Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
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_25500
Here is a genetic alteration in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Camptomelic dysplasia
AAAACTAGTTTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCC
AAAACTAGTTTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCACCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCC
Task1_train_25501
Consider this mutation in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Inborn genetic diseases
TTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACT
TTTTATTATGATGTGGGCCGATTCACCACAACAATAATTTAATTGAGGCGAATTTTTGCAAGAGCCCAAAAGGGTGGGGGGGGGGGGGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGAGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACT
Task1_train_25502
This sequence variant lies in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Camptomelic dysplasia
GGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTG
GGGAGTTTAAAATTAAGAGTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACTTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTG
Task1_train_25503
The following genetic variant occurs in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; SOX9-related disorder
GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCG
GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACACCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCG
Task1_train_25504
Here is a mutation in LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Inborn genetic diseases
GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCG
GTTTCCCAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACACCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCG
Task1_train_25505
Chromosome 17 houses a mutation in gene LOC108021846, SOX9 (SOX9 promoter region| SRY-box transcription factor 9). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Camptomelic dysplasia
CAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTG
CAATGCTGTGCGTTTATTTGGGATTCTGAAAGCACAGAACCCGCAAGCGACCAAGACTTTTCTTCTATCCCAGAGCAGATAGCTCCGCACTTACCCAACCTGGCTCTAAGCATTTCGTGTAAACACAAAGGTTGTGCTCAAATCACACTTGAAATACATGAGAGACACCACCAATGCCTCCCCCAGAACTCCCAACTACATGCAGGTCTGAACCGACCGGACTAGAGTCAGAAGCACCGGCGCTTCACCCCTTCAGGTGTTTCGTAAATGCCAGCAAAAGCAGGCAAGCAGCATGACTCCGCCAGAGTGGAGCGTTTTGTCTGCGGTGGTGCCCATTTGTTTGGTCTTTTACAAACCAAGTGACCGGCCTGGGCCTCGCGGCCCGGGACAGCCGCATTGGCAAACTTCTATCTCTCAAAGCCAGAGCAGTTAGCAAACTCTCCCCCAGACAGGGCGACTCGGCTGACGTTTTTGACCCGGCCAGGAGGCAAAGACCAAAACGTCAGAGCAGTAGCCCTGTTACTGAGGAGCGTCGGCAGGGTCGCGGGTAGAGGGGGCTGGAGAATGACTTGTCAGAGCTCAAGGTCGATGTGGCGCGGGGCGGCCTCGAGAGCGCCGGGCTCCTGCGTGGCCACGGCCGCCGCTGCCAACCTTCGCGGGGACTTAGCTTTGCTTTCCATTGACTCCCTTTGCAAAAGCGCAGCAGAATCCTGACCAGCCGCACCAGCCCCGGCGAACCCGAGCATGTTAATCTATTTATATGGATTATTACGGAGGAACAGCGGGCGTTGAGTCACCAAAACATTTGCTTCAAAAGACTATTTCTAAGCACTTTTGCAGGCAGGCAGGCTCGCTCCAGGCGCGTAAACTCGGCTACGCATTAAGAAGCGGCTGCTTTTCGAATACTGCAAACTCCAGCTAAGTCCCCGGTGCCGCGGAGAGAGCAGTGAAAAGAAATGTCGGAGGTGGGGGTAGATCCTAGTCTAGACACACACACTTGCGCGCACACACACACACACACACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCGTGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTG
Task1_train_25506
Given this variant in gene SOX9 (SRY-box transcription factor 9) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Camptomelic dysplasia
ACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAA
ACACAAGATTCGCGCGGAGAAGGCACTAAAATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTGGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAA
Task1_train_25507
Gene SOX9 (SRY-box transcription factor 9) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Camptomelic dysplasia
AATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTA
AATTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCCGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTA
