAGTCTCGCGGGAGGCAGTCATGGTCTGCATGGCGGGGTAAACCATGGGGCACCCTTCCTGTGCCCCAGGTCTCCCTGTGTCCTCGCGGTGCAGGAGGCCTCCCTAGTGGTATCCTGTTTTCCTCCCTGTAGGTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGGACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAGGTAGGTGCCCCACACCTCATTCTGACCCCCACTTGGGCACAGAGCCTATCTTTTGACTGGATCCTCAAGACATCTGTGCCTGAGCACATGTCAGGCACCATGCAGAGCACAGAGTGATGGTCACAGAGGATATAGACACCACTATGCTCCCGTGGAACTTACAGGCTAGCTGGGAGAAAGGCATGGATCAAACCATTACCAGAATGTAGAATTAGACAAGGTGGCAGCGGGCTGTGAGGAATGCAGGATAGTCTGGCTGGGTATAATAACTGGGATTGGCTAGGAGGGGTGGTGCATGCCTGTAATTTCAGCTACTCAGGAGGCCGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGAAAGACCTTGTCTCAAAAAAATATATATACACACACACATACATATATATATATATATACACATACATATACACACACACACACACACACACACACACATATATATATAAAATAATTGGGGTTGTGAAGAAGCTCCTTTGCTATTCAAACAATAGCAGAAGGAGTTAACAGGTGAATGGGGGGAGGGGTGGAAGGGCAAAAGTGGCCAGGGGGAAGGAGCTGAAGCTAGATCTTAAAGGGAAGGGCAAGATCAGATCTGTGCATTTAGAGGGTCCTCCTGGCTGCTCTGGAGAACGGATTTGAGTAGGTGGGAGGTGGAAGGGCACCTGTGGAAATGCGGTAGCTTGGACCATGCTGATGATTCCTGGACTAGATAGCAGCAGGCGAATGTGACACATATCTAGGAGGAGGGATTGAAATGACTTGGATGTGGAGGGAGATGGAGGGTCCAGAATCACCCTGGTGTCTGGGGTCGTGAGCAGCTGGGTGCAGTCCCTGGGTTGAGGAAATGCTCTTGAGGAAGGATCATGCATTTGGATTTAGGTGTCATGAGTATGGGTTTCTTTTGAGATAGCTGGGAAAAACTAACTGGAAGGCCGCCGGACACTTGGGTCTAGAGTTGAGGAGAACCCAGGCTGAAGACCCTGGAGCATCATAGGCATTTTGATGTTCTCTGAAGCGCTGGGCCAAGAGAGACTGCCTAGGGGAAAGCGTGGAGTGAGACAAGAAGGGAACTAGCCAGGCAAGATGGTGCACACCTGTAATCCCAACTCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACTAAAAATAAAAAAATTAGCTAAGCGTGGTGGCATGTGCTCGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGAGCGTCTCTTGAGTCTGTGAGATCAAGGGCGCATTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACACAGCAAAACCCTGTCTCAAAAAATAAATACATAAAGTATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTGCAGTGAGCCAGGATTGCACCGCTGCACTCTAACCTTAGTAACAAAGCTAGGCACTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAAGGAAACACAACTGGAACCATGAGATTTCTCATTGATGGACCAGGCAGAAGGTGGCCAAGGAGGAGCCCCTGGAGGGGCAGGAGGGCCCTGGTGAGCCAGGGCAAAGGTGGCAGGTAACGATTGGCCACTCCTGTGTCCGCCCCGTGGATGAGAGTGACCTGCACCAAGGGACGAGGTGTCACCTCCAGAGGTCACCTGGCCAAACTAGAGATGGGGCAGGCCCCTGTGGGACAGACAGCCCCCACTAGACGTGGGTCCCCTAAGGCCCAGCTTAGCTCAGGCTAAGGCCAGCCCCTCCCTCCTGGAGGCTGGTTGGGAATTAAAGTACGAGTCTTGTTTGGCAGTCAATATTATTTTTTTCTTTCCCTTCTCCTTGCCATGTTGAGTTTCTCCCCGCTTCA
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Task1_train_13338
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A variant on Chromosome 9 in gene ASS1 (argininosuccinate synthase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Citrullinemia
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TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGGGCCTCTCTCCCTGTGTACAGTGAGGGCTGGCACAGAGCATCATGTTCAAACTGCAAATGCAAAACGCTTTGCGCTCTGTGCATTCCCTCACTGCATCCACACAACCTCTGGTTAGCAATGTTTTCTCACTGTGCAAATGAGGAAACCGAGGCACAGGGAGGTTAATCACTTGTCCAGGTGTGGCTGGGATGCGGACTCACAGGGTGGGACACTGGAGAGCAAGGACTCAACCTCTACTCTCCGTGCTTGGCCCTCCCCCGCCTCTGCAAGCCCCAGGACCCCATCCCAGAAGCCTGTCCCCTTTCCCACGGAGGACCTCTGCAGGTGCCCCCAGGGGCCTGGGCCTCCCACAATAGCCGCAGCCCCTGGGCTGACCCAGCCCTTTATCAGGGCAGGAGATCATGCGCCATCTGGCCCTGCAGCTGCCCAGGTGGGCTCACCTTCCAGGCTCCATTTCAGGAAACTCTAGCCTTGCCCTGTCCCTCCCCCCGCCATGGCCTGCCTGCCTGCCTGCCTGCCTGCCCCTTGGTCCCAGCCTCCATCAGCAGAGGCTAGAGAGAGGCCGGGGGCAGACTGGGGTCTGAGCGCTACCCCTCCCTGGCCTTTAGGGCTCTCGGGGAGAGGGGAGGGAGCATGTTTCTCAGGCACCTCCTGCCCCCACCTACACACCAAGGGATGTTCTGGCCATAGAGAAAGCTCCAAGTTTATCATAGGAAGCAGAGTTGTTACAACTTGGGCCAACACAAGTCAAATGGAGGCTCCCCACTTCCGGCCTGTGTGATCCTGGAGAAGTTTCTTAACTTCTCTGAGCCTCCCTTCCTCACCCAGAAAGGGGAGAGGCTAAGAGAGTTTCTCTCAGAGTGCTGTCTATGAGGATTCAGGGAGCTAGCCCAGATCAAAGCCTGAGCGCAGTGCTGCTTATCTATGCAGAAATATTCTATCTGCCCAGGAAAACAGCAGCAGGTGCAGAAAACAGCTCACTGATTCCAAGGGGTGGGCTCTGGCCAGGACTCCAGTTCACAGTAGCCCCTAAGGCTGGTGCTGCTCAGTGCTAGGGGCTCCACATGAAATATTACTGTGACATCCCCACTCAACAGATGGGGAAACAGAGGCACAGAGAGGGGAAGGCTATGCATGGCCATGGTCTGAACCACCACCCAGCTGCCTGCACTGGACACCCATATCACCAAGCCCCAGGCAGCATGTGCCTCTGAGTCCTGTCTGAGGTCTTCTGCCTCCCCCGGAGATTAGAGCCTCCATTGGGCCAGGGATGGGGTCCCTTTACCACTGTGTCCCCAGTTGCTGGCCTGTGGCACTTCCTGAATGCCTATGGCATGAAGCAGTGGGTCACTTCCCTCCTCCTGACCCTTAGGGAAATGACCTAGGTGGTCACCTCCTTACCCACAGGCCCTTTGCAAGGTTAGAGGGCAGGGCTATGAAAGCATGGTCCTCAACTCAGCCACTGGCAAGCGCACATTGTGCCAGTCTCGCGGGAGGCAGTCATGGTCTGCATGGCGGGGTAAACCATGGGGCACCCTTCCTGTGCCCCAGGTCTCCCTGTGTCCTCGCGGTGCAGGAGGCCTCCCTAGTGGTATCCTGTTTTCCTCCCTGTAGGTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAGGTAGGTGCCCCACACCTCATTCTGACCCCCACTTGGGCACAGAGCCTATCTTTTGACTGGATCCTCAAGACATCTGTGCCTGAGCACATGTCAGGCACCATGCAGAGCACAGAGTGATGGTCACAGAGGATATAGACACCACTATGCTCCCGTGGAACTTACAGGCTAGCTGGGAGAAAGGCATGGATCAAACCATTACCAGAATGTAGAATTAGACAAGGTGGCAGCGGGCTGTGAGGAATGCAGGATAGTCTGGCTGGGTATAATAACTGGGATTGGCTAGGAGGGGTGGTGCATGCCTGTAATTTCAGCTACTCAGGAGGCCGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGAAAGACCTTGTCTCAAAAAAATATATATACACACACACATACATATATATATATATATACACATACATATACACACACACACACACACACACACACACATATATATATAAAATAATTGGGGTTGTGAAGAAGCTCCTTTGCTATTCAAACAATAGCAGAAGGAGTTAACAGGTGAATGGGGGGAGGGGTGGAAGGGCAAAAGTGGCCAGGGGGAAGGAGCTGAAGCTAGATCTTAAAGGGAAGGGCAAGATCAGATCTGTGCATTTAGAGGGTCCTCCTGGCTGCTCTGGAGAACGGATTTGAGTAGGTGGGAGGTGGAAGGGCACCTGTGGAAATGCGGTAGCTTGGACCATGCTGATGATTCCTGGACTAGATAGCAGCAGGCGAATGTGACACATATCTAGGAGGAGGGATTGAAATGACTTGGATGTGGAGGGAGATGGAGGGTCCAGAATCACCCTGGTGTCTGGGGTCGTGAGCAGCTGGGTGCAGTCCCTGGGTTGAGGAAATGCTCTTGAGGAAGGATCATGCATTTGGATTTAGGTGTCATGAGTATGGGTTTCTTTTGAGATAGCTGGGAAAAACTAACTGGAAGGCCGCCGGACACTTGGGTCTAGAGTTGAGGAGAACCCAGGCTGAAGACCCTGGAGCATCATAGGCATTTTGATGTTCTCTGAAGCGCTGGGCCAAGAGAGACTGCCTAGGGGAAAGCGTGGAGTGAGACAAGAAGGGAACTAGCCAGGCAAGATGGTGCACACCTGTAATCCCAACTCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACTAAAAATAAAAAAATTAGCTAAGCGTGGTGGCATGTGCTCGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGAGCGTCTCTTGAGTCTGTGAGATCAAGGGCGCATTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACACAGCAAAACCCTGTCTCAAAAAATAAATACATAAAGTATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTGCAGTGAGCCAGGATTGCACCGCTGCACTCTAACCTTAGTAACAAAGCTAGGCACTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAAGGAAACACAACTGGAACCATGAGATTTCTCATTGATGGACCAGGCAGAAGGTGGCCAAGGAGGAGCCCCTGGAGGGGCAGGAGGGCCCTGGTGAGCCAGGGCAAAGGTGGCAGGTAACGATTGGCCACTCCTGTGTCCGCCCCGTGGATGAGAGTGACCTGCACCAAGGGACGAGGTGTCACCTCCAGAGGTCACCTGGCCAAACTAGAGATGGGGCAGGCCCCTGTGGGACAGACAGCCCCCACTAGACGTGGGTCCCCTAAGGCCCAGCTTAGCTCAGGCTAAGGCCAGCCCCTCCCTCCTGGAGGCTGGTTGGGAATTAAAGTACGAGTCTTGTTTGGCAGTCAATATTATTTTTTTCTTTCCCTTCTCCTTGCCATGTTGAGTTTCTCCCCGCTTCAATCTTTCTAA
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TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGGGCCTCTCTCCCTGTGTACAGTGAGGGCTGGCACAGAGCATCATGTTCAAACTGCAAATGCAAAACGCTTTGCGCTCTGTGCATTCCCTCACTGCATCCACACAACCTCTGGTTAGCAATGTTTTCTCACTGTGCAAATGAGGAAACCGAGGCACAGGGAGGTTAATCACTTGTCCAGGTGTGGCTGGGATGCGGACTCACAGGGTGGGACACTGGAGAGCAAGGACTCAACCTCTACTCTCCGTGCTTGGCCCTCCCCCGCCTCTGCAAGCCCCAGGACCCCATCCCAGAAGCCTGTCCCCTTTCCCACGGAGGACCTCTGCAGGTGCCCCCAGGGGCCTGGGCCTCCCACAATAGCCGCAGCCCCTGGGCTGACCCAGCCCTTTATCAGGGCAGGAGATCATGCGCCATCTGGCCCTGCAGCTGCCCAGGTGGGCTCACCTTCCAGGCTCCATTTCAGGAAACTCTAGCCTTGCCCTGTCCCTCCCCCCGCCATGGCCTGCCTGCCTGCCTGCCTGCCTGCCCCTTGGTCCCAGCCTCCATCAGCAGAGGCTAGAGAGAGGCCGGGGGCAGACTGGGGTCTGAGCGCTACCCCTCCCTGGCCTTTAGGGCTCTCGGGGAGAGGGGAGGGAGCATGTTTCTCAGGCACCTCCTGCCCCCACCTACACACCAAGGGATGTTCTGGCCATAGAGAAAGCTCCAAGTTTATCATAGGAAGCAGAGTTGTTACAACTTGGGCCAACACAAGTCAAATGGAGGCTCCCCACTTCCGGCCTGTGTGATCCTGGAGAAGTTTCTTAACTTCTCTGAGCCTCCCTTCCTCACCCAGAAAGGGGAGAGGCTAAGAGAGTTTCTCTCAGAGTGCTGTCTATGAGGATTCAGGGAGCTAGCCCAGATCAAAGCCTGAGCGCAGTGCTGCTTATCTATGCAGAAATATTCTATCTGCCCAGGAAAACAGCAGCAGGTGCAGAAAACAGCTCACTGATTCCAAGGGGTGGGCTCTGGCCAGGACTCCAGTTCACAGTAGCCCCTAAGGCTGGTGCTGCTCAGTGCTAGGGGCTCCACATGAAATATTACTGTGACATCCCCACTCAACAGATGGGGAAACAGAGGCACAGAGAGGGGAAGGCTATGCATGGCCATGGTCTGAACCACCACCCAGCTGCCTGCACTGGACACCCATATCACCAAGCCCCAGGCAGCATGTGCCTCTGAGTCCTGTCTGAGGTCTTCTGCCTCCCCCGGAGATTAGAGCCTCCATTGGGCCAGGGATGGGGTCCCTTTACCACTGTGTCCCCAGTTGCTGGCCTGTGGCACTTCCTGAATGCCTATGGCATGAAGCAGTGGGTCACTTCCCTCCTCCTGACCCTTAGGGAAATGACCTAGGTGGTCACCTCCTTACCCACAGGCCCTTTGCAAGGTTAGAGGGCAGGGCTATGAAAGCATGGTCCTCAACTCAGCCACTGGCAAGCGCACATTGTGCCAGTCTCGCGGGAGGCAGTCATGGTCTGCATGGCGGGGTAAACCATGGGGCACCCTTCCTGTGCCCCAGGTCTCCCTGTGTCCTCGCGGTGCAGGAGGCCTCCCTAGTGGTATCCTGTTTTCCTCCCTGTAGGTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGTACATCCTCGTCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAGGTAGGTGCCCCACACCTCATTCTGACCCCCACTTGGGCACAGAGCCTATCTTTTGACTGGATCCTCAAGACATCTGTGCCTGAGCACATGTCAGGCACCATGCAGAGCACAGAGTGATGGTCACAGAGGATATAGACACCACTATGCTCCCGTGGAACTTACAGGCTAGCTGGGAGAAAGGCATGGATCAAACCATTACCAGAATGTAGAATTAGACAAGGTGGCAGCGGGCTGTGAGGAATGCAGGATAGTCTGGCTGGGTATAATAACTGGGATTGGCTAGGAGGGGTGGTGCATGCCTGTAATTTCAGCTACTCAGGAGGCCGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGAAAGACCTTGTCTCAAAAAAATATATATACACACACACATACATATATATATATATATACACATACATATACACACACACACACACACACACACACACATATATATATAAAATAATTGGGGTTGTGAAGAAGCTCCTTTGCTATTCAAACAATAGCAGAAGGAGTTAACAGGTGAATGGGGGGAGGGGTGGAAGGGCAAAAGTGGCCAGGGGGAAGGAGCTGAAGCTAGATCTTAAAGGGAAGGGCAAGATCAGATCTGTGCATTTAGAGGGTCCTCCTGGCTGCTCTGGAGAACGGATTTGAGTAGGTGGGAGGTGGAAGGGCACCTGTGGAAATGCGGTAGCTTGGACCATGCTGATGATTCCTGGACTAGATAGCAGCAGGCGAATGTGACACATATCTAGGAGGAGGGATTGAAATGACTTGGATGTGGAGGGAGATGGAGGGTCCAGAATCACCCTGGTGTCTGGGGTCGTGAGCAGCTGGGTGCAGTCCCTGGGTTGAGGAAATGCTCTTGAGGAAGGATCATGCATTTGGATTTAGGTGTCATGAGTATGGGTTTCTTTTGAGATAGCTGGGAAAAACTAACTGGAAGGCCGCCGGACACTTGGGTCTAGAGTTGAGGAGAACCCAGGCTGAAGACCCTGGAGCATCATAGGCATTTTGATGTTCTCTGAAGCGCTGGGCCAAGAGAGACTGCCTAGGGGAAAGCGTGGAGTGAGACAAGAAGGGAACTAGCCAGGCAAGATGGTGCACACCTGTAATCCCAACTCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACTAAAAATAAAAAAATTAGCTAAGCGTGGTGGCATGTGCTCGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGAGCGTCTCTTGAGTCTGTGAGATCAAGGGCGCATTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACACAGCAAAACCCTGTCTCAAAAAATAAATACATAAAGTATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTGCAGTGAGCCAGGATTGCACCGCTGCACTCTAACCTTAGTAACAAAGCTAGGCACTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAAGGAAACACAACTGGAACCATGAGATTTCTCATTGATGGACCAGGCAGAAGGTGGCCAAGGAGGAGCCCCTGGAGGGGCAGGAGGGCCCTGGTGAGCCAGGGCAAAGGTGGCAGGTAACGATTGGCCACTCCTGTGTCCGCCCCGTGGATGAGAGTGACCTGCACCAAGGGACGAGGTGTCACCTCCAGAGGTCACCTGGCCAAACTAGAGATGGGGCAGGCCCCTGTGGGACAGACAGCCCCCACTAGACGTGGGTCCCCTAAGGCCCAGCTTAGCTCAGGCTAAGGCCAGCCCCTCCCTCCTGGAGGCTGGTTGGGAATTAAAGTACGAGTCTTGTTTGGCAGTCAATATTATTTTTTTCTTTCCCTTCTCCTTGCCATGTTGAGTTTCTCCCCGCTTCAATCTTTCTAA
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Task1_train_13339
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Here is a mutation in ASS1 (argininosuccinate synthase 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Citrullinemia type I
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TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGGGCCTCTCTCCCTGTGTACAGTGAGGGCTGGCACAGAGCATCATGTTCAAACTGCAAATGCAAAACGCTTTGCGCTCTGTGCATTCCCTCACTGCATCCACACAACCTCTGGTTAGCAATGTTTTCTCACTGTGCAAATGAGGAAACCGAGGCACAGGGAGGTTAATCACTTGTCCAGGTGTGGCTGGGATGCGGACTCACAGGGTGGGACACTGGAGAGCAAGGACTCAACCTCTACTCTCCGTGCTTGGCCCTCCCCCGCCTCTGCAAGCCCCAGGACCCCATCCCAGAAGCCTGTCCCCTTTCCCACGGAGGACCTCTGCAGGTGCCCCCAGGGGCCTGGGCCTCCCACAATAGCCGCAGCCCCTGGGCTGACCCAGCCCTTTATCAGGGCAGGAGATCATGCGCCATCTGGCCCTGCAGCTGCCCAGGTGGGCTCACCTTCCAGGCTCCATTTCAGGAAACTCTAGCCTTGCCCTGTCCCTCCCCCCGCCATGGCCTGCCTGCCTGCCTGCCTGCCTGCCCCTTGGTCCCAGCCTCCATCAGCAGAGGCTAGAGAGAGGCCGGGGGCAGACTGGGGTCTGAGCGCTACCCCTCCCTGGCCTTTAGGGCTCTCGGGGAGAGGGGAGGGAGCATGTTTCTCAGGCACCTCCTGCCCCCACCTACACACCAAGGGATGTTCTGGCCATAGAGAAAGCTCCAAGTTTATCATAGGAAGCAGAGTTGTTACAACTTGGGCCAACACAAGTCAAATGGAGGCTCCCCACTTCCGGCCTGTGTGATCCTGGAGAAGTTTCTTAACTTCTCTGAGCCTCCCTTCCTCACCCAGAAAGGGGAGAGGCTAAGAGAGTTTCTCTCAGAGTGCTGTCTATGAGGATTCAGGGAGCTAGCCCAGATCAAAGCCTGAGCGCAGTGCTGCTTATCTATGCAGAAATATTCTATCTGCCCAGGAAAACAGCAGCAGGTGCAGAAAACAGCTCACTGATTCCAAGGGGTGGGCTCTGGCCAGGACTCCAGTTCACAGTAGCCCCTAAGGCTGGTGCTGCTCAGTGCTAGGGGCTCCACATGAAATATTACTGTGACATCCCCACTCAACAGATGGGGAAACAGAGGCACAGAGAGGGGAAGGCTATGCATGGCCATGGTCTGAACCACCACCCAGCTGCCTGCACTGGACACCCATATCACCAAGCCCCAGGCAGCATGTGCCTCTGAGTCCTGTCTGAGGTCTTCTGCCTCCCCCGGAGATTAGAGCCTCCATTGGGCCAGGGATGGGGTCCCTTTACCACTGTGTCCCCAGTTGCTGGCCTGTGGCACTTCCTGAATGCCTATGGCATGAAGCAGTGGGTCACTTCCCTCCTCCTGACCCTTAGGGAAATGACCTAGGTGGTCACCTCCTTACCCACAGGCCCTTTGCAAGGTTAGAGGGCAGGGCTATGAAAGCATGGTCCTCAACTCAGCCACTGGCAAGCGCACATTGTGCCAGTCTCGCGGGAGGCAGTCATGGTCTGCATGGCGGGGTAAACCATGGGGCACCCTTCCTGTGCCCCAGGTCTCCCTGTGTCCTCGCGGTGCAGGAGGCCTCCCTAGTGGTATCCTGTTTTCCTCCCTGTAGGTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGTACATCCTCGGCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAGGTAGGTGCCCCACACCTCATTCTGACCCCCACTTGGGCACAGAGCCTATCTTTTGACTGGATCCTCAAGACATCTGTGCCTGAGCACATGTCAGGCACCATGCAGAGCACAGAGTGATGGTCACAGAGGATATAGACACCACTATGCTCCCGTGGAACTTACAGGCTAGCTGGGAGAAAGGCATGGATCAAACCATTACCAGAATGTAGAATTAGACAAGGTGGCAGCGGGCTGTGAGGAATGCAGGATAGTCTGGCTGGGTATAATAACTGGGATTGGCTAGGAGGGGTGGTGCATGCCTGTAATTTCAGCTACTCAGGAGGCCGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGAAAGACCTTGTCTCAAAAAAATATATATACACACACACATACATATATATATATATATACACATACATATACACACACACACACACACACACACACACATATATATATAAAATAATTGGGGTTGTGAAGAAGCTCCTTTGCTATTCAAACAATAGCAGAAGGAGTTAACAGGTGAATGGGGGGAGGGGTGGAAGGGCAAAAGTGGCCAGGGGGAAGGAGCTGAAGCTAGATCTTAAAGGGAAGGGCAAGATCAGATCTGTGCATTTAGAGGGTCCTCCTGGCTGCTCTGGAGAACGGATTTGAGTAGGTGGGAGGTGGAAGGGCACCTGTGGAAATGCGGTAGCTTGGACCATGCTGATGATTCCTGGACTAGATAGCAGCAGGCGAATGTGACACATATCTAGGAGGAGGGATTGAAATGACTTGGATGTGGAGGGAGATGGAGGGTCCAGAATCACCCTGGTGTCTGGGGTCGTGAGCAGCTGGGTGCAGTCCCTGGGTTGAGGAAATGCTCTTGAGGAAGGATCATGCATTTGGATTTAGGTGTCATGAGTATGGGTTTCTTTTGAGATAGCTGGGAAAAACTAACTGGAAGGCCGCCGGACACTTGGGTCTAGAGTTGAGGAGAACCCAGGCTGAAGACCCTGGAGCATCATAGGCATTTTGATGTTCTCTGAAGCGCTGGGCCAAGAGAGACTGCCTAGGGGAAAGCGTGGAGTGAGACAAGAAGGGAACTAGCCAGGCAAGATGGTGCACACCTGTAATCCCAACTCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACTAAAAATAAAAAAATTAGCTAAGCGTGGTGGCATGTGCTCGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGAGCGTCTCTTGAGTCTGTGAGATCAAGGGCGCATTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACACAGCAAAACCCTGTCTCAAAAAATAAATACATAAAGTATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTGCAGTGAGCCAGGATTGCACCGCTGCACTCTAACCTTAGTAACAAAGCTAGGCACTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAAGGAAACACAACTGGAACCATGAGATTTCTCATTGATGGACCAGGCAGAAGGTGGCCAAGGAGGAGCCCCTGGAGGGGCAGGAGGGCCCTGGTGAGCCAGGGCAAAGGTGGCAGGTAACGATTGGCCACTCCTGTGTCCGCCCCGTGGATGAGAGTGACCTGCACCAAGGGACGAGGTGTCACCTCCAGAGGTCACCTGGCCAAACTAGAGATGGGGCAGGCCCCTGTGGGACAGACAGCCCCCACTAGACGTGGGTCCCCTAAGGCCCAGCTTAGCTCAGGCTAAGGCCAGCCCCTCCCTCCTGGAGGCTGGTTGGGAATTAAAGTACGAGTCTTGTTTGGCAGTCAATATTATTTTTTTCTTTCCCTTCTCCTTGCCATGTTGAGTTTCTCCCCGCTTCAATCTTTCTAA
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TGTGGGGCAGAGGTAGAAAATTCTGAGATAAAGCCCAGGCCAGTTGCTCCCACAGAGATCTCTGTCCTATCTCTGGCTCCATCTCCTGCCTGTCTTCCGGCCTGGAAACTTAATGGGCTAATTATCCCAGCTCCGTCAGAAAGATGGCCAAGCCCAGGACACCAGGGCATGGGGGGCTGGGAGAACATCAGTGGCCCCCTCCACGAGGGTCTCGGGGTGTGTTGGAAAAAGCCCTGGGCCAGAGTTAGGAGTGCTTCATCAGACCTGGGCTCTTCCAAAGTCTTGCTGTGTGGCCTTGGACAGGCTCTTTCCCTCTCTGGGCCTCTCTCCCTGTGTACAGTGAGGGCTGGCACAGAGCATCATGTTCAAACTGCAAATGCAAAACGCTTTGCGCTCTGTGCATTCCCTCACTGCATCCACACAACCTCTGGTTAGCAATGTTTTCTCACTGTGCAAATGAGGAAACCGAGGCACAGGGAGGTTAATCACTTGTCCAGGTGTGGCTGGGATGCGGACTCACAGGGTGGGACACTGGAGAGCAAGGACTCAACCTCTACTCTCCGTGCTTGGCCCTCCCCCGCCTCTGCAAGCCCCAGGACCCCATCCCAGAAGCCTGTCCCCTTTCCCACGGAGGACCTCTGCAGGTGCCCCCAGGGGCCTGGGCCTCCCACAATAGCCGCAGCCCCTGGGCTGACCCAGCCCTTTATCAGGGCAGGAGATCATGCGCCATCTGGCCCTGCAGCTGCCCAGGTGGGCTCACCTTCCAGGCTCCATTTCAGGAAACTCTAGCCTTGCCCTGTCCCTCCCCCCGCCATGGCCTGCCTGCCTGCCTGCCTGCCTGCCCCTTGGTCCCAGCCTCCATCAGCAGAGGCTAGAGAGAGGCCGGGGGCAGACTGGGGTCTGAGCGCTACCCCTCCCTGGCCTTTAGGGCTCTCGGGGAGAGGGGAGGGAGCATGTTTCTCAGGCACCTCCTGCCCCCACCTACACACCAAGGGATGTTCTGGCCATAGAGAAAGCTCCAAGTTTATCATAGGAAGCAGAGTTGTTACAACTTGGGCCAACACAAGTCAAATGGAGGCTCCCCACTTCCGGCCTGTGTGATCCTGGAGAAGTTTCTTAACTTCTCTGAGCCTCCCTTCCTCACCCAGAAAGGGGAGAGGCTAAGAGAGTTTCTCTCAGAGTGCTGTCTATGAGGATTCAGGGAGCTAGCCCAGATCAAAGCCTGAGCGCAGTGCTGCTTATCTATGCAGAAATATTCTATCTGCCCAGGAAAACAGCAGCAGGTGCAGAAAACAGCTCACTGATTCCAAGGGGTGGGCTCTGGCCAGGACTCCAGTTCACAGTAGCCCCTAAGGCTGGTGCTGCTCAGTGCTAGGGGCTCCACATGAAATATTACTGTGACATCCCCACTCAACAGATGGGGAAACAGAGGCACAGAGAGGGGAAGGCTATGCATGGCCATGGTCTGAACCACCACCCAGCTGCCTGCACTGGACACCCATATCACCAAGCCCCAGGCAGCATGTGCCTCTGAGTCCTGTCTGAGGTCTTCTGCCTCCCCCGGAGATTAGAGCCTCCATTGGGCCAGGGATGGGGTCCCTTTACCACTGTGTCCCCAGTTGCTGGCCTGTGGCACTTCCTGAATGCCTATGGCATGAAGCAGTGGGTCACTTCCCTCCTCCTGACCCTTAGGGAAATGACCTAGGTGGTCACCTCCTTACCCACAGGCCCTTTGCAAGGTTAGAGGGCAGGGCTATGAAAGCATGGTCCTCAACTCAGCCACTGGCAAGCGCACATTGTGCCAGTCTCGCGGGAGGCAGTCATGGTCTGCATGGCGGGGTAAACCATGGGGCACCCTTCCTGTGCCCCAGGTCTCCCTGTGTCCTCGCGGTGCAGGAGGCCTCCCTAGTGGTATCCTGTTTTCCTCCCTGTAGGTTTCTGGCACAGCCCTGAGTGTGAATTTGTCCGCCACTGCATCGCCAAGTCCCAGGAGCGAGTGGAAGGGAAAGTGCAGGTGTCCGTCCTCAAGGGCCAGGTGTACATCCTCGTCCGGGAGTCCCCACTGTCTCTCTACAATGAGGAGCTGGTGAGGTAGGTGCCCCACACCTCATTCTGACCCCCACTTGGGCACAGAGCCTATCTTTTGACTGGATCCTCAAGACATCTGTGCCTGAGCACATGTCAGGCACCATGCAGAGCACAGAGTGATGGTCACAGAGGATATAGACACCACTATGCTCCCGTGGAACTTACAGGCTAGCTGGGAGAAAGGCATGGATCAAACCATTACCAGAATGTAGAATTAGACAAGGTGGCAGCGGGCTGTGAGGAATGCAGGATAGTCTGGCTGGGTATAATAACTGGGATTGGCTAGGAGGGGTGGTGCATGCCTGTAATTTCAGCTACTCAGGAGGCCGAGGTGGGAAGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATAGAAAGACCTTGTCTCAAAAAAATATATATACACACACACATACATATATATATATATATACACATACATATACACACACACACACACACACACACACACATATATATATAAAATAATTGGGGTTGTGAAGAAGCTCCTTTGCTATTCAAACAATAGCAGAAGGAGTTAACAGGTGAATGGGGGGAGGGGTGGAAGGGCAAAAGTGGCCAGGGGGAAGGAGCTGAAGCTAGATCTTAAAGGGAAGGGCAAGATCAGATCTGTGCATTTAGAGGGTCCTCCTGGCTGCTCTGGAGAACGGATTTGAGTAGGTGGGAGGTGGAAGGGCACCTGTGGAAATGCGGTAGCTTGGACCATGCTGATGATTCCTGGACTAGATAGCAGCAGGCGAATGTGACACATATCTAGGAGGAGGGATTGAAATGACTTGGATGTGGAGGGAGATGGAGGGTCCAGAATCACCCTGGTGTCTGGGGTCGTGAGCAGCTGGGTGCAGTCCCTGGGTTGAGGAAATGCTCTTGAGGAAGGATCATGCATTTGGATTTAGGTGTCATGAGTATGGGTTTCTTTTGAGATAGCTGGGAAAAACTAACTGGAAGGCCGCCGGACACTTGGGTCTAGAGTTGAGGAGAACCCAGGCTGAAGACCCTGGAGCATCATAGGCATTTTGATGTTCTCTGAAGCGCTGGGCCAAGAGAGACTGCCTAGGGGAAAGCGTGGAGTGAGACAAGAAGGGAACTAGCCAGGCAAGATGGTGCACACCTGTAATCCCAACTCTTTGGGAGGCCAAGGCAGGAGGATCGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACTAAAAATAAAAAAATTAGCTAAGCGTGGTGGCATGTGCTCGTGGTCCCAACTACTTGGGAGGCTGAGGTGGGAGCGTCTCTTGAGTCTGTGAGATCAAGGGCGCATTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGCAACACAGCAAAACCCTGTCTCAAAAAATAAATACATAAAGTATTAGCCAGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGCTGGAGGCTGCAGTGAGCCAGGATTGCACCGCTGCACTCTAACCTTAGTAACAAAGCTAGGCACTGTCTCTTTAAAAAAAAAAAAAAAAAAAAAAAAGGAAACACAACTGGAACCATGAGATTTCTCATTGATGGACCAGGCAGAAGGTGGCCAAGGAGGAGCCCCTGGAGGGGCAGGAGGGCCCTGGTGAGCCAGGGCAAAGGTGGCAGGTAACGATTGGCCACTCCTGTGTCCGCCCCGTGGATGAGAGTGACCTGCACCAAGGGACGAGGTGTCACCTCCAGAGGTCACCTGGCCAAACTAGAGATGGGGCAGGCCCCTGTGGGACAGACAGCCCCCACTAGACGTGGGTCCCCTAAGGCCCAGCTTAGCTCAGGCTAAGGCCAGCCCCTCCCTCCTGGAGGCTGGTTGGGAATTAAAGTACGAGTCTTGTTTGGCAGTCAATATTATTTTTTTCTTTCCCTTCTCCTTGCCATGTTGAGTTTCTCCCCGCTTCAATCTTTCTAA
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Task1_train_13340
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This mutation is located in gene PRDM12 (PR/SET domain 12) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome
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ACGCCAGGTGTGAGACCCTCTTAGCCAAGGCGCGTCCGGGTGGTGGAGGGGCGTCTATGCCAACAGGCGTTTGGACAGGGTCTCGCTCATGGGAGGTCAGCTCGCTGTTCTTCCACCCAAGTCCTCCGCGCTGAGGAGAAGGTCTAGGGAGTCCACACAGTCCAGCGGAGACTAATCCGTGAGCCTGACCCACGCCGAGAGGGTCCAGGCACCTCTGTTAGCGGCATCTGAAATTGTAGGCTGGTGATGGGAGCCAGAAGTGCGGCAGGTGGGGTGAGCTCCCTCACCCAGCATGTCAGGGCCTGGGGTCCGAGGCTTGAGGCTGACACTGGGGAGCCGCGAAGCCTGCAGGAAGCGGGGCCTTCCGCTGGGCTCAGCAGCTACCTGCTTCGGGAGAGGGGATCGCTGGGCTCCGAGGTGCCTCGAAACCGCCGCAAAGCAAGTCTGCTCCTGGGATGATGGGCAGGAGGAATAGAGGAGAGGAAGGGAAAGAAGAGAGAGGCAGAGGAGAAAGAAAGAACTAGGAGGCAAGAAGGAAGGGGCGCCGCAACGCCACCGGCTTCCCGAGGTTGCAGCTCAGCAAGGAGCCGGAAAGCCGGGCCGCAAGCCGAACCCGCACTGAGGCCTCTCGCGGAGCTGCCTGCAGTTTCTGAGGGACTTCGCTCTCAGGCACGCCTGCTCCCACCTAGGAAGGGTCTCGGGACCCCTTTCAATCCCCCTATATCCCGTAGGAAATTCTTTTCCCAGAGACAGGCTGCCAGGGCGATTCCTGTCCGCCCATCTCGACCCCCGACCTGGCCCCGCAAGGGCCGGGAGCCTGGCCTTCCATGAAGCTGTCTCAGGCCGGGACCAGCCCCAGCCCCGACGGCCGCTGCGGCCCCGCCTCGGCAGCCCCGTGAGCCCGCGGAGGAGTTTCGCACCCGACCGTGCACAGCGACCGAGTTGGCGCGGCCCGTATGAAGCGAAGCGCCGGCTTCAGCAGCGCAGTCTGAGCAGGGGATCCGCGTGGCAACTAGGGCTGCGCGCGAGCTCGGGGCGACTGTGGCGGCCCGGGGAGTGCAGGGCCGGAGAGGGAAGAGGACGCGGGCTCTGGCCGGGGAGGGAGAGCGGTGCAGGGCTGGGCCGGCCAGCCGGGGCAGCAAAGTAAAGGTGAACGCCGGGCTGGGCCAGGCCGGTGAACATAGATCAGGCCTGAGGGGAGCGCGGGGCCCGAAGCCAGGCGTCCCCTCTTGTCTAGCCTGGTCCCTGGAGTCCTAGAGAGCCTCGCCGCACCCCCTCCCCTTCTCCGTCCCCTCCTCTCCTCAGAGCCGGCTGAGCCTCCCTCCCTGCCCTGCGCTTCCCACGGGGAGAGAAGGAAAAACAGGAGGGGGGAGGAAGGACCAGGAAGGGGAGAGAGGAGTGGAGGGGTACTGTTTGGAGCGGTCCGCGCGCCCCCGCCCCTCGCGCTCTCGCGACGAAGGCTCCTCGAGCCCAGCCGGGTACAACAAGTCTGTCCTCCGACGTCAGGGGGTCATTAATAACCAATTAGGAGGGTCACTGCGGCTCCTATAAAGGCGCTGAGATTTTGCCAAGGGGAAGACGGCCCCGGCCGAGTGTGCGAGAGGCTAGCGCGCGCCTGAGCCCCTTGCTGCCGCTTCCCTGCAACCACCCGCCTCTCACCCACCCTGCACCCCCCGCACCCGCCTCCGCCTCCACCCGCGTCTCTCCACCCTCCGCGCCGCCTTTGCCATCTCTACAGATTTCACCATCTCTCTTCCCCTCTCCCCCTCGTTCGCTTTCCTCCCAGTCGCCCCCTCACCTCCCGCTCCCTCCTGCGTCCTCCTCCTCTCCGTCCTCCCCCTGCTCTGGTTCCTTCTCCATCGCAGCGCTCTCCTCTCGCCCCTTGGGCTCCCCTCTCGCCCGCCCACCTCCCCCGTCGGCCCGGCCGTCCCCCGGCGCCGGGGAGCTCCGGGCCGCCCATGATGGGCTCCGTGCTCCCGGCTGAGGCCCTGGTGCTCAAGACCGGGCTGAAGGCGCCGGGACTGGCGCTGGCCGAGGTTATCACCTCCGACATCCTGCACAGCTTCCTGTACGGCCGCTGGCGCAACGTGCTCGGGGAGCAGCTCTTCGAGGACAAGAGCCACCACGCCAGCCCCAAGACAGCCTTCACCGCCGAGGTGCTGGCGCAGTCCTTCTCCGGCGGTGAGTCCAGCCGTCGGAGCCCGGCGCAATCCCTCCTCCCGGCGACCCCCATTCCCGTCCTGGCGATGCGCGAGACGCGGCTGGGATACCCGGCCTCGCTGCTACTCGCGCCAACCTGGGCTCTCCCGGCGCTCGGTGCACCTCAGTTTCCCCATGGGCCAAACCAGGACGCGAGCCACCAAGCAGCTCCGCAGCCCACCCGGCTCAAGGACCGACCCCGGCGACCCCGTCGCTCGGCCCCGACGCCCCCGCCGGCCCCTCCCTTCCCCTCCTGCGCTTGAGCTGGCGGGTTCCCGGCATTTACAGCCTTACTAGGCGTGTAATAGCAGTTGACTCAAAAAGAAGGGGTTTTAAATTCATTTAGTTAACTTGGGCTTGACCCACGAAAGTTCCCACTTAAACCAAGAACTTTAAAAGGCAGCCGGGGCTGGGGAGGGGGTGGAGGGAGGGCGGGCGGGGAGAAAAAGCCGCGGGGAGAGCGAGGGAGAGAAAGAGAGAGCGAGAAAAGTTTCTTTTCTTTAAGATGTCTCAAGTTCTTATTCCTCATTCATCAACCCGCAAACAATATCTTTCCCTGGCTCTGGCATCTCTGCGCGTCGCCCTCTTTTCCCCCTTTACGATTTCTGTTCCTCTCTTAATTTACCGTGAAGACTAATTCCACTTCCATTCACGCTATGTCAACCATCTAATCCCCCTTTTTTGTAAGGGGAATTCCTCGGCCCCTTTTAAACAAGTCCCCTCCGCATTGAGCTACAATTTACTGCTACAGCATTCTTCCAGGGCTAATGAATTTAGAATTAGCAATTTCTTTCGAATGGAGCCGAATGAATGCGATCACTTTAACAGCGTGACAAATTGCCCGCCGCGCCGCAATGGACACCGTTTAACCCCCCCCTTTCAGCCGGCCCGCTCGCCGGGTATTTTCCCAGGTAGCTTAGAGGGGAACCTTGTAAGACATGGAGGCCGCCCTTGTGCGCCTCGCCGCTTCCAGCCCTGCCGCAGATGCCCGACAGGGGAACCCTCGGGGAGCTGGGGGCCGCCGCGGCTCCTCCCCGCCCAGAGAGATGACATCGGGGTTTGTCTGAGCCCGGGCGCCGCCCTCCCTGGCACCCCAGGGCCTGGGAGCAGAGAGGGACTCGGGCGCGCCCGGGGTCACACAGCGAGCGCAGAGCCTGGCCAGCTGCTGCCGGTGCTTCTTTGGCACCTCCAACACCTGCCAGCCCGAGGTCTGTCCCCAGCGCTGATCACGGCCCGGCTCCTCTGCCAGTGCCCAGAGCCTGGACACACAGTGGGCTCCCGGAAGCCGACTAGGCGAAAGAGTCTCCGGTTGGCCTTCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCGGGGTCCCGGCGGGGAAGGAAGGGCCGGGCCTCGGCTGCCTCGGGCTCTGACCGGTTTTCCTGGCCCCGCCGCCGCAGAAGTGCAGAAGCTGTCCAGCCTGGTGCTGCCTGCGGAGGTGATCATCGCTCAGAGCTCCATCCCTGGCGAGGGCCTCGGCATCTTCTCCAAGACGTGGATCAAGGCGGGAACCGAGATGGGCCCCTTCACCGGCCGCGTGATCGCCCCGGAGCACGTGGACATCTGCAAGAACAACAACCTCAT