Task1_train_25508
Here is a mutation in SOX9 (SRY-box transcription factor 9) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; ACAMPOMELIC CAMPOMELIC DYSPLASIA
TTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAA
TTCTGGCATTCCGAGAGTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGTACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAA
Task1_train_25509
A variant on Chromosome 17 in gene SOX9 (SRY-box transcription factor 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
GTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTAC
GTACGACAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCTGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTAC
Task1_train_25510
Consider this mutation in SOX9 (SRY-box transcription factor 9) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Camptomelic dysplasia
CAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTA
CAAACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTTCAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTA
Task1_train_25511
This alteration occurs within gene SOX9 (SRY-box transcription factor 9) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Camptomelic dysplasia
AACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTATG
AACTTACACACTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACGAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTATG
Task1_train_25512
A variant has been detected on Chromosome 17 in SOX9 (SRY-box transcription factor 9). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Camptomelic dysplasia
CTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTATGATTCATTACC
CTTGGAAGTCCCGGGTCCCCCGCCTTCCCCGCAGCACCCCCCGCCCCCCCACCCTACCGTCCGCCCTTTGGCTGCGATCCCCTCCCCTCTCCTCCCCTCCCGCCTCGTCACCCAGCCCAGTGCCACAATCCTCCTCCCTCCCCAAAATCGGGTCCAATCAGCTGCCTGCCAACCCTGGGACTGCTGTGCTGTGATTGGCGGGTGGCTCTAAGGTGAGGCGGAGTATTTATTAAAGAGACCCTGGGCTGGGAGTTGGAGAGCCGAAAGCGGAGCTCGAAACTGACTGGAAACTTCAGTGGCGCGGAGACTCGCCAGTTTCAACCCCGGAAACTTTTCTTTGCAGGAGGAGAAGAGAAGGGGTGCAAGCGCCCCCACTTTTGCTCTTTTTCCTCCCCTCCTCCTCCTCTCCAATTCGCCTCCCCCCACTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCCTAAGTGCTCGCCGCGGTAGCCGGCCGACGCGCCAGCTTCCCCGGGAGCCGCTTGCTCCGCATCCGGGCAGCCGAGGGGAGAGGAGCCCGCGCCTCGAGTCCCCGAGCCGCCGCGGCTTCTCGCCTTTCCCGGCCACCAGCCCCCTGCCCCGGGCCCGCGTATGAATCTCCTGGACCCCTTCATGAAGATGACCGACGAGCAGGAGAAGGGCCTGTCCGGCGCCCCCAGCCCCACCATGTCCGAGGACTCCGCGGGCTCGCCCTGCCCGTCGGGCTCCGGCTCGGACACCGAGAACACGCGGCCCCAGGAGAACACGTTCCCCAAGGGCGAGCCCGATCTGAAGAAGGAGAGCGAGGAGGACAAGTTCCCCGTGTGCATCCGCGAGGCGGTCAGCCAGGTGCTCAAAGGCTACGACTGGACGCTGGTGCCCATGCCGGTGCGCGTCAACGGCTCCAGCAAGAACAAGCCGCACGTCAAGCGGCCCATGAACGCCTTCATGGTGTGGGCGCAGGCGGCGCGCAGGAAGCTCGCGGACCAGTACCCGCACTTGCACAACGCCGAGCTCAGCAAGACGCTGGGCAAGCTCTGGAGGTAGGACCCGGCGGGGGCGGCGCGGCAGGGTGGGCATCGCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCTGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTATGATTCATTACC
Task1_train_25513
A variant was discovered in gene DNAI2 (dynein axonemal intermediate chain 2), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Primary ciliary dyskinesia
ACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCTCAGCGGTAGCAGCTTTTCTGGGCATGTCCTTCCTCTGACTCCCATCCGTGAGTCCCAGGGCTGGGACCAGGTCCAGCAACACGTGCCTGCTGCCTGGAGTTAGCAGCAGAGAAATGCCAGTGGCCAGCCCACGGGAAGGACTGTGCCCAGAGCCCTTTCTTTATTTTATTTGAGACAGGGTCTCACTACGTTGCCCAGGCTGGAGTACAGTGGCACAAACATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCCCGAGGAGCTGGGACCACAGGTGCTCACCACCACACCCGGCTAATTTTTTTATTTTTTGTAGAAACAGGGTCTTTCCATGTTGTCCAGGCTGGTCTCAAAATCCTGGCTTCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACATGACCAGCCCAGAGCCCTTTAAAGAACAGCCTGTCAGACACCTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGCAAAAATAAAATATTAGCTGGGTGTGGTGACGGGCGCCAGTAATCCCAGTTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGACATCGTACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGTGTCTCAAAAAAAAAAAAAAAAAAAGCAACCTGTGAGCTGTGGATGAGTGAGGTCAGCACAGCTAGAAGTCAGACACAAGGAAGAACTTCCTACCTAGCAAGACTCTGAGATCCTGGAGCCCAGAAGGGACCAAGTGAGCCAAGCTGTGGCTCAGAAGCCTCTGTCCCTCCAACCATGATGTGGTCTACCTCCCACAGGTACCACATGGCTTACCTCACTGATGCTGCCTGGAGCCCCGTGAGGCCGACCGTTTTCTTTACCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACGCGCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAGGTCCCGGCGTGGGTGTGAGTGTGGGGTGCTGTGAGCACGTGTGCAGTGTGTGGCCAGGTGTGTTTGGGCCTCTGTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTTTGAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATTTGGCATCCTGGTAGCACAACAGAACCACCTGGGGGAAATTTAAAAAGAAACAAAAGCAGGTACCCGGCATCTCCTACCCACAGGCCGATTCCTTCAGAGCCCCTGGGGTTTGGCTGCTGGACCTTCCCCTTCATGTCAGGGTGGCCAGAGCTGAGCCCCACTGGCTGGGGCCACGGAAGGGTGGGGGCATTGGGGAACCACAGGGTGACTGTGAGGCGGAACTGAAGGGGTGGGGCGGGAGATGAGGCAGGGAAGCCAGGAGCCTTGACAACCAGTCTCCGAGTTTGAACTTCATCCTGTGGGCAGAGGCGTCCTGAGGATGTTTGAATAGGGCCAAGTGGCTGAGCCTCCCCAGGGGCCAGTTAATCAGACACACATAACTTTGCTCCTCTCTCCTCTACCTGGGTCTGCCCGGCCCCTTCAATAGGTGTGTGACGAGGCCCTCTTCTGCCTCCGGGTGCAGGACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCACCCTGCTGGAGGTCTCGCCTGGGCTCTCTACCCTCCAGAGGAATGAGAAGAACGTAGCCTCTTCCGTAAGCACCGGGTGCCTGGGGAAAATCCCTCCAGCACGTCCCGACCTGGCCCCACAGCAGAGCAGGCTAGTCAGACAAATAGATGGCCCCGCCCTCCCACCCCCAGAACATAGGTGCACATTTTGGGGGAAGCAGTGTGGGCTCCATAAATAGGTGTTGGTGTGTCCATTTGCCTTTGCTCAACTGCTGGGTAGCTAAGTGGCCTTCAGTAAGTCACGTCACTCTCCAGGATTCAGTTTTTTACCTGTAAATCAAAGAGGTTCGACTTGGTCAGTTTGTCTAGTTTCAAATAACACTTTTTTTTTTTTGTGGAAACTTTCCAATGAAGGCTTAGTATTGTATTATATTATATTGTATTTTAATTTAATTATTTTTATTTATTTATTTATTTTTGAGACAAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGAGATCTAGGCTCACTGCAATCTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATTACAAGTGCATACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGATCTCACCATACTGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGATGATCTGCCCACCCTGGCCTCCGAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGCCTAATTATTTTATTTATTTTTATTTTATCAGTTTATTTTATTTTACTTCATTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTCTACCTCCCAGGCTGAATCGGTCCTCCCACCTCAGCCTCCTGAGTTGCTGGGACCACAGGCATGCACCACCATGCCTGGCTCATTTTTTAATTTTTGTAGAGACAGGGTCTCCTTATGTTGCCCAGGCTGGTCTGAAACTCCAGGGCTCAAGCAATCCTTCCACCTCAGCCTCCCAAACTGCTGGGATTATAGGCATGAGCCACCACGCCCAGCCTGAAGACTTAGTAGAATGCTAATAGGGAAGCCAGATAGAAGGGGACTTGAAGAGGGGGACTGAGATCCATTCCTACATCCTTTCCCCAGTGGACAGCCCTGCAGGCAACCCCCCAGAACCATGGGGAACACTGTGGAACTGAAAACCCCTAGTGCTAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCTCGTCTCTACTAAAAATAGAAAATTAGCCAGGCATGGCGTCACATGCCTGTAATCCCAGCTCCTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAAGCAGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAACAAAACAAAAAAGGAAAACCCCTAGTGCTGAGGCCTGGAGAGCCTCCTGGCTCTGCCTGAGACTGGGATCTCACCATTGAGCTGGTCCTTGTTGGGCCAAAGCCGCCATATTTCATAGCTCCAAAGGGCGCTCTTCTGCCTGTGGTTCTGGAACTCCATGCTCCTTGGCATTGAGTAACTCAGTGTCCCTGCTGCAGCCTTCCAACCCCAATATTCAGCCCTCCTTCCTTGACACCAGCCCTGGGTACAGACCTCTACAGTACAGGGACTGTATGGAGAGCAAGGAGAGCTCAGCAGAAGCCCCACCTGGCCCCAGCACTGGAGTCGCTTGCCATCCTGCCCTCTCCCCACCGGGCTCTCTCTGTCCCTGGGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGGAGATGCGGCTGAAGGAGAAGGGTAAGGCGGAGGGCAGGGATGAGGAGCAGACCGATGAGGAGCTGGCCGTAGACCTGGAGGC
ACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCTCAGCGGTAGCAGCTTTTCTGGGCATGTCCTTCCTCTGACTCCCATCCGTGAGTCCCAGGGCTGGGACCAGGTCCAGCAACACGTGCCTGCTGCCTGGAGTTAGCAGCAGAGAAATGCCAGTGGCCAGCCCACGGGAAGGACTGTGCCCAGAGCCCTTTCTTTATTTTATTTGAGACAGGGTCTCACTACGTTGCCCAGGCTGGAGTACAGTGGCACAAACATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCCCGAGGAGCTGGGACCACAGGTGCTCACCACCACACCCGGCTAATTTTTTTATTTTTTGTAGAAACAGGGTCTTTCCATGTTGTCCAGGCTGGTCTCAAAATCCTGGCTTCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACATGACCAGCCCAGAGCCCTTTAAAGAACAGCCTGTCAGACACCTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGCAAAAATAAAATATTAGCTGGGTGTGGTGACGGGCGCCAGTAATCCCAGTTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGACATCGTACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGTGTCTCAAAAAAAAAAAAAAAAAAAGCAACCTGTGAGCTGTGGATGAGTGAGGTCAGCACAGCTAGAAGTCAGACACAAGGAAGAACTTCCTACCTAGCAAGACTCTGAGATCCTGGAGCCCAGAAGGGACCAAGTGAGCCAAGCTGTGGCTCAGAAGCCTCTGTCCCTCCAACCATGATGTGGTCTACCTCCCACAGGTACCACATGGCTTACCTCACTGATGCTGCCTGGAGCCCCGTGAGGCCGACCGTTTTCTTTACCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACGCGCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAGGTCCCGGCGTGGGTGTGAGTGTGGGGTGCTGTGAGCACGTGTGCAGTGTGTGGCCAGGTGTGTTTGGGCCTCTGTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTTTGAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATTTGGCATCCTGGTAGCACAACAGAACCACCTGGGGGAAATTTAAAAAGAAACAAAAGCAGGTACCCGGCATCTCCTACCCACAGGCCGATTCCTTCAGAGCCCCTGGGGTTTGGCTGCTGGACCTTCCCCTTCATGTCAGGGTGGCCAGAGCTGAGCCCCACTGGCTGGGGCCACGGAAGGGTGGGGGCATTGGGGAACCACAGGGTGACTGTGAGGCGGAACTGAAGGGGTGGGGCGGGAGATGAGGCAGGGAAGCCAGGAGCCTTGACAACCAGTCTCCGAGTTTGAACTTCATCCTGTGGGCAGAGGCGTCCTGAGGATGTTTGAATAGGGCCAAGTGGCTGAGCCTCCCCAGGGGCCAGTTAATCAGACACACATAACTTTGCTCCTCTCTCCTCTACCTGGGTCTGCCCGGCCCCTTCAATAGGTGTGTGACGAGGCCCTCTTCTGCCTCCGGGTGCAGGACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGAGGACAACCACCCTGCTGGAGGTCTCGCCTGGGCTCTCTACCCTCCAGAGGAATGAGAAGAACGTAGCCTCTTCCGTAAGCACCGGGTGCCTGGGGAAAATCCCTCCAGCACGTCCCGACCTGGCCCCACAGCAGAGCAGGCTAGTCAGACAAATAGATGGCCCCGCCCTCCCACCCCCAGAACATAGGTGCACATTTTGGGGGAAGCAGTGTGGGCTCCATAAATAGGTGTTGGTGTGTCCATTTGCCTTTGCTCAACTGCTGGGTAGCTAAGTGGCCTTCAGTAAGTCACGTCACTCTCCAGGATTCAGTTTTTTACCTGTAAATCAAAGAGGTTCGACTTGGTCAGTTTGTCTAGTTTCAAATAACACTTTTTTTTTTTTGTGGAAACTTTCCAATGAAGGCTTAGTATTGTATTATATTATATTGTATTTTAATTTAATTATTTTTATTTATTTATTTATTTTTGAGACAAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGAGATCTAGGCTCACTGCAATCTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATTACAAGTGCATACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGATCTCACCATACTGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGATGATCTGCCCACCCTGGCCTCCGAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGCCTAATTATTTTATTTATTTTTATTTTATCAGTTTATTTTATTTTACTTCATTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTCTACCTCCCAGGCTGAATCGGTCCTCCCACCTCAGCCTCCTGAGTTGCTGGGACCACAGGCATGCACCACCATGCCTGGCTCATTTTTTAATTTTTGTAGAGACAGGGTCTCCTTATGTTGCCCAGGCTGGTCTGAAACTCCAGGGCTCAAGCAATCCTTCCACCTCAGCCTCCCAAACTGCTGGGATTATAGGCATGAGCCACCACGCCCAGCCTGAAGACTTAGTAGAATGCTAATAGGGAAGCCAGATAGAAGGGGACTTGAAGAGGGGGACTGAGATCCATTCCTACATCCTTTCCCCAGTGGACAGCCCTGCAGGCAACCCCCCAGAACCATGGGGAACACTGTGGAACTGAAAACCCCTAGTGCTAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCTCGTCTCTACTAAAAATAGAAAATTAGCCAGGCATGGCGTCACATGCCTGTAATCCCAGCTCCTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAAGCAGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAACAAAACAAAAAAGGAAAACCCCTAGTGCTGAGGCCTGGAGAGCCTCCTGGCTCTGCCTGAGACTGGGATCTCACCATTGAGCTGGTCCTTGTTGGGCCAAAGCCGCCATATTTCATAGCTCCAAAGGGCGCTCTTCTGCCTGTGGTTCTGGAACTCCATGCTCCTTGGCATTGAGTAACTCAGTGTCCCTGCTGCAGCCTTCCAACCCCAATATTCAGCCCTCCTTCCTTGACACCAGCCCTGGGTACAGACCTCTACAGTACAGGGACTGTATGGAGAGCAAGGAGAGCTCAGCAGAAGCCCCACCTGGCCCCAGCACTGGAGTCGCTTGCCATCCTGCCCTCTCCCCACCGGGCTCTCTCTGTCCCTGGGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGGAGATGCGGCTGAAGGAGAAGGGTAAGGCGGAGGGCAGGGATGAGGAGCAGACCGATGAGGAGCTGGCCGTAGACCTGGAGGC
Task1_train_25514
Located on Chromosome 17, this mutation impacts KIF19 (kinesin family member 19). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Non-immune hydrops fetalis