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ACGCCAGGTGTGAGACCCTCTTAGCCAAGGCGCGTCCGGGTGGTGGAGGGGCGTCTATGCCAACAGGCGTTTGGACAGGGTCTCGCTCATGGGAGGTCAGCTCGCTGTTCTTCCACCCAAGTCCTCCGCGCTGAGGAGAAGGTCTAGGGAGTCCACACAGTCCAGCGGAGACTAATCCGTGAGCCTGACCCACGCCGAGAGGGTCCAGGCACCTCTGTTAGCGGCATCTGAAATTGTAGGCTGGTGATGGGAGCCAGAAGTGCGGCAGGTGGGGTGAGCTCCCTCACCCAGCATGTCAGGGCCTGGGGTCCGAGGCTTGAGGCTGACACTGGGGAGCCGCGAAGCCTGCAGGAAGCGGGGCCTTCCGCTGGGCTCAGCAGCTACCTGCTTCGGGAGAGGGGATCGCTGGGCTCCGAGGTGCCTCGAAACCGCCGCAAAGCAAGTCTGCTCCTGGGATGATGGGCAGGAGGAATAGAGGAGAGGAAGGGAAAGAAGAGAGAGGCAGAGGAGAAAGAAAGAACTAGGAGGCAAGAAGGAAGGGGCGCCGCAACGCCACCGGCTTCCCGAGGTTGCAGCTCAGCAAGGAGCCGGAAAGCCGGGCCGCAAGCCGAACCCGCACTGAGGCCTCTCGCGGAGCTGCCTGCAGTTTCTGAGGGACTTCGCTCTCAGGCACGCCTGCTCCCACCTAGGAAGGGTCTCGGGACCCCTTTCAATCCCCCTATATCCCGTAGGAAATTCTTTTCCCAGAGACAGGCTGCCAGGGCGATTCCTGTCCGCCCATCTCGACCCCCGACCTGGCCCCGCAAGGGCCGGGAGCCTGGCCTTCCATGAAGCTGTCTCAGGCCGGGACCAGCCCCAGCCCCGACGGCCGCTGCGGCCCCGCCTCGGCAGCCCCGTGAGCCCGCGGAGGAGTTTCGCACCCGACCGTGCACAGCGACCGAGTTGGCGCGGCCCGTATGAAGCGAAGCGCCGGCTTCAGCAGCGCAGTCTGAGCAGGGGATCCGCGTGGCAACTAGGGCTGCGCGCGAGCTCGGGGCGACTGTGGCGGCCCGGGGAGTGCAGGGCCGGAGAGGGAAGAGGACGCGGGCTCTGGCCGGGGAGGGAGAGCGGTGCAGGGCTGGGCCGGCCAGCCGGGGCAGCAAAGTAAAGGTGAACGCCGGGCTGGGCCAGGCCGGTGAACATAGATCAGGCCTGAGGGGAGCGCGGGGCCCGAAGCCAGGCGTCCCCTCTTGTCTAGCCTGGTCCCTGGAGTCCTAGAGAGCCTCGCCGCACCCCCTCCCCTTCTCCGTCCCCTCCTCTCCTCAGAGCCGGCTGAGCCTCCCTCCCTGCCCTGCGCTTCCCACGGGGAGAGAAGGAAAAACAGGAGGGGGGAGGAAGGACCAGGAAGGGGAGAGAGGAGTGGAGGGGTACTGTTTGGAGCGGTCCGCGCGCCCCCGCCCCTCGCGCTCTCGCGACGAAGGCTCCTCGAGCCCAGCCGGGTACAACAAGTCTGTCCTCCGACGTCAGGGGGTCATTAATAACCAATTAGGAGGGTCACTGCGGCTCCTATAAAGGCGCTGAGATTTTGCCAAGGGGAAGACGGCCCCGGCCGAGTGTGCGAGAGGCTAGCGCGCGCCTGAGCCCCTTGCTGCCGCTTCCCTGCAACCACCCGCCTCTCACCCACCCTGCACCCCCCGCACCCGCCTCCGCCTCCACCCGCGTCTCTCCACCCTCCGCGCCGCCTTTGCCATCTCTACAGATTTCACCATCTCTCTTCCCCTCTCCCCCTCGTTCGCTTTCCTCCCAGTCGCCCCCTCACCTCCCGCTCCCTCCTGCGTCCTCCTCCTCTCCGTCCTCCCCCTGCTCTGGTTCCTTCTCCATCGCAGCGCTCTCCTCTCGCCCCTTGGGCTCCCCTCTCGCCCGCCCACCTCCCCCGTCGGCCCGGCCGTCCCCCGGCGCCGGGGAGCTCCGGGCCGCCCATGATGGGCTCCGTGCTCCCGGCTGAGGCCCTGGTGCTCAAGACCGGGCTGAAGGCGCCGGGACTGGCGCTGGCCGAGGTTATCACCTCCTACATCCTGCACAGCTTCCTGTACGGCCGCTGGCGCAACGTGCTCGGGGAGCAGCTCTTCGAGGACAAGAGCCACCACGCCAGCCCCAAGACAGCCTTCACCGCCGAGGTGCTGGCGCAGTCCTTCTCCGGCGGTGAGTCCAGCCGTCGGAGCCCGGCGCAATCCCTCCTCCCGGCGACCCCCATTCCCGTCCTGGCGATGCGCGAGACGCGGCTGGGATACCCGGCCTCGCTGCTACTCGCGCCAACCTGGGCTCTCCCGGCGCTCGGTGCACCTCAGTTTCCCCATGGGCCAAACCAGGACGCGAGCCACCAAGCAGCTCCGCAGCCCACCCGGCTCAAGGACCGACCCCGGCGACCCCGTCGCTCGGCCCCGACGCCCCCGCCGGCCCCTCCCTTCCCCTCCTGCGCTTGAGCTGGCGGGTTCCCGGCATTTACAGCCTTACTAGGCGTGTAATAGCAGTTGACTCAAAAAGAAGGGGTTTTAAATTCATTTAGTTAACTTGGGCTTGACCCACGAAAGTTCCCACTTAAACCAAGAACTTTAAAAGGCAGCCGGGGCTGGGGAGGGGGTGGAGGGAGGGCGGGCGGGGAGAAAAAGCCGCGGGGAGAGCGAGGGAGAGAAAGAGAGAGCGAGAAAAGTTTCTTTTCTTTAAGATGTCTCAAGTTCTTATTCCTCATTCATCAACCCGCAAACAATATCTTTCCCTGGCTCTGGCATCTCTGCGCGTCGCCCTCTTTTCCCCCTTTACGATTTCTGTTCCTCTCTTAATTTACCGTGAAGACTAATTCCACTTCCATTCACGCTATGTCAACCATCTAATCCCCCTTTTTTGTAAGGGGAATTCCTCGGCCCCTTTTAAACAAGTCCCCTCCGCATTGAGCTACAATTTACTGCTACAGCATTCTTCCAGGGCTAATGAATTTAGAATTAGCAATTTCTTTCGAATGGAGCCGAATGAATGCGATCACTTTAACAGCGTGACAAATTGCCCGCCGCGCCGCAATGGACACCGTTTAACCCCCCCCTTTCAGCCGGCCCGCTCGCCGGGTATTTTCCCAGGTAGCTTAGAGGGGAACCTTGTAAGACATGGAGGCCGCCCTTGTGCGCCTCGCCGCTTCCAGCCCTGCCGCAGATGCCCGACAGGGGAACCCTCGGGGAGCTGGGGGCCGCCGCGGCTCCTCCCCGCCCAGAGAGATGACATCGGGGTTTGTCTGAGCCCGGGCGCCGCCCTCCCTGGCACCCCAGGGCCTGGGAGCAGAGAGGGACTCGGGCGCGCCCGGGGTCACACAGCGAGCGCAGAGCCTGGCCAGCTGCTGCCGGTGCTTCTTTGGCACCTCCAACACCTGCCAGCCCGAGGTCTGTCCCCAGCGCTGATCACGGCCCGGCTCCTCTGCCAGTGCCCAGAGCCTGGACACACAGTGGGCTCCCGGAAGCCGACTAGGCGAAAGAGTCTCCGGTTGGCCTTCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCGGGGTCCCGGCGGGGAAGGAAGGGCCGGGCCTCGGCTGCCTCGGGCTCTGACCGGTTTTCCTGGCCCCGCCGCCGCAGAAGTGCAGAAGCTGTCCAGCCTGGTGCTGCCTGCGGAGGTGATCATCGCTCAGAGCTCCATCCCTGGCGAGGGCCTCGGCATCTTCTCCAAGACGTGGATCAAGGCGGGAACCGAGATGGGCCCCTTCACCGGCCGCGTGATCGCCCCGGAGCACGTGGACATCTGCAAGAACAACAACCTCAT
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Task1_train_13341
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Located on Chromosome 9, this mutation impacts LOC126860775, PRDM12 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:133541982-133543181| PR/SET domain 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome
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CTCCGGGCCGCCCATGATGGGCTCCGTGCTCCCGGCTGAGGCCCTGGTGCTCAAGACCGGGCTGAAGGCGCCGGGACTGGCGCTGGCCGAGGTTATCACCTCCGACATCCTGCACAGCTTCCTGTACGGCCGCTGGCGCAACGTGCTCGGGGAGCAGCTCTTCGAGGACAAGAGCCACCACGCCAGCCCCAAGACAGCCTTCACCGCCGAGGTGCTGGCGCAGTCCTTCTCCGGCGGTGAGTCCAGCCGTCGGAGCCCGGCGCAATCCCTCCTCCCGGCGACCCCCATTCCCGTCCTGGCGATGCGCGAGACGCGGCTGGGATACCCGGCCTCGCTGCTACTCGCGCCAACCTGGGCTCTCCCGGCGCTCGGTGCACCTCAGTTTCCCCATGGGCCAAACCAGGACGCGAGCCACCAAGCAGCTCCGCAGCCCACCCGGCTCAAGGACCGACCCCGGCGACCCCGTCGCTCGGCCCCGACGCCCCCGCCGGCCCCTCCCTTCCCCTCCTGCGCTTGAGCTGGCGGGTTCCCGGCATTTACAGCCTTACTAGGCGTGTAATAGCAGTTGACTCAAAAAGAAGGGGTTTTAAATTCATTTAGTTAACTTGGGCTTGACCCACGAAAGTTCCCACTTAAACCAAGAACTTTAAAAGGCAGCCGGGGCTGGGGAGGGGGTGGAGGGAGGGCGGGCGGGGAGAAAAAGCCGCGGGGAGAGCGAGGGAGAGAAAGAGAGAGCGAGAAAAGTTTCTTTTCTTTAAGATGTCTCAAGTTCTTATTCCTCATTCATCAACCCGCAAACAATATCTTTCCCTGGCTCTGGCATCTCTGCGCGTCGCCCTCTTTTCCCCCTTTACGATTTCTGTTCCTCTCTTAATTTACCGTGAAGACTAATTCCACTTCCATTCACGCTATGTCAACCATCTAATCCCCCTTTTTTGTAAGGGGAATTCCTCGGCCCCTTTTAAACAAGTCCCCTCCGCATTGAGCTACAATTTACTGCTACAGCATTCTTCCAGGGCTAATGAATTTAGAATTAGCAATTTCTTTCGAATGGAGCCGAATGAATGCGATCACTTTAACAGCGTGACAAATTGCCCGCCGCGCCGCAATGGACACCGTTTAACCCCCCCCTTTCAGCCGGCCCGCTCGCCGGGTATTTTCCCAGGTAGCTTAGAGGGGAACCTTGTAAGACATGGAGGCCGCCCTTGTGCGCCTCGCCGCTTCCAGCCCTGCCGCAGATGCCCGACAGGGGAACCCTCGGGGAGCTGGGGGCCGCCGCGGCTCCTCCCCGCCCAGAGAGATGACATCGGGGTTTGTCTGAGCCCGGGCGCCGCCCTCCCTGGCACCCCAGGGCCTGGGAGCAGAGAGGGACTCGGGCGCGCCCGGGGTCACACAGCGAGCGCAGAGCCTGGCCAGCTGCTGCCGGTGCTTCTTTGGCACCTCCAACACCTGCCAGCCCGAGGTCTGTCCCCAGCGCTGATCACGGCCCGGCTCCTCTGCCAGTGCCCAGAGCCTGGACACACAGTGGGCTCCCGGAAGCCGACTAGGCGAAAGAGTCTCCGGTTGGCCTTCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCGGGGTCCCGGCGGGGAAGGAAGGGCCGGGCCTCGGCTGCCTCGGGCTCTGACCGGTTTTCCTGGCCCCGCCGCCGCAGAAGTGCAGAAGCTGTCCAGCCTGGTGCTGCCTGCGGAGGTGATCATCGCTCAGAGCTCCATCCCTGGCGAGGGCCTCGGCATCTTCTCCAAGACGTGGATCAAGGCGGGAACCGAGATGGGCCCCTTCACCGGCCGCGTGATCGCCCCGGAGCACGTGGACATCTGCAAGAACAACAACCTCATGTGGGAGGTACGCGCGGGCTGGGGCAGAGGGGCGCAAGGGCCGGCGAGGGGCGCTGGTCGCGGGTAGGACTCGGGCGTCCGGCCGTCGCCGCTTCCACCCGGGCTGAGAGCGGCGGACACTCCTGGCCTGGACGCCCCCTGAGCCGGGACTCTAAGCCGCCCGAGCCTGGAGCTCACCCCGCCTCTAGGCTCCTCCCAACCCGTGCCGAAAATCCGACCCTCCTTCCCCCGGACACCCTGGCAGAGCAAGACTGTGGTTGGCTCCACTTGGCAGATGAGGGCACTGAGACCCAGAGCAGTCAGGTCGCTTGCCCAGGGTCCCCACGCGCCATCCCTCCAGGCCTCTTCCCAGCCACTTACATTCTTTCCCTGGCCCCGGAAGCAGCCTGGGAAGCCCCTCAAGGCCAGTCCTGGGCTGGGGGTGAGGTGGGGCTGGAAAGGAGAATGCCTGGTGAAAGCAGAATGACATTCACGATGACTGTGGCTGAGGTGGCATTGAGTCAGCTTCTGTGTCCCCAGCCTGCAGTCACGGATGACCTCAGTAGCCCATGCCTTACTGTTCCCTTTTCACGGAGGCTCCAAGAGGCTTCCATCCTAGGCCTTTCCACCCATCACAGTGCCAGTGCCAGGGAGGGCCACCCCTGTGCTTCTTCCTAACTTTGCAGAACGGGAAACCCACTGAGGCCAGACTGGTGCACACCCTTCCTAAACTCATTCCCTCGCCCGCTCCCCCACTCCAGCTCCCCCCGGCGGACCCTGGAGAAGCCCAACTTGATAGAACTGCGGGATGGCCCAGAGGCCTCTCTTGACCTCATCTCCCTCCTCTGGAGGGCTGGACCACTAACCACCTTCTCCAGTTGCTGGGTCAGGAAGTTGGGGTCCAGTTTGACCTCTGAGTGGCCTTGGCAGCTCCCGTGAAGGGGTTTAGGCCAAGCTGGAGTGCCACAGTGACCCAGCCCTCCCTCCCTGGACTCCAGGATCCTCCCTCTCTGAGGCCTGGCTGATGTTCCCAGTGCCATGGGGAGCACCTCTGCATCCCTTGAGAGAGCTCAGGGCCACTTTGTCTGGGCAGTGATCCCTTGGAGACCCTCTTCTTCTGGGGGTAGGGAGGACACGGCAACAGGAGCGTGTATCATGGTCAGCCCATAGAGCCCTGGAGACTGATCCCCTGTGGGCCACTTCCAGCCGGCTAGCTTCAGGCAAGTCCCTGCACCTCTCCAGCCTTCCTTTCTTCAGTGGGAAAATGAAGCTTTATCCACTTCCTGGGGCTGTTGTGAGGATGGAGAGTGTGTGTGTGGATGTGCCTGGAAGATGGTACACATGGCATAGCCCTGCCTTACCTGGTCCTTGATCCATCTGTGCCCAGGTGTTCAATGAGGATGGCACGGTGCGCTACTTCATCGATGCCAGCCAGGAGGACCACCGGAGCTGGATGACCTACATCAAGTGTGCACGTAACGAACAGGAGCAGAACCTGGAGGTGGTCCAGATCGGCACCAGCATCTTCTACAAGGCCATTGAGGTGTGTGTGTGTGTGTGCACTGTTGTGTAGGGACCAGCCGGTAAACCCGGCGGGGGGAGGTGTGCAGGGCAGCGGTGTCCAGGAACCACAGTGGACAGAGGGGAGCTGACACTGGCCTCGCTGGCTCTGCGCAGGCCATGGGGCTGTGGCAGACAGGTGGGTCTCCAGACATCCCGCTGTCCAGGTGTGTGACCTCCATGGGAAGCTTTCTGCTGCAGATCAGAAATGATGGAGCTCTCAACTTGACGGCATTGGGAATGTCACGAGCATCTCCATAGTGAGGTCCCCAGATGTTGGCTGACAGTTTCCTGAGGTTCAGGGGTCACAGAGACACAGAGAAGCAAGATGGGGAGAGGCGGCCCAGGGAATGCGTTGGGGTGGGAGAGAGGGCGTGTGTCTGCAGCCGTTTAGCTGTCTGATGGC
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CTCCGGGCCGCCCATGATGGGCTCCGTGCTCCCGGCTGAGGCCCTGGTGCTCAAGACCGGGCTGAAGGCGCCGGGACTGGCGCTGGCCGAGGTTATCACCTCCGACATCCTGCACAGCTTCCTGTACGGCCGCTGGCGCAACGTGCTCGGGGAGCAGCTCTTCGAGGACAAGAGCCACCACGCCAGCCCCAAGACAGCCTTCACCGCCGAGGTGCTGGCGCAGTCCTTCTCCGGCGGTGAGTCCAGCCGTCGGAGCCCGGCGCAATCCCTCCTCCCGGCGACCCCCATTCCCGTCCTGGCGATGCGCGAGACGCGGCTGGGATACCCGGCCTCGCTGCTACTCGCGCCAACCTGGGCTCTCCCGGCGCTCGGTGCACCTCAGTTTCCCCATGGGCCAAACCAGGACGCGAGCCACCAAGCAGCTCCGCAGCCCACCCGGCTCAAGGACCGACCCCGGCGACCCCGTCGCTCGGCCCCGACGCCCCCGCCGGCCCCTCCCTTCCCCTCCTGCGCTTGAGCTGGCGGGTTCCCGGCATTTACAGCCTTACTAGGCGTGTAATAGCAGTTGACTCAAAAAGAAGGGGTTTTAAATTCATTTAGTTAACTTGGGCTTGACCCACGAAAGTTCCCACTTAAACCAAGAACTTTAAAAGGCAGCCGGGGCTGGGGAGGGGGTGGAGGGAGGGCGGGCGGGGAGAAAAAGCCGCGGGGAGAGCGAGGGAGAGAAAGAGAGAGCGAGAAAAGTTTCTTTTCTTTAAGATGTCTCAAGTTCTTATTCCTCATTCATCAACCCGCAAACAATATCTTTCCCTGGCTCTGGCATCTCTGCGCGTCGCCCTCTTTTCCCCCTTTACGATTTCTGTTCCTCTCTTAATTTACCGTGAAGACTAATTCCACTTCCATTCACGCTATGTCAACCATCTAATCCCCCTTTTTTGTAAGGGGAATTCCTCGGCCCCTTTTAAACAAGTCCCCTCCGCATTGAGCTACAATTTACTGCTACAGCATTCTTCCAGGGCTAATGAATTTAGAATTAGCAATTTCTTTCGAATGGAGCCGAATGAATGCGATCACTTTAACAGCGTGACAAATTGCCCGCCGCGCCGCAATGGACACCGTTTAACCCCCCCCTTTCAGCCGGCCCGCTCGCCGGGTATTTTCCCAGGTAGCTTAGAGGGGAACCTTGTAAGACATGGAGGCCGCCCTTGTGCGCCTCGCCGCTTCCAGCCCTGCCGCAGATGCCCGACAGGGGAACCCTCGGGGAGCTGGGGGCCGCCGCGGCTCCTCCCCGCCCAGAGAGATGACATCGGGGTTTGTCTGAGCCCGGGCGCCGCCCTCCCTGGCACCCCAGGGCCTGGGAGCAGAGAGGGACTCGGGCGCGCCCGGGGTCACACAGCGAGCGCAGAGCCTGGCCAGCTGCTGCCGGTGCTTCTTTGGCACCTCCAACACCTGCCAGCCCGAGGTCTGTCCCCAGCGCTGATCACGGCCCGGCTCCTCTGCCAGTGCCCAGAGCCTGGACACACAGTGGGCTCCCGGAAGCCGACTAGGCGAAAGAGTCTCCGGTTGGCCTTCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCGGGGTCCCGGCGGGGAAGGAAGGGCCGGGCCTCGGCTGCCTCGGGCTCTGACCGGTTTTCCTGGCCCCGCCGCCGCAGAAGTGCAGAAGCTGTCCAGCCTGGTGCTGCCTGCGGAGGTGATCATCGCTCAGAGCTCCATCCCTGGCGAGGGCCTCGGCAACTTCTCCAAGACGTGGATCAAGGCGGGAACCGAGATGGGCCCCTTCACCGGCCGCGTGATCGCCCCGGAGCACGTGGACATCTGCAAGAACAACAACCTCATGTGGGAGGTACGCGCGGGCTGGGGCAGAGGGGCGCAAGGGCCGGCGAGGGGCGCTGGTCGCGGGTAGGACTCGGGCGTCCGGCCGTCGCCGCTTCCACCCGGGCTGAGAGCGGCGGACACTCCTGGCCTGGACGCCCCCTGAGCCGGGACTCTAAGCCGCCCGAGCCTGGAGCTCACCCCGCCTCTAGGCTCCTCCCAACCCGTGCCGAAAATCCGACCCTCCTTCCCCCGGACACCCTGGCAGAGCAAGACTGTGGTTGGCTCCACTTGGCAGATGAGGGCACTGAGACCCAGAGCAGTCAGGTCGCTTGCCCAGGGTCCCCACGCGCCATCCCTCCAGGCCTCTTCCCAGCCACTTACATTCTTTCCCTGGCCCCGGAAGCAGCCTGGGAAGCCCCTCAAGGCCAGTCCTGGGCTGGGGGTGAGGTGGGGCTGGAAAGGAGAATGCCTGGTGAAAGCAGAATGACATTCACGATGACTGTGGCTGAGGTGGCATTGAGTCAGCTTCTGTGTCCCCAGCCTGCAGTCACGGATGACCTCAGTAGCCCATGCCTTACTGTTCCCTTTTCACGGAGGCTCCAAGAGGCTTCCATCCTAGGCCTTTCCACCCATCACAGTGCCAGTGCCAGGGAGGGCCACCCCTGTGCTTCTTCCTAACTTTGCAGAACGGGAAACCCACTGAGGCCAGACTGGTGCACACCCTTCCTAAACTCATTCCCTCGCCCGCTCCCCCACTCCAGCTCCCCCCGGCGGACCCTGGAGAAGCCCAACTTGATAGAACTGCGGGATGGCCCAGAGGCCTCTCTTGACCTCATCTCCCTCCTCTGGAGGGCTGGACCACTAACCACCTTCTCCAGTTGCTGGGTCAGGAAGTTGGGGTCCAGTTTGACCTCTGAGTGGCCTTGGCAGCTCCCGTGAAGGGGTTTAGGCCAAGCTGGAGTGCCACAGTGACCCAGCCCTCCCTCCCTGGACTCCAGGATCCTCCCTCTCTGAGGCCTGGCTGATGTTCCCAGTGCCATGGGGAGCACCTCTGCATCCCTTGAGAGAGCTCAGGGCCACTTTGTCTGGGCAGTGATCCCTTGGAGACCCTCTTCTTCTGGGGGTAGGGAGGACACGGCAACAGGAGCGTGTATCATGGTCAGCCCATAGAGCCCTGGAGACTGATCCCCTGTGGGCCACTTCCAGCCGGCTAGCTTCAGGCAAGTCCCTGCACCTCTCCAGCCTTCCTTTCTTCAGTGGGAAAATGAAGCTTTATCCACTTCCTGGGGCTGTTGTGAGGATGGAGAGTGTGTGTGTGGATGTGCCTGGAAGATGGTACACATGGCATAGCCCTGCCTTACCTGGTCCTTGATCCATCTGTGCCCAGGTGTTCAATGAGGATGGCACGGTGCGCTACTTCATCGATGCCAGCCAGGAGGACCACCGGAGCTGGATGACCTACATCAAGTGTGCACGTAACGAACAGGAGCAGAACCTGGAGGTGGTCCAGATCGGCACCAGCATCTTCTACAAGGCCATTGAGGTGTGTGTGTGTGTGTGCACTGTTGTGTAGGGACCAGCCGGTAAACCCGGCGGGGGGAGGTGTGCAGGGCAGCGGTGTCCAGGAACCACAGTGGACAGAGGGGAGCTGACACTGGCCTCGCTGGCTCTGCGCAGGCCATGGGGCTGTGGCAGACAGGTGGGTCTCCAGACATCCCGCTGTCCAGGTGTGTGACCTCCATGGGAAGCTTTCTGCTGCAGATCAGAAATGATGGAGCTCTCAACTTGACGGCATTGGGAATGTCACGAGCATCTCCATAGTGAGGTCCCCAGATGTTGGCTGACAGTTTCCTGAGGTTCAGGGGTCACAGAGACACAGAGAAGCAAGATGGGGAGAGGCGGCCCAGGGAATGCGTTGGGGTGGGAGAGAGGGCGTGTGTCTGCAGCCGTTTAGCTGTCTGATGGC
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Task1_train_13342
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A genetic alteration is present in PRDM12 (PR/SET domain 12) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome
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TCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCGGGGTCCCGGCGGGGAAGGAAGGGCCGGGCCTCGGCTGCCTCGGGCTCTGACCGGTTTTCCTGGCCCCGCCGCCGCAGAAGTGCAGAAGCTGTCCAGCCTGGTGCTGCCTGCGGAGGTGATCATCGCTCAGAGCTCCATCCCTGGCGAGGGCCTCGGCATCTTCTCCAAGACGTGGATCAAGGCGGGAACCGAGATGGGCCCCTTCACCGGCCGCGTGATCGCCCCGGAGCACGTGGACATCTGCAAGAACAACAACCTCATGTGGGAGGTACGCGCGGGCTGGGGCAGAGGGGCGCAAGGGCCGGCGAGGGGCGCTGGTCGCGGGTAGGACTCGGGCGTCCGGCCGTCGCCGCTTCCACCCGGGCTGAGAGCGGCGGACACTCCTGGCCTGGACGCCCCCTGAGCCGGGACTCTAAGCCGCCCGAGCCTGGAGCTCACCCCGCCTCTAGGCTCCTCCCAACCCGTGCCGAAAATCCGACCCTCCTTCCCCCGGACACCCTGGCAGAGCAAGACTGTGGTTGGCTCCACTTGGCAGATGAGGGCACTGAGACCCAGAGCAGTCAGGTCGCTTGCCCAGGGTCCCCACGCGCCATCCCTCCAGGCCTCTTCCCAGCCACTTACATTCTTTCCCTGGCCCCGGAAGCAGCCTGGGAAGCCCCTCAAGGCCAGTCCTGGGCTGGGGGTGAGGTGGGGCTGGAAAGGAGAATGCCTGGTGAAAGCAGAATGACATTCACGATGACTGTGGCTGAGGTGGCATTGAGTCAGCTTCTGTGTCCCCAGCCTGCAGTCACGGATGACCTCAGTAGCCCATGCCTTACTGTTCCCTTTTCACGGAGGCTCCAAGAGGCTTCCATCCTAGGCCTTTCCACCCATCACAGTGCCAGTGCCAGGGAGGGCCACCCCTGTGCTTCTTCCTAACTTTGCAGAACGGGAAACCCACTGAGGCCAGACTGGTGCACACCCTTCCTAAACTCATTCCCTCGCCCGCTCCCCCACTCCAGCTCCCCCCGGCGGACCCTGGAGAAGCCCAACTTGATAGAACTGCGGGATGGCCCAGAGGCCTCTCTTGACCTCATCTCCCTCCTCTGGAGGGCTGGACCACTAACCACCTTCTCCAGTTGCTGGGTCAGGAAGTTGGGGTCCAGTTTGACCTCTGAGTGGCCTTGGCAGCTCCCGTGAAGGGGTTTAGGCCAAGCTGGAGTGCCACAGTGACCCAGCCCTCCCTCCCTGGACTCCAGGATCCTCCCTCTCTGAGGCCTGGCTGATGTTCCCAGTGCCATGGGGAGCACCTCTGCATCCCTTGAGAGAGCTCAGGGCCACTTTGTCTGGGCAGTGATCCCTTGGAGACCCTCTTCTTCTGGGGGTAGGGAGGACACGGCAACAGGAGCGTGTATCATGGTCAGCCCATAGAGCCCTGGAGACTGATCCCCTGTGGGCCACTTCCAGCCGGCTAGCTTCAGGCAAGTCCCTGCACCTCTCCAGCCTTCCTTTCTTCAGTGGGAAAATGAAGCTTTATCCACTTCCTGGGGCTGTTGTGAGGATGGAGAGTGTGTGTGTGGATGTGCCTGGAAGATGGTACACATGGCATAGCCCTGCCTTACCTGGTCCTTGATCCATCTGTGCCCAGGTGTTCAATGAGGATGGCACGGTGCGCTACTTCATCGATGCCAGCCAGGAGGACCACCGGAGCTGGATGACCTACATCAAGTGTGCACGTAACGAACAGGAGCAGAACCTGGAGGTGGTCCAGATCGGCACCAGCATCTTCTACAAGGCCATTGAGGTGTGTGTGTGTGTGTGCACTGTTGTGTAGGGACCAGCCGGTAAACCCGGCGGGGGGAGGTGTGCAGGGCAGCGGTGTCCAGGAACCACAGTGGACAGAGGGGAGCTGACACTGGCCTCGCTGGCTCTGCGCAGGCCATGGGGCTGTGGCAGACAGGTGGGTCTCCAGACATCCCGCTGTCCAGGTGTGTGACCTCCATGGGAAGCTTTCTGCTGCAGATCAGAAATGATGGAGCTCTCAACTTGACGGCATTGGGAATGTCACGAGCATCTCCATAGTGAGGTCCCCAGATGTTGGCTGACAGTTTCCTGAGGTTCAGGGGTCACAGAGACACAGAGAAGCAAGATGGGGAGAGGCGGCCCAGGGAATGCGTTGGGGTGGGAGAGAGGGCGTGTGTCTGCAGCCGTTTAGCTGTCTGATGGCCCTCATTCTGCATGCATGGGCACCAGTGGCTTACGGCTCATGACTCCAGACTCAGCGATGGCTCCCCGTGTGTCAGGCTTCTCCCAGATGCTGGATATGCAGTATGGTATTTAATCCCCACGGGGCCCCAGGAGGAGGATTCTGTGATTATTTACAGTTTACTGACCAGAAAACCAGGTCTCCCTCGGTGGCAGCAGACTTGGGGGTTTTGCCGGCCATCTGGGGGGAGTGTTAGCACTAATAGCTGCGCTTCCTGAGCCTTCTCAGAGGAGACAGACAGGGCCAGGTAACAGCCTGAACACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGAATTGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGCATCTCAAAAATAAATAAATAAATAAATAAAAATAAAAATACAAATACAAAAATTAGTGGGGCGTGGTGGCAGACGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGTCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAAAAAAAGGCTTGGCACAGTGGCTCAAGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATCACGAGGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGTGTGGTTGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGTAACCGGTAAATATCACTTCCTGTGGTGTGGCAGGGGTGAGGCTGAGCCAGGAAGGTTCAGAGGAGGGTGGGAAGAGGAGGGTGGGAAGAGGAGGGCTTCCTGGTAGGGCAGTGCCTGGTGGCAGAAAAGATCCAGGTATCTGGCCAGTGGCTGAGGGTGCAAACCAAGCAGAGACGTGGTTGCCAGGGCAGGCCCACACTGGGACCCTCCCTGGACAGTGTCCTTTGGCGGGAAATCTGGCCCAGGAGTAGAGGGAAGCTACCCACAGGCTGCTGGGGGTAGGCTGGTAGCAAGTGCTGTGCAGAGGCAGTCAGGTGCTTCCCACCCCACTTCTCTGCTCCCCTTGGGGTTGGGCTAGGGCTTGGTGGAGATTTTTGGGTGTTCTGGAGGAGCAGAGAGTGACCGACCTTTAGTCCATGTTCCATTTTCTCCCCAGGACTCAGACCTTGAAGCTCTTTCTAAGACC
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TCACCTCCTTGCAGGACCTGGCCTCAGTTTCCCTGTGCATAAAACCGCTCGCTGCCGTTGGCTCATTAATTCTTAAACTTATCCGGGGCAGAGGATGGAAGAAGTTGCGAATGCTTTGAGAATTCGCGGAGAGACTAAAAACCCACTTCTAAAAATGATCCCCAACGCACCACTCGCTTTCCAGGGCACGGAGGGTCTCCAGGTTGCAAACAGAGGAGAGGTCGTTGAGCCTCCGCACATCCGACTTCCTCCACACCCGGGTGGCTTCTCTGGATTTGGGGCCGACTTGGGTTTGGCTGGTCTGGGCAGGACCGAAGCCGGGGTCCCGGCGGGGAAGGAAGGGCCGGGCCTCGGCTGCCTCGGGCTCTGACCGGTTTTCCTGGCCCCGCCGCCGCAGAAGTGCAGAAGCTGTCCAGCCTGGTGCTGCCTGCGGAGGTGATCATCGCTCAGAGCTCCATCCCTGGCGAGGGCCTCGGCATCTTCTCCAAGACGTGGATCAAGGCGGGAACCGAGATGGGCCCCTTCACCGGCCGCGTGATCGCCCCGGAGCACGTGGACATCTGCAAGAACAACAACCTCATGTGGGAGGTACGCGCGGGCTGGGGCAGAGGGGCGCAAGGGCCGGCGAGGGGCGCTGGTCGCGGGTAGGACTCGGGCGTCCGGCCGTCGCCGCTTCCACCCGGGCTGAGAGCGGCGGACACTCCTGGCCTGGACGCCCCCTGAGCCGGGACTCTAAGCCGCCCGAGCCTGGAGCTCACCCCGCCTCTAGGCTCCTCCCAACCCGTGCCGAAAATCCGACCCTCCTTCCCCCGGACACCCTGGCAGAGCAAGACTGTGGTTGGCTCCACTTGGCAGATGAGGGCACTGAGACCCAGAGCAGTCAGGTCGCTTGCCCAGGGTCCCCACGCGCCATCCCTCCAGGCCTCTTCCCAGCCACTTACATTCTTTCCCTGGCCCCGGAAGCAGCCTGGGAAGCCCCTCAAGGCCAGTCCTGGGCTGGGGGTGAGGTGGGGCTGGAAAGGAGAATGCCTGGTGAAAGCAGAATGACATTCACGATGACTGTGGCTGAGGTGGCATTGAGTCAGCTTCTGTGTCCCCAGCCTGCAGTCACGGATGACCTCAGTAGCCCATGCCTTACTGTTCCCTTTTCACGGAGGCTCCAAGAGGCTTCCATCCTAGGCCTTTCCACCCATCACAGTGCCAGTGCCAGGGAGGGCCACCCCTGTGCTTCTTCCTAACTTTGCAGAACGGGAAACCCACTGAGGCCAGACTGGTGCACACCCTTCCTAAACTCATTCCCTCGCCCGCTCCCCCACTCCAGCTCCCCCCGGCGGACCCTGGAGAAGCCCAACTTGATAGAACTGCGGGATGGCCCAGAGGCCTCTCTTGACCTCATCTCCCTCCTCTGGAGGGCTGGACCACTAACCACCTTCTCCAGTTGCTGGGTCAGGAAGTTGGGGTCCAGTTTGACCTCTGAGTGGCCTTGGCAGCTCCCGTGAAGGGGTTTAGGCCAAGCTGGAGTGCCACAGTGACCCAGCCCTCCCTCCCTGGACTCCAGGATCCTCCCTCTCTGAGGCCTGGCTGATGTTCCCAGTGCCATGGGGAGCACCTCTGCATCCCTTGAGAGAGCTCAGGGCCACTTTGTCTGGGCAGTGATCCCTTGGAGACCCTCTTCTTCTGGGGGTAGGGAGGACACGGCAACAGGAGCGTGTATCATGGTCAGCCCATAGAGCCCTGGAGACTGATCCCCTGTGGGCCACTTCCAGCCGGCTAGCTTCAGGCAAGTCCCTGCACCTCTCCAGCCTTCCTTTCTTCAGTGGGAAAATGAAGCTTTATCCACTTCCTGGGGCTGTTGTGAGGATGGAGAGTGTGTGTGTGGATGTGCCTGGAAGATGGTACACATGGCATAGCCCTGCCTTACCTGGTCCTTGATCCATCTGTGCCCAGGTGTTCAATGAGGATGGCACGGTGCGCTACTTCATCGATGCCAGCCAGGAGGACCACCGGAGCTGGATGACCTACATCAAGTGTGCACGTAACGAACAGGACCAGAACCTGGAGGTGGTCCAGATCGGCACCAGCATCTTCTACAAGGCCATTGAGGTGTGTGTGTGTGTGTGCACTGTTGTGTAGGGACCAGCCGGTAAACCCGGCGGGGGGAGGTGTGCAGGGCAGCGGTGTCCAGGAACCACAGTGGACAGAGGGGAGCTGACACTGGCCTCGCTGGCTCTGCGCAGGCCATGGGGCTGTGGCAGACAGGTGGGTCTCCAGACATCCCGCTGTCCAGGTGTGTGACCTCCATGGGAAGCTTTCTGCTGCAGATCAGAAATGATGGAGCTCTCAACTTGACGGCATTGGGAATGTCACGAGCATCTCCATAGTGAGGTCCCCAGATGTTGGCTGACAGTTTCCTGAGGTTCAGGGGTCACAGAGACACAGAGAAGCAAGATGGGGAGAGGCGGCCCAGGGAATGCGTTGGGGTGGGAGAGAGGGCGTGTGTCTGCAGCCGTTTAGCTGTCTGATGGCCCTCATTCTGCATGCATGGGCACCAGTGGCTTACGGCTCATGACTCCAGACTCAGCGATGGCTCCCCGTGTGTCAGGCTTCTCCCAGATGCTGGATATGCAGTATGGTATTTAATCCCCACGGGGCCCCAGGAGGAGGATTCTGTGATTATTTACAGTTTACTGACCAGAAAACCAGGTCTCCCTCGGTGGCAGCAGACTTGGGGGTTTTGCCGGCCATCTGGGGGGAGTGTTAGCACTAATAGCTGCGCTTCCTGAGCCTTCTCAGAGGAGACAGACAGGGCCAGGTAACAGCCTGAACACGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGAGTGAATTGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGCATCTCAAAAATAAATAAATAAATAAATAAAAATAAAAATACAAATACAAAAATTAGTGGGGCGTGGTGGCAGACGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGTCACTGCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAAAAAAAGGCTTGGCACAGTGGCTCAAGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATCACGAGGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGTGTGGTTGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCACCACTGTACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGTAACCGGTAAATATCACTTCCTGTGGTGTGGCAGGGGTGAGGCTGAGCCAGGAAGGTTCAGAGGAGGGTGGGAAGAGGAGGGTGGGAAGAGGAGGGCTTCCTGGTAGGGCAGTGCCTGGTGGCAGAAAAGATCCAGGTATCTGGCCAGTGGCTGAGGGTGCAAACCAAGCAGAGACGTGGTTGCCAGGGCAGGCCCACACTGGGACCCTCCCTGGACAGTGTCCTTTGGCGGGAAATCTGGCCCAGGAGTAGAGGGAAGCTACCCACAGGCTGCTGGGGGTAGGCTGGTAGCAAGTGCTGTGCAGAGGCAGTCAGGTGCTTCCCACCCCACTTCTCTGCTCCCCTTGGGGTTGGGCTAGGGCTTGGTGGAGATTTTTGGGTGTTCTGGAGGAGCAGAGAGTGACCGACCTTTAGTCCATGTTCCATTTTCTCCCCAGGACTCAGACCTTGAAGCTCTTTCTAAGACC
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Task1_train_13343
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This variant affects the gene PRDM12 (PR/SET domain 12) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome
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TATTTTTTTTCTTTTTCTTTCTTTCTTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTTTCACTCTGTCACCCAGGCTGGAACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGGTCTGGAACTCCTGGGCTCAAATGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCGTGGTCAGCGGTCCTTATTTTTGGAGGATGAACCTGAGCTGGTGAGCTACTGTTTATTAAGTCCTTGCTCTGCAGCTGATGTTTTACAAACATTAATTTCTCTAGGCCGGGCATGGTGGCTTATGCCTATAATCCCAGTACTTTGGGAAGCAGAGACAGGAGGATCACTCGAGCCCAGGAGTTCCAGACCAGCCTGGTCAACATGGCAAGACCCCATCTCTACAAAAAATTTAAAAGTTAGCCAGGTGTGCTGGCACGAGCCTGTGGTCCTAGCTGCCTGGGAGGCTGAGGTGGGAGGATCGCTTGAACCCGGGAGGTCGAGGCTACAGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGTGTGACAGAGCCAGACCCTGTTTCAAAAAAATAAATAAAATCTTTTTGGCCGGGCGCTGTGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCTCGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATAGAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTATTCCCAGGGAAGCTGAGGCAGGAGAACCACTTGAACCCAGGAGGCGAAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGAGACAGAGGGAGACTCCGTCTAAAAAAAAAAAATATATATATATATATATATATATATTTTTTTTTTTTTTAACTGATCCTTACCATGTTAGTATTATCTCCATTTCAGGAAGGAGAAAACCGAGGCGCAGTTCCATGGTACAGAGTAGGCATTCAGTAAATGTTTGTGGGATGAGTTAATGAAAGGTTTGGGGGCAGGGGTCATCACAGTTGCTCCCCTTTACAGAAGGCTGCTCCAATCCAGGCACCTCTCAGGCACTGGCTAAGGCAGGTCGGGTGCTTAGCGCAGAGACCTTTCATAGACGTCTTTTCTCATCCTCTCGGGCAATCGTACGCCCGAAAAGGCAGTGCTAGCTTTCCATTTTACAGATGAGAAAGCTGAGGTTTAGCTAGGCTGAGTCGCTAAGTCCCCGAGGTCTCGCATCGCGATCGGGAGTCCAACTCCCTATTGGACCCCCCAGCCGGGGTACCCTTCGCTGTCCCTCCAGTCCGTCTGCCACCGTCCAAGCAGCACCCACCCTCAAGGACGGACCGGCCCCGGGCTGGGGGCGCTGAGGGCCCGGGCTGCGGGGCGCCGGTTCTAACGGGGCTGCTCTCTCCCCTTCTCCGTCTCCCTTCCCCCGCCCCGCCCCGCCCCGCGGCCAGAGGACTTCCACCCGGCGGACTCGGCGGCTGGCCCCGCGGGCCGCATGCGATGCGTCATCTGCCACCGCGGCTTCAACTCGCGCAGCAACCTGCGCTCGCACATGCGCATCCACACGCTGGACAAGCCCTTCGTGTGCCGCTTCTGCAACCGCCGCTTCAGCCAGTCGTCCACGCTGCGCAACCACGTGCGCCTGCACACGGGCGAGCGCCCCTACAAGTGCCAGGTGTGCCAGAGCGCCTACTCGCAGCTGGCCGGCCTGCGCGCCCACCAGAAGAGCGCGCGGCACCGGCCGCCCAGCACCGCGCTGCAGGCACACTCGCCCGCGCTGCCCGCCCCGCACGCGCACGCGCCCGCGCTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCACCACCTGCCGGCCATGGTGCTGTGAGCGCGCCCGCGCCCCCGCCGGGCCCCGCGCGCTCCTGGGTCCCCGGCACCCCGGCCCCGCAGCGCGACTCGCCCTCCAGCCCCAACCCCCGGCCCGGCGCCGCCGCGGAGCCCCGCGCGCTGGGGTTGCGCCCCGGAGGCGGATCTCAGGCACCCCCGCCTTGGCCCGTGTCGCAGATGAGGACACTGAGGGCGGCGTCCCTCACCCAGGCCACGCAGCTGGTGCGGCTGTTCGGCCGCCTCCTCTGGGAGGGGGTCCCCCTGCCTGGCCTCGCCCCCGAGTCTCCCTGCTGCTGTAGAGCCGGGCGCCCAGGCCGGCATCCCCCTCGTGGGTGGCAGGAGAGCGGACTTAGAGCCCCCGAGGGCCCCTCAGCAGAGGAAGGGGAGTCCCCTCCTCCGCCACCGAGAGTCCTGTGCTTCGGAATGAAGGGAGGGCGACCTCCTTGTCCGGGTGTGGTCGGGCGCGGGGGTTGTGGGGGCGCCATCTCCTCTTCCGGCCCCTGGGACTGGTGTCCTGAAGTGTCGGGAGTCCTTACGCAACCTTGACATGTGCGGGCTACTGGGGTCCATCGGCAGCGGGAAGAGACCCGGAGAGATGCATCTTCTGGGCCCTTCTCTCCTTTAGGCCAGCTTACCCCCAAACCTGGCTCCTGGGGACGGATGAGGAAGGAGCTCTTTGCAGTGCACCAGGCACGTTGAGAGTGGAGGCACAATGGAAATCCTCTGTGGGACCCCGAGCAAGACCCTGCACCTCTTTGGGCCTCAGTTTCCCCATCTGTAAAATGAAGGAGTTGGACCAATGCCCCCTCCCCTTCAGCTGTGACATCGTGCCTGGGAAGGCGAAATATACCCCCAGCCCCTTCCAACACACACACTCCAGCGAGAGGAGGGCAAGACTGGAACCGCTGCCCGAGAGGTTAAGGTGGCTTCTGTGGCCACGAAGCGCTTCCGAGCTGTGCCCAGTCCCGGGAATTCCGCCCAGTCTGCCCACACTTCCCTCGGTCCCTGCCCGTTTCCTCAAATTCGGGCCGTGCGCGCCCTCTGGTGTCGCCTCTCACACTTTGCAGTCATTTACCAGGATTCCCGTAGGGCGTTTTGTAAAATAAACTATAATATTAATGAAAAGTATAAAATGTATAGAGTTTTCAAGAAACTGCGTTCTACTTCCAGAAGATGGTCACTTTAACCTTGTAAATATTTATCTAAAATGATATTTACAAAACTGTAATATATTATTATTTGATTGTATATGTACAACTGTAAATACATTTGTACCTCTCTTGTATTCTAAAATAAAAATTACTTGGAACATTTATCATTTAGCATCTGAATGGGTGGACACTTTTATCTGTAGGAAGGAAATATAGAAAGTGTCTAGAAGCTGGAAAGGGGCGGGTAAGCGTTGTTCCACTTACTGGTGTGTACAGGAAAATTCTCTCTGTCACAACTGGGATGTCAGAGCTCAGTGAGATGGGCCACAGTGCAAAGCAACCGGAAATCTTGAAAGGGGCCAGGCAGATTTCTCCCGGTTTCCAGCTGGCTCAAACATCAGTGCCTTATTTTGTAACTTCTCCCAAATATTTACTTTTTTTTTTTTTTTTCATTTTAATGGCCAACTCAAAGGAGTTCAAGCAGCCAGTGGGAATGGGCCAAAATGGCCACCAAGTGCCCTCCCAATGCCTAGACTCTCCAAATGTTCTGGGCACCCATTTCCAGACCCTCTTGAAGA