GCCAAGGAGGCGAGTTTTGTGTGGCCAGCCTGGAGCCGCTGAGAGGAAGCTCACCGCCTGAGGGGCAGGAGGGGCGGGGACAGAAGCCAGGGAGCTGCTCCCCACTCGGCTGAGGCTGGGACAGACAGGAGAATCCTGAGTGGCAGCAAGGAGGGGACTCACACCTGCCCCAATGCCCCCACCACGCTGACCCTGGGAGAGTAACCAGGCAACACTGCCTCTCCATTTACACAGAGACCCTGACCTCCAGAGAGCCGAGGCCCACGCCAGGCCTCTCAGCACACGGAGCCCAGCCCACTCCAGCCTGCCCTTTCCCAACTGCTCAGACATAGGACCCTCCCTGCTAGCCCCCTCAGGGGCTCCTCTCTGCCGGAGCACCTACGGCAGTCGCTAAGAGCTGCCTCTCCTCCCTCCCACCCAGATCATGCAGCTGCTGATGAAGGGGAACCGGCAGAGGACCCAGGAGCCCACGGCCGCCAACCAGACGTCCTCCCGCTCCCACGCGGTACTGCAGGTGACCGTGCGCCAGCGCAGCCGGGTCAAGAACATCTTGCAGGAGGTGCGGCAGGGCCGCCTGTTCATGATCGACCTGGCTGGCTCAGAGCGCGCCTCGCAGGTGAGGCTGGGACCTGGGCTGGGCAGAGGAGGGAGGGTTGACCCAGGCAACAGCGGAGGGCAGGAATGGTGACTCCCATGCAAGGCCAGCACCACAGGAACAGGGGAGACAGGTTGGGAGGTGGGGACAGGGACGCTGGCATCTCAGCTTCGTAGGAGTTGGAGCGGGGAGGATGTCGCAGCGAGGTGGAGGGGATGAGTGGAGACCCCCGGGTTAAGGAAGTGAGGAACGTTCCAGAGGAGCAGGGTTGGGGGGAATGGGGTAGGGCATCCCGGGAAGAGCCAAGGAGCTCTGGTGGGAAGGGGAAGGAGGATGGGGGTTTCTCCAGGGAAGGAGACTGTGGCTGCCCTAGGGGAGGGATCCAGGAAGACAATGAATGGGCCCAAAGGAGTAGTTGGAGGCAGGGAGAGACAAGCATCCCCTGACTGGGAGGACTTGACACATCCTGGGAGAGGACCCAGCCAGTCACATCACAAAGAGGAGAAGGTCCCCGTCACCCATTTCTGGCAGCATCTTTGTCCCCTCTCATGAAGCTTGGCTTTGTGGCAGCACCTTTGTCCCCTCCCATGAAGTCCTGCTTGCCGAGCTCTGCAGCCTTGGTGGCAGCACCACCCAGCTGGTGTAGGTCTGGGCTCCCTCGTGCAGGCAATCTTGGGGGTTTTATGGTCACCTGAGCAATGAGGCTGGGTGATGTCACCATTGCTGGCACTGGAACAAATGCAAGGGAAATGACAGTGCCAGAAAGAATGAGCAGTCTTTTGTCTTTGAACATCTGGGGTCGGATCCGAACAGGGCAGGTTCAAGAAACTTACCCCTCCCTTCCAGTAAAGCCTGGGGGGCTTCCTGGAAGGCACACAGGGGAGAGGCCTGGGAGGAGAGAGAGTGCCCTTCAGCCACTGGAGCGAGCTGGTCCCGGCTTCTCCAGGCTGGGCAGAGCCACCTCCTAAGGGGAGCTGCAGGCAGGGCCTCCTCGGCTTTGACATGCTCCTGCAGGCCCAAGAAAAGGAGAAGAACCTGCCCTCCACCACCATGCACATGTGCACGCACTTTCCTCCTTGCTCCCTGGAGCACCCTCTGGAGCACCAGTGGTCCTGCCGGCTCCCAGCTGAGCTGCCTGGAAAGCAACCTCCCTCCCATCTCATCCATGGCACTGTGTGTCAGGCCGTGCCACGGCACCTGCCCTGAGGAGAACCGGCCATCTCAGCCCTCCTCAGAAGCTGTCAGCCCATCACTCTTGTTCAGAGGCCTCTGGGTCTCTTAACCTTCTCCAATGCCCTCAGTGGCCTTGGCAGGAGGACGGCCACAAGGTCCTTGGGGGTTTATTACCCAGGATCACCAGGTCATTCATTGGTGGGGTGGCTGGGGAGAAACCCAGTCCCCTGCCTCATCAGGCCACACGTGTGCCCTTTGCTCGCCCCCTAGACACAGAATCGTGGGCAGCGTATGAAGGAGGGGGCCCACATCAACCGCTCACTGCTGGCACTGGGCAACTGCATCAACGCCCTGAGCGACAAGGGTAGCAACAAGTACATCAACTATCGCGACAGCAAGCTCACCCGGCTCCTGAAGGTACCAGCCACAGCTGGGCCTGGGCACTGGGCACCAAGGGTGAGGCTGCCAGATTAAACAAATGAAAATACAGGGCACCCAGCTAAATTCCAACCTCAGGATACACAGCAAAATTTATTTTAGCGTAAATATGTCCCATGAAATATTTGGGATATTCTTATGCTAAAACAAAGTAATTGCATATCTGAAATTCAAATTTAACTGGGTATCCTGTATTTTATCTGACGACCCTAACCAAAGGCTGGGCAATGGGAAGGAAAAGGAGCACGTGATACCCCCACCCAGGGCTGTGGGTCAGAGCCGTCTAGATTTGGGGGTGCAGGTGGGCAGTCAGCCTCATGGCCCCACAGGTCAGCTGTTTGGGGGTGGCCTCCTTTGTGCAGGGGTGTCCTTGGCCTTAAATTATAGCAGCATCACTGAGCGCCCACTCCTGGCTGGTCTCTTGAATTCAGTACTTCACTCTATTAGCTCCTTAGATCTCGTCAACAACTCTATGAGTTTGAGGGATTACATTTGCAGATGAGGAAACTGAGGCACAACTCAGTTAGGTAATGTTCCTAAGGGCTCACACTAGTAAGTGCTGAAAGTAGGATCCAGTCAGAGGCCTCCCTGATCTAATATCAGAGTCACCGCTTACTTAACATTGCCAGCAGCTGCCGTCATGACTGCACCTAGAAGCCGGGGAGGTGGGGACAATTGCAAAAGGACTGCCCCCTTAAAAAGCAAGGAAAGCCGGGTGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTAAGGTCAGGAGTTCAAGACAAGCCTGGCCACCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTGCCCAGGCATGGTGGCAGACGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCACGAGAATTGCTTGGACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACAGCGCCACTGCACTCCAGCCTGGATGACAGATCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAACTAAAGAGGTGAATGAGCTTTATTAAGGTTACACAGCTGGTAATTGCTGGAGCAGGGCTTTCTTCCTCCCAAGCCTCACACCATATGACGCTCAGCAGCCGGGTCCCTTAAGTGTAAAGAGACAGAGAGATTGCACTCGCCAGGGAGGGCATCGTGAACAGCCTGGCAGGAGGAAGGCCTGAGGAGGCAGTCCCCACTGACCACAGCCACCTCCCATCCAGGACTCTCTGGGAGGAAACAGCCGCACAGTGATGATCGCTCACATCAGTCCTGCGAGCAGTGCCTTCGAGGAGTCCCGGAACACCCTGACCTACGCCGGCCGGGCCAAGAACATTAAGACTAGGGTGAGGGCCCCTGGACCGTCCACCAGGACACACCTTCCTGGGCTGAGATTCAAGCCCCCGGGCTGATCCCTGCCACCCCACTGCACTCTCTGGAACCAGCCACTGCTGCACTGGCCTCATTCCCTAGTTGATCGTCACCTGTACACTTTCCCTGCACCTCCAAACCCTGCTCCTCTGCCGGGAAGCCGACAGCTCCCAAGGGTCCCCGCTTCCTCCAGTCCCAGGACTGTGCTCCCCCTGCCTCATCCCCTCTTCTCTTCCCTTCCTCGTCTTCAGATGCTCATTTAGACCTTTGCATTTCCAAAGCACCTCTTCATGATGGTCATCACAGGAGGCAAGCTTCATTGAGCACTTGCTCTGAGCTGTTTCACATGCTACCTCCTTTGATCCTCAAAAAACAGCAGTATTATTGCGGTTCCCATGTACAGATTAGGACAGCAAGGCTTAAGGAAGTTAAGTGACTTCCCAGCTGGCCAGTGATGGCGCTGAGGATGGAAATGAGATCTGCCCCGTTTCCAAGTCCGTGTCCTCACCTG