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TATTTTTTTTCTTTTTCTTTCTTTCTTCCTTTTTTTTTTTTTTTTTTTTGAGACTGAGTTTCACTCTGTCACCCAGGCTGGAACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGGTCTGGAACTCCTGGGCTCAAATGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCGTGGTCAGCGGTCCTTATTTTTGGAGGATGAACCTGAGCTGGTGAGCTACTGTTTATTAAGTCCTTGCTCTGCAGCTGATGTTTTACAAACATTAATTTCTCTAGGCCGGGCATGGTGGCTTATGCCTATAATCCCAGTACTTTGGGAAGCAGAGACAGGAGGATCACTCGAGCCCAGGAGTTCCAGACCAGCCTGGTCAACATGGCAAGACCCCATCTCTACAAAAAATTTAAAAGTTAGCCAGGTGTGCTGGCACGAGCCTGTGGTCCTAGCTGCCTGGGAGGCTGAGGTGGGAGGATCGCTTGAACCCGGGAGGTCGAGGCTACAGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGTGTGACAGAGCCAGACCCTGTTTCAAAAAAATAAATAAAATCTTTTTGGCCGGGCGCTGTGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCTCGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATAGAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTATTCCCAGGGAAGCTGAGGCAGGAGAACCACTTGAACCCAGGAGGCGAAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGAGACAGAGGGAGACTCCGTCTAAAAAAAAAAAATATATATATATATATATATATATATTTTTTTTTTTTTTAACTGATCCTTACCATGTTAGTATTATCTCCATTTCAGGAAGGAGAAAACCGAGGCGCAGTTCCATGGTACAGAGTAGGCATTCAGTAAATGTTTGTGGGATGAGTTAATGAAAGGTTTGGGGGCAGGGGTCATCACAGTTGCTCCCCTTTACAGAAGGCTGCTCCAATCCAGGCACCTCTCAGGCACTGGCTAAGGCAGGTCGGGTGCTTAGCGCAGAGACCTTTCATAGACGTCTTTTCTCATCCTCTCGGGCAATCGTACGCCCGAAAAGGCAGTGCTAGCTTTCCATTTTACAGATGAGAAAGCTGAGGTTTAGCTAGGCTGAGTCGCTAAGTCCCCGAGGTCTCGCATCGCGATCGGGAGTCCAACTCCCTATTGGACCCCCCAGCCGGGGTACCCTTCGCTGTCCCTCCAGTCCGTCTGCCACCGTCCAAGCAGCACCCACCCTCAAGGACGGACCGGCCCCGGGCTGGGGGCGCTGAGGGCCCGGGCTGCGGGGCGCCGGTTCTAACGGGGCTGCTCTCTCCCCTTCTCCGTCTCCCTTCCCCCGCCCCGCCCCGCCCCGCGGCCAGAGGACTTCCACCCGGCGGACTCGGCGGCTGGCCCCGCGGGCCGCATGCGATGCGTCATCTGCCACCGCGGCTTCAACTCGCGCAGCAACCTGCGCTCGCACAGGCGCATCCACACGCTGGACAAGCCCTTCGTGTGCCGCTTCTGCAACCGCCGCTTCAGCCAGTCGTCCACGCTGCGCAACCACGTGCGCCTGCACACGGGCGAGCGCCCCTACAAGTGCCAGGTGTGCCAGAGCGCCTACTCGCAGCTGGCCGGCCTGCGCGCCCACCAGAAGAGCGCGCGGCACCGGCCGCCCAGCACCGCGCTGCAGGCACACTCGCCCGCGCTGCCCGCCCCGCACGCGCACGCGCCCGCGCTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCACCACCTGCCGGCCATGGTGCTGTGAGCGCGCCCGCGCCCCCGCCGGGCCCCGCGCGCTCCTGGGTCCCCGGCACCCCGGCCCCGCAGCGCGACTCGCCCTCCAGCCCCAACCCCCGGCCCGGCGCCGCCGCGGAGCCCCGCGCGCTGGGGTTGCGCCCCGGAGGCGGATCTCAGGCACCCCCGCCTTGGCCCGTGTCGCAGATGAGGACACTGAGGGCGGCGTCCCTCACCCAGGCCACGCAGCTGGTGCGGCTGTTCGGCCGCCTCCTCTGGGAGGGGGTCCCCCTGCCTGGCCTCGCCCCCGAGTCTCCCTGCTGCTGTAGAGCCGGGCGCCCAGGCCGGCATCCCCCTCGTGGGTGGCAGGAGAGCGGACTTAGAGCCCCCGAGGGCCCCTCAGCAGAGGAAGGGGAGTCCCCTCCTCCGCCACCGAGAGTCCTGTGCTTCGGAATGAAGGGAGGGCGACCTCCTTGTCCGGGTGTGGTCGGGCGCGGGGGTTGTGGGGGCGCCATCTCCTCTTCCGGCCCCTGGGACTGGTGTCCTGAAGTGTCGGGAGTCCTTACGCAACCTTGACATGTGCGGGCTACTGGGGTCCATCGGCAGCGGGAAGAGACCCGGAGAGATGCATCTTCTGGGCCCTTCTCTCCTTTAGGCCAGCTTACCCCCAAACCTGGCTCCTGGGGACGGATGAGGAAGGAGCTCTTTGCAGTGCACCAGGCACGTTGAGAGTGGAGGCACAATGGAAATCCTCTGTGGGACCCCGAGCAAGACCCTGCACCTCTTTGGGCCTCAGTTTCCCCATCTGTAAAATGAAGGAGTTGGACCAATGCCCCCTCCCCTTCAGCTGTGACATCGTGCCTGGGAAGGCGAAATATACCCCCAGCCCCTTCCAACACACACACTCCAGCGAGAGGAGGGCAAGACTGGAACCGCTGCCCGAGAGGTTAAGGTGGCTTCTGTGGCCACGAAGCGCTTCCGAGCTGTGCCCAGTCCCGGGAATTCCGCCCAGTCTGCCCACACTTCCCTCGGTCCCTGCCCGTTTCCTCAAATTCGGGCCGTGCGCGCCCTCTGGTGTCGCCTCTCACACTTTGCAGTCATTTACCAGGATTCCCGTAGGGCGTTTTGTAAAATAAACTATAATATTAATGAAAAGTATAAAATGTATAGAGTTTTCAAGAAACTGCGTTCTACTTCCAGAAGATGGTCACTTTAACCTTGTAAATATTTATCTAAAATGATATTTACAAAACTGTAATATATTATTATTTGATTGTATATGTACAACTGTAAATACATTTGTACCTCTCTTGTATTCTAAAATAAAAATTACTTGGAACATTTATCATTTAGCATCTGAATGGGTGGACACTTTTATCTGTAGGAAGGAAATATAGAAAGTGTCTAGAAGCTGGAAAGGGGCGGGTAAGCGTTGTTCCACTTACTGGTGTGTACAGGAAAATTCTCTCTGTCACAACTGGGATGTCAGAGCTCAGTGAGATGGGCCACAGTGCAAAGCAACCGGAAATCTTGAAAGGGGCCAGGCAGATTTCTCCCGGTTTCCAGCTGGCTCAAACATCAGTGCCTTATTTTGTAACTTCTCCCAAATATTTACTTTTTTTTTTTTTTTTCATTTTAATGGCCAACTCAAAGGAGTTCAAGCAGCCAGTGGGAATGGGCCAAAATGGCCACCAAGTGCCCTCCCAATGCCTAGACTCTCCAAATGTTCTGGGCACCCATTTCCAGACCCTCTTGAAGA
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Task1_train_13344
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Given this variant in gene PRDM12 (PR/SET domain 12) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Congenital insensitivity to pain-hypohidrosis syndrome
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AACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGGTCTGGAACTCCTGGGCTCAAATGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCGTGGTCAGCGGTCCTTATTTTTGGAGGATGAACCTGAGCTGGTGAGCTACTGTTTATTAAGTCCTTGCTCTGCAGCTGATGTTTTACAAACATTAATTTCTCTAGGCCGGGCATGGTGGCTTATGCCTATAATCCCAGTACTTTGGGAAGCAGAGACAGGAGGATCACTCGAGCCCAGGAGTTCCAGACCAGCCTGGTCAACATGGCAAGACCCCATCTCTACAAAAAATTTAAAAGTTAGCCAGGTGTGCTGGCACGAGCCTGTGGTCCTAGCTGCCTGGGAGGCTGAGGTGGGAGGATCGCTTGAACCCGGGAGGTCGAGGCTACAGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGTGTGACAGAGCCAGACCCTGTTTCAAAAAAATAAATAAAATCTTTTTGGCCGGGCGCTGTGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCTCGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATAGAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTATTCCCAGGGAAGCTGAGGCAGGAGAACCACTTGAACCCAGGAGGCGAAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGAGACAGAGGGAGACTCCGTCTAAAAAAAAAAAATATATATATATATATATATATATATTTTTTTTTTTTTTAACTGATCCTTACCATGTTAGTATTATCTCCATTTCAGGAAGGAGAAAACCGAGGCGCAGTTCCATGGTACAGAGTAGGCATTCAGTAAATGTTTGTGGGATGAGTTAATGAAAGGTTTGGGGGCAGGGGTCATCACAGTTGCTCCCCTTTACAGAAGGCTGCTCCAATCCAGGCACCTCTCAGGCACTGGCTAAGGCAGGTCGGGTGCTTAGCGCAGAGACCTTTCATAGACGTCTTTTCTCATCCTCTCGGGCAATCGTACGCCCGAAAAGGCAGTGCTAGCTTTCCATTTTACAGATGAGAAAGCTGAGGTTTAGCTAGGCTGAGTCGCTAAGTCCCCGAGGTCTCGCATCGCGATCGGGAGTCCAACTCCCTATTGGACCCCCCAGCCGGGGTACCCTTCGCTGTCCCTCCAGTCCGTCTGCCACCGTCCAAGCAGCACCCACCCTCAAGGACGGACCGGCCCCGGGCTGGGGGCGCTGAGGGCCCGGGCTGCGGGGCGCCGGTTCTAACGGGGCTGCTCTCTCCCCTTCTCCGTCTCCCTTCCCCCGCCCCGCCCCGCCCCGCGGCCAGAGGACTTCCACCCGGCGGACTCGGCGGCTGGCCCCGCGGGCCGCATGCGATGCGTCATCTGCCACCGCGGCTTCAACTCGCGCAGCAACCTGCGCTCGCACATGCGCATCCACACGCTGGACAAGCCCTTCGTGTGCCGCTTCTGCAACCGCCGCTTCAGCCAGTCGTCCACGCTGCGCAACCACGTGCGCCTGCACACGGGCGAGCGCCCCTACAAGTGCCAGGTGTGCCAGAGCGCCTACTCGCAGCTGGCCGGCCTGCGCGCCCACCAGAAGAGCGCGCGGCACCGGCCGCCCAGCACCGCGCTGCAGGCACACTCGCCCGCGCTGCCCGCCCCGCACGCGCACGCGCCCGCGCTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCACCACCTGCCGGCCATGGTGCTGTGAGCGCGCCCGCGCCCCCGCCGGGCCCCGCGCGCTCCTGGGTCCCCGGCACCCCGGCCCCGCAGCGCGACTCGCCCTCCAGCCCCAACCCCCGGCCCGGCGCCGCCGCGGAGCCCCGCGCGCTGGGGTTGCGCCCCGGAGGCGGATCTCAGGCACCCCCGCCTTGGCCCGTGTCGCAGATGAGGACACTGAGGGCGGCGTCCCTCACCCAGGCCACGCAGCTGGTGCGGCTGTTCGGCCGCCTCCTCTGGGAGGGGGTCCCCCTGCCTGGCCTCGCCCCCGAGTCTCCCTGCTGCTGTAGAGCCGGGCGCCCAGGCCGGCATCCCCCTCGTGGGTGGCAGGAGAGCGGACTTAGAGCCCCCGAGGGCCCCTCAGCAGAGGAAGGGGAGTCCCCTCCTCCGCCACCGAGAGTCCTGTGCTTCGGAATGAAGGGAGGGCGACCTCCTTGTCCGGGTGTGGTCGGGCGCGGGGGTTGTGGGGGCGCCATCTCCTCTTCCGGCCCCTGGGACTGGTGTCCTGAAGTGTCGGGAGTCCTTACGCAACCTTGACATGTGCGGGCTACTGGGGTCCATCGGCAGCGGGAAGAGACCCGGAGAGATGCATCTTCTGGGCCCTTCTCTCCTTTAGGCCAGCTTACCCCCAAACCTGGCTCCTGGGGACGGATGAGGAAGGAGCTCTTTGCAGTGCACCAGGCACGTTGAGAGTGGAGGCACAATGGAAATCCTCTGTGGGACCCCGAGCAAGACCCTGCACCTCTTTGGGCCTCAGTTTCCCCATCTGTAAAATGAAGGAGTTGGACCAATGCCCCCTCCCCTTCAGCTGTGACATCGTGCCTGGGAAGGCGAAATATACCCCCAGCCCCTTCCAACACACACACTCCAGCGAGAGGAGGGCAAGACTGGAACCGCTGCCCGAGAGGTTAAGGTGGCTTCTGTGGCCACGAAGCGCTTCCGAGCTGTGCCCAGTCCCGGGAATTCCGCCCAGTCTGCCCACACTTCCCTCGGTCCCTGCCCGTTTCCTCAAATTCGGGCCGTGCGCGCCCTCTGGTGTCGCCTCTCACACTTTGCAGTCATTTACCAGGATTCCCGTAGGGCGTTTTGTAAAATAAACTATAATATTAATGAAAAGTATAAAATGTATAGAGTTTTCAAGAAACTGCGTTCTACTTCCAGAAGATGGTCACTTTAACCTTGTAAATATTTATCTAAAATGATATTTACAAAACTGTAATATATTATTATTTGATTGTATATGTACAACTGTAAATACATTTGTACCTCTCTTGTATTCTAAAATAAAAATTACTTGGAACATTTATCATTTAGCATCTGAATGGGTGGACACTTTTATCTGTAGGAAGGAAATATAGAAAGTGTCTAGAAGCTGGAAAGGGGCGGGTAAGCGTTGTTCCACTTACTGGTGTGTACAGGAAAATTCTCTCTGTCACAACTGGGATGTCAGAGCTCAGTGAGATGGGCCACAGTGCAAAGCAACCGGAAATCTTGAAAGGGGCCAGGCAGATTTCTCCCGGTTTCCAGCTGGCTCAAACATCAGTGCCTTATTTTGTAACTTCTCCCAAATATTTACTTTTTTTTTTTTTTTTCATTTTAATGGCCAACTCAAAGGAGTTCAAGCAGCCAGTGGGAATGGGCCAAAATGGCCACCAAGTGCCCTCCCAATGCCTAGACTCTCCAAATGTTCTGGGCACCCATTTCCAGACCCTCTTGAAGAAGACCAGGGAGCAGGAAGACCTCTAGTTAAAGCCAGAGGGCTTCATGGTTCCTATAGGGCCAGTCTCACCTCTCCTCTCCA
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AACGCAGTGGCGTGATCTTGGCTCATTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGCGTGTGCCACCATGCCCAGCTAATCTTTGCATTTGTAGTAGAGATGGGGTTTTGTTATGTTGGCCAAGCTAGTCTCAAACTCCTGACCTCAAGCGATCTGCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTAAGCCACGGCACCTGGCCTGTGAAATTTGGTTATCCATATTTTTATTTTATTTAACTTATTTTTGAGACAGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTATCTTGGTTCACTACAGCCTCAACCACCTGGGCTCAAGCTATCCTCCCATCTCAGCCTCCCAGGTAGCTGGGACCACAGTCGTGCACCACCACACCTGGCTAATTTTTTAAATTTATTGTAGAGATGGGGTCTCGCCATGTTGCCCAGCTGGTCTGGAACTCCTGGGCTCAAATGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGGCACCGTGGTCAGCGGTCCTTATTTTTGGAGGATGAACCTGAGCTGGTGAGCTACTGTTTATTAAGTCCTTGCTCTGCAGCTGATGTTTTACAAACATTAATTTCTCTAGGCCGGGCATGGTGGCTTATGCCTATAATCCCAGTACTTTGGGAAGCAGAGACAGGAGGATCACTCGAGCCCAGGAGTTCCAGACCAGCCTGGTCAACATGGCAAGACCCCATCTCTACAAAAAATTTAAAAGTTAGCCAGGTGTGCTGGCACGAGCCTGTGGTCCTAGCTGCCTGGGAGGCTGAGGTGGGAGGATCGCTTGAACCCGGGAGGTCGAGGCTACAGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGTGTGACAGAGCCAGACCCTGTTTCAAAAAAATAAATAAAATCTTTTTGGCCGGGCGCTGTGGCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCTCGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATAGAAAAATTAGCTGGGCGTGGTGGTGCACACCTGTATTCCCAGGGAAGCTGAGGCAGGAGAACCACTTGAACCCAGGAGGCGAAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGAGACAGAGGGAGACTCCGTCTAAAAAAAAAAAATATATATATATATATATATATATATTTTTTTTTTTTTTAACTGATCCTTACCATGTTAGTATTATCTCCATTTCAGGAAGGAGAAAACCGAGGCGCAGTTCCATGGTACAGAGTAGGCATTCAGTAAATGTTTGTGGGATGAGTTAATGAAAGGTTTGGGGGCAGGGGTCATCACAGTTGCTCCCCTTTACAGAAGGCTGCTCCAATCCAGGCACCTCTCAGGCACTGGCTAAGGCAGGTCGGGTGCTTAGCGCAGAGACCTTTCATAGACGTCTTTTCTCATCCTCTCGGGCAATCGTACGCCCGAAAAGGCAGTGCTAGCTTTCCATTTTACAGATGAGAAAGCTGAGGTTTAGCTAGGCTGAGTCGCTAAGTCCCCGAGGTCTCGCATCGCGATCGGGAGTCCAACTCCCTATTGGACCCCCCAGCCGGGGTACCCTTCGCTGTCCCTCCAGTCCGTCTGCCACCGTCCAAGCAGCACCCACCCTCAAGGACGGACCGGCCCCGGGCTGGGGGCGCTGAGGGCCCGGGCTGCGGGGCGCCGGTTCTAACGGGGCTGCTCTCTCCCCTTCTCCGTCTCCCTTCCCCCGCCCCGCCCCGCCCCGCGGCCAGAGGACTTCCACCCGGCGGACTCGGCGGCTGGCCCCGCGGGCCGCATGCGATGCGTCATCTGCCACCGCGGCTTCAACTCGCGCAGCAACCTGCGCTCGCACATGCGCATCCACACGCTGGACAAGCCCTTCGTGTGCCGCTTCTGCAACCGCCGCTTCAGCCAGTCGTCCACGCTGCGCAACCTCGTGCGCCTGCACACGGGCGAGCGCCCCTACAAGTGCCAGGTGTGCCAGAGCGCCTACTCGCAGCTGGCCGGCCTGCGCGCCCACCAGAAGAGCGCGCGGCACCGGCCGCCCAGCACCGCGCTGCAGGCACACTCGCCCGCGCTGCCCGCCCCGCACGCGCACGCGCCCGCGCTCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCGCACCACCTGCCGGCCATGGTGCTGTGAGCGCGCCCGCGCCCCCGCCGGGCCCCGCGCGCTCCTGGGTCCCCGGCACCCCGGCCCCGCAGCGCGACTCGCCCTCCAGCCCCAACCCCCGGCCCGGCGCCGCCGCGGAGCCCCGCGCGCTGGGGTTGCGCCCCGGAGGCGGATCTCAGGCACCCCCGCCTTGGCCCGTGTCGCAGATGAGGACACTGAGGGCGGCGTCCCTCACCCAGGCCACGCAGCTGGTGCGGCTGTTCGGCCGCCTCCTCTGGGAGGGGGTCCCCCTGCCTGGCCTCGCCCCCGAGTCTCCCTGCTGCTGTAGAGCCGGGCGCCCAGGCCGGCATCCCCCTCGTGGGTGGCAGGAGAGCGGACTTAGAGCCCCCGAGGGCCCCTCAGCAGAGGAAGGGGAGTCCCCTCCTCCGCCACCGAGAGTCCTGTGCTTCGGAATGAAGGGAGGGCGACCTCCTTGTCCGGGTGTGGTCGGGCGCGGGGGTTGTGGGGGCGCCATCTCCTCTTCCGGCCCCTGGGACTGGTGTCCTGAAGTGTCGGGAGTCCTTACGCAACCTTGACATGTGCGGGCTACTGGGGTCCATCGGCAGCGGGAAGAGACCCGGAGAGATGCATCTTCTGGGCCCTTCTCTCCTTTAGGCCAGCTTACCCCCAAACCTGGCTCCTGGGGACGGATGAGGAAGGAGCTCTTTGCAGTGCACCAGGCACGTTGAGAGTGGAGGCACAATGGAAATCCTCTGTGGGACCCCGAGCAAGACCCTGCACCTCTTTGGGCCTCAGTTTCCCCATCTGTAAAATGAAGGAGTTGGACCAATGCCCCCTCCCCTTCAGCTGTGACATCGTGCCTGGGAAGGCGAAATATACCCCCAGCCCCTTCCAACACACACACTCCAGCGAGAGGAGGGCAAGACTGGAACCGCTGCCCGAGAGGTTAAGGTGGCTTCTGTGGCCACGAAGCGCTTCCGAGCTGTGCCCAGTCCCGGGAATTCCGCCCAGTCTGCCCACACTTCCCTCGGTCCCTGCCCGTTTCCTCAAATTCGGGCCGTGCGCGCCCTCTGGTGTCGCCTCTCACACTTTGCAGTCATTTACCAGGATTCCCGTAGGGCGTTTTGTAAAATAAACTATAATATTAATGAAAAGTATAAAATGTATAGAGTTTTCAAGAAACTGCGTTCTACTTCCAGAAGATGGTCACTTTAACCTTGTAAATATTTATCTAAAATGATATTTACAAAACTGTAATATATTATTATTTGATTGTATATGTACAACTGTAAATACATTTGTACCTCTCTTGTATTCTAAAATAAAAATTACTTGGAACATTTATCATTTAGCATCTGAATGGGTGGACACTTTTATCTGTAGGAAGGAAATATAGAAAGTGTCTAGAAGCTGGAAAGGGGCGGGTAAGCGTTGTTCCACTTACTGGTGTGTACAGGAAAATTCTCTCTGTCACAACTGGGATGTCAGAGCTCAGTGAGATGGGCCACAGTGCAAAGCAACCGGAAATCTTGAAAGGGGCCAGGCAGATTTCTCCCGGTTTCCAGCTGGCTCAAACATCAGTGCCTTATTTTGTAACTTCTCCCAAATATTTACTTTTTTTTTTTTTTTTCATTTTAATGGCCAACTCAAAGGAGTTCAAGCAGCCAGTGGGAATGGGCCAAAATGGCCACCAAGTGCCCTCCCAATGCCTAGACTCTCCAAATGTTCTGGGCACCCATTTCCAGACCCTCTTGAAGAAGACCAGGGAGCAGGAAGACCTCTAGTTAAAGCCAGAGGGCTTCATGGTTCCTATAGGGCCAGTCTCACCTCTCCTCTCCA
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Task1_train_13345
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This is a variant in EXOSC2 (exosome component 2), located on Chromosome 9. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CTAATTTTTGTATTTTTAGTAGAGACAGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCATGCCTGGCCTCTGTCTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGGGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACTATGCCCGACTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCGACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTCTGTCTGTATTTTTAAAAAAAAGATATTCATGACAACCAAGGGGAGAGGTAAGGTCACAGTGATGTGCTCTGGGTCAAAGATTGTTGAGCCTGGACCATTGGAGAGGGGAGGAAAAGATGGAGGTGTGGGGTCAAGGGGAGAGGCTGCAGAGGACAGGACAGTGTGTGGCCAAGGCTGCTGTTTGTTCCTTCATCACCCTGGCCAGGCTGAGGTCCAGGCAGTGTTCTCTGACGGAGCTGTCTCTTTGCACACGAGGAGCCTGAAATATGGAAAAGTAAGTCGGGCTCTTGATGTTCCTGTTTGCTGACTGAGACTACAAGGCTATTTTTGAATCCCCATAGCTCTCTGGAATTCTGGCCTAAAGAACCCCAGTAGCTAAGCATTAATAGAGGCTGGCATCCCACAAACTGATCGTGTTCCTTAAACGTAACATCAGGACGGTCAGGGTTCACAGGGTCATGGGTCAGTAGCCTTGTAAAGAACAAGTTTTATCCTTTTTCTCCAAGGAGACTGACTTTCACCAGAAGAGCCCCTCCAACTGTGGGCTGGGAGGTGCAGCTGTCTCTCTTCCTCCAGGGGGCGCTGCAGCTCAGCACTGGGGCTGAGGCTGTCCTGGGAACAAAGGCAGGCTGGGTCTGGTTAAACAGCCCTTAGACAAACGTCCAATCAGTCCAGTGGATGTTATTGCTGGCAAAGCTTGCTCTGTCATCTGAGCCTCTAAATGGAATTTCACTGCTTTTCTTGTACGAGGTTGCATTATTGAAGCTATTTACTATTTTAAGGAGAGCATACTTCCTAAAACAAATTAGGATTTACTAGTCTCTTAGCTTTATCTGGGTGAACGTTTTTATTTTCTGAGTGGAACAAAAACCTCTTCCCTTAATGGAGTGGCTGCAGACAGCCACGTTGATGTACATGGAGTAGGCAGAGGACTGCTGCAGTATGCTGACTTTCACAACCCTGGGTCCTGCGGACTCTTCCTTGGCAGGACGTGGACTTGAGCTGTCCTGCCAGGACCAGACATGGATTTGCACCCAGCTCCACCCATCTCCTTACCTACCCAGAGGCACACATCTCACAGGCAAGATGAGTGTTTGGGGTTCAGGTATGAGCTAGGGTCATGGAACAACGCAGTGCTCCTGGGCCAGCAGGAGGCTCCAGCTCACTTCCTCATTGGCTTCAGCTTCTCTAATGTCTGGCACATGAGTTCTGGCTTAGAGTGCAAGGAAGACTGCAAAGGGAAATGACAGAGAAGAGTATTGAAGGTCACCTTCTGCTGGGATGTATGAATAGCCTCTGAGTCCCAAAGCGTTCTCTGCAAAAATGTGTACTATGTGTATGCATGTAGGCGACAGCAATTATAAACAGGAAGGACACCAATTTGAATATACTTAGGATGTATATTCTGTAGTCTCCTTTTCATTCATCCCGCCAATCTTGCAGTGACCTAGCTTCGTGATATATTTCTTTAGCTAGGTCAGGGGGTTTTGGTCCAGGTTTCCCCCTCCCTGGTGAAACGGCAGAAGACCCACTTTCATGATTTGCCATGTGGTGCCTCAGTGATTCTCGGTAACAACGGCTTCATCTGGATTTACCCAACACCTGAGCACAAAGAAGAGGAAGCAGGGGGCTTCATTGCAAACCTGGAGGTGAGCAAACACTGTGGCCATTTTCAGTGGGATGGAGGGGGCTCAGTCTTTGCTGTGTTTTTGTGGCCAGTGAAGTTGGTTGTTTTTAGCTATGTTACTGGTGTAGGCTGAGTCACTTTGACTTTCCATCACGGTATGTTCATGAAGCCCATATTATCTTCTCTTCTAAGGAGATGAATTCAGTGAATGGTTTGGTGTTTGTTGGTGGAGGTGGCAAAGTTGCAGGGTAATAGCCGAAGAGCCAGTGAAGAAGCCATTCTTTTTCTGTTTTTTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCCCCACCATGCTCTGCTAATTTATCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAATTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGACACTGCACCCTGCCCCATTCCTTTTAATCTCCCTTGGAATTAGCTGTTTGGTTGATTTGGAGTTCCAGGGTGATACTGTCTGAGTCATAAATGATTTATTTGTGAATTTCTGTGGCTGGTCACGTATTTTGGTCCTGTTTGTATTTCCCTTCCCCTCTCTGTGTCTCCTTATAGCCTGTCTCTCTTGCTGATCGAGAGGTGATATCCCGGCTTCGGAACTGCATCATCTCGCTGGTAACTCAGAGGATGATGCTGTATGATACCAGCATCCTGTACTGCTATGAAGCATCCCTTCCACATCAGGTACTCTCCCCAGGGCCTCTCCCTTCTTCACTGATCTGTGAGCTGCTCTGTTGTTTGTTCAGAGACAATATGCACATCTCCCCAATACTTTCCCAACATCCGTCAGTATGAACTGGCCTGAAACAGCCTTAATGAGTGTCTGGTAGATCTTTCCCTAAGAAACTTGCAATATTCTCAATGCCTAGTGTCAGTCTAAGGATTTTGGGGCAGGAGGTGTCAGGTGGGACTAGTTTATGAGAGCAACCTCTGGACTACATCTTACCTCTCCCAAATTTCAGCCAGCTTTTGGATGAATGTCAGAATAATATCTTTGTTCTTGTCGACTATATCCCAGAGCATCTTGCTGATTTATTAGGCTGCTTCTAGCAGATCATATCTTGTAACGCTTAGTCTCTGAGACATGAAAGGAATACAGAAAGTTTATGTTAACGGCTTGATTTATGTTTGGATTGGCTTGGTGGTCTGTTTATGGTTGGTTTCTTTTCTGAACAAATGCCTTTTCCCTTTTTCAGATCAAAGACATCTTAAAGCCAGAAATAATGGAGGAGATTGTGATGGAAACACGCCAGAGGCTTTTGGAACAGGAGGGATAAGGAGGTGCTCCAGAAGCACGGGACTGTGGACCTTGCAGGAGTGAAGACTGTGATGTGTGGTCCCCATATGTGGCTCAGCAAAGACTCGAGAGATCATCCCTTTGTCTGCATTGACGGCCCTGTGACGGCCTCCAGCCCACAGGCCTGCTTTCTCCTGTCCTAACACCAAGCCTGGGTGGCAGATGAACAGTGCTTCCTTGGGTTGCCAGCTGAGTCCCGGTATTAGGGAATAGTTTCAGCTCTTTCAAAGTGCACAGTGTTACAGTCGAATGGGCTCCCATCCTGGAATAATATGGAGAATCCTTTGTCTTCCACTCACTGTCATTCACAAGGCACAGTGCCCCATGAAATTGCCCCAATAGAAAACATGGCATCCCTGACCTCCAAATGGTCTGTTTTGGCCTCCATTCCTATATCCTTTAAATGACTGAGAATGCAGCTGGTAAAGTTGGAAGAATAAAGTTAACCAAGCAGGCCAGGCACGGTGGCTCACGCCTATAATCC
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CTAATTTTTGTATTTTTAGTAGAGACAGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCATGCCTGGCCTCTGTCTTTATTTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGGGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACTATGCCCGACTAATTTTGTACTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCGACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTTCTGTCTGTATTTTTAAAAAAAAGATATTCATGACAACCAAGGGGAGAGGTAAGGTCACAGTGATGTGCTCTGGGTCAAAGATTGTTGAGCCTGGACCATTGGAGAGGGGAGGAAAAGATGGAGGTGTGGGGTCAAGGGGAGAGGCTGCAGAGGACAGGACAGTGTGTGGCCAAGGCTGCTGTTTGTTCCTTCATCACCCTGGCCAGGCTGAGGTCCAGGCAGTGTTCTCTGACGGAGCTGTCTCTTTGCACACGAGGAGCCTGAAATATGGAAAAGTAAGTCGGGCTCTTGATGTTCCTGTTTGCTGACTGAGACTACAAGGCTATTTTTGAATCCCCATAGCTCTCTGGAATTCTGGCCTAAAGAACCCCAGTAGCTAAGCATTAATAGAGGCTGGCATCCCACAAACTGATCGTGTTCCTTAAACGTAACATCAGGACGGTCAGGGTTCACAGGGTCATGGGTCAGTAGCCTTGTAAAGAACAAGTTTTATCCTTTTTCTCCAAGGAGACTGACTTTCACCAGAAGAGCCCCTCCAACTGTGGGCTGGGAGGTGCAGCTGTCTCTCTTCCTCCAGGGGGCGCTGCAGCTCAGCACTGGGGCTGAGGCTGTCCTGGGAACAAAGGCAGGCTGGGTCTGGTTAAACAGCCCTTAGACAAACGTCCAATCAGTCCAGTGGATGTTATTGCTGGCAAAGCTTGCTCTGTCATCTGAGCCTCTAAATGGAATTTCACTGCTTTTCTTGTACGAGGTTGCATTATTGAAGCTATTTACTATTTTAAGGAGAGCATACTTCCTAAAACAAATTAGGATTTACTAGTCTCTTAGCTTTATCTGGGTGAACGTTTTTATTTTCTGAGTGGAACAAAAACCTCTTCCCTTAATGGAGTGGCTGCAGACAGCCACGTTGATGTACATGGAGTAGGCAGAGGACTGCTGCAGTATGCTGACTTTCACAACCCTGGGTCCTGCGGACTCTTCCTTGGCAGGACGTGGACTTGAGCTGTCCTGCCAGGACCAGACATGGATTTGCACCCAGCTCCACCCATCTCCTTACCTACCCAGAGGCACACATCTCACAGGCAAGATGAGTGTTTGGGGTTCAGGTATGAGCTAGGGTCATGGAACAACGCAGTGCTCCTGGGCCAGCAGGAGGCTCCAGCTCACTTCCTCATTGGCTTCAGCTTCTCTAATGTCTGGCACATGAGTTCTGGCTTAGAGTGCAAGGAAGACTGCAAAGGGAAATGACAGAGAAGAGTATTGAAGGTCACCTTCTGCTGGGATGTATGAATAGCCTCTGAGTCCCAAAGCGTTCTCTGCAAAAATGTGTACTATGTGTATGCATGTAGGCGACAGCAATTATAAACAGGAAGGACACCAATTTGAATATACTTAGGATGTATATTCTGTAGTCTCCTTTTCATTCATCCCGCCAATCTTGCAGTGACCTAGCTTCGTGATATATTTCTTTAGCTAGGTCAGGGGGTTTTGGTCCAGGTTTCCCCCTCCCTGGTGAAACGGCAGAAGACCCACTTTCATGATTTGCCATGTGGTGCCTCAGTGATTCTCGATAACAACGGCTTCATCTGGATTTACCCAACACCTGAGCACAAAGAAGAGGAAGCAGGGGGCTTCATTGCAAACCTGGAGGTGAGCAAACACTGTGGCCATTTTCAGTGGGATGGAGGGGGCTCAGTCTTTGCTGTGTTTTTGTGGCCAGTGAAGTTGGTTGTTTTTAGCTATGTTACTGGTGTAGGCTGAGTCACTTTGACTTTCCATCACGGTATGTTCATGAAGCCCATATTATCTTCTCTTCTAAGGAGATGAATTCAGTGAATGGTTTGGTGTTTGTTGGTGGAGGTGGCAAAGTTGCAGGGTAATAGCCGAAGAGCCAGTGAAGAAGCCATTCTTTTTCTGTTTTTTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCCCCACCATGCTCTGCTAATTTATCTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAATTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGACACTGCACCCTGCCCCATTCCTTTTAATCTCCCTTGGAATTAGCTGTTTGGTTGATTTGGAGTTCCAGGGTGATACTGTCTGAGTCATAAATGATTTATTTGTGAATTTCTGTGGCTGGTCACGTATTTTGGTCCTGTTTGTATTTCCCTTCCCCTCTCTGTGTCTCCTTATAGCCTGTCTCTCTTGCTGATCGAGAGGTGATATCCCGGCTTCGGAACTGCATCATCTCGCTGGTAACTCAGAGGATGATGCTGTATGATACCAGCATCCTGTACTGCTATGAAGCATCCCTTCCACATCAGGTACTCTCCCCAGGGCCTCTCCCTTCTTCACTGATCTGTGAGCTGCTCTGTTGTTTGTTCAGAGACAATATGCACATCTCCCCAATACTTTCCCAACATCCGTCAGTATGAACTGGCCTGAAACAGCCTTAATGAGTGTCTGGTAGATCTTTCCCTAAGAAACTTGCAATATTCTCAATGCCTAGTGTCAGTCTAAGGATTTTGGGGCAGGAGGTGTCAGGTGGGACTAGTTTATGAGAGCAACCTCTGGACTACATCTTACCTCTCCCAAATTTCAGCCAGCTTTTGGATGAATGTCAGAATAATATCTTTGTTCTTGTCGACTATATCCCAGAGCATCTTGCTGATTTATTAGGCTGCTTCTAGCAGATCATATCTTGTAACGCTTAGTCTCTGAGACATGAAAGGAATACAGAAAGTTTATGTTAACGGCTTGATTTATGTTTGGATTGGCTTGGTGGTCTGTTTATGGTTGGTTTCTTTTCTGAACAAATGCCTTTTCCCTTTTTCAGATCAAAGACATCTTAAAGCCAGAAATAATGGAGGAGATTGTGATGGAAACACGCCAGAGGCTTTTGGAACAGGAGGGATAAGGAGGTGCTCCAGAAGCACGGGACTGTGGACCTTGCAGGAGTGAAGACTGTGATGTGTGGTCCCCATATGTGGCTCAGCAAAGACTCGAGAGATCATCCCTTTGTCTGCATTGACGGCCCTGTGACGGCCTCCAGCCCACAGGCCTGCTTTCTCCTGTCCTAACACCAAGCCTGGGTGGCAGATGAACAGTGCTTCCTTGGGTTGCCAGCTGAGTCCCGGTATTAGGGAATAGTTTCAGCTCTTTCAAAGTGCACAGTGTTACAGTCGAATGGGCTCCCATCCTGGAATAATATGGAGAATCCTTTGTCTTCCACTCACTGTCATTCACAAGGCACAGTGCCCCATGAAATTGCCCCAATAGAAAACATGGCATCCCTGACCTCCAAATGGTCTGTTTTGGCCTCCATTCCTATATCCTTTAAATGACTGAGAATGCAGCTGGTAAAGTTGGAAGAATAAAGTTAACCAAGCAGGCCAGGCACGGTGGCTCACGCCTATAATCC
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Task1_train_13346
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A variant was discovered on Chromosome 9, affecting ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Leukemia, Philadelphia chromosome-positive, resistant to imatinib
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GTCCCGCTCCGTTTTCTTTGTGTGCAGCACTTGTGTTGGTGACCAGCAGTGAAGAGAGTGCGTGGACGTCACCGTGTGGTTATGAAGCTAACGGCAGCCCTCAGCGGTGCCGACTTCCGCTCCCCGACACATTCCTGTGTGCACGTTCGTGGGTCTGAGCGTGACTCATGGTGTGTGTCCCTAGAGCAGTTCACTCAGAGGCTTCTCTTCCGTGCTCTCAAGAATAAAAGCAGGGCCGCCACATCCTGATAAGTCTTGCCATTCAGCGGTCCTGTCTTGCAGAGGGATAAGCCAGTGTCCCCAGGCCACAGTCCTTACACCTTGAGCAAGTTCCCCAGAGTGAAGCAATCTTTCTAGACAAGTTTTGCGTTTCTCAGAATTTTATTTTAGTGATATTGTTACCAAAAGATTGTAACCCCAAAATGTGTGCCTTTGGCTTGCCTGTTTTAGGAATTCACTTGTGTTATCTCCCCAAGCAAAACAAAAGAAAGAGAAACCTTCCTGTTGACGAATCCTTTTTACCTTCTTGAGAGTTGTCAATGGGACTAACTTGTATATTTCTTTGCTACCTTCTTTTAAAAACATTTTTCTTATTTACTATTACAGACGTATAGTAATGGTGCCTGACATAACCCACAGCCAAAGGCCTTGGCCTTGCTGTGTGTATTTCAGGCTTTTTCTTCCCTTTTCTTTTTTTTTAAGTAATAAGATATTACAGTTATAGCTGAAGCCTGATCCTGTTCCCTTTTCTCCCTCTCGTCCCAAGCATCACCACTGTCCCAAATCTGCTCCTTCTTCCCACATCTTTGCAGTTTGGGCAAGTCTTCTGAATGCCTAGTCATGATTTTAAGTCTTCTTTCCACCTTCAGTGATGGTTGGCTACCCTGAGCAAGCCAGTAGATTCAGTTATGTGCCTGGAGTCCAGATGTTTTATGTGGATTTTTCATGTGGAATTGTTTTTGGTAAGGAAGTATTCCCTTGCCACACCAATGAAAAGAGAAGAAAACAGGTAGCTGGCACCCACTGCATTGTTGCTTTCTGCCAGCCTGCTCCTTCTCCTTCCTCTCCAGCTCTGTTGTGTCCAGATGCAAACTCTACATGCAGGGTTTGACCCTAGGTCCTCACCTGCTGTAGCTCTCACACGGGGACCGAATGCTCTTGTGTCGTAAATCCTTCCTTTTGCTTCCTCGTGTTGGATGTGTTTAGTGGTTTTCATCTTCTGGTCACTATTTCATTCTAGGTTTATCCCCTTTAAATTATAAATTAAATGAATTCTTCGCTTTTCCTACCAGCAACTACCCACCAAGTTCTACCATGTGTTAATTTAATCAACAGTTATTTATTGAGTACTTATTACATGTTGATTTCCTGTTCTCAACATTGGAATGAAGACAGCTTAGGGTTCTGCTTTCATGAAGCTTGCATGCTCTTAGGTGGAGACAGACAGTAATTAAGCAGATAAACAGGAAATTATGAGCTAGTAGTGGGTCCATTGCTGAGAAGTAAGACAGGTGGTAGGATGACCCGTGCCGTGTGATGACTTTAGATTGGGTGGTTGGGGAAGACTTCACGGACCTTAAAACTGGCCTTGGAACGGGAAGCGAGAACTGGGCACGGAAGATGAGGGAGTGGGAGATTTCAGGCAGAGGGAGCAGCAGCAGGTACAGAGGCCCTGAGGCCTTTTATTGTGTCTTTTTGCTTGAGCGAGTAACTTAGAGCACACGTAGAGAAAGACAGCAGAAGTGATCTTCTAAACACTCTGTCCTGTGTGGAGAGCTCCTTATGTGAGATTTTGCTGTGTAGTGAATTAAGGCTCAGCCAAACTGGCTCACGTGAGCTCTTTGAGCTTGCCTGTCTCTGTGGGCTGAAGGCTGTTCCCTGTTTCCTTCAGCTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCATCATCATTCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAACTACGACAAGTGGGAGATGGAACGCACGGACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTGGAAGAAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAGGTAGGCTGGGACTGCCGGGGGTGCCCAGGGTACGTGGGGCAAGGCGTCTGCTGGCATTAGGCGATGCATCTGCCTGGAAGTCTACCTCCTGCCTGCTGTCCGAGGGCTTCATTGGCGCCACGGAATTGACTTTTCCGTCTTATATCATTCCTGTGTCTTTGTAGGAGTGGAATCATTCTCATAGTCCGAGTGTGTTTCCACATATGGTGAGAGCTGACAAGCATGGAGGGGTTTTGGTGTAAAAAGATTAGTCATTTGGAGAGGTTTTCTCATTTTATGGCAAGGTTCTTTTAAAGCCGTGGATTTCCATGCTGTTCGTGCGGCATGGAGATCACTTCCTACCGAGAGTTAAGGAGGAAAAAAAGATCTCTGAGTTTTGAAAGAAGATTTAACCAAAATGCATTTGACTCTTCTGTGGATTTTTGTTGGCTGATTTGGAAGGCAGGTGCCCTGGGCATCCCCAGTGGGTTCCAATTCTGCAGCTGCCCAGACTCCTGCAGGCAGAGGTGGAAGTGTCCCCGCTAGAAAGGCATCCAGGAAACTCGCTTTTGACCAACTCAGATACAGTCTGGTCTTTCTTGTTAACTGGGACTTTACCCTCTCCACTAATGAATAGTGTTTGTAGTTTCCAGGCAGGTTTTTTTCTTCTTTTGAAGTTCTTTGAAACCCTTAGGACGCCAAGGGAAGGAAGTTTTCATTTTCAGCCCTTTGCATTCTTCAAAATGTGATCCAGGCTTTTCCCTGTGGCGAGGGTGTCCCCTAGTGTTGACTTACATTATTTCCACTTGTTTTAAATGAACTTTGATTACCTTGACCTGTGCACAGAAATCAAGAGAGGCAGCCCCTTTTTAGAGCTGTTAGAAAAGAACTGAAACATCCACCTCTGGGAAAAATAGAGTTTAGTTTGTGCATGTGTCTCAGAAGTCAGGTGCACACATTGAGACTGGTGCAGCCACATGCCTGCCTTTTAGGGACTCCTTGACTGACCTGATGCCTTCACCCAAAGGCATAGTGAAATGGGAAGTATGATTTCTGACTGGTATGAAGTGGCTGCTTTAGAGAAAAGATCACATTCTTTAGTCCTAGAAACCAAAGGTGGCTTCCTGATGCTCTTATTCAGCACGTGCCTGTCTTTGAGGCAGGACTGGCACTGGGGTGGGGGCATGGTTTGGGGTTACCTTAAGGACCCTGGATATTTCTCAGATAGGACTTTTTCTTTTCTTTTTTTGAGACGGAGTCTTACTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCCAAATTGGCGATTCTCCTTCCTCAGCCTCACGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCTGTGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTACCTCAGCCTCCCAGAGTGCTGGGATTATAGGCATGAGCCACCACACCCGGCCCTGGACTTTTTCTTAATTGAATAAATATTTATCAAGTTCTTCACTTCTATTTGACGGTTCCTGGGCTCAACACTGGATTAGAAAATGAATGGGACAGAGTTCTTCATCTGAGACATAGGGTGGTCCAGGTAGTAGGAGGAAGAAGGATTGCAGCGCAGCAGTCCTCGGGACACCACCAGGGGGTGAACGAAGGAGGGACGGGGGAGCTGTGCAGGTGCCCCAGCTCCTTGGGTTGCACAGGGTTGAAGACCAGACCCAAGAAATGGGGCCTTGACCAGCTCAGCAAACTGAGAATGGCCTAGATTTCAGCACACTTTCACCAGGATTTGTCAAATGAAGGAAGATTCCAAGCGCAAAATACCCTAGATTTCAACCAGTAAAAGCTTGTCTGAAAACTTCCAAGATCGGGTTGTACAACTTGAC
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GTCCCGCTCCGTTTTCTTTGTGTGCAGCACTTGTGTTGGTGACCAGCAGTGAAGAGAGTGCGTGGACGTCACCGTGTGGTTATGAAGCTAACGGCAGCCCTCAGCGGTGCCGACTTCCGCTCCCCGACACATTCCTGTGTGCACGTTCGTGGGTCTGAGCGTGACTCATGGTGTGTGTCCCTAGAGCAGTTCACTCAGAGGCTTCTCTTCCGTGCTCTCAAGAATAAAAGCAGGGCCGCCACATCCTGATAAGTCTTGCCATTCAGCGGTCCTGTCTTGCAGAGGGATAAGCCAGTGTCCCCAGGCCACAGTCCTTACACCTTGAGCAAGTTCCCCAGAGTGAAGCAATCTTTCTAGACAAGTTTTGCGTTTCTCAGAATTTTATTTTAGTGATATTGTTACCAAAAGATTGTAACCCCAAAATGTGTGCCTTTGGCTTGCCTGTTTTAGGAATTCACTTGTGTTATCTCCCCAAGCAAAACAAAAGAAAGAGAAACCTTCCTGTTGACGAATCCTTTTTACCTTCTTGAGAGTTGTCAATGGGACTAACTTGTATATTTCTTTGCTACCTTCTTTTAAAAACATTTTTCTTATTTACTATTACAGACGTATAGTAATGGTGCCTGACATAACCCACAGCCAAAGGCCTTGGCCTTGCTGTGTGTATTTCAGGCTTTTTCTTCCCTTTTCTTTTTTTTTAAGTAATAAGATATTACAGTTATAGCTGAAGCCTGATCCTGTTCCCTTTTCTCCCTCTCGTCCCAAGCATCACCACTGTCCCAAATCTGCTCCTTCTTCCCACATCTTTGCAGTTTGGGCAAGTCTTCTGAATGCCTAGTCATGATTTTAAGTCTTCTTTCCACCTTCAGTGATGGTTGGCTACCCTGAGCAAGCCAGTAGATTCAGTTATGTGCCTGGAGTCCAGATGTTTTATGTGGATTTTTCATGTGGAATTGTTTTTGGTAAGGAAGTATTCCCTTGCCACACCAATGAAAAGAGAAGAAAACAGGTAGCTGGCACCCACTGCATTGTTGCTTTCTGCCAGCCTGCTCCTTCTCCTTCCTCTCCAGCTCTGTTGTGTCCAGATGCAAACTCTACATGCAGGGTTTGACCCTAGGTCCTCACCTGCTGTAGCTCTCACACGGGGACCGAATGCTCTTGTGTCGTAAATCCTTCCTTTTGCTTCCTCGTGTTGGATGTGTTTAGTGGTTTTCATCTTCTGGTCACTATTTCATTCTAGGTTTATCCCCTTTAAATTATAAATTAAATGAATTCTTCGCTTTTCCTACCAGCAACTACCCACCAAGTTCTACCATGTGTTAATTTAATCAACAGTTATTTATTGAGTACTTATTACATGTTGATTTCCTGTTCTCAACATTGGAATGAAGACAGCTTAGGGTTCTGCTTTCATGAAGCTTGCATGCTCTTAGGTGGAGACAGACAGTAATTAAGCAGATAAACAGGAAATTATGAGCTAGTAGTGGGTCCATTGCTGAGAAGTAAGACAGGTGGTAGGATGACCCGTGCCGTGTGATGACTTTAGATTGGGTGGTTGGGGAAGACTTCACGGACCTTAAAACTGGCCTTGGAACGGGAAGCGAGAACTGGGCACGGAAGATGAGGGAGTGGGAGATTTCAGGCAGAGGGAGCAGCAGCAGGTACAGAGGCCCTGAGGCCTTTTATTGTGTCTTTTTGCTTGAGCGAGTAACTTAGAGCACACGTAGAGAAAGACAGCAGAAGTGATCTTCTAAACACTCTGTCCTGTGTGGAGAGCTCCTTATGTGAGATTTTGCTGTGTAGTGAATTAAGGCTCAGCCAAACTGGCTCACGTGAGCTCTTTGAGCTTGCCTGTCTCTGTGGGCTGAAGGCTGTTCCCTGTTTCCTTCAGCTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCATCATCATTCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAACTACGACAAGTGGGTGATGGAACGCACGGACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTGGAAGAAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAGGTAGGCTGGGACTGCCGGGGGTGCCCAGGGTACGTGGGGCAAGGCGTCTGCTGGCATTAGGCGATGCATCTGCCTGGAAGTCTACCTCCTGCCTGCTGTCCGAGGGCTTCATTGGCGCCACGGAATTGACTTTTCCGTCTTATATCATTCCTGTGTCTTTGTAGGAGTGGAATCATTCTCATAGTCCGAGTGTGTTTCCACATATGGTGAGAGCTGACAAGCATGGAGGGGTTTTGGTGTAAAAAGATTAGTCATTTGGAGAGGTTTTCTCATTTTATGGCAAGGTTCTTTTAAAGCCGTGGATTTCCATGCTGTTCGTGCGGCATGGAGATCACTTCCTACCGAGAGTTAAGGAGGAAAAAAAGATCTCTGAGTTTTGAAAGAAGATTTAACCAAAATGCATTTGACTCTTCTGTGGATTTTTGTTGGCTGATTTGGAAGGCAGGTGCCCTGGGCATCCCCAGTGGGTTCCAATTCTGCAGCTGCCCAGACTCCTGCAGGCAGAGGTGGAAGTGTCCCCGCTAGAAAGGCATCCAGGAAACTCGCTTTTGACCAACTCAGATACAGTCTGGTCTTTCTTGTTAACTGGGACTTTACCCTCTCCACTAATGAATAGTGTTTGTAGTTTCCAGGCAGGTTTTTTTCTTCTTTTGAAGTTCTTTGAAACCCTTAGGACGCCAAGGGAAGGAAGTTTTCATTTTCAGCCCTTTGCATTCTTCAAAATGTGATCCAGGCTTTTCCCTGTGGCGAGGGTGTCCCCTAGTGTTGACTTACATTATTTCCACTTGTTTTAAATGAACTTTGATTACCTTGACCTGTGCACAGAAATCAAGAGAGGCAGCCCCTTTTTAGAGCTGTTAGAAAAGAACTGAAACATCCACCTCTGGGAAAAATAGAGTTTAGTTTGTGCATGTGTCTCAGAAGTCAGGTGCACACATTGAGACTGGTGCAGCCACATGCCTGCCTTTTAGGGACTCCTTGACTGACCTGATGCCTTCACCCAAAGGCATAGTGAAATGGGAAGTATGATTTCTGACTGGTATGAAGTGGCTGCTTTAGAGAAAAGATCACATTCTTTAGTCCTAGAAACCAAAGGTGGCTTCCTGATGCTCTTATTCAGCACGTGCCTGTCTTTGAGGCAGGACTGGCACTGGGGTGGGGGCATGGTTTGGGGTTACCTTAAGGACCCTGGATATTTCTCAGATAGGACTTTTTCTTTTCTTTTTTTGAGACGGAGTCTTACTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCCAAATTGGCGATTCTCCTTCCTCAGCCTCACGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCTGTGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTACCTCAGCCTCCCAGAGTGCTGGGATTATAGGCATGAGCCACCACACCCGGCCCTGGACTTTTTCTTAATTGAATAAATATTTATCAAGTTCTTCACTTCTATTTGACGGTTCCTGGGCTCAACACTGGATTAGAAAATGAATGGGACAGAGTTCTTCATCTGAGACATAGGGTGGTCCAGGTAGTAGGAGGAAGAAGGATTGCAGCGCAGCAGTCCTCGGGACACCACCAGGGGGTGAACGAAGGAGGGACGGGGGAGCTGTGCAGGTGCCCCAGCTCCTTGGGTTGCACAGGGTTGAAGACCAGACCCAAGAAATGGGGCCTTGACCAGCTCAGCAAACTGAGAATGGCCTAGATTTCAGCACACTTTCACCAGGATTTGTCAAATGAAGGAAGATTCCAAGCGCAAAATACCCTAGATTTCAACCAGTAAAAGCTTGTCTGAAAACTTCCAAGATCGGGTTGTACAACTTGAC
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Task1_train_13347
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This sequence variant lies in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Chronic myelogenous leukemia, BCR-ABL1 positive
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ACATAGCCTCATTGGTCACGCTTCACTTGTAAACAGGATTGGCCAAAGCAAGAAGGCTGTAAGTAAAGGTTGGCCCGTCCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGG
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ACATAGCCTCATTGGTCACGCTTCACTTGTAAACAGGATTGGCCAAAGCAAGAAGGCTGTAAGTAAAGGTTGGCCCGTCCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGCTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGG
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Task1_train_13348
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This sequence variant lies in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Abnormal skeletal morphology
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACACCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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Task1_train_13349
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A mutation in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Congenital heart disease
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACACCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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Task1_train_13350
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A variant on Chromosome 9 in gene ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Failure to thrive
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACACCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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Task1_train_13351
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This genomic variant is located on Chromosome 9, within the ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Congenital heart defects and skeletal malformations syndrome
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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CCTCTGGAAGCCTCCCCCACAGCAGGGTGGGGAACTGGGGCAGCCATAGCAAGCAGGACCATCAGGACACGGTGTCTCCCAAACGGGCCGGAACATACAAGGTTCTACGTTTAATAGAAAGTTGATCAAGCCTTCCTCTTTGGGGAGCCTAATTTTTAAGCCATTCACTCTCTGTTCCCCTGCAGTCTTTTCTCTCCAAACTCTGTTGAAACTTGGAGGCATCTCGCTTCCTCCTTTGGCCTTTGTAGCCAGGTTTTCGCAGCAAACAGACCATATCATTTAACACCCACCTGCTTCTTGTTCTGATAGTCAGTTCAGTAGACAGTAGCATTTTTTAAGTCAAAAAGAGGCTTAGTGATGTAGGCCAAGGTCAAGGCTCTGTGTCATGGGGCTCTCCCCAGGGCTCAGTGCCACGGCACTTCAGACTTGACCCCAGACTGAAAAGATGAGAGGACCTGTAGAAGTCACGGCCTGTCTGTCCCGGGCCCATGCTCCTATCTTTTTCTCCCCCTTGGCATTTAGATACCATGGACTTGTTAAAATGTGACATGTACTGATGATCCTTATGAATTTGTTGGTAGGGGAGCTGCTGGTGAGGATTATTTTAGACTGTGAGTAATTGACCTGACAGACAGTGATGACTGCTTCATTAAGAGCCCACGACCACGTGCCAGAATAGTTCAGCATCCTCTGTTGCTACTGTACTTTGAGACATCGTTCTTCTTTGTGATGCAATACCTCTTTCTTGTCATGAGGGTCTCTTCCCTTAAATCAGGTACATTTCAGATTCTTCAGGTGATGTTTTTTAGGCTGAGTGTGTTAGCACCCCTTGGAAACCAGGTTCCCTGGGGAAAGTGTGTCACGTTTGTGGTGTTTGCCCGTATAGCTCTCCCACACCCCCACGAGCTCCAAGAGGTGGGGAAGCACATGTGGCCTGCCTAGCAGGCACCAGAAGCAGGTTGTCGGCACATGCAAGCCAGCTTTGCCCTGTTGCCTGGGGGAGAATTGAAAAGTTTGGCCCCAAAGGGGAAAATTCTTTCTGCCATCAAGTTGCTGGTCAGCTGTCATGGAACCTGTCTGCAGCAATGTGGCTGTCACAAAACGCAGCCCAGGACGAGTATGCGCTGAAGCTCCATTTTGCATTAACTAGTCAAGTACTTACCCACTGAAAAGCACTTCCTGAAATAATTTCACCTTCGTTTTTTTCCTTCTGCAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGTGAGTAAGCCCGGGGCTCTGAAGAGAGGGTCTCGCGCCGCACCCCCAGGGTGACACAGGCGCTGGGGAAGACGCACGGGCGGCTCACTGCACAAAACCTCGTTGGAATATTTGTGCTCTGCCGACGTTCAGCCGCGGGTAAAATGAGGCCTGTATGGGATGGGTGTGTGCGTGTGTGCACATATGCACATGTATGTATGAGAGGGAGAATGTGATTATTTTAAGTGGATACCTAAAAGCAGTCAAATGCAAATCTGAAATTAGTTTCTGAAACTTGGGCATTTTCCAGAGTTTTCTCACTGAAGTGATTCTGTAAGTAGACACATAACCATCAGACCTAACCATTCAGGGGTAAACTGACGGTGGTGAAGGTCATTTGAGGTGGGGCCAGGTCTGCGTCTGAATTCTGTGGCAGCCTCTCCCTGCGTAAATTCAAGTTCACTGGCTTGAGAAGAAGAAAAGAGCCTGGCCATGTCCCTCCCACACGAGCACAGTCTCAGGATGCAGGTGCTTGGGACCATGTTGGAAGTTGGGCCCAGGACTGAGGAGCAGAGTCAGAATCCTTCAGAAGGCTTTTTCTTTAGACAGTTGTTTGTTCAGTTGGGAGCGGAGCCACGTGTTGAAGTCCTCGTTGTCTTGTTGGCAGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACACCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAGTACCTGGAGAAGAAAAACTTCATCCACAGGTAGGGGCCTGGCCAGGCAGCCTGCGCCATGGAGTCACAGGGCGTGGAGCCGGGCAGCCTTTTACAAAAAGCCCCAGCCTAGGAGGTCTCAGGGCGCAGCTTCTAACCTCAGTGCTGGCAACACATTGGACCTTGGAACAAAGGCAAACACTAGGCTCCTGGCAAAGCCAGCTTTGGGCATGCATCCAGGGCTAAATTCAGCCAGGCCTAGACTCTGGACCAGTGGAGCAGCTAATCCCCGGAGTAAGGAATATTTCATTTTTGAACCATTTTGGGCTAAGTGGAATATTAAATGAAGTTCATAAAAGGCGTCCTTCCTAATAATCACAGTCCCCTCTGAAAGAGAGTACTCATTGTTCCTCCGGGGCCAGCGCCCAGCAGTAATGGCCTCTTCCTGGGAGCCGCTGGCATTGCTTTTACGCAAACTCATGGGAACAACCAGTACATGGCTTTTGTTTTTTAGTGTGTGTGTCTTTTTTTCCTGCTTTCTCTTTATTATCTTTTCATTCTCCACTTAACTTGCTGTCCTCTGATTCAGGGATGTTTCCACAATTGTCAGAATTGTGTATGTGGAGGTCTAAATTAAGTGTCTTTGCTGTTTTAAACCCTGAAGTGTTTTGACCTTCAAATGTGCCACAATTATCTTGGTCTTCAAATTCTTTGCTGGTGGAAATGGCTTCCCAGCAAAGCGACGGCCTGTGCAGGACAGAGCCTGATGGGCTTTGCTGGCGTCTTTTATACGAGATGTTCTCCACACCACCACTGTGACCTTTCCTACCCAATTAGCTCAAGTATGAAACCTCTACATGAGATTTCATAGCAAGGAATAAGGGTAGCATGTGTGAAATGCTGGCGGCTCCTTGTAAGACAGATTTTCTATGCTCCATGAGAGCCTGATCCAGATACTCCTGGCTTTCAGGAAAGTGAATCCTCTGATGCTGCAAATTGAGATTGCTTGACTTCTGGTTTGCCTGGCACGGCCGGGTCCGTTCCTTCTTCATTCAAGCGAACTTAAAATGCTTTATCAAAATCCTCTTAGGCACAACTCTTCTGTATTTAATTTCACTCTTGTTGCTGACGATCAGGCTATCTCACGCAGCCATCACCTCAAGCTGCTGCCCCCTCTCATTCCGCTCTTCCCGTTTGCCTTGTGATTTCATGGTTAATGTTCATGAACCAAAGATTAGACTCCTACCTCCCTGGGAGAATCAGGAAGTGAGAGGAAGCAGATTATACAGGAGAGAGTTTTTTAGGATACATTTGGGTACACCTCAGGAAGAAAGAGGGAAGTAGGAAACACAGTTTGGGTAAAGAATGCCATGGGCTTTGTTTTATTTTGTCCCATCAAGTCTGAATAGGACAAGTGGAGATGCACTCTGATAGAAGTTTCTTGCAATCAAGGACTGGGCTCAGTGTTTGTCTCCGTGCCTGGCATAGAGTAGCAATAACTGCACTTACTATTCTCGACACTTCAATCAAAGCACTTAGCATATTAATTAATTACACTCACAGCAACCCTAAGAGGTAGGTGCCATTATTATCGTCTTCATTTTACGGATGAGGTAACTGAGTCCCAGGGTAATTAACTTGCTCCAGGTCATGAGGCCAGGGAGCCCGCTCCCAGCACCAGCCTCTCCCCATGTTGGGATCTCAGGGTGTGTTTGCTGAGAGGCTGGCACTGTGTTAATTGCCGTGGGCATTAATACAAACTTCCAGGGCATTGGACTCAATCTTTCCATTGTCAGCATTGCACCTTTGCTCAGCAGTGGTGGATTTGTGAAGTGGAAGGTTGGCCAGGAGCTCTCATGGGTGAACATTTTCCTTTCTTAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGA
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Task1_train_13352
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A sequence alteration has been identified in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase) on Chromosome 9. Is it disease-inducing or harmless?
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Pathogenic; not provided
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CTCGGCTCACTGCAACCTCCGCCTACCAGATTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAAATTTTTTTGTATTTTTAGTAAAGATGGGGTTTCACCATGTTGCCCAGGCTGGCCTTGAACTTCTGAGCTCAGGCAGTCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCTGCCACAAGTTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTATAGGCGCCCGCCGCCACACTCGGCCAATTTTTTTTCTATTTTTGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCGATCTCCGGACTTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCACAAGTTAGTTTCTTAATACCCTTCAGTGGTGGCCAATTAGGTTTTTGCTGTCATTGGTGGTATTATGAACTCTCAGATTTATATATATCTGATGTGTTTCAGTCCACTGCGGTTATTTTCCCTGTTGATATTCAGATTGTCTCGTCTTTGGCCAGTGGGAACTTCACATTAGCTCCTAGTCATTTTGACATTAACTTTGTAGTTTTCCATGACGTCCGCGCCCTCAAATGACAAGCTATTGCAGGTTCATTCTGTGCCCCAGGCCTGAATCACCCATTTCTCTAAGGAATCTTATCCTTTAATGGGAAATGGAATTTTAAGGCAATAATCTCAGATTTCAAAACTTTCAAAGATTTCATAAGATTTTTATGAAATGTTTAGAGTTAGAAGGGGCTTTGGAGATAGTCTTGTGCACCCAGAAAGCAGTGGTGGCCGGTTAGGCACAGAGCTGGTTGGTCACAGAGCTAAGAGTTAACATGGCCAGCTGACTTCCGGCGCCAGGTTCCTTCTACCACATATCCCAGCAAGATGGTCACATTACCTAAAAGACCCCACAGGGTCTGAAACTCATCATCTGCCCTCCTCTAGCATGTTTGTGGGGTAAGTTTACTGAGTCTTGTTCTGTCCTGGTCTCCTTTTTTTTTTTTTATTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGCGTGCAGTGGAGCAATATCAGCTCACTACAACCTCCGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAAAGTAGCCAGGACTACTGGCGTACACCACCACACCTGGCTAAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGCCTGGAGTGCAGTGGCGCGATCTTGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCATCTACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAATTCCTGACCTCAAATAATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTTGTCCTGGTCTTCTGATGATAAAGAGCCTGGTAAAATGTCAGAGCCTGGGCTGCTGCTGGGGCCATCCCTTCTGAGGTCTGCTGCAAAGGTAACTGATTTTAAATGTAGTGTAGTGAAATGCTACACATCTTGAACAGCCTTTCTCTTTCGGTTTTCTTTCAGCATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTACCCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATGCGAGCATGTAAGCCTTCCTCAGCCTGTTCTCACGAGTATATGTGGGCATTCCAGGAAATTCAACTGTGCAGGAGTGTGTACACAAAGTTGAAAGTTTTTCCATGAGCTCTCTCCATTCCAGTTCTTCAGATGCAGCTAATGTAGCCATTTGCTACCTATTGACCTTTATTTACAGATAAATAGTATGTGCGTGACTTGTCTTTTAAAGCAAAAATGGTATTGATAGATACCAAACCTGGGTGTATTCCTAAATACAGATTCCTGGGCCCTGCTTTCACAGACATTCTGCTATAGTAGCTAAGCTCATGAGGTGATTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTACAATGGCGCAATGTTGGCTCACTTCAACCTCCACCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTAGTCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCACGCCCAGCTGCGAGGTGATTTTTATCTGGTCGTTTTATACTGATTACATATGTGTTATCTGTACTATGCACACACAGGATGTTTTCATATATCTTATAAGGTATTTATATGGCCATTTCTTACACTGTTTTCCCACACATGTCTTTCCACGTCCATATATTCAGATCTCTCCCTCTCCCTACCTCTTATTTATGTATAGCTGCCCAGTACTCCATTTCACTCATTCATCCGGTCCTCTTTTGATGTGCATTTGGTTGTTTTACACATTTGTTTGGTTTTTGCCCTTATAAACAAAGCAGAAACAAATATTCATGTACACGAATCTCTGGGCACTTTGGCTGGTATTTCTAAAAGTTGAACTGTTGGTTCCAAGAACTGTGTGGGTTTTAAATTTTGATACATTTTACCAAACTGTTAAAAAAGGTTGTGCCATTGTATGCTCCAGTCAGACGCATATGGGAGTGACTGTTCCTGGTCCCCAGTACTAGGCTTTGTCAGTCTGTTTAGTCCTCATGTTAGTCTCATTTTCATGAGAATTTCTTTACTTCAGACTTTGATAACCGTGAAGAAAGAACAAGATAGAAGGTGAGCTGTTTGGCTTAGTAATTTTCTACACCTACTAGAGCGGGACTGGGAAAAATATATTTGTAAATGCAGTTCTTGCTGTCACTGTCTCTCTGGGGTTTTACAATCCATATTCCTGCCAGCATCTAACGTCTTTTCAAATTCTTAATGTCTATAACAGGACATGATGACATTCATCGTTTTGACTTGTTGCAGCAAAAGATGGTTAGCAGGATTGGAATGTTGCTTTCATTCTAGACTTTTCCTTGAGAACTGCTAGCCCCGTATTGCTAGCCAGATCTCATGGATGATCTGACTTGGGTTTCATCTGTCCAGGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAGTATCTCAGACGGTAAAGTACCCATCCCGGGGTACCTGCAGTGGGGTGAAAGGGCAGCCATGTGGGACTGCAGCCTGGGTCATTCGGTTCACTTCCTGGTGAAAGTTCACAGACCAGCCTGTCCTGAGACCAGAAAGCTGGGCAGAGGTGTGGAGTATTGTGCTTTCTTGTCTGCTGCAGCCCTGCAGAGTTCTAAGAAATGCTAAGGGCTGTTTCTCCGGTATCCACGTGCCTTTTCTTTAGTTGTATGCAGATGAGCACTGTTACCTTACAAAGAAAGAGAACCACCACACCAAGCCAACACCAGTACTGATGGCTGCTGGATTTTTGTTTCTGTCCCTGTATGATTCTTAGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAG
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CTCGGCTCACTGCAACCTCCGCCTACCAGATTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAAATTTTTTTGTATTTTTAGTAAAGATGGGGTTTCACCATGTTGCCCAGGCTGGCCTTGAACTTCTGAGCTCAGGCAGTCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCTGCCACAAGTTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACTATAGGCGCCCGCCGCCACACTCGGCCAATTTTTTTTCTATTTTTGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCGATCTCCGGACTTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCACAAGTTAGTTTCTTAATACCCTTCAGTGGTGGCCAATTAGGTTTTTGCTGTCATTGGTGGTATTATGAACTCTCAGATTTATATATATCTGATGTGTTTCAGTCCACTGCGGTTATTTTCCCTGTTGATATTCAGATTGTCTCGTCTTTGGCCAGTGGGAACTTCACATTAGCTCCTAGTCATTTTGACATTAACTTTGTAGTTTTCCATGACGTCCGCGCCCTCAAATGACAAGCTATTGCAGGTTCATTCTGTGCCCCAGGCCTGAATCACCCATTTCTCTAAGGAATCTTATCCTTTAATGGGAAATGGAATTTTAAGGCAATAATCTCAGATTTCAAAACTTTCAAAGATTTCATAAGATTTTTATGAAATGTTTAGAGTTAGAAGGGGCTTTGGAGATAGTCTTGTGCACCCAGAAAGCAGTGGTGGCCGGTTAGGCACAGAGCTGGTTGGTCACAGAGCTAAGAGTTAACATGGCCAGCTGACTTCCGGCGCCAGGTTCCTTCTACCACATATCCCAGCAAGATGGTCACATTACCTAAAAGACCCCACAGGGTCTGAAACTCATCATCTGCCCTCCTCTAGCATGTTTGTGGGGTAAGTTTACTGAGTCTTGTTCTGTCCTGGTCTCCTTTTTTTTTTTTTATTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGCGTGCAGTGGAGCAATATCAGCTCACTACAACCTCCGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCAAAGTAGCCAGGACTACTGGCGTACACCACCACACCTGGCTAAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGCCTGGAGTGCAGTGGCGCGATCTTGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCATCTACCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTGAATTCCTGACCTCAAATAATCCTCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTTGTCCTGGTCTTCTGATGATAAAGAGCCTGGTAAAATGTCAGAGCCTGGGCTGCTGCTGGGGCCATCCCTTCTGAGGTCTGCTGCAAAGGTAACTGATTTTAAATGTAGTGTAGTGAAATGCTACACATCTTGAACAGCCTTTCTCTTTCGGTTTTCTTTCAGCATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTACCCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGACTGCCCAGAGAAGGTCTATGAACTCATGCGAGCATGTAAGCCTTCCTCAGCCTGTTCTCACGAGTATATGTGGGCATTCCAGGAAATTCAACTGTGCAGGAGTGTGTACACAAAGTTGAAAGTTTTTCCATGAGCTCTCTCCATTCCAGTTCTTCAGATGCAGCTAATGTAGCCATTTGCTACCTATTGACCTTTATTTACAGATAAATAGTATGTGCGTGACTTGTCTTTTAAAGCAAAAATGGTATTGATAGATACCAAACCTGGGTGTATTCCTAAATACAGATTCCTGGGCCCTGCTTTCACAGACATTCTGCTATAGTAGCTAAGCTCATGAGGTGATTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTACAATGGCGCAATGTTGGCTCACTTCAACCTCCACCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTAGTCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCACGCCCAGCTGCGAGGTGATTTTTATCTGGTCGTTTTATACTGATTACATATGTGTTATCTGTACTATGCACACACAGGATGTTTTCATATATCTTATAAGGTATTTATATGGCCATTTCTTACACTGTTTTCCCACACATGTCTTTCCACGTCCATATATTCAGATCTCTCCCTCTCCCTACCTCTTATTTATGTATAGCTGCCCAGTACTCCATTTCACTCATTCATCCGGTCCTCTTTTGATGTGCATTTGGTTGTTTTACACATTTGTTTGGTTTTTGCCCTTATAAACAAAGCAGAAACAAATATTCATGTACACGAATCTCTGGGCACTTTGGCTGGTATTTCTAAAAGTTGAACTGTTGGTTCCAAGAACTGTGTGGGTTTTAAATTTTGATACATTTTACCAAACTGTTAAAAAAGGTTGTGCCATTGTATGCTCCAGTCAGACGCATATGGGAGTGACTGTTCCTGGTCCCCAGTACTAGGCTTTGTCAGTCTGTTTAGTCCTCATGTTAGTCTCATTTTCATGAGAATTTCTTTACTTCAGACTTTGATAACCGTGAAGAAAGAACAAGATAGAAGGTGAGCTGTTTGGCTTAGTAATTTTCTACACCTACTAGAGCGGGACTGGGAAAAATATATTTGTAAATGCAGTTCTTGCTGTCACTGTCTCTCTGGGGTTTTACAATCCATATTCCTGCCAGCATCTAACGTCTTTTCAAATTCTTAATGTCTATAACAGGACATGATGACATTCATCGTTTTGACTTGTTGCAGCAAAAGATGGTTAGCAGGATTGGAATGTTGCTTTCATTCTAGACTTTTCCTTGAGAACTGCTAGCCCCGTATTGCTAGCCAGATCTCATGGATGATCTGACTTGGGTTTCATCTGTCCAGGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAGTATCTCAGACGGTAAAGTACCCATCCCGGGGTACCTGCAGTGGGGTGAAAGGGCAGCCATGTGGGACTGCAGCCTGGGTCATTCGGTTCACTTCCTGGTGAAAGTTCACAGACCAGCCTGTCCTGAGACCAGAAAGCTGGGCAGAGGTGTGGAGTATTGTGCTTTCTTGTCTGCTGCAGCCCTGCAGAGTTCTAAGAAATGCTAAGGGCTGTTTCTCCGGTATCCACGTGCCTTTTCTTTAGTTGTATGCAGATGAGCACTGTTACCTTACAAAGAAAGAGAACCACCACACCAAGCCAACACCAGTACTGATGGCTGCTGGATTTTTGTTTCTGTCCCTGTATGATTCTTAGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAG
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Task1_train_13353
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A mutation in ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Congenital heart defects and skeletal malformations syndrome
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TGTCCCCTTACCCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATGCGAGCATGTAAGCCTTCCTCAGCCTGTTCTCACGAGTATATGTGGGCATTCCAGGAAATTCAACTGTGCAGGAGTGTGTACACAAAGTTGAAAGTTTTTCCATGAGCTCTCTCCATTCCAGTTCTTCAGATGCAGCTAATGTAGCCATTTGCTACCTATTGACCTTTATTTACAGATAAATAGTATGTGCGTGACTTGTCTTTTAAAGCAAAAATGGTATTGATAGATACCAAACCTGGGTGTATTCCTAAATACAGATTCCTGGGCCCTGCTTTCACAGACATTCTGCTATAGTAGCTAAGCTCATGAGGTGATTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTACAATGGCGCAATGTTGGCTCACTTCAACCTCCACCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTAGTCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCACGCCCAGCTGCGAGGTGATTTTTATCTGGTCGTTTTATACTGATTACATATGTGTTATCTGTACTATGCACACACAGGATGTTTTCATATATCTTATAAGGTATTTATATGGCCATTTCTTACACTGTTTTCCCACACATGTCTTTCCACGTCCATATATTCAGATCTCTCCCTCTCCCTACCTCTTATTTATGTATAGCTGCCCAGTACTCCATTTCACTCATTCATCCGGTCCTCTTTTGATGTGCATTTGGTTGTTTTACACATTTGTTTGGTTTTTGCCCTTATAAACAAAGCAGAAACAAATATTCATGTACACGAATCTCTGGGCACTTTGGCTGGTATTTCTAAAAGTTGAACTGTTGGTTCCAAGAACTGTGTGGGTTTTAAATTTTGATACATTTTACCAAACTGTTAAAAAAGGTTGTGCCATTGTATGCTCCAGTCAGACGCATATGGGAGTGACTGTTCCTGGTCCCCAGTACTAGGCTTTGTCAGTCTGTTTAGTCCTCATGTTAGTCTCATTTTCATGAGAATTTCTTTACTTCAGACTTTGATAACCGTGAAGAAAGAACAAGATAGAAGGTGAGCTGTTTGGCTTAGTAATTTTCTACACCTACTAGAGCGGGACTGGGAAAAATATATTTGTAAATGCAGTTCTTGCTGTCACTGTCTCTCTGGGGTTTTACAATCCATATTCCTGCCAGCATCTAACGTCTTTTCAAATTCTTAATGTCTATAACAGGACATGATGACATTCATCGTTTTGACTTGTTGCAGCAAAAGATGGTTAGCAGGATTGGAATGTTGCTTTCATTCTAGACTTTTCCTTGAGAACTGCTAGCCCCGTATTGCTAGCCAGATCTCATGGATGATCTGACTTGGGTTTCATCTGTCCAGGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAGTATCTCAGACGGTAAAGTACCCATCCCGGGGTACCTGCAGTGGGGTGAAAGGGCAGCCATGTGGGACTGCAGCCTGGGTCATTCGGTTCACTTCCTGGTGAAAGTTCACAGACCAGCCTGTCCTGAGACCAGAAAGCTGGGCAGAGGTGTGGAGTATTGTGCTTTCTTGTCTGCTGCAGCCCTGCAGAGTTCTAAGAAATGCTAAGGGCTGTTTCTCCGGTATCCACGTGCCTTTTCTTTAGTTGTATGCAGATGAGCACTGTTACCTTACAAAGAAAGAGAACCACCACACCAAGCCAACACCAGTACTGATGGCTGCTGGATTTTTGTTTCTGTCCCTGTATGATTCTTAGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAGACGAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCGGTAAGTCCCCCGCTTCCCCCAACCCCACTGCTCTTCCCTTCCCTGCCAGAGGCTACATTCAGGCCATCATAGGCCAACGGGAAGCTGTGAATGGAGCCCGCACAGAAGGGCAGCCATGGCCTTTGTCAATGGTTCAGCTTCGGAAGGAGGAAGGTTCTCCTCTCCCCACCTGCCTCCTATCCCCTCCCTCTGAGAGTCCCCGAGGAGCATAGGCTCCAGCAGTGAGTTCAGTCCTGTAGGCAGAGGTGCTTCTGAAGCCCGCCAAGGAGCTAGCCCATCTCCCACCTATTACCCGCGGCATCTGTGGTTGCTGTCTCAGAGCAGATTCAACAATAGTAAGCACCAGGCTGCGTGACAAGCAGCTCACGGTGAAGGCACTGATGTGAGAAGCTCGCTGCAGCCAGGTGGAACCAGGACACGCACATGGACAGAACCCGTGTCCTGGTGGTCTCTGGGAAGAGCATCTTTCTGGTGCCATTGCCTAGGCGAGCAAGGGAGTTGGGATCAGCTCAGGAGGGGGTCTCAAGACACTAGCAAAAATAATAATGGCCAACATTTATGTAGTGTGCCTACTACAGGCCAGGCTCTGTTCTATGTTCATGGTTGACCCCCAGAACCAGCAGTCCAGGTTCTGCTGCAGACCAGCTGAACAAAAGCATTGAGGGGTGTATTAGTCTGTTTTCATGCTGCTAATAAAGGTATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTCACTGACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGCTGAAGGTGAATGAGGAGCAAGGTCACATCTTACTTGGCGGCAGGCAAGAGAGCTTGTGCAGGGGAAGTCCGCTTTATAAAACCATCAGATCTCGTGAGACTTATTCACTACCACGAGAATGTGGGAGAAACCTCCCCATGATTCATTGATCTCCACCTGACCCCACCGTTGACACGTGGGGCTTATTACAATTCAAGGTGAGATTTGGGTGGGGACTCAGCCAACCCATATTGGAGGTGGGGGGTAGGCCAAGCATCTGGGTTCACAGAGGATCCTGGGGATGGCAATGGTGGACTCCATTCTAATGGACTGCAGACTGGGTACATGTGAAGGGACTGGACAAAGCCCTACTTCTTGAAGATTTATGGTGGGATGTTTACTGACAGCAGAATCTATAAACCTGAGTTTTATCACGTACTCTCATTAGTAAAAAAAAAACAAAAAAAAACAGAACATGCAGCCCATATATATGGTATATAAAGTACGTATGTCCACTACTGTAGGAGTAGAGTGCGTATGTTATGTACCAAAACGCACATTTAAAAGGCTTGCATGCTAAATAAGTCCAAATTTGCAATACTTCCCGCCCCGCTGGGCCATCTCACTCACCTACTTGGAGGTTATGGCGTATAGACTCTCCAGAATCTTCCACCCTTCCTCCTCTTATCGGTTTTCCTGATTTCAGGTGGCTGAGCAGTAGGGAGGAGAGGCCTCTGGGAACGCTGTGCTTATTAAGAACCCAGTGATCAGCAGTCATGTTCATTTACGCCCGTCAGTTTCATCTGAGGGGTATTTTGATAGTGATCTCTTGGTGAGCCGAGGGTGTCAATTAACTGCTCAGTGCTGAAACTGAGTGGTGCATAATTCATTGCAATTTCACTCTCCTGGCCTCCTTCCACTAGATTAAAGTTTTGGGAGGGCTTTGGTGTTCCCTGATTCAGATGTCCCGCGTGCTGCCTTGGGTTCTGATAAATGCATACTGGTACCTCTGTTGAGTTACAGGTGCCAACAGAAAACCTCTTCTTGCAAGCTGACCTCTGAGGGAGAATTCTGTTACTCACTAGCAGGAGCTTGGCAACACCAAAAAGATTTCCTTTTTT
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TGTCCCCTTACCCGGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATGCGAGCATGTAAGCCTTCCTCAGCCTGTTCTCACGAGTATATGTGGGCATTCCAGGAAATTCAACTGTGCAGGAGTGTGTACACAAAGTTGAAAGTTTTTCCATGAGCTCTCTCCATTCCAGTTCTTCAGATGCAGCTAATGTAGCCATTTGCTACCTATTGACCTTTATTTACAGATAAATAGTATGTGCGTGACTTGTCTTTTAAAGCAAAAATGGTATTGATAGATACCAAACCTGGGTGTATTCCTAAATACAGATTCCTGGGCCCTGCTTTCACAGACATTCTGCTATAGTAGCTAAGCTCATGAGGTGATTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTACAATGGCGCAATGTTGGCTCACTTCAACCTCCACCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTAGTCAGGCTGGTCTCCAACTCCCAACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCACGCCCAGCTGCGAGGTGATTTTTATCTGGTCGTTTTATACTGATTACATATGTGTTATCTGTACTATGCACACACAGGATGTTTTCATATATCTTATAAGGTATTTATATGGCCATTTCTTACACTGTTTTCCCACACATGTCTTTCCACGTCCATATATTCAGATCTCTCCCTCTCCCTACCTCTTATTTATGTATAGCTGCCCAGTACTCCATTTCACTCATTCATCCGGTCCTCTTTTGATGTGCATTTGGTTGTTTTACACATTTGTTTGGTTTTTGCCCTTATAAACAAAGCAGAAACAAATATTCATGTACACGAATCTCTGGGCACTTTGGCTGGTATTTCTAAAAGTTGAACTGTTGGTTCCAAGAACTGTGTGGGTTTTAAATTTTGATACATTTTACCAAACTGTTAAAAAAGGTTGTGCCATTGTATGCTCCAGTCAGACGCATATGGGAGTGACTGTTCCTGGTCCCCAGTACTAGGCTTTGTCAGTCTGTTTAGTCCTCATGTTAGTCTCATTTTCATGAGAATTTCTTTACTTCAGACTTTGATAACCGTGAAGAAAGAACAAGATAGAAGGTGAGCTGTTTGGCTTAGTAATTTTCTACACCTACTAGAGCGGGACTGGGAAAAATATATTTGTAAATGCAGTTCTTGCTGTCACTGTCTCTCTGGGGTTTTACAATCCATATTCCTGCCAGCATCTAACGTCTTTTCAAATTCTTAATGTCTATAACAGGACATGATGACATTCATCGTTTTGACTTGTTGCAGCAAAAGATGGTTAGCAGGATTGGAATGTTGCTTTCATTCTAGACTTTTCCTTGAGAACTGCTAGCCCCGTATTGCTAGCCAGATCTCATGGATGATCTGACTTGGGTTTCATCTGTCCAGGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAGTATCTCAGACGGTAAAGTACCCATCCCGGGGTACCTGCAGTGGGGTGAAAGGGCAGCCATGTGGGACTGCAGCCTGGGTCATTCGGTTCACTTCCTGGTGAAAGTTCACAGACCAGCCTGTCCTGAGACCAGAAAGCTGGGCAGAGGTGTGGAGTATTGTGCTTTCTTGTCTGCTGCAGCCCTGCAGAGTTCTAAGAAATGCTAAGGGCTGTTTCTCCGGTATCCACGTGCCTTTTCTTTAGTTGTATGCAGATGAGCACTGTTACCTTACAAAGAAAGAGAACCACCACACCAAGCCAACACCAGTACTGATGGCTGCTGGATTTTTGTTTCTGTCCCTGTATGATTCTTAGAAATGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAGACGAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCGGTAAGTCCCCCGCTTCCCCCAACCCCACTGCTCTTCCCTTCCCTGCCAGAGGCTACATTCAGGCCATCATAGGCCAACGGGAAGCTGTGAATGGAGCCCGCACAGAAGGGCAGCCATGGCCTTTGTCAATGGTTCAGCTTCGGAAGGAGGAAGGTTCTCCTCTCCCCACCTGCCTCCTATCCCCTCCCTCTGAGAGTCCCCGAGGAGCATAGGCTCCAGCAGTGAGTTCAGTCCTGTAGGCAGAGGTGCTTCTGAAGCCCGCCAAGGAGCTAGCCCATCTCCCACCTATTACCCGCGGCATCTGTGGTTGCTGTCTCAGAGCAGATTCAACAATAGTAAGCACCAGGCTGCGTGACAAGCAGCTCACGGTGAAGGCACTGATGTGAGAAGCTCGCTGCAGCCAGGTGGAACCAGGACACGCACATGGACAGAACCCGTGTCCTGGTGGTCTCTGGGAAGAGCATCTTTCTGGTGCCATTGCCTAGGCGAGCAAGGGAGTTGGGATCAGCTCAGGAGGGGGTCTCAAGACACTAGCAAAAATAATAATGGCCAACATTTATGTAGTGTGCCTACTACAGGCCAGGCTCTGTTCTATGTTCATGGTTGACCCCCAGAACCAGCAGTCCAGGTTCTGCTGCAGACCAGCTGAACAAAAGCATTGAGGGGTGTATTAGTCTGTTTTCATGCTGCTAATAAAGGTATACCCAAGACTGGGTAATTTATAAAGGAAAGAGGTTTCACTGACTCACAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGCTGAAGGTGAATGAGGAGCAAGGTCACATCTTACTTGGCGGCAGGCAAGAGAGCTTGTGCAGGGGAAGTCCGCTTTATAAAACCATCAGATCTCGTGAGACTTATTCACTACCACGAGAATGTGGGAGAAACCTCCCCATGATTCATTGATCTCCACCTGACCCCACCGTTGACACGTGGGGCTTATTACAATTCAAGGTGAGATTTGGGTGGGGACTCAGCCAACCCATATTGGAGGTGGGGGGTAGGCCAAGCATCTGGGTTCACAGAGGATCCTGGGGATGGCAATGGTGGACTCCATTCTAATGGACTGCAGACTGGGTACATGTGAAGGGACTGGACAAAGCCCTACTTCTTGAAGATTTATGGTGGGATGTTTACTGACAGCAGAATCTATAAACCTGAGTTTTATCACGTACTCTCATTAGTAAAAAAAAAACAAAAAAAAACAGAACATGCAGCCCATATATATGGTATATAAAGTACGTATGTCCACTACTGTAGGAGTAGAGTGCGTATGTTATGTACCAAAACGCACATTTAAAAGGCTTGCATGCTAAATAAGTCCAAATTTGCAATACTTCCCGCCCCGCTGGGCCATCTCACTCACCTACTTGGAGGTTATGGCGTATAGACTCTCCAGAATCTTCCACCCTTCCTCCTCTTATCGGTTTTCCTGATTTCAGGTGGCTGAGCAGTAGGGAGGAGAGGCCTCTGGGAACGCTGTGCTTATTAAGAACCCAGTGATCAGCAGTCATGTTCATTTACGCCCGTCAGTTTCATCTGAGGGGTATTTTGATAGTGATCTCTTGGTGAGCCGAGGGTGTCAATTAACTGCTCAGTGCTGAAACTGAGTGGTGCATAATTCATTGCAATTTCACTCTCCTGGCCTCCTTCCACTAGATTAAAGTTTTGGGAGGGCTTTGGTGTTCCCTGATTCAGATGTCCCGCGTGCTGCCTTGGGTTCTGATAAATGCATACTGGTACCTCTGTTGAGTTACAGGTGCCAACAGAAAACCTCTTCTTGCAAGCTGACCTCTGAGGGAGAATTCTGTTACTCACTAGCAGGAGCTTGGCAACACCAAAAAGATTTCCTTTTTT
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Task1_train_13354
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A variant was discovered in gene POMT1 (protein O-mannosyltransferase 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACAAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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Task1_train_13355
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Consider a variant on Chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACAAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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Task1_train_13356
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A mutation found in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACAAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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Task1_train_13357
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Located on Chromosome 9, this mutation impacts POMT1 (protein O-mannosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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CAGCAGCCCGGCTGTGCTGTGGTTCTCCTCGTGTGTCCGGGAGCCGGGTGGCTGGGGATCCCTTCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACAAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGT
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Task1_train_13358
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The gene POMT1 (protein O-mannosyltransferase 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTAGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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Task1_train_13359
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A mutation found in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTAGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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Task1_train_13360
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Here’s a variant in POMT1 (protein O-mannosyltransferase 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTAGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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Task1_train_13361
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A mutation in POMT1 (protein O-mannosyltransferase 1), located on Chromosome 9, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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TCTGTAGCCTCTCGTGAGCCCTCATGGACCACGGCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTAGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC
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Task1_train_13362
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Given a variant located on Chromosome 9 and affecting POMT1 (protein O-mannosyltransferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
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GCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTG
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GCTCCTCCCTTCTTTTCTAGGGCGTCTGCCTGAGCCCGCTTTTCTACAAGATGTGGGGATTTTTGAAGCGCCCTGTAGTGGTGACGGCTGACATCAACTTGAGCCTTGTGGCCCTGACTGGGATGGGGTTACTGAGCCGGCTGTGGCGACTCACCTACCCGCGGGCTGTGGTGTAAGCTAAATGACTCCATTCCCAGGGTGAATCTAGAATTGTACTTTGTGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGAGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTG
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Task1_train_13363
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This sequence variant lies in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGAAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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Task1_train_13364
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Given this variant in gene POMT1 (protein O-mannosyltransferase 1) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGAAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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Task1_train_13365
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The gene POMT1 (protein O-mannosyltransferase 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGAAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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Task1_train_13366
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With a mutation on Chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGGAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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TGACAGGAGGCGCCCTTACTGAATAGCATAAATGGGAGAGTGAAATCCTGGCTTCTTGGTGATAGGTGTTTTTGGCAGTGAGAGGAGAGACCAGTCTGTCCCCAGGACAGCCCCAGCAGAGTACACCTTTTAGGTCTTGCCTTCTGAGTCTGTAACAGGTGAAATTTGGCCCATTAAAGGGGTGCAGTAGAGGAAAATCTGGTTGCCAGCCTTAAGTAACAGTTTTAAAGTCTGGACGGCAGAGGATTAATGGATTTGGAAGTAAGTCTTCACTGTTGAGAGCACTTTTTAGAATGTGTTTTTGTCATAATGGGAAGTGATTGCTGTTATTATTGAAGGGCTCTTTATTAACTGATTAATGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGGTTGGAGTGCAGTGGTGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGATTTCACCATCTTGGCCAGGCTGGTATTGAACTCCTGACCTCATGATCCACCCACCTGGGTCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTCCGCCCTGCTGCATGTTCTTTTTTGTTTAACTTTTTATTATGGAAAACGTCAAACATATACAAAAGCAGGGAGACAAGTATAATGAATGACCCCCCCACACACACCAGTATTTTCATTACCCAGCTTCACCTTATCAGTTCACAGCCAGGCCCCTCCCTGCAGTGGTTTTTACTTTGCAGCAAATCCTAGTATTCATAGATAATTCAGCGGTATATCTGTAAAAGATGAGGATTTTTTTTTTTTTTTTGGAGACATAGTTTTACTCTGTCGCCCAGGCTGTAGTGCAATGGTGCGATCGTGATTCTCCTACTTCAGCCTCCCGAGTACCTGGGATTACAGGCACCTGCCACCACGCCTGGCTCATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTGGCCAAGCTGATCTTGAACTCCTGACCTTGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCTGAGGATTCTTAAAAACAAAAATCACATAACCACAGTTGCATTATCATGCCTGAGAAATTGACAGCAGTTTCTTGGTTATCTTCACCTCTCCCTGATTGAAAACATGTTATTGCAGTTGATTCCCACGTTTTCCTTTCATACTTGCAGCCGTTTCATTGGGTCATCGCTAGCCACAGACATGTGCTGCTGGTGGGGGCGGGGGTGGGGGGGTTGGGTAGGTGGGTAAGCAGGATTAGCCTTGCGTCCCAGGAGGTCTTTCAGCAGGTTGGCTCATAGTATCCACCTAAATCAAACACAAGGGAGAGACAGAATCTGTATGGGCAGGCATGCTGAGTGCCAGCTGTGCTTGGTGAATTCCCCATGTCTCTGTGGGTGGGTGATGCTGTATGCATCTTAATATTTGGGGATGGGAAACAATTGGGGCAAAAGATCCAGCCTTTGCTGATCACTCACTCAAAGTCATTTGGAAACACATACACATTTATCCTCACAGTTTTTGTTTACAGTTAAGATTCTAATTGAATATAATATGGGTTGTTGTTTTTTTTTCTAGTTTTGACGAAGTATATTATGGGCAGTACATCTCTTTTTACATGAAACAAATCTTCTTCTTGGATGACAGTGGGCCGCCATTTGGCCACATGGTGCTGGCCTTGGGAGGTAGGAGTCATCAGGAGAGTAGCCCCTACCCTTCAGGACCTCAAATACATTTAAAACTTATCAGTGCATTTCTTACAGGCAGAAACCAGGTCTTATTATTGATGCATCTTGTTTATTGCTTGCCACAGTACTCTAGAAATATTTGCTGAATGGGATAGTTACTGATTAATCTTCTGTTTCAGGTTATTTAGGAGGATTCGATGGCAATTTTTTGTGAAACAGAATTGGAGCAGGTAAAAGATAATTTTCATTTCCCTTTTAATGTGCGCAGGTTAGAATGAAGAGATTGTGACTTTTGTAAGGATTAACAACTGTGGCTTTTTTTTTCCTTTCATACCTAGTCCCACAGAAACTGTGCCTTATTAATCTGAGTCCAGAAAATAATAAATTGGTTGGATACAAATGAAAGACTTCTGGAAAGTCTGGTTAAAATCTTACTGTTCAGTTGCAGTCATTATTTCAGCCCTTGTCGTTGGTACACGTATCACAGAGCGTCTGATTGTGATGATCGGTTGTACATGTGAATTTTGTCCATTGCCACAATGTTTTTGAAAATAGGGAGGGTAGGCCGGGCGCGCTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGACGGGTGGATCATGAGGTCAGGAGATCGAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT
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Task1_train_13367
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Located on Chromosome 9, this mutation impacts POMT1 (protein O-mannosyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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GAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCC
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GAGACCATTATGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGGATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCC
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Task1_train_13368
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The gene POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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CTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACG
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CTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAAGGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGATGAGATGGCGCCACTGCACTCCGGCCTGGGGGACAGAGCAAGACTCCGTCTCAGAGAAAAAAAAAAAAAGAAAAAAGAAAACAGGGAGGGTAAATATGTATAAGTAAGGCGGTAAATTTTAGAATCCTTAGTCCTGTCTATGCTTCATGAGATCGGGTTCCATGACTATGCAAAGCTAATTTCAAAGCCTTCACCCATAGTTTATGCACTCTGCTGCTGATGGGGTCCCCAGTTTTGTAAACGTGCATTTTAGAGTCTGTGAACATGACGGCGCTATGTGAAAGCATAGCTGCAGTACACAGAGATGGTGTGTGCACAGTGTAGTCAGCTCTGCAGTGTGGTTGCTTTTCCAGAATACAGTAGCAACGTGCCTGTGTGGTCCCTGCGCCTGCTGCCAGCACTCGCGGGGGCCTTGTCGGTCCCCATGGCCTACCAGATAGTGTTGGAGCTCCACTTTTCTCATTGTGCCGCCATGGGAGCTGCTCTGTTGATGCTTATCGGTAAGACCTGCGCCCCTGCCTGCTCTTGCTGTCATGCAGGGAAGAACTGACCCTTTGGCCCGGAAGATCACATGGGCTTGGTGGGCGAGCTGCACCAGAAAGTGCATCTGGTTCATCCAAATTTGACGCTGCAAGTCACCCGCTCCCAGGCTGACCCCGTGGTTATGGGATTGCTGAATTGTGGGATCAGACTCTTATCAGCAGTCGGGGTATGGCAGTAGAAAACTGCCCAGATGCTGCTGCAAAGTCCATGCACACGTGGGCACCTCCATCTCCAACCAATCTTGTGACCAAATGATAACTTCCCCTTGTTCCACCACCTCCCAGGCCTTGGCCAATTGAGATGGACTCGTGAGTCAGTGGATCCTCTTCAGAGAGGGTCTTCCAGCTCACGTTTATGAACAGATGAAATTAAAGCAGATGAAAAGTTAGATTAGGCTGGGCGCAGTGGCTCACACCTATAATCCCAGCACTTTGGAAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTAAAAATAACGAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTGGCAGTGAGCCAAGACTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCAATCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACG
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Task1_train_13369
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An alteration has been detected in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Myopathy caused by variation in POMT1
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCTGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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Task1_train_13370
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Here is a genetic alteration in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCTGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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Task1_train_13371
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Consider a variant on Chromosome 9 in gene POMT1 (protein O-mannosyltransferase 1). Determine its clinical classification and disease relevance.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCTGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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Task1_train_13372
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This variant affects gene POMT1 (protein O-mannosyltransferase 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCTGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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Task1_train_13373
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The variant affects gene POMT1 (protein O-mannosyltransferase 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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AAAAAATAAATAAGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAAGAGATCGAGACCATCCGGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCTGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAG
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Task1_train_13374
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A genetic alteration is present in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCTAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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Task1_train_13375
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A variant affecting Chromosome 9, within the gene POMT1 (protein O-mannosyltransferase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCTAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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Task1_train_13376
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This mutation is located in gene POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCTAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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Task1_train_13377
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The variant affects gene POMT1 (protein O-mannosyltransferase 1), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Abnormality of the musculature
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCTAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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Task1_train_13378
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A genetic alteration is present in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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AAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACCCACCTTTTGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCAGCCTGGTGACAGAACAAGACTCTGTCTCAAAAAAATAAATAAATAAAATTAGCCAGGTGTGGTGGCATGCGCCTATAGTCCCAGCTACTCAGGAGCCTGAGGCAGGAGGATCCCTTGAGCCCTGGTGGTCAAAGCTGCAGTGAGCCATGATGGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCTGACTCAAAGAAAAGAAAGAGACAGTAGAAAATCAAAAGAGATGTGTATTGGGTGATGACTGTATGAGGCCTTGTGTCTATAGAATGTTTTAACATTCACAACAGCCCCACACAGTTGTATCGCTTCTGAAGTAATGCCTTTTTTCATGAGTGTTTTTCATCCTCATACGTTTTCCCTTGCTACCTTAAAATTGACATGTGTTTCCTCTTTGAAACAGAGAATGCTCTCATCACTCAGTCAAGGCTAATGCTTTTGGAATCAGTGTTAATATTTTTCAATCTATTGGCCGTGTTGTCCTACCTGAAGTTCTTCAACTGCCAAAAGCACAGGTATGGAAAATGGAGTGTCTTCCTAGTTAACGAGAACAGAGATTCTGGGTGGTTTGTTGATCTGAGATGGTCCAGTACCTTTTTTTGTTTCGTTTTGTGAGACAGTACCTTTTCATTTTGAGGAGTTGCTTGCTAAATATCTTTTTTTTTGAGACGGAGTCCCTGTCACCCAGGCTGGAGTGTAATGGCGCAATCTCGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTCCAGCCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACACAGCACCATGTCTGGCTAATTTTAGTATTTTTAGTGGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGTCTTGGCCTCCCAAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCTAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACAT
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Task1_train_13379
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Mutation context: Chromosome 9, Gene POMT1 (protein O-mannosyltransferase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCG
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AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTAACCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCG
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Task1_train_13380
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Consider this mutation in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Is this a benign change or a disease-causing variant?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCG
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AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTAACCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCG
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Task1_train_13381
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Chromosome 9 houses a mutation in gene POMT1 (protein O-mannosyltransferase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCG
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AAAGTGTGGGGATTACAGGTGTGAGCCTCTGCGCCTAGTGCTAGATATCTTTTGGTCCTCTAATATTTTGGGGGTTGGCCCTTGGCTTGTGACTTCATAAATACATCTTCATTTTTCTATAATTTAAACTAACAGGACAACATTTTCTGGGCAAAAAGAAAAATTCTGCTGGGATGGATACTTTGGGAGATGGGAATTCTTTCTTACTGCCCCTGTGGCTCAGCATGGCCAGCCGACCCAGAAAGATTTCTCTGAAGAATGTGGAGCTTCACTAGCCTTTTGGAAATGTGTCTGAACTATTTCTGTCTCCATCTGCTTTGTTTTTATTCCAGCCCTTTTTCTCTGAGCTGGTGGTTCTGGCTAACACTGACAGGGGTCGCTTGTTCCTGTGCAGTGGGGTGAGTTTGAGCCTCTGGTCTTGGGCAGTGTCCTCCTCCATCTCCTTATGTTTTCCTGTCTCATGTTAACTCCATTTCTGTCATGTCTTTGCAGCATCAAGTACATGGGTGTGTTCACGTACGTGCTCGTGCTGGGTGTTGCAGCTGTCCATGCCTGGCACCTGCTTGGAGACCAGACTTTGTCCAATGTAGGTGCTGATGTCCAGTGCTGCATGAGGCCGGCCTGTATGGGGCAGATGCAGATGTCACAGGGGGTACTTGGTGAAAAGACTCCAATCCTCAATGTTTTAGAAGCAGGCAGGCCTGGGCAGCCTCGCCTCTTGGCCTCTGCAGGTGCCTCTGTATGGGAGGCCAGAGTTTCTGTCACTAACTTTTTCTAAGCTCACAATGTCTAGAGGTGGGTACGCTTTTCCACGCAGTGGAACATGACTTTTCTTTGAATCTCTGGCAGGTCTGTGTGTTCTGTCACTTGCTCGCCCGAGCAGTGGCTTTGCTGGTCATCCCGGTCGTCCTGTACTTACTGTTCTTCTACGTCCACTTGATTCTAGTCTTCCGCTCTGGGCCCCACGACCAAATCATGTCCAGTGCCTTCCAGGCCAGCTTAGAGGTAAGTAAGCAGTGGGCATCGTGGCCACTGGAGAAGGAAGATGATAGTGGACCCAGAGTTTTCTTACAAACACATCAAGTGAACATTAGCACTTGAATCAAAACATGAAGAATCCACATCCATATTTCTTTTTTTGGTGGGGGGGATGGAGTCTTACTCTGTCACCCAAACTCCGCCTCCTGGCTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGTATTACAAGCACCTGCAACCACACCCAGCTAATTTTTTTGTTTTGTTGGTAGAGATGGGGTTTCACCATGTTGGTCAGTCTGGTCTGGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCGCCTGGCAGCTGGGAGCATTTTAAAGTCAAGTCTTACAAACCCTGGGCAGTTTCACCCGCCTTAAGGACCACACTCAACTGTGACCTTCATTCCTATGAACCTCGCAGCAGTGGTAGAAGGTATCAGTAGAGGTGGTCAGGACTGTGGTTCCTGAAGTCAGCCAAGCCTGCCGACGGCCAGTGCTGTAGTGCTGTGTGTTTCAGCAAGTTGTTTGGCTCACCCTAGTCTTGGTTTTCTCATCTCTTAGACAGACATCATCATTGCTCTTACCTCATTGGATGCTTGTAAGGACTGAATAGGGTGCGCGTGGAAGGCTGAACTGAGTGCCTGGCCCAGAGGCAGCATTTGATCAGACTTAGTGCTCATTATGGTTCTATAATGTAACGTGATGTGATTAAATGGGAGATCATTACCACTGTTACAAGAATGGCCACCAGCCTAAACATCACCCCAGAGGGAGGAGTGGCCATCGGGAAGGCTGGCTTAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTAACCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCG
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Task1_train_13382
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This genomic variant is located on Chromosome 9, within the POMT1 (protein O-mannosyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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TAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACACGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCTGGAAGCTCGGGCACGAGTGGAGCCGTGAAGGCTTCTTCCTTCTCAGTCCTTCGTCCTTGTCCGACTTGCCTTCCCGTGGTGCTGGGCACAGTTGCTCACACCCTCCTCCTTCCTCCCTGACTGCTCTCTCCACCGCCTCCTTTTCCTCTGTTGCTCTCAGTCTCTGAGGGCCCTCCGGCCTTGCTGCCTCTGCACAGGCCCAGTCCCGGGGCTACCTCTCCTGGACTTCCACCCGGCTGCCCGGGGCTCACCTCCAGCTCTCCACGACTCCCAGCTCCACAGGGGCGGTCTCTGGCCCTGGCTTTTCTGGTTCTCCCTGGAAAGGGCCCAGTAGCTGAGGCATCACCTGACTCCTTCCCCTCCCCTCCCATTGCATGTTGATTCCATTGGGAGATCCTGTTTCTCAACCTTCAGAACCAGCCCTGGGTAGGGGTCCTTCCTTCTCCCTCTACTCCCACCTCCTGGGGCCTGACCTCTCTACCTCGCAGCAGCCTGTCCGGCCTGCGGACCGTGCACAACCCACTTGCGTTGTTCCTCTGTGCTCAGTGACTCCCGTCACCCGCCAAGGTCCCTGGTGACCCTGACACACTTCACCCCCGCCACCCTGGCTCCCCCCAGCCCTGAAACAACCACCTGCGGGCCCCTTGGGGGCTTCACACTTGCTCCCTCTGCGAGAATGTTCTTGGACTTGGCTCCCCCATGGCCCCTCTATGTAGGGGTCTGCTGGGATGTCACTGCATCCAAAAGTGCCTCCTGGGTGCTGTCCCCCACCATTTGTTTTATTAGTGGCACTCCTACAGGTGCACGCTCTGCCCACCGGCATGATGGCTGTTTCCCAGAGGGCTGTGAGGGCCTTGTCTTGTTCACAGCTGGGTGGCTGCTCCTAGACAGTGCCAGGTGCATGGTGCGGTACCACATGGTTACTGAGTGTGTGGATTAAGAGGAAGTGGGTGTTCCTGACCGGGCGTGCTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATTTGAGGTCAGGAGTTGGAGACAAGCTGGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTAGACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATCGCGCCATTTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAACAAAAAAGAAGTGGGTGTTCGTTAACATTGAGGTTGATAGCCTTTTCTCCCAGCTTATCTGCTGCGTCCCCAGGCCAGCTGGGCGCAGGGGCGGGCAGCTCAGCCCTGCAAGTTGTAGCATTGGTACTGCCAGCTGGCATCGCAGCAGTACCGGATCGGGCCTGGGCGCACGGTTCCTTCCTCTGAAACTTGGTTCGCTCGTCTAACAGGTGGAAGGTTCCACAGCAGAGTGTCCTTTTCTTTTGGAGATGTTCCCACAGGGCCTCCTGCCTGTTTAGTGTCCACTCCCATCGCCGAGCCTCAAGACCTCCGTCCTCAGTAGCAGCAACTCATGGGACTGGGCCACCCCTTATGGCTGAGCCGGCTTTGTTTCTGAAAAGCAACCTTTTCCTGCCTGAAAGATTTAGTAATTGCCTTC
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TAGGGTCATTTTTCTTTCTGTCTCTCACTCATCAACCTTCTGCTTCTGTCTCAGGGAGGACTAGCTCGGATCACTCAGGGTCAGCCACTGGAGGTGGCCTTTGGGTCCCAGGTCACTCTGAGGAACGTCTTTGGGAAACCTGTGCCCTGCTGGCTTCATTCCCACCAGGACACCTACCCCATGATGTAAGGTGATGGTTTTACTTTGAAGATAATTAAATGCTTTATTTGCTCGTAGATTTGCTTATCTTAGCAACTTTCCCTTTCTTTGAGGAAGTTTGTTTGCAGGACAGAAAGAAGTTGAGCAGCCCGGGTGCTGATTGCCAGTGAGCTTCGTGGTTCCCGGGTGTTGCTGGAGGGACTTGGCGTGTGGCAGGGCCCAGGGTCGGCCCCAGCTCTGTGGCTGTGGCTGACCTCAGCACTGCCTGCCTGAATCATCTGATTTCGGCTCCTTGTCTGTGGTATCTTCATTTTCCCTGAAACCCCTTGCTAGGTTGTATTTGTTGAAATCTGCTTCCCTTTGCAGAAACTTTAGGAGAAAGGCGTGTGGGCCCGATCGATGACCCACTTCCAGATACGTTTCTTTCCCTTTCTTTTCTTTTTCTCATAAATAGACACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAGTTATCCTACCTCAGCCTCCCAAAGTGCTCTGATTACAGGCCTGAGCCACCGCGCCTGGCCCAGATACATCTCTTTGTTGACTTCACACAGATATGAGAACGGCCGAGGCAGCTCCCACCAGCAACAGGTGACCTGTTACCCCTTCAAAGATGTCAATAACTGGTGGATTGTAAAGGATCCCAGGAGGTGAGTGCAGGTCCTGTGACTCCAGAGCAGAGCTCACCTCCTGGCCTGGCCAGGCGAGACCCTGGGATGCAGTCCTGGGCCCCCTTCTTTCCCTCCCTCACTGACTCTAGTCACCGTCATGGCCTTGAACACCAGCTCAGTGCTGAGTCCAAGGTCAGAGGAATAGATCATGAGACCCTCAGTGAGCAGCCTGCTCAGTAGCTGCTCTGAGAAGTTTCCAGGCGAGCCTCAATGCCCCGACCTGTGTCCCTCTCCCTTCCTCATAAAAACAAGAACCCCCCTCCTGCAAAAGTAGCATCATCTTGCACACATCCCAGCTAGAGGTGCCCCTTGCTCTCATTCCCATATCCAGTCCTGTGGATTCTGCCCCCAAACAAGGTCTCTAGCTGTCCCGGTCACTGTCTCCTGATGGTGTCCTCCCATTGCTGCCTGCCCAGCTCCAGCACCTGCAGCCCGAGTGGGCTTTTTCTTTTTTTTCTTCTTATTTTTTCGGGGGACAGAGTCCCACCCTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGATAAGATTACAGGCGCCCACCACCACATCCTGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGGTCCACCCAGCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCACGCCCGGCCCCCTCATACACTTTCATTGGTGGAATGCCCTTCAGAAGGATTCCTTGGCAGTCATGGTACATTTGTCACTGTAGTGTTTGTAGACAAATTCAGAGCAATGCAGGTGTGATGACCGCGGGTAGAATCACATTCGGAAAATGACCTTTGGTTTCAGAAAAGAGCCCAATTAATGTCTGTGCTTTGGTTTCCTGTGTTCACCTCATGTGAGGCACACATGGGTTGGGAGGCAGTCTCAGCCATGAGAATTCAGAGCTGTGCCCCTCCGGTGCAGCTGTTAGTTCGAGGGGACCAGGCTCTGTGTGGTCCCGACAGCACTGTGTCTTCCAGGCACCAGCTGGTGGTGAGCAGCCCTCCGAGACCTGTGAGGCACGGGGACATGGTGCAGCTGGTCCACGGCATGACCACCCGCTCCCTGAACATGTGAGTGTGCCCGCCGTCTGCTCTGCTGCACCTGTGGGTTTCCTCTGTGGTTCTCTGTTCAGACCAAAACGTGAGCCCTGCCTTGGGCCGCTGCCCCCTGTCTACCCATCATCTGCATGTGTAGCAGCTCTTAGACCTACATTTGATGCCGGGAGGGGACCCAGGCCTGGCCGCGGAAGGGAGCGGGGTTAAGAGGAAGCAGGGGCTCTGTGAGGACTGGACAGAAGCACCTAGCACAGCCCATCCTAGGAGAGCTCAGGGCCCCGTGGATGAGTGTACAAGGACAGGCTGGGAATGTTGACCCGCTTTCTATGCAGAGAATGGAGTTTGGGCACACCTCCTTAAAGTGGTCAAGCTTAAAGTATGAGTGAGTCCAAGAAGCCTGGAAGCTCGGGCACGAGTGGAGCCGTGAAGGCTTCTTCCTTCTCAGTCCTTCGTCCTTGTCCGACTTGCCTTCCCGTGGTGCTGGGCACAGTTGCTCACACCCTCCTCCTTCCTCCCTGACTGCTCTCTCCACCGCCTCCTTTTCCTCTGTTGCTCTCAGTCTCTGAGGGCCCTCCGGCCTTGCTGCCTCTGCACAGGCCCAGTCCCGGGGCTACCTCTCCTGGACTTCCACCCGGCTGCCCGGGGCTCACCTCCAGCTCTCCACGACTCCCAGCTCCACAGGGGCGGTCTCTGGCCCTGGCTTTTCTGGTTCTCCCTGGAAAGGGCCCAGTAGCTGAGGCATCACCTGACTCCTTCCCCTCCCCTCCCATTGCATGTTGATTCCATTGGGAGATCCTGTTTCTCAACCTTCAGAACCAGCCCTGGGTAGGGGTCCTTCCTTCTCCCTCTACTCCCACCTCCTGGGGCCTGACCTCTCTACCTCGCAGCAGCCTGTCCGGCCTGCGGACCGTGCACAACCCACTTGCGTTGTTCCTCTGTGCTCAGTGACTCCCGTCACCCGCCAAGGTCCCTGGTGACCCTGACACACTTCACCCCCGCCACCCTGGCTCCCCCCAGCCCTGAAACAACCACCTGCGGGCCCCTTGGGGGCTTCACACTTGCTCCCTCTGCGAGAATGTTCTTGGACTTGGCTCCCCCATGGCCCCTCTATGTAGGGGTCTGCTGGGATGTCACTGCATCCAAAAGTGCCTCCTGGGTGCTGTCCCCCACCATTTGTTTTATTAGTGGCACTCCTACAGGTGCACGCTCTGCCCACCGGCATGATGGCTGTTTCCCAGAGGGCTGTGAGGGCCTTGTCTTGTTCACAGCTGGGTGGCTGCTCCTAGACAGTGCCAGGTGCATGGTGCGGTACCACATGGTTACTGAGTGTGTGGATTAAGAGGAAGTGGGTGTTCCTGACCGGGCGTGCTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCATTTGAGGTCAGGAGTTGGAGACAAGCTGGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCCTGTAATCCCAGCTAGACAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATCGCGCCATTTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAACAAAAAAGAAGTGGGTGTTCGTTAACATTGAGGTTGATAGCCTTTTCTCCCAGCTTATCTGCTGCGTCCCCAGGCCAGCTGGGCGCAGGGGCGGGCAGCTCAGCCCTGCAAGTTGTAGCATTGGTACTGCCAGCTGGCATCGCAGCAGTACCGGATCGGGCCTGGGCGCACGGTTCCTTCCTCTGAAACTTGGTTCGCTCGTCTAACAGGTGGAAGGTTCCACAGCAGAGTGTCCTTTTCTTTTGGAGATGTTCCCACAGGGCCTCCTGCCTGTTTAGTGTCCACTCCCATCGCCGAGCCTCAAGACCTCCGTCCTCAGTAGCAGCAACTCATGGGACTGGGCCACCCCTTATGGCTGAGCCGGCTTTGTTTCTGAAAAGCAACCTTTTCCTGCCTGAAAGATTTAGTAATTGCCTTC
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Task1_train_13383
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Here is a mutation in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTCGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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Task1_train_13384
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This alteration in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTCGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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Task1_train_13385
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Here is a variant affecting POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTCGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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Task1_train_13386
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This mutation occurs in POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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CTGCCACCATGATCCAGGAGAAATTCCATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTCGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATC
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Task1_train_13387
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This variant affects the gene POMT1 (protein O-mannosyltransferase 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
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CATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCGGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCC
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CATTTCTCAGGATTTCCCTGGGGACAGGCTTAGCCGTGAGTGCGGGGGATGTTCCTGAGGCGCTGGGTCTGTGGTCACCTTTCCTTCCAGCGACCAGGGCCACCTGCTCCCCTTACGGAATCGGGTCTCCTGGGAAAGGTTCCATAAAAAGTCTTCTGTTACTGGACCATGTTGCCATCTGAATCTAAGGACATGGACACTAAATGCAGCCCAGCCCCATGACCACAGTGAAGGCACTGGGCTTATTTCCATAGTGAGGTCACACCCCCCCTTCTAGCTTCCCACTGGCTTCAGCGCTTTCTGCCTACGCAGGCTCAGCCCTGTTTCGCTTGACAGAGTTAGCACCACGTCCTCATGGCCAGCCCTCACAGCAAAGCCAGGTATCTGCTGATGTTCTTTTTTTTTTTTTGCGACTGGGTCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGCGTGATCTTGGCTTACTGCAGTGTTGGCCTCCCAAGCTTAGGTGATCCTCCCACCTCTGCCTCTTGGTATTACAGGTTAGCCACCATGCCTGGCCCCTGTTAATTTTGAATATTTAATTTTTAAAATATTTTTTCTATTCCAGGACAGTCTGATTTTTAAAATTTTTTGTGGAGATGGGGTCTTGCTATGTTGTCCAGGCTGGTCTTGAACTCCTGGACTCAAGCCGTCCTCTTACCTCAGCCTCCCAGAGTCGCTGGGATGACAAGTGTGAGCCACTGCTCCAGATTGGCTGTTCCATTTTTGTGCAGAGTGCGCCCCTCTGCCCCACTCGCCGTCTCTGTGCTCTGCATATCTGTGTGCGTTCTGCATTTCCATCCCCGCCCCCCCACAGTCCTTCCCTGACGTGAGTGCTGTGCCCCTTCTCACGGGCACCCTTCTCTGTCCTTTCTGATGGCCCCTTTGGCACCAGGAGCCCACATTTCAGGTGTCTGAAGTTCATAGAACAAGGAAGGAGGGAGCATGCGTGAGGTGTGCGCGCCCGGCCTGCGGCATGGACCGCGGCCAGGCCTCCTCATGCCTGCTCCTGCCTAGCTTCTTGGGTTCTCTGGTTGTGACAGTATGGGAAAATGACAGTCATGTGATGTCATGGGGTCATTGTGAGGCTCCAGTATGTCAGGCTGTGACAAGGCAAAGTGCCTTTCAGATGTTAGTTGTCTTTTTTATTACTCGATGCGAGGAAATCTCTAAGCTGTGTCTGGCAGGGACAGTGTCTGGCCTTCATCTGAGCTGTCTGCGAGTCCTGCCAGATAGGGACTGAGACTTGCTCACTTTTTGGCCAGGGCTCTGAGCCCTATGAATAGGCTTTGCAGAGAGGCACGAAGAACATCAGGCTTTGTATTTTCTGTGAGGAGGCCTCTTGTACGGCCTTGGCGAGGAGGAGGGTGCACTTCCCCAGCGACCCTCGGAGCAGCCCGGGGTGCTGTGGGCATTGGGAAGGAAGGCCAGTACCAGCCCCTTATAGCTTCCCTCACTTGGGGACTTGTCCCTTTGTCTCAGGCTCAAGTCAGTATCATTGTTTGGTGACAGGTCTTTATTTTTACATTGAAGGAAATTTGAAAAGGAATGAAATAATCCTTGAGATGTCTTTTTGCAGGAAATTGTGAACAGAGGATCTGACACAGACGTCTGGAAGACCATCCTCTCAGAGGTCCGCTTTGTGCACGTGAACACTTCCGCTGTCTTAAAGGTAAGGACACTGTCCGTGGCTTGGCCTGTCCTGAGCTGTGGGCTCCAGTCTGTTTCCCAAGCCCCTCAGGCTTCACCGCCTCTCTGCAGGCGGAACGCTTCATTTGAGTCATCATGGCTTCCTCTTACACTGAGGGAGGGCGGCTTTTGTAACTTCTCAGGATGGAATCCCAATGTGAATCTCCCACAAGGGGCACCTGCTGACAGCGTGACCCGGGCAGGGGTTCCCCTTCCAACCCAAGTGGACACGGGAGCCACGGCCTTCCCATCACGCCCTTTACTCTCCTGCGGTGTCACCAGCTGAGCGGGGCTCACCTCCCTGACTGGGGGTATCGGCAACTGGAGATCGTCCGGGAGAAGCTGTCCCGGGGCTACCACGGGAGCACGGTGTGGAACGTGGAGGAGCACCGATACGGCGCGAGTGAGTCCGCGGCGTGGCTTCCGCCGCTCCTGGAATGTACTTTCAGCTGCTCAATATTTGATAACACCCCAGAGTTCTCATTTTGGTGGGAAGGGAACTGAGCACATTCTCCATGCTCGGTGGCAGGTCATCTCCCTCCCTGCACCCTGCACTCAGCTGCTGCAGTAATAACTCAAGACGCTTCTTCCGAGGTGTCGCTGGAAGGCAACCAGTTTATCCCCGTGCAAGTGGAGCTTTCTCAGGGTCGAAATCACCTCATTTGACCGGGCAGTCTTGGGTGTGGTGGGGAAAGCTAAGTGGAATGATGCGGTTCGATAAGGGGTCTTTGTTAGAAAGGCAGGAAGCCAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCC
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Task1_train_13388
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A change on Chromosome 9 affects gene POMT1 (protein O-mannosyltransferase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2K
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCACATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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Task1_train_13389
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A variant found in Chromosome 9 affects POMT1 (protein O-mannosyltransferase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCACATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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Task1_train_13390
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Here is a variant affecting POMT1 (protein O-mannosyltransferase 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Walker-Warburg congenital muscular dystrophy
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCACATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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Task1_train_13391
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Gene POMT1 (protein O-mannosyltransferase 1), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not specified
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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CAGCTTTTTGCTGCACTGACAGCTTCTGCTCTGAGCTCTTGACCTTGTGCTACTTCTATCTGTTATGCCCTTGTCTGTTCTGCCAGGCCAGGAGCAGAGGGAGCGGGAACGGGAGCTGCACTCACCTGCGCAGGTGGACGTCAGCAGGAACCTCAGCTTCATGGCGAGATTCTCGGAGCTGCAGGTGAGGAGCGGCCAGGGGAAGCTGGCCTAGCTCGCTGAGCATTGACTCCTCAGCAGGGAGGCCTGGGGGCTGCACAGGACTCAAACCAGAGTCAGGCTTTGACGCTGGAGCTACAGGCTCACAACAGAATGAGTGTCTCCTCTCTCCAGTGTAAGGGACTGTGTGTGACACCCCTGGCCCACACCTTGTGGCCCTGTGGTCAGGAATAATAGGGACCCAGGAGGTTCTGCAACATCGCCAGGGTGTCTTAAGGCCCCCAGGCAGCGAAATGGGCCACACTCAACAGAGCCCAAGAGAAGTCACAATCAGAAACTCACGGTCACAAATCTGAACGTGACCTTAGAGAGCATTCAGCCCAATCACTTCGTCTACAGAGGAGGTAACTGGAGCACATAGGGTGGGGCGACCCTCCCAAGGCCACATTCAGGGCTGGAATCCAGGTTCTCATCATGCTGCCTCCGATGCATGATCCGAATGAACTTGAGCTGGGCCAGTCCACGTGCAAGGGGCAGCAGTGTACTCCTTTGACCAAATCCACGCACAGCGGGAGGCATCCCCCATCCTCAATCTCAGAGGCCTCTGCTTTGTTCCAGTGGAGGATGCTGGCGCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCACATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCC
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Task1_train_13392
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This variant lies on Chromosome 9 and affects the gene POMT1 (protein O-mannosyltransferase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
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GCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCCTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCCGAGAACCCAGGGCCAGCAGTGGAGCCTCAGCAGACCAGGGCCTGGTCCTTGCTAACTGCTGCAGGGTGGAGTTTGATCTGGCAGACCCGATCCTCCTTCATGAACACCCAGCAACCTGAGCAAGTCCCGGCCCTGCCCTCAGCGAGCCCGGCAGGCGTCCTGGGACAGCTCAGTGTTGGAGGGCCACCTGAACCACGAGCCAGGGCTGGGGCTTGCATGTCATTGTCTATGACAGCGTCAAGACTGGCCCTTGGCACCGTGCTGTGTGGAAACCCTCCCCTCTGAGACTCCACTGAGACGTGGCTGAGTGAAATCTTCCTCGTCAGTGGTCAAGGTGTGTCATCCATACAGCTCCATGCCTTTGTCTTTTTTAAATGTAATTAAAAAAGGAACCAACTGGCGTTTGTAGTTGGTGTTTGTTATTTATTGATTCTCCCTCCAAAGGGGCCTAAGCTCGACAAAACCGTTACAGTTGTCAGAACCCAGCCACAGGGCTCAGCCCCCTTCCCCCACGTCACGTCTGCATCACTACTGTGGGTGAGCCTGGACGGACGGGGGCTGGGGCTGCCCATGGCAGCGGCAAGGGATGCTTTCCAGAGACAGCCACCACGCAGGAGGGAGGATCACCCCAGGCAACCCAGACACGGGTGTTCACATGTGAGGCTGTGAGCTCCACATAGCACAAAGGAGGCTTGCTGACTTTGGGCGGCCATGTCTGCTGGGACCTGGGTGATCCAGTGCGTGCCACAGCCAGAAGCACCATTCCCTGCATATGGCCACTAGCCACCCTG
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GCTGAGAAGTGATGACTCGGAACACAAGTACAGCTCCAGCCCACTGGAGTGGGTCACCCTGGACACCAATATTGCCTACTGGCTGCACCCCAGGACCAGCGTAAGCGAGCGATGCTGACAGCTGACAGTCATAGATTCATCCTGTTTCTTGAGAATTCCTTGCATTAAGAGCAGCCGCTGCACCCTAGAAAGTGCTGGGTTTCTCCCAAGCTTTTCCTGACAAAGGCCTGTGACTTGGTTTTCTCTAAACGCTTTGGCAACCTGGAGCCAGGAGTAGGGGTGTGGCATGTGTGCCTGTTGAAGGAAACCCGGCTTGATTGCTTTTGTGGAGACACATTGTTCCCCTTTTCCTGGCGAAAGTGGTTTTAAGATATTCCCATTCAATTTTCCGTGTGGCACCTGGTGGTGGAGCTTACCGGTGCTTTGCTGATGTGCGTGCCGTCTCTCCACCCGGCAGAGTGAAAGCATTGGTAGGCCGGGCGCACAGTCAGCGCCCCATAAATATTCACTGAATGGGCAGACGCTGGAAATGCCCACCTTTTTCCTCCTCCCTCAGAGGCGGGTAGGTCGGCTCAGCATGTGCACTGAAGGCAGAGGCTCAGGCCCAGAGGCCGCCCCACCCCGAGCTCTGAGCGCACTTTGCATTCTCCTCCGTGGACAGCGCTGCTGTTACAAAGTGGAGTCATCTGCTCCCAATTTTCAGTTTCCAATTACAAAATTGAGAGCATCAGTGCTGTGTGTGTGTGTGTATGTGAGAGAGAAAGAGAGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAGTACAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCAAGTAGCTGGTATTACAGGTGCCCACCGCAATGCCCAGCTAATTTTTGTACTTTTTAATAGAGACGGGGTTTCGCCACGTTGGGCAGGCTGGTCTCAAACTCCTGACTTCAGGTGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACACCCGGCTGGCATCAGTGCTTTTAATGAAAGGTCTGAGTAGGAGCAGACCTGTCCACAGTAGTAGTAAGGCCTAGTGGATGCTAGGCTGTGCCTGGCGTTTTTTCACTCTGCTAAAGTAGTGCGTGCATCTGAATTCCTTTCCTGTGTTCTCTTCTCTTCCCTCCCTGAGCAGAGGGCAGGTGGCTAACAGCATCTCCCATGTTCCCTTAGGCTCAGATCCACCTACTTGGAAACATAGTGATCTGGGTTTCGGGCAGCCTCGCTCTGGCCATCTACGCCCTGCTGTCCTTGTGGTACCTGCTCCGACGGCGAAGAAATGTCCATGACCTCCCTCAGGGTTAGTACCTCTCCCACATGGCTTTCTTTCTTTTTAATATAGACATGGGGTCTTGCTGTGTTGTCCAGGGTGTTCTTGAACTCCTGGGCTTAAGCGATCCTCCTGCCTCGGCCTCCCATAGTGCTAGGATTACAGGTGTGCGCTGAGCATTCACCGCCTCAAGTGACAAACCGACTTCATAGGAACCTACCCCTTAACGCGGCCTCTTTGTTTCTGTATTGTGGAATCTTAAATTATGTTTGTCTCCCAAGAGACAAAATGTTAAGTTCCCATGTTGCGTTAGAGGTGTCTCCAGTCGAGTGCAGCGTATTGGGCAGGAATTGCCCTCTTGGTCCCATGTTGCCCGTATGCGCTGGAAATGGCTGGGTAACACAGGCAGCCAGGCCGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGAGGGAGTCACCTGAGGCCAGGAGTTCAAAACCAGCCTGGGCAACATAGTAAGAACCCTCTCTCTAAAAAAGCAAAAGAGAGAGAAGACCCGGCCTGTGGGAGCAGCAGAGTCGGTGTAGCTCGAGCCCTTTCCTATAGATGCCTGGCTGCGCTGGGTGCTGGCTGGGGCGCTGTGTGCCGGTGGCTGGGCAGTGAACTACCTCCCGTTCTTCCTGATGGAGAAGACACTCTTCTTCTACCACTACCTGCCCGCACTCACCTTCCAAATCCTTCTGCTCCCTGTGGTCCTGCAGCACATCAGCGACCACCTGTGCAGGTACGGGGGCTGCGGAGACAGTGGCTGGACCGGGCAGCAGCCCTCTGCTGGGAAGCCCATGCGCAGCAAACACATGGGGTGCAGCGAACCTCACCCATTTCACGTTACACTGACATCCTCCGGGTCCCTCCGGGGAATGGGTGAGGTTCAGAAGAGATGCCCAGATGAGGCACTGCAGGAACCCAGAGGGAGAAGTCGCGGCTGACAGAGATGAAAGCGGAGTGGGTGGGGAGACGGGGAGGGGATGAAGAGATGTGGGTGGCCTGGAGGATTCGGGAGCAGGGAGCAAGGCCCAGGAGCCTGGGGTGTCAGAAACGGCAGCTGGTTATGGTCGGGTTGTGTGGTGTGGTGGAGAGAACCCAAGAAAGCTTCTAAACCAGAGTGTGTTTGGAGGTTGGAGCAGAGGGCGAGGGCCTCCCGGTTTCAGGAAGCCACACAAGGGAGGACCGTGGGTTTGGGACCAGTCCTCTGGCATCTGTGTGGAGGTGGCCCAGCCACTGTGGAGGCCTGAGGAGTCATCAGGGGGCCCCTCTCAGTGCATCCAGGTGGGAGATGGTCATGGGTGGCAGGAGACAAGACACAGAAACCTGAAGGCAGAACCCCAGGCCTCGGGGGGTGACCGTGTGGACAGCAGATGCCAAGAGGGTGCCGGGCAGGGAAGCCGCAGTGGTCAGCCACCCTCCCCCACGCTGCTCTGACCTCTGCAGGTCCCAGCTCCAGAGGAGCATCTTCAGCGCCCTGGTGGTGGCCTGGTACTCCTCCGCGTGCCACGTGTCCAACACGCTGCGCCCACTCACCTACGGGGACAAGTCACTCTCGCCACATGAACTCAAGGCCCTTCGCTGGAAAGACAGCTGGGACATCTTGATCCGAAAACACTAGAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGATGAGGTTGAAGGGTCTTGGTCAATGTACGTAATGAGCAGGGTGGGCCCCACGCTGGGAGGACACGGGCTGGGCTGAGCAGGGCCTCTAGTGGAACACATGGGGGTCTCATTGAAAAGCTCTCTGATGAGCACCTCCTTTTGTGCAAAGTTAATTTTTTCTCGACAATAAAGATATTCCGTGTCTTTACCCCTGAACTAAGACACAGGGAGTATTTCAGAGGCCAGCGTAGGAGTCATTGACAACAAAAAGCCGAGAACCCAGGGCCAGCAGTGGAGCCTCAGCAGACCAGGGCCTGGTCCTTGCTAACTGCTGCAGGGTGGAGTTTGATCTGGCAGACCCGATCCTCCTTCATGAACACCCAGCAACCTGAGCAAGTCCCGGCCCTGCCCTCAGCGAGCCCGGCAGGCGTCCTGGGACAGCTCAGTGTTGGAGGGCCACCTGAACCACGAGCCAGGGCTGGGGCTTGCATGTCATTGTCTATGACAGCGTCAAGACTGGCCCTTGGCACCGTGCTGTGTGGAAACCCTCCCCTCTGAGACTCCACTGAGACGTGGCTGAGTGAAATCTTCCTCGTCAGTGGTCAAGGTGTGTCATCCATACAGCTCCATGCCTTTGTCTTTTTTAAATGTAATTAAAAAAGGAACCAACTGGCGTTTGTAGTTGGTGTTTGTTATTTATTGATTCTCCCTCCAAAGGGGCCTAAGCTCGACAAAACCGTTACAGTTGTCAGAACCCAGCCACAGGGCTCAGCCCCCTTCCCCCACGTCACGTCTGCATCACTACTGTGGGTGAGCCTGGACGGACGGGGGCTGGGGCTGCCCATGGCAGCGGCAAGGGATGCTTTCCAGAGACAGCCACCACGCAGGAGGGAGGATCACCCCAGGCAACCCAGACACGGGTGTTCACATGTGAGGCTGTGAGCTCCACATAGCACAAAGGAGGCTTGCTGACTTTGGGCGGCCATGTCTGCTGGGACCTGGGTGATCCAGTGCGTGCCACAGCCAGAAGCACCATTCCCTGCATATGGCCACTAGCCACCCTG
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Task1_train_13393
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Consider a variant on Chromosome 9 in gene MED27 (mediator complex subunit 27). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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AAGAAAGGATACAGCAAGTCAATGAAGCTGTGTGCTGGTCTGTTACTGGGAGTTGGGTAAAGGGATCGCCTATCACAGGCTAAACAATAAGACTTAAGGCAGGAGAAATGACTGCTCCCTTGGAATAGATGAAAGAAACGTCAAAGCAATGAAAGGCTGGTGTGACGGATTCACGTGTCACACAGGATTATCAAGACCAGGGTTTAATTGGCAGCATGTTTTTCTTTATTAGTGGTTAGTAATGATGTATCTTAGGAGCACTGGCATCTTGAATTTGACAAAGTAGGTGTGGCGTTTAATCTACAGCCACCCCTGGTCTGGAAAAGTCCTGCCTTACCCTGTGTGCCCCTCCCACTTCCCCGAGTGGGCCATCAAAGCACGACCATTCCTCCTGGGCAGAGGCCTTAGGTGCCAGGGCACGTGACAGTCACCTGAGGGCTGCTAAAGATCAGGTTGCTGGACCCCACCCCAGAGCATGTGTAATTCTTTCTTTTTTTGAGATAGGGTCTTGTTCTGTCTCCTAGGCTGGAGTGCAGAGGTGTAGCCTCGACCTCCCACGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGTCGCACACCACCACGCCTGGCTAATTTTTTCGGTATTTTTTTGTAGAGATGGGGCTTTGCCATGTTGCCCAGGCTGGTCTTGCACTCCTGGGCTCAAGTAATCCACCTGTCTTGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCCGCCTGGGGATGTGTATTTCTAGTAAGCGTCCACGGTGGCAGTGCTGCAGGTGGGATGCCACGTGGGCAGGCACTGTCCTAGAGCCCTCAGCACGAAACCCTCTCCATTCTCTGGCTCTTTTCGGCCAGGGGTGGCGGGGGGAAGGCTGGTGGTACCAGAAGCCAGGGAGGACCCACTGGTTCTTTTGGACATCTCAGAAGGTGTCATCTCTCTTGACGCTTTGTTCACGGCAAAGAGAACATTGTTCTAGCATGGGCCTGGCCAGGCTGGCTCTGGGCGATGCCACCACCCTCCTCAAGCCCTTCGCCAGGTCAACGATCTTCACAGAAACAGGCCATGTCTTTAAAAGTTGGTGCTGAGGCACTGAACAAAGTCGGGAGATGGGGCTGGGATCGAGTCATGGTAATATTTAGGACAAAACCTGGGGCCCACAAGCCGACACCCCTGCGAGTCCTGCTCACACGCATCTGGCCGGCTAACCCGGGCAGGTTCCTTTCCCTCTGGGGTATGCGTGTGACTGGTTTAGTAAAAAGAAACTTCTGCATGTTCTTTTTCTCAAAAGGAATCATTCATTTTTCAAGCCATCACAGCGTCTCTGAAATAGAGGATCTGCCAGCACTGCCCTCTCGCCCGCAAGCAGGACGCAGGGCAGTACGTGCTCAAAAAGAACCACCCTGTGAACATGGGACGTGCTGGTTTCTGCTTCTTCAAGAGGCCCAGGTCCATTATGTGTTCATGAACTGAATGTGTAGTACTTATAAGGTGCTGTAACAAACAGGAGACAAAGCCTTATCCAGGATACAAAAGGTTTATTGCTTATAAAAATAAGTTACCAAAACCCAAGCCCCACAAAACACAAGAACCCCGCATGACGATACCCATGAACACAAGGGCTCATTCCAGTAACAGCTCGCGGAGACGACAGACACCAGCACTGCCGACACACATGGACGAGGAGCATGCTGCACAGCTTCCTTCTACCAGGTTCTAGAAAGGTCTTCTTTGCCTTCAGTCCGCTGGCTAGTGGGAATAATTAGTCCCATCAGCCACAGAGGGAGTCTGCTCTTCAAGAGTGGCCTCTGCACACATGGCGCTGCTTTATGAAAGGGAGGAGCAGCTGTACACATCTGGGCAGTGAGGAACCAGCTGAGCCTTCTGTGGGCTTCCTGCGTGTCTGGGAAGGTGCTGGGTGGGGTCTGAGGCTGGGGCCAGCGTGGGGGCTACTGCCGGCAGGTGTCATGGAAGGCTTCGAGGGTTCGGAAATCCCTCCATGTCGGGGGAAGGCCGTCCTGCAGAAACTTCCCGCAGCGCTGGCACGGGGCCTGGAACAGCTTTATGTAACTTCTTAACCAGGTCTAAAAAGAGAAACGAGGAGAGAAGTGAAAGAATGGGATACGGGTGCTCCCAAAGTCCTCCTTCCTATCAAGCCTAATGGCCCAGACAACTTAAGTTGGCTTTGGCCCCAGAAGATGCCCTGTGATTTCACAGGGAGCAGCAGGCGGAACCCACAAGGTCACCTGACTGCTGATGTTCACGTCTGATGCTCGCGTGCCCCTCCTAACCGAAGGAGTTTTGAAAACAGAAACCCCTACTCTCAAAAGCAGGAAGGCCTCCCTGGAGTCCCCGTGAACCACCGAGCAGCCTGGTGGTCTGGGGGCCAGCACCCCACTTTCACTTTCTGGGTCCCATGTCTTCTGAATGTCAGTATCCATCCTCTTCTCCTTGCCCACTACTAAGAGGTGGCTGTGCATGTGTGCTGAGGAAGCCTTGGAACCGAGGACAATTCCAGAGTTCTCCGCGGAGGTCAACATGCCTTCTAGCTAATCTGATTTCAGAGGTTGTCACTCATTGTCACAGTGTGGCCTGACATACTGGGGGGAGGGGTGGGGACAGCCCTGGTGCCACCAAATAACATCATAAGCAGCAAATCCACACTTGAATGGTTCAGAGTGCAGAGCTTTCTTGGGCGTCATACATAAGGATGAGCCTCCCGTAACTCAATTCTCAAACACAAGGAGATTCACTACCAAAGAAAAAAATACCCAAACGTAAAACAGCAGGCAAGCAAGTTCTCGCGGTGAAAGGGCACGTGAATCTTGTCATTTAATGTCCTCCTGAATTAAGAGAAAACTGTTATTTGAAGAGGTTGGCCGAGCTTATTGATACACATTCTTCCATCTTCACCACAGCTGCCTTCATGGTGACAGGGCATGGCCCATCAGTACTGTCCCCCTTTCCAAAGGCCAGGTGTTTGGGGGTTTTGGCAATAAACACGAGGTCAAGAGGTCCTTCAGTTAAACTACTTATTTTTCCCTAAGTAGAAGAAGTTCTGTCTCTGCCACAAATAGTACTCATGTCTGTGCCTCAAATCAATCAATCAACAGATTCGTATTAATTAGCTGGTGTGGGCTGAGCACAGTGCTGAGTGCTGTGACAGATGTAAATGGTTCTTTTTTTTTTTTTTTTTTTTTATGAGACCACATCTCGCTCTGACACCCAGGCTGGAGCGCAGTGGTGCAATCGATCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCAGCCTCCTGAGTGGAGTCACTGGGATTCAAATCTTCCCTAAATCCCACAGTCAGTTACCAAAGGGAAAGGGGGCATTACAACGTGTTAGGCTCAAAAGCAAGTCTTTATATCTATCTGAAATTGGAGCTCTTGCTGAAGATGGTCAGGGGAACTGTTCCCTGGACACACAGAAGGACCACTCTGTGGGAGCTCTGAGCACCTGGCTGTGTTGTGCCCACTCTGCCAGCATCATGAAGCCAATCAACGCACCAGGGATGTGTCTTCTGAGGAATGAACTCCAGGCTCTCTGAGCAGTGGCACTGTTGATGCCATGTGATAAGATGCACACTGATTTGGCCTTGCTAACAGGTCTTTGGAGTCGGTTCTCTAACCGGCAGACTTTCTAGCATGAAGAAAACAGGGAGTCCCAGCAGCGGTGGATGATGGGGTCTGCTGGCGTGAGAGCATGCGGCCGTGTGAGCATGCTGGCGTGAGAGCATGACGGTGGAACAGCTGGCGGCTACGTCTGTCAAGGACGCGGGGACATGGTGTTAGCCCTGCTTAGGCCAACTGGTGGCGGCGTGATAAATGCTGATAAACTGGCCCTGGGGTTCGGGGGAAGTCCTGACTTGCAGTGTTTGCCGATTTCCGTGGTGTCAACACTCCCACCAAGTTTGATTTCAAACTAGTAGTGGTTGAAGAACCAGCTCGCAAGATACTGAACAGGCACTGGCAGGAGCCGGCTGCAGCACCCCATTGGAATGGCTGCTTTGGGGC
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AAGAAAGGATACAGCAAGTCAATGAAGCTGTGTGCTGGTCTGTTACTGGGAGTTGGGTAAAGGGATCGCCTATCACAGGCTAAACAATAAGACTTAAGGCAGGAGAAATGACTGCTCCCTTGGAATAGATGAAAGAAACGTCAAAGCAATGAAAGGCTGGTGTGACGGATTCACGTGTCACACAGGATTATCAAGACCAGGGTTTAATTGGCAGCATGTTTTTCTTTATTAGTGGTTAGTAATGATGTATCTTAGGAGCACTGGCATCTTGAATTTGACAAAGTAGGTGTGGCGTTTAATCTACAGCCACCCCTGGTCTGGAAAAGTCCTGCCTTACCCTGTGTGCCCCTCCCACTTCCCCGAGTGGGCCATCAAAGCACGACCATTCCTCCTGGGCAGAGGCCTTAGGTGCCAGGGCACGTGACAGTCACCTGAGGGCTGCTAAAGATCAGGTTGCTGGACCCCACCCCAGAGCATGTGTAATTCTTTCTTTTTTTGAGATAGGGTCTTGTTCTGTCTCCTAGGCTGGAGTGCAGAGGTGTAGCCTCGACCTCCCACGCTCAAGCGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGTCGCACACCACCACGCCTGGCTAATTTTTTCGGTATTTTTTTGTAGAGATGGGGCTTTGCCATGTTGCCCAGGCTGGTCTTGCACTCCTGGGCTCAAGTAATCCACCTGTCTTGGCCTCCCAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCCGCCTGGGGATGTGTATTTCTAGTAAGCGTCCACGGTGGCAGTGCTGCAGGTGGGATGCCACGTGGGCAGGCACTGTCCTAGAGCCCTCAGCACGAAACCCTCTCCATTCTCTGGCTCTTTTCGGCCAGGGGTGGCGGGGGGAAGGCTGGTGGTACCAGAAGCCAGGGAGGACCCACTGGTTCTTTTGGACATCTCAGAAGGTGTCATCTCTCTTGACGCTTTGTTCACGGCAAAGAGAACATTGTTCTAGCATGGGCCTGGCCAGGCTGGCTCTGGGCGATGCCACCACCCTCCTCAAGCCCTTCGCCAGGTCAACGATCTTCACAGAAACAGGCCATGTCTTTAAAAGTTGGTGCTGAGGCACTGAACAAAGTCGGGAGATGGGGCTGGGATCGAGTCATGGTAATATTTAGGACAAAACCTGGGGCCCACAAGCCGACACCCCTGCGAGTCCTGCTCACACGCATCTGGCCGGCTAACCCGGGCAGGTTCCTTTCCCTCTGGGGTATGCGTGTGACTGGTTTAGTAAAAAGAAACTTCTGCATGTTCTTTTTCTCAAAAGGAATCATTCATTTTTCAAGCCATCACAGCGTCTCTGAAATAGAGGATCTGCCAGCACTGCCCTCTCGCCCGCAAGCAGGACGCAGGGCAGTACGTGCTCAAAAAGAACCACCCTGTGAACATGGGACGTGCTGGTTTCTGCTTCTTCAAGAGGCCCAGGTCCATTATGTGTTCATGAACTGAATGTGTAGTACTTATAAGGTGCTGTAACAAACAGGAGACAAAGCCTTATCCAGGATACAAAAGGTTTATTGCTTATAAAAATAAGTTACCAAAACCCAAGCCCCACAAAACACAAGAACCCCGCATGACGATACCCATGAACACAAGGGCTCATTCCAGTAACAGCTCGCGGAGACGACAGACACCAGCACTGCCGACACACATGGACGAGGAGCATGCTGCACAGCTTCCTTCTACCAGGTTCTAGAAAGGTCTTCTTTGCCTTCAGTCCGCTGGCTAGTGGGAATAATTAGTCCCATCAGCCACAGAGGGAGTCTGCTCTTCAAGAGTGGCCTCTGCACACATGGCGCTGCTTTATGAAAGGGAGGAGCAGCTGTACACATCTGGGCAGTGAGGAACCAGCTGAGCCTTCTGTGGGCTTCCTGCGTGTCTGGGAAGGTGCTGGGTGGGGTCTGAGGCTGGGGCCAGCGTGGGGGCTACTGCCGGCAGGTGTCATGGAAGGCTTCGAGGGTTCGGAAATCCCTCCATGTCGGGGGAAGGCTGTCCTGCAGAAACTTCCCGCAGCGCTGGCACGGGGCCTGGAACAGCTTTATGTAACTTCTTAACCAGGTCTAAAAAGAGAAACGAGGAGAGAAGTGAAAGAATGGGATACGGGTGCTCCCAAAGTCCTCCTTCCTATCAAGCCTAATGGCCCAGACAACTTAAGTTGGCTTTGGCCCCAGAAGATGCCCTGTGATTTCACAGGGAGCAGCAGGCGGAACCCACAAGGTCACCTGACTGCTGATGTTCACGTCTGATGCTCGCGTGCCCCTCCTAACCGAAGGAGTTTTGAAAACAGAAACCCCTACTCTCAAAAGCAGGAAGGCCTCCCTGGAGTCCCCGTGAACCACCGAGCAGCCTGGTGGTCTGGGGGCCAGCACCCCACTTTCACTTTCTGGGTCCCATGTCTTCTGAATGTCAGTATCCATCCTCTTCTCCTTGCCCACTACTAAGAGGTGGCTGTGCATGTGTGCTGAGGAAGCCTTGGAACCGAGGACAATTCCAGAGTTCTCCGCGGAGGTCAACATGCCTTCTAGCTAATCTGATTTCAGAGGTTGTCACTCATTGTCACAGTGTGGCCTGACATACTGGGGGGAGGGGTGGGGACAGCCCTGGTGCCACCAAATAACATCATAAGCAGCAAATCCACACTTGAATGGTTCAGAGTGCAGAGCTTTCTTGGGCGTCATACATAAGGATGAGCCTCCCGTAACTCAATTCTCAAACACAAGGAGATTCACTACCAAAGAAAAAAATACCCAAACGTAAAACAGCAGGCAAGCAAGTTCTCGCGGTGAAAGGGCACGTGAATCTTGTCATTTAATGTCCTCCTGAATTAAGAGAAAACTGTTATTTGAAGAGGTTGGCCGAGCTTATTGATACACATTCTTCCATCTTCACCACAGCTGCCTTCATGGTGACAGGGCATGGCCCATCAGTACTGTCCCCCTTTCCAAAGGCCAGGTGTTTGGGGGTTTTGGCAATAAACACGAGGTCAAGAGGTCCTTCAGTTAAACTACTTATTTTTCCCTAAGTAGAAGAAGTTCTGTCTCTGCCACAAATAGTACTCATGTCTGTGCCTCAAATCAATCAATCAACAGATTCGTATTAATTAGCTGGTGTGGGCTGAGCACAGTGCTGAGTGCTGTGACAGATGTAAATGGTTCTTTTTTTTTTTTTTTTTTTTTATGAGACCACATCTCGCTCTGACACCCAGGCTGGAGCGCAGTGGTGCAATCGATCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCAGCCTCCTGAGTGGAGTCACTGGGATTCAAATCTTCCCTAAATCCCACAGTCAGTTACCAAAGGGAAAGGGGGCATTACAACGTGTTAGGCTCAAAAGCAAGTCTTTATATCTATCTGAAATTGGAGCTCTTGCTGAAGATGGTCAGGGGAACTGTTCCCTGGACACACAGAAGGACCACTCTGTGGGAGCTCTGAGCACCTGGCTGTGTTGTGCCCACTCTGCCAGCATCATGAAGCCAATCAACGCACCAGGGATGTGTCTTCTGAGGAATGAACTCCAGGCTCTCTGAGCAGTGGCACTGTTGATGCCATGTGATAAGATGCACACTGATTTGGCCTTGCTAACAGGTCTTTGGAGTCGGTTCTCTAACCGGCAGACTTTCTAGCATGAAGAAAACAGGGAGTCCCAGCAGCGGTGGATGATGGGGTCTGCTGGCGTGAGAGCATGCGGCCGTGTGAGCATGCTGGCGTGAGAGCATGACGGTGGAACAGCTGGCGGCTACGTCTGTCAAGGACGCGGGGACATGGTGTTAGCCCTGCTTAGGCCAACTGGTGGCGGCGTGATAAATGCTGATAAACTGGCCCTGGGGTTCGGGGGAAGTCCTGACTTGCAGTGTTTGCCGATTTCCGTGGTGTCAACACTCCCACCAAGTTTGATTTCAAACTAGTAGTGGTTGAAGAACCAGCTCGCAAGATACTGAACAGGCACTGGCAGGAGCCGGCTGCAGCACCCCATTGGAATGGCTGCTTTGGGGC
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Task1_train_13394
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The gene MED27 (mediator complex subunit 27) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
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TTGCCCACTACTAAGAGGTGGCTGTGCATGTGTGCTGAGGAAGCCTTGGAACCGAGGACAATTCCAGAGTTCTCCGCGGAGGTCAACATGCCTTCTAGCTAATCTGATTTCAGAGGTTGTCACTCATTGTCACAGTGTGGCCTGACATACTGGGGGGAGGGGTGGGGACAGCCCTGGTGCCACCAAATAACATCATAAGCAGCAAATCCACACTTGAATGGTTCAGAGTGCAGAGCTTTCTTGGGCGTCATACATAAGGATGAGCCTCCCGTAACTCAATTCTCAAACACAAGGAGATTCACTACCAAAGAAAAAAATACCCAAACGTAAAACAGCAGGCAAGCAAGTTCTCGCGGTGAAAGGGCACGTGAATCTTGTCATTTAATGTCCTCCTGAATTAAGAGAAAACTGTTATTTGAAGAGGTTGGCCGAGCTTATTGATACACATTCTTCCATCTTCACCACAGCTGCCTTCATGGTGACAGGGCATGGCCCATCAGTACTGTCCCCCTTTCCAAAGGCCAGGTGTTTGGGGGTTTTGGCAATAAACACGAGGTCAAGAGGTCCTTCAGTTAAACTACTTATTTTTCCCTAAGTAGAAGAAGTTCTGTCTCTGCCACAAATAGTACTCATGTCTGTGCCTCAAATCAATCAATCAACAGATTCGTATTAATTAGCTGGTGTGGGCTGAGCACAGTGCTGAGTGCTGTGACAGATGTAAATGGTTCTTTTTTTTTTTTTTTTTTTTTATGAGACCACATCTCGCTCTGACACCCAGGCTGGAGCGCAGTGGTGCAATCGATCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCAGCCTCCTGAGTGGAGTCACTGGGATTCAAATCTTCCCTAAATCCCACAGTCAGTTACCAAAGGGAAAGGGGGCATTACAACGTGTTAGGCTCAAAAGCAAGTCTTTATATCTATCTGAAATTGGAGCTCTTGCTGAAGATGGTCAGGGGAACTGTTCCCTGGACACACAGAAGGACCACTCTGTGGGAGCTCTGAGCACCTGGCTGTGTTGTGCCCACTCTGCCAGCATCATGAAGCCAATCAACGCACCAGGGATGTGTCTTCTGAGGAATGAACTCCAGGCTCTCTGAGCAGTGGCACTGTTGATGCCATGTGATAAGATGCACACTGATTTGGCCTTGCTAACAGGTCTTTGGAGTCGGTTCTCTAACCGGCAGACTTTCTAGCATGAAGAAAACAGGGAGTCCCAGCAGCGGTGGATGATGGGGTCTGCTGGCGTGAGAGCATGCGGCCGTGTGAGCATGCTGGCGTGAGAGCATGACGGTGGAACAGCTGGCGGCTACGTCTGTCAAGGACGCGGGGACATGGTGTTAGCCCTGCTTAGGCCAACTGGTGGCGGCGTGATAAATGCTGATAAACTGGCCCTGGGGTTCGGGGGAAGTCCTGACTTGCAGTGTTTGCCGATTTCCGTGGTGTCAACACTCCCACCAAGTTTGATTTCAAACTAGTAGTGGTTGAAGAACCAGCTCGCAAGATACTGAACAGGCACTGGCAGGAGCCGGCTGCAGCACCCCATTGGAATGGCTGCTTTGGGGCTGCTATCATCTCGAGCTCCAACTCCGAAAATCGAAGGAGGAAACGTCTTGGGAAACTGCACGATCTGTTAATTCACTGCTACATGCTCTGTGCCAACCACAGGGCCTGGCCCAGATTAGGAGCTCAATGAAATATCTGTGGACTAAGTCAATGCTGGAACTATTTTGGAAGATCATTTCTGAAACCACCGCTTTTTCAGCAAGTAGAGAAAGCACCAGTGAATGAAGCTGGAAGTGGTTTCTCCCAGATCCCTTCGCAGTTTAAAGAAAGTAGCAGTTTTAAACTGGCAGCCCCATCTCCCACTGGGAGGCCCTCAAAGTCTGAAGATGCAACGGCTGCCCTTCAAGCTCCCTGTTCTCACTTGAAGGGAGCTGAGGTTTAAACAGGAGACCTGACTCTTGAAGCCACTTACCATGAAGGATCGGACCACGACATCCGGCATCTGGGGCAGCTGATAGTGGAGCAGGGCAGTGGTGGCATGGTCTGTCACCTGAGAGTGAAGGACAAAGACGAGTTAGCGGCCACTCCAAGCTGGCATAGAGAAAACAAGCAGGACAAATGCACGCCTTCTGTGTGAAAACAGATCTGAGTATCTCGTGGAGGAAAGGGCATCTAAAATAAAATCTCTGTAGAAAAATTAGTTAGCAGAGTTGGGGACCCAGAGGGGGAGAAGAGGCATGCTGTCGGCAGAAAGGATGCAGGCCTGGAGGCAGGGGGCGTGTGGAAGATTCCAGCAACGGAAAGCCTGGCCAGGCTGGAGCACTGGCAGAGGGAGCGGCCAGAGGCCAGTGGGGGCAGATCCCAGAGGGGATCCCAAGCCTCCCTGCTCAGCAAGGCGCGGCACACACAGCACATACGACAAGGAGCACTTCCGCCCGGTACGCACACTTCCTCTTCCTCCTGCGATGGTTTTCCCAACAGGGCAATTGGTCTCTTTCCATTTCCTTGAATTCTCATTCTGTCACCATTTGTAGCCACACAGGATTTATGATGGGGAGCCTGGCAGTTTCTGAGCCACACAGGATTTATGATGGGGAGCCTGGCAGTTTCTGAGGCTGTTCTGTTGGGCCTCACCGTTGCTAGGATGGCCCTTCGCAGGAGCCCGGCGCGCCTGGTGTGGTCCCCTCACCAGCTCTCTGAAGGCTGTGGCCTATGGTCAGCACCTTAGGGGTCTGTGCCTATTGTCTCCTGACTCCTCAGGAGAAGTTTATCAGCAAGGCCAAGGGCAAGGCTGCTTGAAGTCCAGTGAAGGCATCAGGTGACCAGATGGACAGAGCACAGGGTTTAAGCTCCAGCACCACCCCCTGACCTGGATCCAGCTCCTTATCCTCTCTGCGTCTCCATGCCCCTTCCAAGGAGCAAAGGGGCTGGCCTCAGAACCCTGGTGGTTCTGAAACTGGATGACACTGTGAATTGTTAATGCCCGCCGTCAATCAGCATATGAGTAGATTATACCTAATTTGATAGTTATGTTCAAAGTAATGGTTTACATGATTGTCCTCATTAGGGATTCTTGACATCGCACATGTCATCATTAAAAACAAAACAGGCCAGGTGCGGTGCCTCATGCCTGTAATCCCAGACCTTTGGGAGGCTGAGTCAGGGGGGATCACTTGGGCCCAGGAGTTCAAGACCAGCCTGGACAATAGAGCAAGACCCCGCCTCTATAGAAAATACAAAAAATTAGCTGGCTGTGATGCCACACACCTATAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGATCATCCGAGCCTGGGAAGTTGAGGCTACAGTGAACTGTGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGACCTGTCTCAAACAAAACAAAATGAAAAAACCACACCTAAAATAAAAAACCCAAAAAACTCCAGAGAAAATCCTTAGCTTTGAGAAGAATGAACATAGGTCTAACTTGTGTAGACGTGTTCATTTTCTAACCCCCAATGAACACTGTGTATGTGGCTGAACCCATGCAGGCGCAGAGCAAGCTGGGCAGGTGGAGACCAGGGTCCGCGCCCCGCACGGTGATGTGTGTCCACACCTGCAGCTGGAGAGGCTGCCCCACAAAACGTGAGGACGCCGGCTCTGCAGCCAGGCAAGCCGGGGCCCGGCCCCTGGCCTCTTATGGGGGCCTCTCTAAGCCTCAGTTTCCCCTTCCATAAAATGGAGACTGTACTGCATACTGAGTAAGGCTCGTGAGAGGACAGAGTGAGGCCAGGCGTGGGAAGCACTCACTCTCTGGCAATGCCACCAGCCCCGCCTGCCCAGTCTCCTCTTCTGCTCTGCCTGGGCCCTGGACTTGCCCTATTTCCCACTGGACTTTCACGGCCTGCCCCATACTGCATCCCCAAGGCCTTAGGATATTACCCTGCATACAGCAGGTGCCCAATACATATTTGCTGAATAAAGAAGTAAACTTAAAAACGCCCACCCACCAAAGGCCATGTACCATAAACACCTGCGCTTTCTTGCAA
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TTGCCCACTACTAAGAGGTGGCTGTGCATGTGTGCTGAGGAAGCCTTGGAACCGAGGACAATTCCAGAGTTCTCCGCGGAGGTCAACATGCCTTCTAGCTAATCTGATTTCAGAGGTTGTCACTCATTGTCACAGTGTGGCCTGACATACTGGGGGGAGGGGTGGGGACAGCCCTGGTGCCACCAAATAACATCATAAGCAGCAAATCCACACTTGAATGGTTCAGAGTGCAGAGCTTTCTTGGGCGTCATACATAAGGATGAGCCTCCCGTAACTCAATTCTCAAACACAAGGAGATTCACTACCAAAGAAAAAAATACCCAAACGTAAAACAGCAGGCAAGCAAGTTCTCGCGGTGAAAGGGCACGTGAATCTTGTCATTTAATGTCCTCCTGAATTAAGAGAAAACTGTTATTTGAAGAGGTTGGCCGAGCTTATTGATACACATTCTTCCATCTTCACCACAGCTGCCTTCATGGTGACAGGGCATGGCCCATCAGTACTGTCCCCCTTTCCAAAGGCCAGGTGTTTGGGGGTTTTGGCAATAAACACGAGGTCAAGAGGTCCTTCAGTTAAACTACTTATTTTTCCCTAAGTAGAAGAAGTTCTGTCTCTGCCACAAATAGTACTCATGTCTGTGCCTCAAATCAATCAATCAACAGATTCGTATTAATTAGCTGGTGTGGGCTGAGCACAGTGCTGAGTGCTGTGACAGATGTAAATGGTTCTTTTTTTTTTTTTTTTTTTTTATGAGACCACATCTCGCTCTGACACCCAGGCTGGAGCGCAGTGGTGCAATCGATCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCGATCCTCCCGCTTCAGCCTCCTGAGTGGAGTCACTGGGATTCAAATCTTCCCTAAATCCCACAGTCAGTTACCAAAGGGAAAGGGGGCATTACAACGTGTTAGGCTCAAAAGCAAGTCTTTATATCTATCTGAAATTGGAGCTCTTGCTGAAGATGGTCAGGGGAACTGTTCCCTGGACACACAGAAGGACCACTCTGTGGGAGCTCTGAGCACCTGGCTGTGTTGTGCCCACTCTGCCAGCATCATGAAGCCAATCAACGCACCAGGGATGTGTCTTCTGAGGAATGAACTCCAGGCTCTCTGAGCAGTGGCACTGTTGATGCCATGTGATAAGATGCACACTGATTTGGCCTTGCTAACAGGTCTTTGGAGTCGGTTCTCTAACCGGCAGACTTTCTAGCATGAAGAAAACAGGGAGTCCCAGCAGCGGTGGATGATGGGGTCTGCTGGCGTGAGAGCATGCGGCCGTGTGAGCATGCTGGCGTGAGAGCATGACGGTGGAACAGCTGGCGGCTACGTCTGTCAAGGACGCGGGGACATGGTGTTAGCCCTGCTTAGGCCAACTGGTGGCGGCGTGATAAATGCTGATAAACTGGCCCTGGGGTTCGGGGGAAGTCCTGACTTGCAGTGTTTGCCGATTTCCGTGGTGTCAACACTCCCACCAAGTTTGATTTCAAACTAGTAGTGGTTGAAGAACCAGCTCGCAAGATACTGAACAGGCACTGGCAGGAGCCGGCTGCAGCACCCCATTGGAATGGCTGCTTTGGGGCTGCTATCATCTCGAGCTCCAACTCCGAAAATCGAAGGAGGAAACGTCTTGGGAAACTGCACGATCTGTTAATTCACTGCTACATGCTCTGTGCCAACCACAGGGCCTGGCCCAGATTAGGAGCTCAATGAAATATCTGTGGACTAAGTCAATGCTGGAACTATTTTGGAAGATCATTTCTGAAACCACCGCTTTTTCAGCAAGTAGAGAAAGCACCAGTGAATGAAGCTGGAAGTGGTTTCTCCCAGATCCCTTCGCAGTTTAAAGAAAGTAGCAGTTTTAAACTGGCAGCCCCATCTCCCACTGGGAGGCCCTCAAAGTCTGAAGATGCAACGGCTGCCCTTCAAGCTCCCTGTTCTCACTTGAAGGGAGCTGAGGTTTAAACAGGAGACCTGACTCTTGAAGCCACTTACCATGAAGGATCGGACCACGACATCCAGCATCTGGGGCAGCTGATAGTGGAGCAGGGCAGTGGTGGCATGGTCTGTCACCTGAGAGTGAAGGACAAAGACGAGTTAGCGGCCACTCCAAGCTGGCATAGAGAAAACAAGCAGGACAAATGCACGCCTTCTGTGTGAAAACAGATCTGAGTATCTCGTGGAGGAAAGGGCATCTAAAATAAAATCTCTGTAGAAAAATTAGTTAGCAGAGTTGGGGACCCAGAGGGGGAGAAGAGGCATGCTGTCGGCAGAAAGGATGCAGGCCTGGAGGCAGGGGGCGTGTGGAAGATTCCAGCAACGGAAAGCCTGGCCAGGCTGGAGCACTGGCAGAGGGAGCGGCCAGAGGCCAGTGGGGGCAGATCCCAGAGGGGATCCCAAGCCTCCCTGCTCAGCAAGGCGCGGCACACACAGCACATACGACAAGGAGCACTTCCGCCCGGTACGCACACTTCCTCTTCCTCCTGCGATGGTTTTCCCAACAGGGCAATTGGTCTCTTTCCATTTCCTTGAATTCTCATTCTGTCACCATTTGTAGCCACACAGGATTTATGATGGGGAGCCTGGCAGTTTCTGAGCCACACAGGATTTATGATGGGGAGCCTGGCAGTTTCTGAGGCTGTTCTGTTGGGCCTCACCGTTGCTAGGATGGCCCTTCGCAGGAGCCCGGCGCGCCTGGTGTGGTCCCCTCACCAGCTCTCTGAAGGCTGTGGCCTATGGTCAGCACCTTAGGGGTCTGTGCCTATTGTCTCCTGACTCCTCAGGAGAAGTTTATCAGCAAGGCCAAGGGCAAGGCTGCTTGAAGTCCAGTGAAGGCATCAGGTGACCAGATGGACAGAGCACAGGGTTTAAGCTCCAGCACCACCCCCTGACCTGGATCCAGCTCCTTATCCTCTCTGCGTCTCCATGCCCCTTCCAAGGAGCAAAGGGGCTGGCCTCAGAACCCTGGTGGTTCTGAAACTGGATGACACTGTGAATTGTTAATGCCCGCCGTCAATCAGCATATGAGTAGATTATACCTAATTTGATAGTTATGTTCAAAGTAATGGTTTACATGATTGTCCTCATTAGGGATTCTTGACATCGCACATGTCATCATTAAAAACAAAACAGGCCAGGTGCGGTGCCTCATGCCTGTAATCCCAGACCTTTGGGAGGCTGAGTCAGGGGGGATCACTTGGGCCCAGGAGTTCAAGACCAGCCTGGACAATAGAGCAAGACCCCGCCTCTATAGAAAATACAAAAAATTAGCTGGCTGTGATGCCACACACCTATAGTCCCAGCTACTCAGGAGGCTGAGATGGGAGGATCATCCGAGCCTGGGAAGTTGAGGCTACAGTGAACTGTGACTGTGCCACTGCACTCCAGCCTGGGCGACAGAGACCTGTCTCAAACAAAACAAAATGAAAAAACCACACCTAAAATAAAAAACCCAAAAAACTCCAGAGAAAATCCTTAGCTTTGAGAAGAATGAACATAGGTCTAACTTGTGTAGACGTGTTCATTTTCTAACCCCCAATGAACACTGTGTATGTGGCTGAACCCATGCAGGCGCAGAGCAAGCTGGGCAGGTGGAGACCAGGGTCCGCGCCCCGCACGGTGATGTGTGTCCACACCTGCAGCTGGAGAGGCTGCCCCACAAAACGTGAGGACGCCGGCTCTGCAGCCAGGCAAGCCGGGGCCCGGCCCCTGGCCTCTTATGGGGGCCTCTCTAAGCCTCAGTTTCCCCTTCCATAAAATGGAGACTGTACTGCATACTGAGTAAGGCTCGTGAGAGGACAGAGTGAGGCCAGGCGTGGGAAGCACTCACTCTCTGGCAATGCCACCAGCCCCGCCTGCCCAGTCTCCTCTTCTGCTCTGCCTGGGCCCTGGACTTGCCCTATTTCCCACTGGACTTTCACGGCCTGCCCCATACTGCATCCCCAAGGCCTTAGGATATTACCCTGCATACAGCAGGTGCCCAATACATATTTGCTGAATAAAGAAGTAAACTTAAAAACGCCCACCCACCAAAGGCCATGTACCATAAACACCTGCGCTTTCTTGCAA
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Task1_train_13395
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A genetic alteration is present in MED27 (mediator complex subunit 27) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
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AAATAAACCTAAGCCCATTTACACTCCAGGGTAAAGCCAGCCCCCAGGATCAAAGACTGCTCTTCAAACCATCCATCAGAAGTCCCTTAAGAAGAAATACTTTTTGAAAGGTTAAAAAATACTTGGGACACTTAAAAAAAAAAACCCTAAATGAGAGTTTATCTGACTTTAAAACAGAGCTTCTGGTGCCATTCCAAAGGAGGAAAAAAAAGGTAAGGGCAGTAGAATCAATAAGACCCCCATAATCAGAAATTAACAACTCAAATTCATCCCTGCAGTGGGGAGGAGACTTTCTGGAATTTTGAAATGTGGTATAACACTGCCTCTCACTAAGAGTTTTCAGACCCACGTGCAGATCATTACACTTGGCAGAACAGCAAGTACCTGATTAAATGATGATTATTTATCATTCACATAGGGATAGATTTGTACATGATGCTTCACAGATGGTAAAACTTAACAAAACAAAGAAGAGATAAAATAAACAAATGGAATGGGAAGACACCACTGAGGTGGCTGTGTCAAACAAACACACTTCAGTCTAGCAGGAAAACCCTAGAGAAGCTTGGGAAAGCGAGCCAACAAGAGCACATTCCAGGAGTACGTTCTGAGGGGCCAGTCCCAAACTGCCAACAAAAGACTCTCTAGGAACAGCTTCTTATGCCACATTCATTTTGGAATCATCAGCCACCTTCTTCTTGGCACTACTGTACAAAGATTTAAGAAGGCAAAAGGATAATGTCAGCACTCTTAAAGTTTCTATTTAAAATGGTGAAGGGTTATAATATCCTGAACATTACAAAGGGAAGTAACTCGGAGAGAAAATGGAAAGAAAACAGAAGATAGGGAAGAATAGCCAGTGCATCCCCTGAAGCAGAGAAAGTATTAACTGGTGCTCGGCGCGGTGCCAGAGAACAGCAAGCGGATGTGGGCGTTGAGGAGGGCTGTGTGATTTACGGCAACTACTTAGGGGGAAAACAAAAAGGCACCCATCATTTGGCCACCTCCTCCTCCTCCTCCTCCATCCTACCTCCTCTTTCCATCTGGTTACTAAGGAGACCAAGTTGAAAAAACAAAAATCCAACCAGTCCAGAAATCAAAGGATGACTAGCTCACCAAATGCTTTCCCCTACTCAGGTCAGTTCTGAGAAGTAAAAGGCAAAAATCCTGAAATTCTAACCTTCCTGGGAAGGACTGACTCTCTTATAAAACAGAAGGCAAGTTCAGGACCTAAGCAATCAAGAAGTGCCTACTATGTGCCAGGCCCTTTACAAACATCCTCTCATTTAATTCTTACAACACTTAAAAAGTGTAAGTGAAGAAGGTACTTTGTAAGGAAGAGGAGGAAAAGTGGAATCCTTAACCCTAAAAGACTACAAATTAAGAAGCAGGGGCGTTAAGCATAAGTAATTAAACTGGTTAAGAGATTAGAGAGTAGGTCTCTACTGCGGAAGGAACTCCCACAGGAGTGGGAGTGAGGAAACTGATCAGGTGGTTTGGGAGCGGTTAGGGGAAAAGGTGAAGACAGCTCAAGGCCTGGCCGGTCCGTCGTGGTTGCGGGTGGGTGGTGGTGGAACTGATGAAGTCCAAGTTCAGGGCCGGGGAATTGGGGCTAATCAGATCGGGTGCACTTGGGTTTGGAGCCGACTGACCAGGTCCTGTCTGTACTATTACTACATTCGGATCAGACGTGATGGGGCACAGAGGGCCTACAGGTGAGAAACCTGCCAAGCTCAGAGAAGTGGAAGTTCATGGGAAAAGCATGCCTCCTTGTTAGGAATGGAACCGCCACAGAAGAGGTCGAGGATGGCGGAAGACAAACAGGACCAGGAGGCCAGGAGAAGCAAGACGAGAAAGCGGGGATGGTGTTAAGATGTCCCTGAGGGACAGGCAGAGGCTTGGAGAACAAGAAGAGAAAGAACAGGGATCAAGGGAAACGGAGAACAGCCCCTGCCTGGGAAGACTCGAGCGACGTAGGGGCAGGGTCGGAGCGGGGCCGGTCCCCGACCCCGGCCCCTTCAGCCGGTACCTACTTGAGGTCCCGGTTGACCGAATGTAAGTTGTCCTGGAAGTGCGCAATAAAGGCCTTCTCCCGGCCCTCCAGCGTCTCCTTGTTCCGCATCCCATCCTTCAGGCAGTCGAACACCCTGCTCACGCTGGAGCGCAGCGCCTGGATGGCACTAATGGCCTGGGAAAAGGCCTCCAGGTTCACACTGACATTTATCACGTCCGCCATGTTGCCGCCGCCACAGCAGCTCTCCAAAGCCGGCTTCGCAAGCAAAAAAGCCGCGCTCGCTGATGACGTATCTCCGAAGACCTCTGGGAAATGCAGTTCGCGCGGGGCTACCCAGAAAGCACTTTCGAAAAAGGGTTTCCCCTTGAGCTAAACTAATGCATGGGCAGGAAAGTGATTTTTCTCAACTTGGGGAAGTCAGGTTGCACTCCCGGTTTGCTTAATGGTGACAAAGAAATACAGAAAGTTCCCGCATTTCCCCAAACTTGCACTCTGGGGAATCATAGGGAAAAGAATTGCTCAGAGCAATAGTGTAAAAAGGAAAGGAACATAGCCCATTCAATAAAATGAGTCCATATTCATAAATAAAGCGGGGAGAAGGAAAGTTTCTTCTTTCCAATAGAATGCCAGCTCATAAATGCAGAAAGAGTGATGGAATTAGAAAATTGCCATTTGACAGCCATTAGAATAATTGATTCAGATAGAAATCGATGGATGCTAAAACTAGTGGGTGAAAGTGTCAGAAAAATAACAGGCTTTTTAGGTAATCTCAAAGTATCGTCCCCCAAGATGCTTATTAATTAAGAAGAGGAAAATAATGATCCAGAGATTCCACTTCTGGGCATATACCCAAAAGAAGCGAAAGCAGGGACTCAATACCTGTACACATGTTCATAACAGCATTATTCACCAAATAGCCAAAAGGCAGGGGAAACCCAAGTGTCCATAAACTGATGAATAAACAAAGTGTGATACTGGCATACAATGAAAAATTCTTCAGGCTTAAGCAAGAAAATTCTGACATATGCTACCTGGAGGAAACTTGAAGACATTATGCTAAGTGAAATAAGCCAGTCACAAAAAAACAAAATTCTGTGTGACTCCACTTATATGAGGTGTTTAGGGTAGTCAAAATGTTAGAGACAGAAAGTAGAATGGTGGCTGGTTTACAGTGAACACACACCTCTGAAAATAACATACATAGCATAGAGGTTGTGGAAGAAAGAGAAGGTTTGGGATTTAAATAAAACCAACAAAATGTTGGCCAAATCTGGCTTTATGGAAAAATTCAATGTCTCTTTGTCCTGTTGGCTATAGACAGGTTTCTGAAAATTTATTATCTTTTTACTAAAGGGAACCTGCCCAAGTCCTCATGTTCTTTCCTTAGAGGAGCTGGGGTTGCATAGCTTGGAGCAGAGAAGAGGAGAGCAGGAGGCAGATCATGATTGTGACCTTCAACTCACCTTCATGTCAACCCAAGACAAGAGTCCTCCTTGGTTAACTAGTGGCAATAACAATAACCAGTTGTAGGAAGGCTGTAGAGAGGAAGATTTCAGCATAATATTGCAAAGGGCCATATTTAAGTCTGTACTTAAAGAGTACAGACTTGGAAAAGTTTTACAGCTGGATGGTGGTGATGGCCATACAACAATGTGATTGTACTTAATGCCACAGAACTGGACACTTAGAAACAGTGAAAATGGTTGATTTTATATTATGTATATTTTACCAAAAAATTTTAAACAATTCATTAATGTAAACATAAGGGGGGATGGATAGTGACTTAATAGTGACTTCACAGTGGAGAAACATGGCAGACACCAGCTTAACCAAAAGGCCAAGGTCAACATCACCAGTGACGGGACATGTTGTGCACCTCCTGATACAATGCACTGGAAAGAGCACAACATGACCTCCATGATATTCTTGCCAGCAGTGCATAACCTGAATCTAATCAGGACATCAATAGAACTCAAACTGAAAAACGTGACAAAATAACTGACTGACCTATACTTTTTCAAGAAATATCTGTGTCAGGCCATACACTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG
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AAATAAACCTAAGCCCATTTACACTCCAGGGTAAAGCCAGCCCCCAGGATCAAAGACTGCTCTTCAAACCATCCATCAGAAGTCCCTTAAGAAGAAATACTTTTTGAAAGGTTAAAAAATACTTGGGACACTTAAAAAAAAAAACCCTAAATGAGAGTTTATCTGACTTTAAAACAGAGCTTCTGGTGCCATTCCAAAGGAGGAAAAAAAAGGTAAGGGCAGTAGAATCAATAAGACCCCCATAATCAGAAATTAACAACTCAAATTCATCCCTGCAGTGGGGAGGAGACTTTCTGGAATTTTGAAATGTGGTATAACACTGCCTCTCACTAAGAGTTTTCAGACCCACGTGCAGATCATTACACTTGGCAGAACAGCAAGTACCTGATTAAATGATGATTATTTATCATTCACATAGGGATAGATTTGTACATGATGCTTCACAGATGGTAAAACTTAACAAAACAAAGAAGAGATAAAATAAACAAATGGAATGGGAAGACACCACTGAGGTGGCTGTGTCAAACAAACACACTTCAGTCTAGCAGGAAAACCCTAGAGAAGCTTGGGAAAGCGAGCCAACAAGAGCACATTCCAGGAGTACGTTCTGAGGGGCCAGTCCCAAACTGCCAACAAAAGACTCTCTAGGAACAGCTTCTTATGCCACATTCATTTTGGAATCATCAGCCACCTTCTTCTTGGCACTACTGTACAAAGATTTAAGAAGGCAAAAGGATAATGTCAGCACTCTTAAAGTTTCTATTTAAAATGGTGAAGGGTTATAATATCCTGAACATTACAAAGGGAAGTAACTCGGAGAGAAAATGGAAAGAAAACAGAAGATAGGGAAGAATAGCCAGTGCATCCCCTGAAGCAGAGAAAGTATTAACTGGTGCTCGGCGCGGTGCCAGAGAACAGCAAGCGGATGTGGGCGTTGAGGAGGGCTGTGTGATTTACGGCAACTACTTAGGGGGAAAACAAAAAGGCACCCATCATTTGGCCACCTCCTCCTCCTCCTCCTCCATCCTACCTCCTCTTTCCATCTGGTTACTAAGGAGACCAAGTTGAAAAAACAAAAATCCAACCAGTCCAGAAATCAAAGGATGACTAGCTCACCAAATGCTTTCCCCTACTCAGGTCAGTTCTGAGAAGTAAAAGGCAAAAATCCTGAAATTCTAACCTTCCTGGGAAGGACTGACTCTCTTATAAAACAGAAGGCAAGTTCAGGACCTAAGCAATCAAGAAGTGCCTACTATGTGCCAGGCCCTTTACAAACATCCTCTCATTTAATTCTTACAACACTTAAAAAGTGTAAGTGAAGAAGGTACTTTGTAAGGAAGAGGAGGAAAAGTGGAATCCTTAACCCTAAAAGACTACAAATTAAGAAGCAGGGGCGTTAAGCATAAGTAATTAAACTGGTTAAGAGATTAGAGAGTAGGTCTCTACTGCGGAAGGAACTCCCACAGGAGTGGGAGTGAGGAAACTGATCAGGTGGTTTGGGAGCGGTTAGGGGAAAAGGTGAAGACAGCTCAAGGCCTGGCCGGTCCGTCGTGGTTGCGGGTGGGTGGTGGTGGAACTGATGAAGTCCAAGTTCAGGGCCGGGGAATTGGGGCTAATCAGATCGGGTGCACTTGGGTTTGGAGCCGACTGACCAGGTCCTGTCTGTACTATTACTACATTCGGATCAGACGTGATGGGGCACAGAGGGCCTACAGGTGAGAAACCTGCCAAGCTCAGAGAAGTGGAAGTTCATGGGAAAAGCATGCCTCCTTGTTAGGAATGGAACCGCCACAGAAGAGGTCGAGGATGGCGGAAGACAAACAGGACCAGGAGGCCAGGAGAAGCAAGACGAGAAAGCGGGGATGGTGTTAAGATGTCCCTGAGGGACAGGCAGAGGCTTGGAGAACAAGAAGAGAAAGAACAGGGATCAAGGGAAACGGAGAACAGCCCCTGCCTGGGAAGACTCGAGCGACGTAGGGGCAGGGTCGGAGCGGGGCCGGTCCCCGACCCCGGCCCCTTCAGCCGGTACCTACTTGAGGTCCCGGTTGCCCGAATGTAAGTTGTCCTGGAAGTGCGCAATAAAGGCCTTCTCCCGGCCCTCCAGCGTCTCCTTGTTCCGCATCCCATCCTTCAGGCAGTCGAACACCCTGCTCACGCTGGAGCGCAGCGCCTGGATGGCACTAATGGCCTGGGAAAAGGCCTCCAGGTTCACACTGACATTTATCACGTCCGCCATGTTGCCGCCGCCACAGCAGCTCTCCAAAGCCGGCTTCGCAAGCAAAAAAGCCGCGCTCGCTGATGACGTATCTCCGAAGACCTCTGGGAAATGCAGTTCGCGCGGGGCTACCCAGAAAGCACTTTCGAAAAAGGGTTTCCCCTTGAGCTAAACTAATGCATGGGCAGGAAAGTGATTTTTCTCAACTTGGGGAAGTCAGGTTGCACTCCCGGTTTGCTTAATGGTGACAAAGAAATACAGAAAGTTCCCGCATTTCCCCAAACTTGCACTCTGGGGAATCATAGGGAAAAGAATTGCTCAGAGCAATAGTGTAAAAAGGAAAGGAACATAGCCCATTCAATAAAATGAGTCCATATTCATAAATAAAGCGGGGAGAAGGAAAGTTTCTTCTTTCCAATAGAATGCCAGCTCATAAATGCAGAAAGAGTGATGGAATTAGAAAATTGCCATTTGACAGCCATTAGAATAATTGATTCAGATAGAAATCGATGGATGCTAAAACTAGTGGGTGAAAGTGTCAGAAAAATAACAGGCTTTTTAGGTAATCTCAAAGTATCGTCCCCCAAGATGCTTATTAATTAAGAAGAGGAAAATAATGATCCAGAGATTCCACTTCTGGGCATATACCCAAAAGAAGCGAAAGCAGGGACTCAATACCTGTACACATGTTCATAACAGCATTATTCACCAAATAGCCAAAAGGCAGGGGAAACCCAAGTGTCCATAAACTGATGAATAAACAAAGTGTGATACTGGCATACAATGAAAAATTCTTCAGGCTTAAGCAAGAAAATTCTGACATATGCTACCTGGAGGAAACTTGAAGACATTATGCTAAGTGAAATAAGCCAGTCACAAAAAAACAAAATTCTGTGTGACTCCACTTATATGAGGTGTTTAGGGTAGTCAAAATGTTAGAGACAGAAAGTAGAATGGTGGCTGGTTTACAGTGAACACACACCTCTGAAAATAACATACATAGCATAGAGGTTGTGGAAGAAAGAGAAGGTTTGGGATTTAAATAAAACCAACAAAATGTTGGCCAAATCTGGCTTTATGGAAAAATTCAATGTCTCTTTGTCCTGTTGGCTATAGACAGGTTTCTGAAAATTTATTATCTTTTTACTAAAGGGAACCTGCCCAAGTCCTCATGTTCTTTCCTTAGAGGAGCTGGGGTTGCATAGCTTGGAGCAGAGAAGAGGAGAGCAGGAGGCAGATCATGATTGTGACCTTCAACTCACCTTCATGTCAACCCAAGACAAGAGTCCTCCTTGGTTAACTAGTGGCAATAACAATAACCAGTTGTAGGAAGGCTGTAGAGAGGAAGATTTCAGCATAATATTGCAAAGGGCCATATTTAAGTCTGTACTTAAAGAGTACAGACTTGGAAAAGTTTTACAGCTGGATGGTGGTGATGGCCATACAACAATGTGATTGTACTTAATGCCACAGAACTGGACACTTAGAAACAGTGAAAATGGTTGATTTTATATTATGTATATTTTACCAAAAAATTTTAAACAATTCATTAATGTAAACATAAGGGGGGATGGATAGTGACTTAATAGTGACTTCACAGTGGAGAAACATGGCAGACACCAGCTTAACCAAAAGGCCAAGGTCAACATCACCAGTGACGGGACATGTTGTGCACCTCCTGATACAATGCACTGGAAAGAGCACAACATGACCTCCATGATATTCTTGCCAGCAGTGCATAACCTGAATCTAATCAGGACATCAATAGAACTCAAACTGAAAAACGTGACAAAATAACTGACTGACCTATACTTTTTCAAGAAATATCTGTGTCAGGCCATACACTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG
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Task1_train_13396
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Here is a mutation in SETX (senataxin) on Chromosome 9. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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AGTACTTTATCTTAAATAACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATCTACCTCCAGACAAAACCTTAGTCCATTCTACAAATGACATAGATTTATTAATATATATTCTGACATGGGAGGATGTCCCTGATTTACTGATTGAAAAAAAAACCAATTCTGCACAGAATGATTTTGCCACCTTTAAACAAAACCAAACCCACGTACATATACACATAAACATATACATGTATACAAACCATATACCACTTTTTAGTAACTGACTCACTGTTAACCCCTAGAATACAAACACCATAAGGGCAGGGATTTTGTCTGTTTTCTTCACTGTCATAACCCCAGCCCCTAAACAGTGCCTGAATTATGGTGGCACTCAATATATACATACTGAAAAAGACGAATAAACACACAAATGCCTAGCAATATCTGTTAAAAATACTCACTTTCACTGTAATTACCACTAGAAACAGGTGGTCAAAAAAGGCACCTTATGGAAATGAACTTTGTAATTATTTTCTCAAAATAGCCTGTTTTATTTGTACAACAATTTAAACAGCACAAATGGATTTTTTTTTTCTAATTTTTGTTGTTTTTATCAATCATTGAAGTAGGCAGTAAAGTTGAGGCCCATTAACAATCTCTCTTTTCACTATATGCCAAGGCCCTTCAATGAAATCCTGCATCATTTAAAGAAATGGGATACAGAATTTGCTCTTCATTATTCTCCGTGAACAAAGTTACCTGCAGCAGTTCTTCCCTACACACACGGGTTTTCACTGGGTGACGGGTGTGCTTCTGGGCCACACTCTAACATGATCATGTACCTGCGCTCAAATGTCATACAAAGAACTGCACTATCATTCTGAATAATTCCGAAATCAAAAACCACTAACGATAACCACCTGCATTCATTCCAAGCTTCAACAAAAATGCTTTGAAAATGATCTGTTCTCTAGGATTATTTATGAAGCCACTGCTCAATTATCTGTATAAATAATCTATGTTATTAGTAAAAAATACACATTTCATTAAATTTCAAAACCTCTTCAGATTACTTCAAAACATCTACTGGATCCTGATTCTAATGTGCATTTCCAGGAGAATCTTTCATGAGATTAAAAAAAACCAACAGAGAAGAGTAGACTACAGTCTGGTTCTTCTCTTCCCAAAGTCAGAGCTTGTAATTGAGTCTTTTTTTCCCCTGTACCTTCACTTTCAGATGATGTGAAGGGCACAGACATGTTCTTGTATTAACACTAGAATACCAAATTCTAAAAATGGAAATGTACTCCAAAATTAATTTAACTTCATGTTTTCCTCAATTTGTACATATTTAAACAAAAATGAGGAGGGTAGGATTCTTCTCTTTATTTCTGAAGTTTTTCTTTTATTATTGTTTTGGTGTTTGTATGATTAAAATAAATCAGATTCAGCTCTTAAGAGACTTAAAAAAGGCAGACATGCACACTGCCTTTCCCAAAGCTTGGTTTCCATGGCACGTCATCCATCTAGGCTTCCAAGTCCCTGCCACACTGCTTCTGCCACACATACACAGAAGAACAACTATGACCAAATGGACATTTTTAGGCATTTTTTAAAATTTATTAAGTGCTTCTCTTTTCTTAGTTACTGCTTACTTTTCCCTCCAAATTAAGAGGCCAATCCAAGAAAGATGTCTCTCCCTCCTGAAAACAAAAATTTTAAAAAGCCCCTTCCATTTTAAAGCAATCTGAACATAAAAAACTTACCATAGAGATGACTGTCGGAGGGAGCTGCTTAGGATCTCCTACTAGGATGAGCTTATTGCAGCGATGGATGAGTGGAGTAAGAGTCTCAATTTCACAAGACTGTCCAGCCTTGGTAAGATACAGAAGAGAGAGGCAGTCTTAACAATCTTTGCTATTTATCCATATAGTTTATCTGATTAAAGTTCTAACCATTCAGAAAAGTATCACACTTCTCCTGCACCAAATATCAAAAATACAAATTTTCCCTGAAAACAAAAAAACAAAACAAAACCAACAAAATAAACCCTCCAGGCTGTGTGCAGTGGCTAACACACGTAATGCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCCGGAGTTCAAGACCAGCCTGGCCAACATGGCGCAACCAAAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACATCACTGCACTCCGGTCTGGGTGAGTGCAGACTCCGTCTCTAAAAAAAAAAAAAAAAAAAGCAAGACTCCGTCTCAAAAAAAACAATAAATAAATAAAAAGTAAACTCTCCAAACATGTCTAAAAAAAAAATCAAACTTGTATTTTTGAAGTCAGCCACCAACGGGGCCACTACCACTTGGGAACCAGCCGTAAGTTCAGAAGGCCATGCACATCCTAGATGCGTGCTTTTTGTTCCTGCTGGGCATGAGCCTGAAAAATTTTTCTCCTTTAAAGTCCTTTTAAAACTTTATTTTAAATTTTTTATTTATTTTTTAACTTATTTTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCACCCAGGCTGGAGGGCAATGACATGATCGTTGTTCACCGCCTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCGAATAACTGGAATGACAGGCACACACCATCAACTCCTGGCTCATTTTTGTCTTTTTAGTAGAGACAAGGTTTCACCATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCTCAAGCGATCCACCCTCCTCAGTCTCCCAAAGTGCCAGGATTACAGGTGTGCACCACCATGCCCAGGCCCTTTTCAAAACTTTGTATTTGAGGTTCAGAAATCACATTAGGAGCGTCCATGAGTGTGTTTCCCCATATCTTTCTTCCTTGTTCCTCAGCATGCCTCTTTGATGACAAGACTCAAATTTCTCTTAAATTCAATGACATTTTCTTCAACTATTTAATCATTTCCACTTTTTGTCCTTTCCTTCTGGTGAAAACTGGATCTTGGGTCTCCTGATCACTCAATTCTCTGGTATCTCCTGCTCCATCTCTTTTGTCTTCTGACTCTACGTTCTGACAAACAGTACGTACCCAATAAATGTTTGCTCAAAGAGTGAACTAGGAATAAAAGACATCAGGTGAACATACTGTGGCTCAAAGCTATCCAAAATTATATTAAAACTACTTCAAAAGGTTACCAGAGATATTCTAAGCAGGAGTGAGACAGTCACTCAGCAGAGATTTTGTTAGAAACCATCAGTCATCCTCAAGACTAACCCCCAATACTGGAAAATCCACTTTCACTATGGAGGGTCATTAAGGAGTATATTTCTACATAAGGGAATACACAGGTAATAGCAAGTGAAAATCAGATGCAAAAAAAAAAAACACATTTCCTCAACATTTCAGCAGCCACAATTCATCTAAGACTTACTCCTCATAGTAGTAGTCAAAGTTGTATGGCTGACCGTTCACTGACCTCATCAACAATGACACAGCTGAAGGGGACACCCCCTTGCCCACGGAAAGCAGACTCAAGTAGTAAACCACCACTTGTGCTCAACGTGCAGCAGATGATATGGGACTCTAAGATGATGATACTCTGTGTTTTCTGTGGGCGTCCTTGAACCTAAGAGAACAAAGGTTAAATCAATATTCAGCTGTACATCAATCCTTGACTATGACAGGCCTATGTTTACTATAAAACACTCACTATTTATTAAAATAGATTTATGACAGAAAAATA
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AGTACTTTATCTTAAATAACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATCTACCTCCAGACAAAACCTTAGTCCATTCTACAAATGACATAGATTTATTAATATATATTCTGACATGGGAGGATGTCCCTGATTTACTGATTGAAAAAAAAACCAATTCTGCACAGAATGATTTTGCCACCTTTAAACAAAACCAAACCCACGTACATATACACATAAACATATACATGTATACAAACCATATACCACTTTTTAGTAACTGACTCACTGTTAACCCCTAGAATACAAACACCATAAGGGCAGGGATTTTGTCTGTTTTCTTCACTGTCATAACCCCAGCCCCTAAACAGTGCCTGAATTATGGTGGCACTCAATATATACATACTGAAAAAGACGAATAAACACACAAATGCCTAGCAATATCTGTTAAAAATACTCACTTTCACTGTAATTACCACTAGAAACAGGTGGTCAAAAAAGGCACCTTATGGAAATGAACTTTGTAATTATTTTCTCAAAATAGCCTGTTTTATTTGTACAACAATTTAAACAGCACAAATGGATTTTTTTTTTCTAATTTTTGTTGTTTTTATCAATCATTGAAGTAGGCAGTAAAGTTGAGGCCCATTAACAATCTCTCTTTTCACTATATGCCAAGGCCCTTCAATGAAATCCTGCATCATTTAAAGAAATGGGATACAGAATTTGCTCTTCATTATTCTCCGTGAACAAAGTTACCTGCAGCAGTTCTTCCCTACACACACGGGTTTTCACTGGGTGACGGGTGTGCTTCTGGGCCACACTCTAACATGATCATGTACCTGCGCTCAAATGTCATACAAAGAACTGCACTATCATTCTGAATAATTCCGAAATCAAAAACCACTAACGATAACCACCTGCATTCATTCCAAGCTTCAACAAAAATGCTTTGAAAATGATCTGTTCTCTAGGATTATTTATGAAGCCACTGCTCAATTATCTGTATAAATAATCTATGTTATTAGTAAAAAATACACATTTCATTAAATTTCAAAACCTCTTCAGATTACTTCAAAACATCTACTGGATCCTGATTCTAATGTGCATTTCCAGGAGAATCTTTCATGAGATTAAAAAAAACCAACAGAGAAGAGTAGACTACAGTCTGGTTCTTCTCTTCCCAAAGTCAGAGCTTGTAATTGAGTCTTTTTTTCCCCTGTACCTTCACTTTCAGATGATGTGAAGGGCACAGACATGTTCTTGTATTAACACTAGAATACCAAATTCTAAAAATGGAAATGTACTCCAAAATTAATTTAACTTCATGTTTTCCTCAATTTGTACATATTTAAACAAAAATGAGGAGGGTAGGATTCTTCTCTTTATTTCTGAAGTTTTTCTTTTATTATTGTTTTGGTGTTTGTATGATTAAAATAAATCAGATTCAGCTCTTAAGAGACTTAAAAAAGGCAGACATGCACACTGCCTTTCCCAAAGCTTGGTTTCCATGGCACGTCATCCATCTAGGCTTCCAAGTCCCTGCCACACTGCTTCTGCCACACATACACAGAAGAACAACTATGACCAAATGGACATTTTTAGGCATTTTTTAAAATTTATTAAGTGCTTCTCTTTTCTTAGTTACTGCTTACTTTTCCCTCCAAATTAAGAGGCCAATCCAAGAAAGATGTCTCTCCCTCCTGAAAACAAAAATTTTAAAAAGCCCCTTCCATTTTAAAGCAATCTGAACATAAAAAACTTACCATAGAGATGACTGTCAGAGGGAGCTGCTTAGGATCTCCTACTAGGATGAGCTTATTGCAGCGATGGATGAGTGGAGTAAGAGTCTCAATTTCACAAGACTGTCCAGCCTTGGTAAGATACAGAAGAGAGAGGCAGTCTTAACAATCTTTGCTATTTATCCATATAGTTTATCTGATTAAAGTTCTAACCATTCAGAAAAGTATCACACTTCTCCTGCACCAAATATCAAAAATACAAATTTTCCCTGAAAACAAAAAAACAAAACAAAACCAACAAAATAAACCCTCCAGGCTGTGTGCAGTGGCTAACACACGTAATGCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCCGGAGTTCAAGACCAGCCTGGCCAACATGGCGCAACCAAAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACATCACTGCACTCCGGTCTGGGTGAGTGCAGACTCCGTCTCTAAAAAAAAAAAAAAAAAAAGCAAGACTCCGTCTCAAAAAAAACAATAAATAAATAAAAAGTAAACTCTCCAAACATGTCTAAAAAAAAAATCAAACTTGTATTTTTGAAGTCAGCCACCAACGGGGCCACTACCACTTGGGAACCAGCCGTAAGTTCAGAAGGCCATGCACATCCTAGATGCGTGCTTTTTGTTCCTGCTGGGCATGAGCCTGAAAAATTTTTCTCCTTTAAAGTCCTTTTAAAACTTTATTTTAAATTTTTTATTTATTTTTTAACTTATTTTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCACCCAGGCTGGAGGGCAATGACATGATCGTTGTTCACCGCCTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCGAATAACTGGAATGACAGGCACACACCATCAACTCCTGGCTCATTTTTGTCTTTTTAGTAGAGACAAGGTTTCACCATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCTCAAGCGATCCACCCTCCTCAGTCTCCCAAAGTGCCAGGATTACAGGTGTGCACCACCATGCCCAGGCCCTTTTCAAAACTTTGTATTTGAGGTTCAGAAATCACATTAGGAGCGTCCATGAGTGTGTTTCCCCATATCTTTCTTCCTTGTTCCTCAGCATGCCTCTTTGATGACAAGACTCAAATTTCTCTTAAATTCAATGACATTTTCTTCAACTATTTAATCATTTCCACTTTTTGTCCTTTCCTTCTGGTGAAAACTGGATCTTGGGTCTCCTGATCACTCAATTCTCTGGTATCTCCTGCTCCATCTCTTTTGTCTTCTGACTCTACGTTCTGACAAACAGTACGTACCCAATAAATGTTTGCTCAAAGAGTGAACTAGGAATAAAAGACATCAGGTGAACATACTGTGGCTCAAAGCTATCCAAAATTATATTAAAACTACTTCAAAAGGTTACCAGAGATATTCTAAGCAGGAGTGAGACAGTCACTCAGCAGAGATTTTGTTAGAAACCATCAGTCATCCTCAAGACTAACCCCCAATACTGGAAAATCCACTTTCACTATGGAGGGTCATTAAGGAGTATATTTCTACATAAGGGAATACACAGGTAATAGCAAGTGAAAATCAGATGCAAAAAAAAAAAACACATTTCCTCAACATTTCAGCAGCCACAATTCATCTAAGACTTACTCCTCATAGTAGTAGTCAAAGTTGTATGGCTGACCGTTCACTGACCTCATCAACAATGACACAGCTGAAGGGGACACCCCCTTGCCCACGGAAAGCAGACTCAAGTAGTAAACCACCACTTGTGCTCAACGTGCAGCAGATGATATGGGACTCTAAGATGATGATACTCTGTGTTTTCTGTGGGCGTCCTTGAACCTAAGAGAACAAAGGTTAAATCAATATTCAGCTGTACATCAATCCTTGACTATGACAGGCCTATGTTTACTATAAAACACTCACTATTTATTAAAATAGATTTATGACAGAAAAATA
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Task1_train_13397
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The gene SETX (senataxin), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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ACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATCTACCTCCAGACAAAACCTTAGTCCATTCTACAAATGACATAGATTTATTAATATATATTCTGACATGGGAGGATGTCCCTGATTTACTGATTGAAAAAAAAACCAATTCTGCACAGAATGATTTTGCCACCTTTAAACAAAACCAAACCCACGTACATATACACATAAACATATACATGTATACAAACCATATACCACTTTTTAGTAACTGACTCACTGTTAACCCCTAGAATACAAACACCATAAGGGCAGGGATTTTGTCTGTTTTCTTCACTGTCATAACCCCAGCCCCTAAACAGTGCCTGAATTATGGTGGCACTCAATATATACATACTGAAAAAGACGAATAAACACACAAATGCCTAGCAATATCTGTTAAAAATACTCACTTTCACTGTAATTACCACTAGAAACAGGTGGTCAAAAAAGGCACCTTATGGAAATGAACTTTGTAATTATTTTCTCAAAATAGCCTGTTTTATTTGTACAACAATTTAAACAGCACAAATGGATTTTTTTTTTCTAATTTTTGTTGTTTTTATCAATCATTGAAGTAGGCAGTAAAGTTGAGGCCCATTAACAATCTCTCTTTTCACTATATGCCAAGGCCCTTCAATGAAATCCTGCATCATTTAAAGAAATGGGATACAGAATTTGCTCTTCATTATTCTCCGTGAACAAAGTTACCTGCAGCAGTTCTTCCCTACACACACGGGTTTTCACTGGGTGACGGGTGTGCTTCTGGGCCACACTCTAACATGATCATGTACCTGCGCTCAAATGTCATACAAAGAACTGCACTATCATTCTGAATAATTCCGAAATCAAAAACCACTAACGATAACCACCTGCATTCATTCCAAGCTTCAACAAAAATGCTTTGAAAATGATCTGTTCTCTAGGATTATTTATGAAGCCACTGCTCAATTATCTGTATAAATAATCTATGTTATTAGTAAAAAATACACATTTCATTAAATTTCAAAACCTCTTCAGATTACTTCAAAACATCTACTGGATCCTGATTCTAATGTGCATTTCCAGGAGAATCTTTCATGAGATTAAAAAAAACCAACAGAGAAGAGTAGACTACAGTCTGGTTCTTCTCTTCCCAAAGTCAGAGCTTGTAATTGAGTCTTTTTTTCCCCTGTACCTTCACTTTCAGATGATGTGAAGGGCACAGACATGTTCTTGTATTAACACTAGAATACCAAATTCTAAAAATGGAAATGTACTCCAAAATTAATTTAACTTCATGTTTTCCTCAATTTGTACATATTTAAACAAAAATGAGGAGGGTAGGATTCTTCTCTTTATTTCTGAAGTTTTTCTTTTATTATTGTTTTGGTGTTTGTATGATTAAAATAAATCAGATTCAGCTCTTAAGAGACTTAAAAAAGGCAGACATGCACACTGCCTTTCCCAAAGCTTGGTTTCCATGGCACGTCATCCATCTAGGCTTCCAAGTCCCTGCCACACTGCTTCTGCCACACATACACAGAAGAACAACTATGACCAAATGGACATTTTTAGGCATTTTTTAAAATTTATTAAGTGCTTCTCTTTTCTTAGTTACTGCTTACTTTTCCCTCCAAATTAAGAGGCCAATCCAAGAAAGATGTCTCTCCCTCCTGAAAACAAAAATTTTAAAAAGCCCCTTCCATTTTAAAGCAATCTGAACATAAAAAACTTACCATAGAGATGACTGTCGGAGGGAGCTGCTTAGGATCTCCTACTAGGATGAGCTTATTGCAGCGATGGATGAGTGGAGTAAGAGTCTCAATTTCACAAGACTGTCCAGCCTTGGTAAGATACAGAAGAGAGAGGCAGTCTTAACAATCTTTGCTATTTATCCATATAGTTTATCTGATTAAAGTTCTAACCATTCAGAAAAGTATCACACTTCTCCTGCACCAAATATCAAAAATACAAATTTTCCCTGAAAACAAAAAAACAAAACAAAACCAACAAAATAAACCCTCCAGGCTGTGTGCAGTGGCTAACACACGTAATGCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCCGGAGTTCAAGACCAGCCTGGCCAACATGGCGCAACCAAAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACATCACTGCACTCCGGTCTGGGTGAGTGCAGACTCCGTCTCTAAAAAAAAAAAAAAAAAAAGCAAGACTCCGTCTCAAAAAAAACAATAAATAAATAAAAAGTAAACTCTCCAAACATGTCTAAAAAAAAAATCAAACTTGTATTTTTGAAGTCAGCCACCAACGGGGCCACTACCACTTGGGAACCAGCCGTAAGTTCAGAAGGCCATGCACATCCTAGATGCGTGCTTTTTGTTCCTGCTGGGCATGAGCCTGAAAAATTTTTCTCCTTTAAAGTCCTTTTAAAACTTTATTTTAAATTTTTTATTTATTTTTTAACTTATTTTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCACCCAGGCTGGAGGGCAATGACATGATCGTTGTTCACCGCCTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCGAATAACTGGAATGACAGGCACACACCATCAACTCCTGGCTCATTTTTGTCTTTTTAGTAGAGACAAGGTTTCACCATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCTCAAGCGATCCACCCTCCTCAGTCTCCCAAAGTGCCAGGATTACAGGTGTGCACCACCATGCCCAGGCCCTTTTCAAAACTTTGTATTTGAGGTTCAGAAATCACATTAGGAGCGTCCATGAGTGTGTTTCCCCATATCTTTCTTCCTTGTTCCTCAGCATGCCTCTTTGATGACAAGACTCAAATTTCTCTTAAATTCAATGACATTTTCTTCAACTATTTAATCATTTCCACTTTTTGTCCTTTCCTTCTGGTGAAAACTGGATCTTGGGTCTCCTGATCACTCAATTCTCTGGTATCTCCTGCTCCATCTCTTTTGTCTTCTGACTCTACGTTCTGACAAACAGTACGTACCCAATAAATGTTTGCTCAAAGAGTGAACTAGGAATAAAAGACATCAGGTGAACATACTGTGGCTCAAAGCTATCCAAAATTATATTAAAACTACTTCAAAAGGTTACCAGAGATATTCTAAGCAGGAGTGAGACAGTCACTCAGCAGAGATTTTGTTAGAAACCATCAGTCATCCTCAAGACTAACCCCCAATACTGGAAAATCCACTTTCACTATGGAGGGTCATTAAGGAGTATATTTCTACATAAGGGAATACACAGGTAATAGCAAGTGAAAATCAGATGCAAAAAAAAAAAACACATTTCCTCAACATTTCAGCAGCCACAATTCATCTAAGACTTACTCCTCATAGTAGTAGTCAAAGTTGTATGGCTGACCGTTCACTGACCTCATCAACAATGACACAGCTGAAGGGGACACCCCCTTGCCCACGGAAAGCAGACTCAAGTAGTAAACCACCACTTGTGCTCAACGTGCAGCAGATGATATGGGACTCTAAGATGATGATACTCTGTGTTTTCTGTGGGCGTCCTTGAACCTAAGAGAACAAAGGTTAAATCAATATTCAGCTGTACATCAATCCTTGACTATGACAGGCCTATGTTTACTATAAAACACTCACTATTTATTAAAATAGATTTATGACAGAAAAATATTTAGTAAAAGTTAGGGG
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ACCCTGAAGTAAAAATGTGCTGAAAACTTCACTAAGATGATGGAATCTTCATGAGTGATGTGAAAGATACTGGCACTGAAGACGTGCAAAGCCTGAATAAACTTGTTTCACAAACTATGGGAGTGGAAGAAAGGCATTACTTCTTAACCTATTTATATGTGTGATTTTAAACAGGTTTGTGAAAGCATAAAATAATTATTAATAGATACATGCCAATTTTCCCTAAATCCTCAAAAGTTTATCTGCGTTAGCTCACAAAACCTAATTTTTAATCTTTTCTTTGGGGAAACAGAAAAGGAAGTTATGTAAGGTAACGCATCTACCTCCAGACAAAACCTTAGTCCATTCTACAAATGACATAGATTTATTAATATATATTCTGACATGGGAGGATGTCCCTGATTTACTGATTGAAAAAAAAACCAATTCTGCACAGAATGATTTTGCCACCTTTAAACAAAACCAAACCCACGTACATATACACATAAACATATACATGTATACAAACCATATACCACTTTTTAGTAACTGACTCACTGTTAACCCCTAGAATACAAACACCATAAGGGCAGGGATTTTGTCTGTTTTCTTCACTGTCATAACCCCAGCCCCTAAACAGTGCCTGAATTATGGTGGCACTCAATATATACATACTGAAAAAGACGAATAAACACACAAATGCCTAGCAATATCTGTTAAAAATACTCACTTTCACTGTAATTACCACTAGAAACAGGTGGTCAAAAAAGGCACCTTATGGAAATGAACTTTGTAATTATTTTCTCAAAATAGCCTGTTTTATTTGTACAACAATTTAAACAGCACAAATGGATTTTTTTTTTCTAATTTTTGTTGTTTTTATCAATCATTGAAGTAGGCAGTAAAGTTGAGGCCCATTAACAATCTCTCTTTTCACTATATGCCAAGGCCCTTCAATGAAATCCTGCATCATTTAAAGAAATGGGATACAGAATTTGCTCTTCATTATTCTCCGTGAACAAAGTTACCTGCAGCAGTTCTTCCCTACACACACGGGTTTTCACTGGGTGACGGGTGTGCTTCTGGGCCACACTCTAACATGATCATGTACCTGCGCTCAAATGTCATACAAAGAACTGCACTATCATTCTGAATAATTCCGAAATCAAAAACCACTAACGATAACCACCTGCATTCATTCCAAGCTTCAACAAAAATGCTTTGAAAATGATCTGTTCTCTAGGATTATTTATGAAGCCACTGCTCAATTATCTGTATAAATAATCTATGTTATTAGTAAAAAATACACATTTCATTAAATTTCAAAACCTCTTCAGATTACTTCAAAACATCTACTGGATCCTGATTCTAATGTGCATTTCCAGGAGAATCTTTCATGAGATTAAAAAAAACCAACAGAGAAGAGTAGACTACAGTCTGGTTCTTCTCTTCCCAAAGTCAGAGCTTGTAATTGAGTCTTTTTTTCCCCTGTACCTTCACTTTCAGATGATGTGAAGGGCACAGACATGTTCTTGTATTAACACTAGAATACCAAATTCTAAAAATGGAAATGTACTCCAAAATTAATTTAACTTCATGTTTTCCTCAATTTGTACATATTTAAACAAAAATGAGGAGGGTAGGATTCTTCTCTTTATTTCTGAAGTTTTTCTTTTATTATTGTTTTGGTGTTTGTATGATTAAAATAAATCAGATTCAGCTCTTAAGAGACTTAAAAAAGGCAGACATGCACACTGCCTTTCCCAAAGCTTGGTTTCCATGGCACGTCATCCATCTAGGCTTCCAAGTCCCTGCCACACTGCTTCTGCCACACATACACAGAAGAACAACTATGACCAAATGGACATTTTTAGGCATTTTTTAAAATTTATTAAGTGCTTCTCTTTTCTTAGTTACTGCTTACTTTTCCCTCCAAATTAAGAGGCCAATCCAAGAAAGATGTCTCTCCCTCCTGAAAACAAAAATTTTAAAAAGCCCCTTCCATTTTAAAGCAATCTGAACATAAAAAACTTACCATAGAGATGACTGTCGGAGGGAGCTGCTTAGGAACTCCTACTAGGATGAGCTTATTGCAGCGATGGATGAGTGGAGTAAGAGTCTCAATTTCACAAGACTGTCCAGCCTTGGTAAGATACAGAAGAGAGAGGCAGTCTTAACAATCTTTGCTATTTATCCATATAGTTTATCTGATTAAAGTTCTAACCATTCAGAAAAGTATCACACTTCTCCTGCACCAAATATCAAAAATACAAATTTTCCCTGAAAACAAAAAAACAAAACAAAACCAACAAAATAAACCCTCCAGGCTGTGTGCAGTGGCTAACACACGTAATGCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCCGGAGTTCAAGACCAGCCTGGCCAACATGGCGCAACCAAAAAAATTAGCTGGGCGTGGTGGCAAGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACATCACTGCACTCCGGTCTGGGTGAGTGCAGACTCCGTCTCTAAAAAAAAAAAAAAAAAAAGCAAGACTCCGTCTCAAAAAAAACAATAAATAAATAAAAAGTAAACTCTCCAAACATGTCTAAAAAAAAAATCAAACTTGTATTTTTGAAGTCAGCCACCAACGGGGCCACTACCACTTGGGAACCAGCCGTAAGTTCAGAAGGCCATGCACATCCTAGATGCGTGCTTTTTGTTCCTGCTGGGCATGAGCCTGAAAAATTTTTCTCCTTTAAAGTCCTTTTAAAACTTTATTTTAAATTTTTTATTTATTTTTTAACTTATTTTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCACCCAGGCTGGAGGGCAATGACATGATCGTTGTTCACCGCCTCCCGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCGAATAACTGGAATGACAGGCACACACCATCAACTCCTGGCTCATTTTTGTCTTTTTAGTAGAGACAAGGTTTCACCATGTTGCCCAGGTTGGTCTCAAACTCCTGGGCTCAAGCGATCCACCCTCCTCAGTCTCCCAAAGTGCCAGGATTACAGGTGTGCACCACCATGCCCAGGCCCTTTTCAAAACTTTGTATTTGAGGTTCAGAAATCACATTAGGAGCGTCCATGAGTGTGTTTCCCCATATCTTTCTTCCTTGTTCCTCAGCATGCCTCTTTGATGACAAGACTCAAATTTCTCTTAAATTCAATGACATTTTCTTCAACTATTTAATCATTTCCACTTTTTGTCCTTTCCTTCTGGTGAAAACTGGATCTTGGGTCTCCTGATCACTCAATTCTCTGGTATCTCCTGCTCCATCTCTTTTGTCTTCTGACTCTACGTTCTGACAAACAGTACGTACCCAATAAATGTTTGCTCAAAGAGTGAACTAGGAATAAAAGACATCAGGTGAACATACTGTGGCTCAAAGCTATCCAAAATTATATTAAAACTACTTCAAAAGGTTACCAGAGATATTCTAAGCAGGAGTGAGACAGTCACTCAGCAGAGATTTTGTTAGAAACCATCAGTCATCCTCAAGACTAACCCCCAATACTGGAAAATCCACTTTCACTATGGAGGGTCATTAAGGAGTATATTTCTACATAAGGGAATACACAGGTAATAGCAAGTGAAAATCAGATGCAAAAAAAAAAAACACATTTCCTCAACATTTCAGCAGCCACAATTCATCTAAGACTTACTCCTCATAGTAGTAGTCAAAGTTGTATGGCTGACCGTTCACTGACCTCATCAACAATGACACAGCTGAAGGGGACACCCCCTTGCCCACGGAAAGCAGACTCAAGTAGTAAACCACCACTTGTGCTCAACGTGCAGCAGATGATATGGGACTCTAAGATGATGATACTCTGTGTTTTCTGTGGGCGTCCTTGAACCTAAGAGAACAAAGGTTAAATCAATATTCAGCTGTACATCAATCCTTGACTATGACAGGCCTATGTTTACTATAAAACACTCACTATTTATTAAAATAGATTTATGACAGAAAAATATTTAGTAAAAGTTAGGGG
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Task1_train_13398
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The gene SETX (senataxin) on Chromosome 9 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
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CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATATCCAACCTAGACACCTCGTTTGCCTCACCTTAGTCCTGGCCCGGCTGTGCAGTCAACATACACCTGAAAAGCAGCTTAAGCTCACGCCACCAGGGAAAGTTAAATTAAAACTACCAACTGTACACTGCACAGGGACTGCTCTCAGGAGCTAACTGGTACAATCACTTTCAAGAAGAATTTGGCACTACCTAGAAAACTGAAGATGTACAAACTCTTGAACCCCCACATTTTCAATTCTAGATATACATATGCTAGATACCCATGTTTTAATAAAGTTTTGTAATGCTCAAGTTTGAAATAAAAAATTGAAAAGAAACTAAATTATCAATGAATAAATGTTGCACACCTTCAATGAAACACCCTATAGCAGTTAATATGAGTGACTGCAGCTATTCACAAAATCAATCTCACAAATGTAAAGGCAAGTGGAAAAAAGTAAATCAGAGACTGACAATGTATTGTATGTTTTAAGAGCAAATGAATTCTACGTGTAGGTAATACATATGTGATACAAAGGAAAATGTGTGTGATTCCTCAGAATAAAGATGACATGTTCCAGCCTCTCTTATACCTCGGTGTGGCCGAAAGGAAATAAGCAGAGGCGCTATTGGCAGGACCTAGAAACTTTCCTTGTAACATAGCTAGTATGTTCCCTCTGCCCCTTCTTCATCTTTTCCTCACACTTGCTGGAGCTGGAGCAGCTATCCTGACCGCAGGTGCACTCGAGAATGGAGGCCACACATGGTGAAGCAACCAGATGGAGGCTGGGTCTCCAAGGACTCTCTAAGGCAGAGTAGCCATACCAGTGACTCTGGTACCAGTTCTGAACTGCCCACCTCTGGGTTTTTGATTTTTAAAAAAAAGAAGTAAACTTCTGTTATATTTAAAAGCCACTGTATTTGGAGTCTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATTATTATCTACATTCTACCGAAAAAAGTTATCCCTCTAGTGTATTTAACATTTCTAAGCTTCAGTTTCCCCACCTATAAAATACAGATGGTAGGGTTAACACCAAGTTCATGGGATTATTTTGAGAATTACTGACACACAGTCAACACTCAGTGACTGTAAACAATGACTGTTTTCACTGTTTTCAATAAGCTTGTGCTTACTCAAAGCCTCATCTTTCACCGCCACCTAATGCTCTGGGAACCTCAAGAACCATCTGAGGCTCTCTTGCCCTGATTCTTTTTTTTTATGGCAATCTCTGCTGCTCAAGTACTCCCTAACCCTCTACTGCCTGTGGCTAACTCCTAACTGCCCTTCTCTAACCCTCACACAACTGAATCAGGGTCCCCCTAAGGTGTGTGGAACACCCCACATTTTAGCCTCACTGTGGAACTTATCACTCTGTACTGACCTCTCCACTTCCTCACTAGGCCGTGTGTCTCCTTGAAGACTTCACTGATGAAACCTCAGTACCTGGCACAGGCCCTGGCACAGGGTAAATGTTCAATGAAATACTTGCTAAATGAACTCACAAGCCACAGATTCAAGTAGAAGCTATTACCAGGACTGGCCTGCTCTTTCCTTTGTCATTCAAAGTTGCCTACACTTAACACTGAAAACAAAAACAAATTTAAAATCCACAAAAGTATCATACCTAAAGGATTCTTCTTGTCTTTACATTTTTCTTTGAATTCAAGGATAATTTTTTTCATGAGTTCATCAACAGCTGCATTGGAAGGTGCACACACGAGGACACGGTTTTGTTTGATTTTGGCATTGGAGTTTTCGTCTGAATGCCCCTTCCTCTGGTTCTACAATTTGCCACATATACATACCAAACAAACACACAAAAAATATGGGTGAGCTCTATTACATAGCTTTAAAGTTTGTCTTTACTTCCATGTATTTTTGAAAGTTCTCGTAATAAAGTTAAAAATAAATAAAAGCATCTACATCTAACACTGATATTTAAAATTACTCCAGCAAAAAAATTTGTCATAACTGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGGGTGGTGGTGTACGCCTGTAATCCCAGCCACTAGGGAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGACCTGGGAGGCAGAGGTTGCTGTGAGTCAAGATCGTGCCACTGTACCCTAACCTGGATGACAGCGAGACACTGTCTCAAAAAAAAAAAACAAAAAACCACAATCCAACCAAAATGCAGCCCAGCATTCACAGCATTCTACGTGACCTACCGTGAAGCCTGAAGACCATCATTCTAGTCCTTACGATTTGTTTCACATAAGATAGTGGTTTTTTCCTCTTTTTATTTCCCATAACCTTCCCTCCCTCTGCCACCCTTTTCTCTGACACAGTTACACACAATATAAAAAATATATACAAATCAAAGAGGAAATGGCATGTTAATACTTATTTACATGTCAGTTAACTCAAGTAAAGTAAAATGATACAGCTAGTTAACAGCATCAGTGCCCTCACCCATACCTACCTCTGTCAGTAGACGATAGAGGAGGCCAACAATAGTTTTTGATTTTCCTGTTCCAGGTGGTCCATGAATCAAGCAGATTTTGGCAACTGATGGTGAGTGTTTCACCATAGCATATGCAGTTTCTATTGCTTTCTTTTGATCTTCATTGAAATCTCTTAAGTACGCAATCTATATAAAAAACACATTTTTGAGAATGAGTTGCTGTTTCTGTAGTGGAATTTGAAAGGAAGAACATGAAAAAGACCTGTCCAAATTTCTTTCAATGCATGAGACAAAAGCTTTGGTTATGGTCAGACAAGACAAGGACACCAAAGTGACCTTTAATCTAAAAAGCACGTTCACTACTGGAAAGAAAGCTAATTACTTACTAATTACTAATTAGTGTCTGTAACGCTTCAAGTACTTACAAATACAACTGTACTTTTATTTTTTATTCTTACAAAGATAATCACAATAAATTGCATTTACTAATCCACAACTTTTCTTCTATTTACTACTCTGTTTTTTTCCTTCTTTAGTCAATTTTCTCCTTAGTGAAAACATCCCAAGACTATTTATTTCCTAGCACATGTGATACAGTGGAAAAAGCATGTATGCCAGGGGAAGATCTGGGTGTAAGCTTCACTTGCACTTACAAGCTAGGCCACTACGCTCCTAACCCAAGCCTTGGCCTCTGTTACTCATTAAATCTAGGATTCCTTAAGAGGTGAGAACAGACTGAGATAATGCACATGAAAGCCATAGCATACAGCTCTAGAGTTTCTAAATAGTTAGTTTCCTTTTGCATTTCTCTGTTAACTTCCTAGAGTTTATACACAGCTTCACATGTTCAGTTGACAACTTCATCTTTGCATTTCCAACAATACCGGCCAATTCTCCATCAATCATTCAAATGTAAATTTAACACCACTAAACCTGAGACTTCTCACCTAATGCACATTAAGTAGGCTGCTGACCTAACATTTTAATGTTGCTCTTCCAGCAACCTTCGACGCTTATTGTACTGTACCTTTTCCTGAAGTGAGCTGACTTA
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CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGTGTTGTGGCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGGGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATATCCAACCTAGACACCTCGTTTGCCTCACCTTAGTCCTGGCCCGGCTGTGCAGTCAACATACACCTGAAAAGCAGCTTAAGCTCACGCCACCAGGGAAAGTTAAATTAAAACTACCAACTGTACACTGCACAGGGACTGCTCTCAGGAGCTAACTGGTACAATCACTTTCAAGAAGAATTTGGCACTACCTAGAAAACTGAAGATGTACAAACTCTTGAACCCCCACATTTTCAATTCTAGATATACATATGCTAGATACCCATGTTTTAATAAAGTTTTGTAATGCTCAAGTTTGAAATAAAAAATTGAAAAGAAACTAAATTATCAATGAATAAATGTTGCACACCTTCAATGAAACACCCTATAGCAGTTAATATGAGTGACTGCAGCTATTCACAAAATCAATCTCACAAATGTAAAGGCAAGTGGAAAAAAGTAAATCAGAGACTGACAATGTATTGTATGTTTTAAGAGCAAATGAATTCTACGTGTAGGTAATACATATGTGATACAAAGGAAAATGTGTGTGATTCCTCAGAATAAAGATGACATGTTCCAGCCTCTCTTATACCTCGGTGTGGCCGAAAGGAAATAAGCAGAGGCGCTATTGGCAGGACCTAGAAACTTTCCTTGTAACATAGCTAGTATGTTCCCTCTGCCCCTTCTTCATCTTTTCCTCACACTTGCTGGAGCTGGAGCAGCTATCCTGACCGCAGGTGCACTCGAGAATGGAGGCCACACATGGTGAAGCAACCAGATGGAGGCTGGGTCTCCAAGGACTCTCTAAGGCAGAGTAGCCATACCAGTGACTCTGGTACCAGTTCTGAACTGCCCACCTCTGGGTTTTTGATTTTTAAAAAAAAGAAGTAAACTTCTGTTATATTTAAAAGCCACTGTATTTGGAGTCTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATTATTATCTACATTCTACCGAAAAAAGTTATCCCTCTAGTGTATTTAACATTTCTAAGCTTCAGTTTCCCCACCTATAAAATACAGATGGTAGGGTTAACACCAAGTTCATGGGATTATTTTGAGAATTACTGACACACAGTCAACACTCAGTGACTGTAAACAATGACTGTTTTCACTGTTTTCAATAAGCTTGTGCTTACTCAAAGCCTCATCTTTCACCGCCACCTAATGCTCTGGGAACCTCAAGAACCATCTGAGGCTCTCTTGCCCTGATTCTTTTTTTTTATGGCAATCTCTGCTGCTCAAGTACTCCCTAACCCTCTACTGCCTGTGGCTAACTCCTAACTGCCCTTCTCTAACCCTCACACAACTGAATCAGGGTCCCCCTAAGGTGTGTGGAACACCCCACATTTTAGCCTCACTGTGGAACTTATCACTCTGTACTGACCTCTCCACTTCCTCACTAGGCCGTGTGTCTCCTTGAAGACTTCACTGATGAAACCTCAGTACCTGGCACAGGCCCTGGCACAGGGTAAATGTTCAATGAAATACTTGCTAAATGAACTCACAAGCCACAGATTCAAGTAGAAGCTATTACCAGGACTGGCCTGCTCTTTCCTTTGTCATTCAAAGTTGCCTACACTTAACACTGAAAACAAAAACAAATTTAAAATCCACAAAAGTATCATACTTAAAGGATTCTTCTTGTCTTTACATTTTTCTTTGAATTCAAGGATAATTTTTTTCATGAGTTCATCAACAGCTGCATTGGAAGGTGCACACACGAGGACACGGTTTTGTTTGATTTTGGCATTGGAGTTTTCGTCTGAATGCCCCTTCCTCTGGTTCTACAATTTGCCACATATACATACCAAACAAACACACAAAAAATATGGGTGAGCTCTATTACATAGCTTTAAAGTTTGTCTTTACTTCCATGTATTTTTGAAAGTTCTCGTAATAAAGTTAAAAATAAATAAAAGCATCTACATCTAACACTGATATTTAAAATTACTCCAGCAAAAAAATTTGTCATAACTGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGGGTGGTGGTGTACGCCTGTAATCCCAGCCACTAGGGAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGACCTGGGAGGCAGAGGTTGCTGTGAGTCAAGATCGTGCCACTGTACCCTAACCTGGATGACAGCGAGACACTGTCTCAAAAAAAAAAAACAAAAAACCACAATCCAACCAAAATGCAGCCCAGCATTCACAGCATTCTACGTGACCTACCGTGAAGCCTGAAGACCATCATTCTAGTCCTTACGATTTGTTTCACATAAGATAGTGGTTTTTTCCTCTTTTTATTTCCCATAACCTTCCCTCCCTCTGCCACCCTTTTCTCTGACACAGTTACACACAATATAAAAAATATATACAAATCAAAGAGGAAATGGCATGTTAATACTTATTTACATGTCAGTTAACTCAAGTAAAGTAAAATGATACAGCTAGTTAACAGCATCAGTGCCCTCACCCATACCTACCTCTGTCAGTAGACGATAGAGGAGGCCAACAATAGTTTTTGATTTTCCTGTTCCAGGTGGTCCATGAATCAAGCAGATTTTGGCAACTGATGGTGAGTGTTTCACCATAGCATATGCAGTTTCTATTGCTTTCTTTTGATCTTCATTGAAATCTCTTAAGTACGCAATCTATATAAAAAACACATTTTTGAGAATGAGTTGCTGTTTCTGTAGTGGAATTTGAAAGGAAGAACATGAAAAAGACCTGTCCAAATTTCTTTCAATGCATGAGACAAAAGCTTTGGTTATGGTCAGACAAGACAAGGACACCAAAGTGACCTTTAATCTAAAAAGCACGTTCACTACTGGAAAGAAAGCTAATTACTTACTAATTACTAATTAGTGTCTGTAACGCTTCAAGTACTTACAAATACAACTGTACTTTTATTTTTTATTCTTACAAAGATAATCACAATAAATTGCATTTACTAATCCACAACTTTTCTTCTATTTACTACTCTGTTTTTTTCCTTCTTTAGTCAATTTTCTCCTTAGTGAAAACATCCCAAGACTATTTATTTCCTAGCACATGTGATACAGTGGAAAAAGCATGTATGCCAGGGGAAGATCTGGGTGTAAGCTTCACTTGCACTTACAAGCTAGGCCACTACGCTCCTAACCCAAGCCTTGGCCTCTGTTACTCATTAAATCTAGGATTCCTTAAGAGGTGAGAACAGACTGAGATAATGCACATGAAAGCCATAGCATACAGCTCTAGAGTTTCTAAATAGTTAGTTTCCTTTTGCATTTCTCTGTTAACTTCCTAGAGTTTATACACAGCTTCACATGTTCAGTTGACAACTTCATCTTTGCATTTCCAACAATACCGGCCAATTCTCCATCAATCATTCAAATGTAAATTTAACACCACTAAACCTGAGACTTCTCACCTAATGCACATTAAGTAGGCTGCTGACCTAACATTTTAATGTTGCTCTTCCAGCAACCTTCGACGCTTATTGTACTGTACCTTTTCCTGAAGTGAGCTGACTTA
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Task1_train_13399
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An alteration has been detected in SETX (senataxin) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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TCTGGTACCAGTTCTGAACTGCCCACCTCTGGGTTTTTGATTTTTAAAAAAAAGAAGTAAACTTCTGTTATATTTAAAAGCCACTGTATTTGGAGTCTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATTATTATCTACATTCTACCGAAAAAAGTTATCCCTCTAGTGTATTTAACATTTCTAAGCTTCAGTTTCCCCACCTATAAAATACAGATGGTAGGGTTAACACCAAGTTCATGGGATTATTTTGAGAATTACTGACACACAGTCAACACTCAGTGACTGTAAACAATGACTGTTTTCACTGTTTTCAATAAGCTTGTGCTTACTCAAAGCCTCATCTTTCACCGCCACCTAATGCTCTGGGAACCTCAAGAACCATCTGAGGCTCTCTTGCCCTGATTCTTTTTTTTTATGGCAATCTCTGCTGCTCAAGTACTCCCTAACCCTCTACTGCCTGTGGCTAACTCCTAACTGCCCTTCTCTAACCCTCACACAACTGAATCAGGGTCCCCCTAAGGTGTGTGGAACACCCCACATTTTAGCCTCACTGTGGAACTTATCACTCTGTACTGACCTCTCCACTTCCTCACTAGGCCGTGTGTCTCCTTGAAGACTTCACTGATGAAACCTCAGTACCTGGCACAGGCCCTGGCACAGGGTAAATGTTCAATGAAATACTTGCTAAATGAACTCACAAGCCACAGATTCAAGTAGAAGCTATTACCAGGACTGGCCTGCTCTTTCCTTTGTCATTCAAAGTTGCCTACACTTAACACTGAAAACAAAAACAAATTTAAAATCCACAAAAGTATCATACCTAAAGGATTCTTCTTGTCTTTACATTTTTCTTTGAATTCAAGGATAATTTTTTTCATGAGTTCATCAACAGCTGCATTGGAAGGTGCACACACGAGGACACGGTTTTGTTTGATTTTGGCATTGGAGTTTTCGTCTGAATGCCCCTTCCTCTGGTTCTACAATTTGCCACATATACATACCAAACAAACACACAAAAAATATGGGTGAGCTCTATTACATAGCTTTAAAGTTTGTCTTTACTTCCATGTATTTTTGAAAGTTCTCGTAATAAAGTTAAAAATAAATAAAAGCATCTACATCTAACACTGATATTTAAAATTACTCCAGCAAAAAAATTTGTCATAACTGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGGGTGGTGGTGTACGCCTGTAATCCCAGCCACTAGGGAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGACCTGGGAGGCAGAGGTTGCTGTGAGTCAAGATCGTGCCACTGTACCCTAACCTGGATGACAGCGAGACACTGTCTCAAAAAAAAAAAACAAAAAACCACAATCCAACCAAAATGCAGCCCAGCATTCACAGCATTCTACGTGACCTACCGTGAAGCCTGAAGACCATCATTCTAGTCCTTACGATTTGTTTCACATAAGATAGTGGTTTTTTCCTCTTTTTATTTCCCATAACCTTCCCTCCCTCTGCCACCCTTTTCTCTGACACAGTTACACACAATATAAAAAATATATACAAATCAAAGAGGAAATGGCATGTTAATACTTATTTACATGTCAGTTAACTCAAGTAAAGTAAAATGATACAGCTAGTTAACAGCATCAGTGCCCTCACCCATACCTACCTCTGTCAGTAGACGATAGAGGAGGCCAACAATAGTTTTTGATTTTCCTGTTCCAGGTGGTCCATGAATCAAGCAGATTTTGGCAACTGATGGTGAGTGTTTCACCATAGCATATGCAGTTTCTATTGCTTTCTTTTGATCTTCATTGAAATCTCTTAAGTACGCAATCTATATAAAAAACACATTTTTGAGAATGAGTTGCTGTTTCTGTAGTGGAATTTGAAAGGAAGAACATGAAAAAGACCTGTCCAAATTTCTTTCAATGCATGAGACAAAAGCTTTGGTTATGGTCAGACAAGACAAGGACACCAAAGTGACCTTTAATCTAAAAAGCACGTTCACTACTGGAAAGAAAGCTAATTACTTACTAATTACTAATTAGTGTCTGTAACGCTTCAAGTACTTACAAATACAACTGTACTTTTATTTTTTATTCTTACAAAGATAATCACAATAAATTGCATTTACTAATCCACAACTTTTCTTCTATTTACTACTCTGTTTTTTTCCTTCTTTAGTCAATTTTCTCCTTAGTGAAAACATCCCAAGACTATTTATTTCCTAGCACATGTGATACAGTGGAAAAAGCATGTATGCCAGGGGAAGATCTGGGTGTAAGCTTCACTTGCACTTACAAGCTAGGCCACTACGCTCCTAACCCAAGCCTTGGCCTCTGTTACTCATTAAATCTAGGATTCCTTAAGAGGTGAGAACAGACTGAGATAATGCACATGAAAGCCATAGCATACAGCTCTAGAGTTTCTAAATAGTTAGTTTCCTTTTGCATTTCTCTGTTAACTTCCTAGAGTTTATACACAGCTTCACATGTTCAGTTGACAACTTCATCTTTGCATTTCCAACAATACCGGCCAATTCTCCATCAATCATTCAAATGTAAATTTAACACCACTAAACCTGAGACTTCTCACCTAATGCACATTAAGTAGGCTGCTGACCTAACATTTTAATGTTGCTCTTCCAGCAACCTTCGACGCTTATTGTACTGTACCTTTTCCTGAAGTGAGCTGACTTAACCTAAATTACATACTTTGCAATACTAAAGAAAACTAACACTAAACTGTTCACCGTGAACACATTTTTGTTGTAAACATATAGGAATACATAGCAGCTAAAAAATATGATGCTTTAACATCTTAACATGAAATTATCTAGTATCATACATCATCACTCACAATTCTCTCAGATGTTGTAGTCAGTAAATCTTTTGTACAGAAGTCCATAGGGTTTGGATTCAGAACAGCTCTAGCCAGTTGGTTCCGACTACCCAACAGAGACATGGCTTTCAACTTCCTTTGTGTAGTTACCAGAGAACTGATTACAATACAATTCACAAGTTCGTTTAAATTGGCCGGAAAGTTCTCTTGAGTCTGGATGGAAAGGTAACACTCAGTTTTCCCATTACGCACTATCATCAAGAAAGAGAAAAAGCAACTTCAGTTATCACTGAATAATGCTGCCTAGTTGTAAAGGTCATGCAGAATTAGGTATTTTTAACATATTTTTGGATATTATTTACATAATTTACCCAGTAAATATTTATGGACTGCTTCCTGAACCCAGTAATGTTCTGTCCTCCGGAGGCTTATTTTCTAGAAGATGGAGGCAGATAACCAAATAAATATGTCAGGTGGTAGTAAGTGCTCTGAAGAAAGCACACAAAGGGAGGAAGTGATGGGGATGGAGGCAGATAAGCTGGTCCGAGAAGGTCTTCCTGATGAAATATTTGAGCAGAGACTTGAAGTAAGGGAGTAAACAGTACTCAGCAGAGGGTAAATAGTACTACATGCAGAAAATAAGCAACTGCAAAGATCGTAAGACAGAGATGTGCCAGGAATATTTTAGAAATAGGGAGAAGGCTAACATGGATAGAAGGAAAAATAGGGAGAAGAACGCTTAGCGACTCAGAGTAAAACGGGGCTACATTTTATAGGGCTGTGCAGATCACAGTAATGACTCTGAACGCTATTCAGGATCAGGGTAGAAAACCATTGGGCACTCTGTGTAGGGAAATAACATGCTCTATCTCACAAACTAAAAGAACCACTCTTA
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TCTGGTACCAGTTCTGAACTGCCCACCTCTGGGTTTTTGATTTTTAAAAAAAAGAAGTAAACTTCTGTTATATTTAAAAGCCACTGTATTTGGAGTCTGCTAAATCAAATCCTGTTAAAAGGCACTGTTAGGTATCCTTAAGGAAAACTAAATTTGGTAGGGAAGACAAGACATATGAGCTTGGAAAGGTCATCAAATACAAAGCCATAACTATACCACTCAACACAAGTGATATGAAAAATAAGTGTTAAGGTTAAATAAAATGAAATAATTTCACATCTTCACTTTAGTGCCCTGAATCATCCGTTGTAATGCTCATTATTATCTACATTCTACCGAAAAAAGTTATCCCTCTAGTGTATTTAACATTTCTAAGCTTCAGTTTCCCCACCTATAAAATACAGATGGTAGGGTTAACACCAAGTTCATGGGATTATTTTGAGAATTACTGACACACAGTCAACACTCAGTGACTGTAAACAATGACTGTTTTCACTGTTTTCAATAAGCTTGTGCTTACTCAAAGCCTCATCTTTCACCGCCACCTAATGCTCTGGGAACCTCAAGAACCATCTGAGGCTCTCTTGCCCTGATTCTTTTTTTTTATGGCAATCTCTGCTGCTCAAGTACTCCCTAACCCTCTACTGCCTGTGGCTAACTCCTAACTGCCCTTCTCTAACCCTCACACAACTGAATCAGGGTCCCCCTAAGGTGTGTGGAACACCCCACATTTTAGCCTCACTGTGGAACTTATCACTCTGTACTGACCTCTCCACTTCCTCACTAGGCCGTGTGTCTCCTTGAAGACTTCACTGATGAAACCTCAGTACCTGGCACAGGCCCTGGCACAGGGTAAATGTTCAATGAAATACTTGCTAAATGAACTCACAAGCCACAGATTCAAGTAGAAGCTATTACCAGGACTGGCCTGCTCTTTCCTTTGTCATTCAAAGTTGCCTACACTTAACACTGAAAACAAAAACAAATTTAAAATCCACAAAAGTATCATACCTAAAGGATTCTTCTTGTCTTTACATTTTTCTTTGAATTCAAGGATAATTTTTTTCATGAGTTCATCAACAGCTGCATTGGAAGGTGCACACACGAGGACACGGTTTTGTTTGATTTTGGCATTGGAGTTTTCGTCTGAATGCCCCTTCCTCTGGTTCTACAATTTGCCACATATACATACCAAACAAACACACAAAAAATATGGGTGAGCTCTATTACATAGCTTTAAAGTTTGTCTTTACTTCCATGTATTTTTGAAAGTTCTCGTAATAAAGTTAAAAATAAATAAAAGCATCTACATCTAACACTGATATTTAAAATTACTCCAGCAAAAAAATTTGTCATAACTGCTCTGAGCCTTACTTTATCATCCACTTACTTTAATGAATACTCAATCCAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACTTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGGGTGGTGGTGTACGCCTGTAATCCCAGCCACTAGGGAGGTACTCGGGAGGCTGAGGCAGGAGAATCACTTGACCTGGGAGGCAGAGGTTGCTGTGAGTCAAGATCGTGCCACTGTACCCTAACCTGGATGACAGCGAGACACTGTCTCAAAAAAAAAAAACAAAAAACCACAATCCAACCAAAATGCAGCCCAGCATTCACAGCATTCTACGTGACCTACCGTGAAGCCTGAAGACCATCATTCTAGTCCTTACGATTTGTTTCACATAAGATAGTGGTTTTTTCCTCTTTTTATTTCCCATAACCTTCCCTCCCTCTGCCACCCTTTTCTCTGACACAGTTACACACAATATAAAAAATATATACAAATCAAAGAGGAAATGGCATGTTAATACTTATTTACATGTCAGTTAACTCAAGTAAAGTAAAATGATACAGCTAGTTAACAGCATCAGTGCCCTCACCCATACCTACCTCTGTCAGTAGACGATAGAGGCGGCCAACAATAGTTTTTGATTTTCCTGTTCCAGGTGGTCCATGAATCAAGCAGATTTTGGCAACTGATGGTGAGTGTTTCACCATAGCATATGCAGTTTCTATTGCTTTCTTTTGATCTTCATTGAAATCTCTTAAGTACGCAATCTATATAAAAAACACATTTTTGAGAATGAGTTGCTGTTTCTGTAGTGGAATTTGAAAGGAAGAACATGAAAAAGACCTGTCCAAATTTCTTTCAATGCATGAGACAAAAGCTTTGGTTATGGTCAGACAAGACAAGGACACCAAAGTGACCTTTAATCTAAAAAGCACGTTCACTACTGGAAAGAAAGCTAATTACTTACTAATTACTAATTAGTGTCTGTAACGCTTCAAGTACTTACAAATACAACTGTACTTTTATTTTTTATTCTTACAAAGATAATCACAATAAATTGCATTTACTAATCCACAACTTTTCTTCTATTTACTACTCTGTTTTTTTCCTTCTTTAGTCAATTTTCTCCTTAGTGAAAACATCCCAAGACTATTTATTTCCTAGCACATGTGATACAGTGGAAAAAGCATGTATGCCAGGGGAAGATCTGGGTGTAAGCTTCACTTGCACTTACAAGCTAGGCCACTACGCTCCTAACCCAAGCCTTGGCCTCTGTTACTCATTAAATCTAGGATTCCTTAAGAGGTGAGAACAGACTGAGATAATGCACATGAAAGCCATAGCATACAGCTCTAGAGTTTCTAAATAGTTAGTTTCCTTTTGCATTTCTCTGTTAACTTCCTAGAGTTTATACACAGCTTCACATGTTCAGTTGACAACTTCATCTTTGCATTTCCAACAATACCGGCCAATTCTCCATCAATCATTCAAATGTAAATTTAACACCACTAAACCTGAGACTTCTCACCTAATGCACATTAAGTAGGCTGCTGACCTAACATTTTAATGTTGCTCTTCCAGCAACCTTCGACGCTTATTGTACTGTACCTTTTCCTGAAGTGAGCTGACTTAACCTAAATTACATACTTTGCAATACTAAAGAAAACTAACACTAAACTGTTCACCGTGAACACATTTTTGTTGTAAACATATAGGAATACATAGCAGCTAAAAAATATGATGCTTTAACATCTTAACATGAAATTATCTAGTATCATACATCATCACTCACAATTCTCTCAGATGTTGTAGTCAGTAAATCTTTTGTACAGAAGTCCATAGGGTTTGGATTCAGAACAGCTCTAGCCAGTTGGTTCCGACTACCCAACAGAGACATGGCTTTCAACTTCCTTTGTGTAGTTACCAGAGAACTGATTACAATACAATTCACAAGTTCGTTTAAATTGGCCGGAAAGTTCTCTTGAGTCTGGATGGAAAGGTAACACTCAGTTTTCCCATTACGCACTATCATCAAGAAAGAGAAAAAGCAACTTCAGTTATCACTGAATAATGCTGCCTAGTTGTAAAGGTCATGCAGAATTAGGTATTTTTAACATATTTTTGGATATTATTTACATAATTTACCCAGTAAATATTTATGGACTGCTTCCTGAACCCAGTAATGTTCTGTCCTCCGGAGGCTTATTTTCTAGAAGATGGAGGCAGATAACCAAATAAATATGTCAGGTGGTAGTAAGTGCTCTGAAGAAAGCACACAAAGGGAGGAAGTGATGGGGATGGAGGCAGATAAGCTGGTCCGAGAAGGTCTTCCTGATGAAATATTTGAGCAGAGACTTGAAGTAAGGGAGTAAACAGTACTCAGCAGAGGGTAAATAGTACTACATGCAGAAAATAAGCAACTGCAAAGATCGTAAGACAGAGATGTGCCAGGAATATTTTAGAAATAGGGAGAAGGCTAACATGGATAGAAGGAAAAATAGGGAGAAGAACGCTTAGCGACTCAGAGTAAAACGGGGCTACATTTTATAGGGCTGTGCAGATCACAGTAATGACTCTGAACGCTATTCAGGATCAGGGTAGAAAACCATTGGGCACTCTGTGTAGGGAAATAACATGCTCTATCTCACAAACTAAAAGAACCACTCTTA
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Subsets and Splits
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