GCCAAGGAGGCGAGTTTTGTGTGGCCAGCCTGGAGCCGCTGAGAGGAAGCTCACCGCCTGAGGGGCAGGAGGGGCGGGGACAGAAGCCAGGGAGCTGCTCCCCACTCGGCTGAGGCTGGGACAGACAGGAGAATCCTGAGTGGCAGCAAGGAGGGGACTCACACCTGCCCCAATGCCCCCACCACGCTGACCCTGGGAGAGTAACCAGGCAACACTGCCTCTCCATTTACACAGAGACCCTGACCTCCAGAGAGCCGAGGCCCACGCCAGGCCTCTCAGCACACGGAGCCCAGCCCACTCCAGCCTGCCCTTTCCCAACTGCTCAGACATAGGACCCTCCCTGCTAGCCCCCTCAGGGGCTCCTCTCTGCCGGAGCACCTACGGCAGTCGCTAAGAGCTGCCTCTCCTCCCTCCCACCCAGATCATGCAGCTGCTGATGAAGGGGAACCGGCAGAGGACCCAGGAGCCCACGGCCGCCAACCAGACGTCCTCCCGCTCCCACGCGGTACTGCAGGTGACCGTGCGCCAGCGCAGCCGGGTCAAGAACATCTTGCAGGAGGTGCGGCAGGGCCGCCTGTTCATGATCGACCTGGCTGGCTCAGAGCGCGCCTCGCAGGTGAGGCTGGGACCTGGGCTGGGCAGAGGAGGGAGGGTTGACCCAGGCAACAGCGGAGGGCAGGAATGGTGACTCCCATGCAAGGCCAGCACCACAGGAACAGGGGAGACAGGTTGGGAGGTGGGGACAGGGACGCTGGCATCTCAGCTTCGTAGGAGTTGGAGCGGGGAGGATGTCGCAGCGAGGTGGAGGGGATGAGTGGAGACCCCCGGGTTAAGGAAGTGAGGAACGTTCCAGAGGAGCAGGGTTGGGGGGAATGGGGTAGGGCATCCCGGGAAGAGCCAAGGAGCTCTGGTGGGAAGGGGAAGGAGGATGGGGGTTTCTCCAGGGAAGGAGACTGTGGCTGCCCTAGGGGAGGGATCCAGGAAGACAATGAATGGGCCCAAAGGAGTAGTTGGAGGCAGGGAGAGACAAGCATCCCCTGACTGGGAGGACTTGACACATCCTGGGAGAGGACCCAGCCAGTCACATCACAAAGAGGAGAAGGTCCCCGTCACCCATTTCTGGCAGCATCTTTGTCCCCTCTCATGAAGCTTGGCTTTGTGGCAGCACCTTTGTCCCCTCCCATGAAGTCCTGCTTGCCGAGCTCTGCAGCCTTGGTGGCAGCACCACCCAGCTGGTGTAGGTCTGGGCTCCCTCGTGCAGGCAATCTTGGGGGTTTTATGGTCACCTGAGCAATGAGGCTGGGTGATGTCACCATTGCTGGCACTGGAACAAATGCAAGGGAAATGACAGTGCCAGAAAGAATGAGCAGTCTTTTGTCTTTGAACATCTGGGGTCGGATCCGAACAGGGCAGGTTCAAGAAACTTACCCCTCCCTTCCAGTAAAGCCTGGGGGGCTTCCTGGAAGGCACACAGGGGAGAGGCCTGGGAGGAGAGAGAGTGCCCTTCAGCCACTGGAGCGAGCTGGTCCCGGCTTCTCCAGGCTGGGCAGAGCCACCTCCTAAGGGGAGCTGCAGGCAGGGCCTCCTCGGCTTTGACATGCTCCTGCAGGCCCAAGAAAAGGAGAAGAACCTGCCCTCCACCACCATGCACATGTGCACGCACTTTCCTCCTTGCTCCCTGGAGCACCCTCTGGAGCACCAGTGGTCCTGCCGGCTCCCAGCTGAGCTGCCTGGAAAGCAACCTCCCTCCCATCTCATCCATGGCACTGTGTGTCAGGCCGTGCCACGGCACCTGCCCTGAGGAGAACCGGCCATCTCAGCCCTCCTCAGAAGCTGTCAGCCCATCACTCTTGTTCAGAGGCCTCTGGGTCTCTTAACCTTCTCCAATGCCCTCAGTGGCCTTGGCAGGAGGACGGCCACAAGGTCCTTGGGGGTTTATTACCCAGGATCACCAGGTCATTCATTGGTGGGGTGGCTGGGGAGAAACCCAGTCCCCTGCCTCATCAGGCCACACGTGTGCCCTTTGCTCGCCCCCTAGACACAGAATCATGGGCAGCGTATGAAGGAGGGGGCCCACATCAACCGCTCACTGCTGGCACTGGGCAACTGCATCAACGCCCTGAGCGACAAGGGTAGCAACAAGTACATCAACTATCGCGACAGCAAGCTCACCCGGCTCCTGAAGGTACCAGCCACAGCTGGGCCTGGGCACTGGGCACCAAGGGTGAGGCTGCCAGATTAAACAAATGAAAATACAGGGCACCCAGCTAAATTCCAACCTCAGGATACACAGCAAAATTTATTTTAGCGTAAATATGTCCCATGAAATATTTGGGATATTCTTATGCTAAAACAAAGTAATTGCATATCTGAAATTCAAATTTAACTGGGTATCCTGTATTTTATCTGACGACCCTAACCAAAGGCTGGGCAATGGGAAGGAAAAGGAGCACGTGATACCCCCACCCAGGGCTGTGGGTCAGAGCCGTCTAGATTTGGGGGTGCAGGTGGGCAGTCAGCCTCATGGCCCCACAGGTCAGCTGTTTGGGGGTGGCCTCCTTTGTGCAGGGGTGTCCTTGGCCTTAAATTATAGCAGCATCACTGAGCGCCCACTCCTGGCTGGTCTCTTGAATTCAGTACTTCACTCTATTAGCTCCTTAGATCTCGTCAACAACTCTATGAGTTTGAGGGATTACATTTGCAGATGAGGAAACTGAGGCACAACTCAGTTAGGTAATGTTCCTAAGGGCTCACACTAGTAAGTGCTGAAAGTAGGATCCAGTCAGAGGCCTCCCTGATCTAATATCAGAGTCACCGCTTACTTAACATTGCCAGCAGCTGCCGTCATGACTGCACCTAGAAGCCGGGGAGGTGGGGACAATTGCAAAAGGACTGCCCCCTTAAAAAGCAAGGAAAGCCGGGTGTGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTAAGGTCAGGAGTTCAAGACAAGCCTGGCCACCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTGCCCAGGCATGGTGGCAGACGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCACGAGAATTGCTTGGACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACAGCGCCACTGCACTCCAGCCTGGATGACAGATCGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAACTAAAGAGGTGAATGAGCTTTATTAAGGTTACACAGCTGGTAATTGCTGGAGCAGGGCTTTCTTCCTCCCAAGCCTCACACCATATGACGCTCAGCAGCCGGGTCCCTTAAGTGTAAAGAGACAGAGAGATTGCACTCGCCAGGGAGGGCATCGTGAACAGCCTGGCAGGAGGAAGGCCTGAGGAGGCAGTCCCCACTGACCACAGCCACCTCCCATCCAGGACTCTCTGGGAGGAAACAGCCGCACAGTGATGATCGCTCACATCAGTCCTGCGAGCAGTGCCTTCGAGGAGTCCCGGAACACCCTGACCTACGCCGGCCGGGCCAAGAACATTAAGACTAGGGTGAGGGCCCCTGGACCGTCCACCAGGACACACCTTCCTGGGCTGAGATTCAAGCCCCCGGGCTGATCCCTGCCACCCCACTGCACTCTCTGGAACCAGCCACTGCTGCACTGGCCTCATTCCCTAGTTGATCGTCACCTGTACACTTTCCCTGCACCTCCAAACCCTGCTCCTCTGCCGGGAAGCCGACAGCTCCCAAGGGTCCCCGCTTCCTCCAGTCCCAGGACTGTGCTCCCCCTGCCTCATCCCCTCTTCTCTTCCCTTCCTCGTCTTCAGATGCTCATTTAGACCTTTGCATTTCCAAAGCACCTCTTCATGATGGTCATCACAGGAGGCAAGCTTCATTGAGCACTTGCTCTGAGCTGTTTCACATGCTACCTCCTTTGATCCTCAAAAAACAGCAGTATTATTGCGGTTCCCATGTACAGATTAGGACAGCAAGGCTTAAGGAAGTTAAGTGACTTCCCAGCTGGCCAGTGATGGCGCTGAGGATGGAAATGAGATCTGCCCCGTTTCCAAGTCCGTGTCCTCACCTG
Task1_train_25515
Here’s a variant in KIF19 (kinesin family member 19) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; not provided
TCAATGTGGGAGTGGGGTCTGGGAGGATGTAGTAATCTAGGGGGTCTTCCTGGAGGAAGCAGTTGGACAGGAAGTGGGAGCACTGAGTTGGGAAGAAAAGGAGGGGAGGGGCCCAGGTGGGCCCAGGCTTTGCTAGCTGAACTTGCCGCCTCCTCTACCTTGCCCACCCTCACCCATCGGCAGCTGAGGTCCAGCTGCACAGCGGGCAGGGTGAGAAGGCTGGCATGGGACAGCTTCGGGAGCAGCTCGCCAGCGCCTTCCAGGAGCAGATGGATGTGCGGAGGCGCCTGCTGGAGCTGGAGAACCGCGCCATGGAGGTCCAGATTGACACCTCCCGACACCTGCTCACCATCGCCGGGTAAGCCCCCCTCCCAGGACCCTCCAGGCCCCACCCCTGTGCCTGGGACAGAGGAGCACGACCTGTGGCTGTACAGTGTGCCCTGCCCCCATGGCCTGAATGCCCTGTCTCTCTGGGTGGGGCTGCGGCAGCTGGAAGCATGAGAAGTCCCGCCGGGCCCTCAAATGGCGGGAGGAGCAGCGAAAGGAGTGCTACGCTAAGGACGACAGCGAGAAGGACTCAGACACAGGTGATGACCAACCAGACATCCTGGAGCCACCCGAGGTGGCCGCAGCCCGGGAGAGCATTGCAGCCCTGGTGGACGAGCAGAAGCAACTGCGCAAGCAGAAGGTGTCCAGGGTTTGGGGGGACAAGGAGAGTGGGTTTAGGGGACAGGGTGAGCAGGTTTGAGAGGCAAGGCGGAGGGGCCAGGGTGGGGGTAGCCGTGAGACTTGGGAACTCAGGCCACAAATCCTGTGTGACTTTGCTAAGCTCTTTAACTTCTCTATGCGTCACATTCCCCACCTGTAAAATGGGAGCAGTCCATGGTGCAGCCCTCATGGGGTTGCTGGGAAGATTACATAAATGCCTGGCACATACCAAGGACTCAAAAAATGGTAACTAATGTTATAATTAGGGTTTTTCAGGCTGGGCACAGTGACTCACACCTGTAATCTCAGCACGTTGGGAAGTTGAGGTAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAATCCCGTCTTTACTAAAAATACAAAAAAAAAAAAAAAAAAGCCTAGTGTGGTGGCTCACGCCTGTAATCCCAGCTACTCGGATGGCAGAGGAATAAGAATCACTTGCAACCCTGCAGAGGTTGCAGGGAGCCGGGATAGCGCCACCGCACTCCAGCCTGGGTGACAGAGAGAGATCCTGTCTCAAAAAAGAAAAATAATAATAATAATTAGGGTTTTCCCAATAACAGATCTTTGCCTTCTGTTCTGGGACATACCCAGACCAAAGGGGCTTTAGGGTATCATGAGCCCTGAGGGGGTCACATGGGCTGGGGTTGAGCAGTTATCCCCCAAGCTGGTTCCAGGGGTGGTTTGCGGTCAGGATAGCAAGAAAGTGGACACTGAGGGGCCACCTTGGAGCAGTCCCTGATTGTAAGGCCCAAGATTCAGCTTTTAGGGTTGGCCTCAGGCTGGAGCTCCAGACAGATGCCTGGAGTCCAGGCGCTGGAGGGTCGAGGACGAGCTGGGCAGGCGGATCGGACCCCTCTCCCCGCTGCCAGATGCTGACCTGCGCCTCCTGCAGCTGGCGCTGGAGCAGCGCTGCCGGGAGCTGCGCGCGCGGGGCCGGCGCCTGGAGGAGACGCTGCCGCGGCGCATCGGCTCCGAGGAGCAGCGCGAGGTGCTCAGCCTGCTGTGCCGCGTGCACGAGCTCGAGGTGGAGAACACCGAGATGCAGTCGCACGCGCTGCTCCGCGACGGTGCGCTCCGCCACCGCCACGAGGCCGTGCGCCGCCTGGAGCAGCACCGCAGTCTCTGCGACGAGATTATCCAGGGCCAGCGGCAGATCATCGACGGTAGGGCCCACGCCCCCGCGCATCTGAGCCACCCGCGGGGGGGCCGCTGGCACTCACTGAGCCCTGCCCCTTCCCCAGCAGACTACAACCTGGCCGTCCCGCAGCGCCTGGAAGAGCTCTACGAAGTGTACCTGCGGGAGCTGGAGGAGGGCAGCCTGGAGCAGGCCACCATCATGGACCAAGTGGCCTCCAGGGCCCTGCAGGTGGGTGGGCGCCTGGGCGGCCTGAACATGGGCACATGTGCCCAGGGAGGGGCTGATGACCAAGGCAATGCCTTCAGGCAGCTGGAGGGGACAGGACCAGGCTGGCTGGCACCCCAGGGAGTTGACTCCCTTTCCTTCTTACCCCACCCAAAGCCTTGTCAAGCCTGAGTAAGACCCTCCTCCTTGGGCACTCCTGGGCATCACTTGCTCCCACCCAGGGTCTGAGGGTCAGGGCTGGCCATCTGAGATATCACAAATGGCTCCAGCTGCCCTCCCAGGAGACCAAGCATCAGGCAGTGCCACTGGGGAAGCCTAGCAGACCACAGCTTAACCCCGAGGACCCAAACACAAGCCCACTGCCCTTCTGGGGCTCCCAGGCCATCTTACAGCCCTTGTCACCCTGTAAGCCTTTGTGACTCTGTGCTGATTTGGTCCAGGACCAAATCTTCTAACTGTCCACCCTGGCTCCCTCCTCCCCAGGACAGCTCCTTGCCCAAAATTACCCCAGCAGGAACCTCACTGACCCCAGATTCTGACCTGGAGAGTGTGAAGACATTGAGCTCTGATGCCCAGCACCTGCAGAACAGCGCCCTCCCTCCCCTCAGCACAGAGAGGTGAGATGGGGGCCACCTGCCCCAGCCCCCACCCTGTGCCCTGTCCCAGAGAGGCCAACCCAGACTAAGGCTAAATGGGGAACACAGAGCAGCAATGAGAGGGAGCAGGTGGCCCAGGTCTGGAGCCAGGACTCCTGGGTTCTCTCTCCTTTCACACCAACAGCTTCTCCCCTGGGGTGGGGGTGGGACCTCGGTGAGATAGCCTGGTCTACAGCCACTCATCTTCCTCTGCCAACTTCAGTGAAGGCCACCACGTGTTCAAGGCTGGTACTGGGGCCTGGCAGGCAAAAAGCTCCTCTGTGCCCACCCCACCTCCCATCCAGCTCGGCAGCCTGGTGACGCAGGAGGTGAGCTCTCAGTACCCGATGGCCCCACGAGCTCCACTGCAGCGGGTGCGGGACATGGGGGTGGACAGCAGCAGTTGGGATGGACCCTTTCCCAAACGGCACCAGCTTGAGGCCCCGCTGTCTCTGCTGAGTGGGGCATGGGGTCCCTGCTGTGTTTAAGGGTTTCCTCCTCCCAACCACTCCACCCCACAGGCCCCGGCTCAGGACAGCCTGGGCAGCTGGATCAACTCTTCCCCTGACAGCAGTGAGAACCTGTCGGAGATCCCCTTGTCCCACAAAGGTATGTGTGCCCTCTGCTGCCCGGCCACCTCACCTGGCCTTGTCTAAACTGTTCAGATCACCCAGCTCAAAGCCCTTTCCTGCCCTCTGCACTGCCAAGTGCAACCAAGCATTGGGTGCTACACATTCTGTAGAGGCACCATTGCCCCTGAGGATTAGTCAGTCAAGGACACTTAAGAGTCTTCTCTAAGTCAAGGACATTTAGAGAGATGGGGGCAGAATCGGAAATTAGAAAAGAGACATGTGGCATGGAGACTTATGTCCCCCCTCCCCCGCCGCCTCCGCTCAGTAATCACTGTAATAGCAAATATCGATTCAATGTCTGCCCCCTGGATAATGTAGGTTGAGCCCATTTCCTCAATTAATCCTGGAAATAACCGATGGCATTAGTTTTACCATCCCCCATTTGCAGATGAAAGTGAGGCTCGGAAATGGGCCCAAGTTTCTTACATAGCAAACCCCTGGAAGTGCTAGGATTGAAACCCAGGAGGTCTGGCTCCTACCCACGTCTGCCATGTCAGAGGAGGGTGTTGAGAGGTGGCCTTGATCTCGGGTTGTATGTTCCCCGTGTCCCGCTGCAGAGAGGAAGGAGATCCTGACTGGCACCAAGTGCATCTGGGTGAAGGCCGCCCGGCGGCGCTCGCGGGCCCTGGGAACCGAGGGGCGACACCTGCTGGCACCCGCGACAGAGCGCAGCAGCCTGTCCCTGCACTCACTGAGCGAGGGCGACGAT
TCAATGTGGGAGTGGGGTCTGGGAGGATGTAGTAATCTAGGGGGTCTTCCTGGAGGAAGCAGTTGGACAGGAAGTGGGAGCACTGAGTTGGGAAGAAAAGGAGGGGAGGGGCCCAGGTGGGCCCAGGCTTTGCTAGCTGAACTTGCCGCCTCCTCTACCTTGCCCACCCTCACCCATCGGCAGCTGAGGTCCAGCTGCACAGCGGGCAGGGTGAGAAGGCTGGCATGGGACAGCTTCGGGAGCAGCTCGCCAGCGCCTTCCAGGAGCAGATGGATGTGCGGAGGCGCCTGCTGGAGCTGGAGAACCGCGCCATGGAGGTCCAGATTGACACCTCCCGACACCTGCTCACCATCGCCGGGTAAGCCCCCCTCCCAGGACCCTCCAGGCCCCACCCCTGTGCCTGGGACAGAGGAGCACGACCTGTGGCTGTACAGTGTGCCCTGCCCCCATGGCCTGAATGCCCTGTCTCTCTGGGTGGGGCTGCGGCAGCTGGAAGCATGAGAAGTCCCGCCGGGCCCTCAAATGGCGGGAGGAGCAGCGAAAGGAGTGCTACGCTAAGGACGACAGCGAGAAGGACTCAGACACAGGTGATGACCAACCAGACATCCTGGAGCCACCCGAGGTGGCCGCAGCCCGGGAGAGCATTGCAGCCCTGGTGGACGAGCAGAAGCAACTGCGCAAGCAGAAGGTGTCCAGGGTTTGGGGGGACAAGGAGAGTGGGTTTAGGGGACAGGGTGAGCAGGTTTGAGAGGCAAGGCGGAGGGGCCAGGGTGGGGGTAGCCGTGAGACTTGGGAACTCAGGCCACAAATCCTGTGTGACTTTGCTAAGCTCTTTAACTTCTCTATGCGTCACATTCCCCACCTGTAAAATGGGAGCAGTCCATGGTGCAGCCCTCATGGGGTTGCTGGGAAGATTACATAAATGCCTGGCACATACCAAGGACTCAAAAAATGGTAACTAATGTTATAATTAGGGTTTTTCAGGCTGGGCACAGTGACTCACACCTGTAATCTCAGCACGTTGGGAAGTTGAGGTAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAATCCCGTCTTTACTAAAAATACAAAAAAAAAAAAAAAAAAGCCTAGTGTGGTGGCTCACGCCTGTAATCCCAGCTACTCGGATGGCAGAGGAATAAGAATCACTTGCAACCCTGCAGAGGTTGCAGGGAGCCGGGATAGCGCCACCGCACTCCAGCCTGGGTGACAGAGAGAGATCCTGTCTCAAAAAAGAAAAATAATAATAATAATTAGGGTTTTCCCAATAACAGATCTTTGCCTTCTGTTCTGGGACATACCCAGACCAAAGGGGCTTTAGGGTATCATGAGCCCTGAGGGGGTCACATGGGCTGGGGTTGAGCAGTTATCCCCCAAGCTGGTTCCAGGGGTGGTTTGCGGTCAGGATAGCAAGAAAGTGGACACTGAGGGGCCACCTTGGAGCAGTCCCTGATTGTAAGGCCCAAGATTCAGCTTTTAGGGTTGGCCTCAGGCTGGAGCTCCAGACAGATGCCTGGAGTCCAGGCGCTGGAGGGTCGAGGACGAGCTGGGCAGGCGGATCGGACCCCTCTCCCCGCTGCCAGATGCTGACCTGCGCCTCCTGCAGCTGGCGCTGGAGCAGCGCTGCCGGGAGCTGCGCGCGCGGGGCCGGCGCCTGGAGGAGACGCTGCCGCGGCGCATCGGCTCCGAGGAGCAGCGCGAGGTGCTCAGCCTGCTGTGCCGCGTGCACGAGCTCGAGGTGGAGAACACCGAGATGCAGTCGCACGCGCTGCTCCGCGACGGTGCGCTCCGCCACCGCCACGAGGCCGTGCGCCGCCTGGAGCAGCACCGCAGTCTCTGCGACGAGATTATCCAGGGCCAGCGGCAGATCATCGACGGTAGGGCCCACGCCCCCGCGCATCTGAGCCACCCGCGGGGGGGCCGCTGGCACTCACTGAGCCCTGCCCCTTCCCCAGCAGACTACAACCTGGCCGTCCCGCAGCGCCTGGAAGAGCTCTACGAAGTGGACCTGCGGGAGCTGGAGGAGGGCAGCCTGGAGCAGGCCACCATCATGGACCAAGTGGCCTCCAGGGCCCTGCAGGTGGGTGGGCGCCTGGGCGGCCTGAACATGGGCACATGTGCCCAGGGAGGGGCTGATGACCAAGGCAATGCCTTCAGGCAGCTGGAGGGGACAGGACCAGGCTGGCTGGCACCCCAGGGAGTTGACTCCCTTTCCTTCTTACCCCACCCAAAGCCTTGTCAAGCCTGAGTAAGACCCTCCTCCTTGGGCACTCCTGGGCATCACTTGCTCCCACCCAGGGTCTGAGGGTCAGGGCTGGCCATCTGAGATATCACAAATGGCTCCAGCTGCCCTCCCAGGAGACCAAGCATCAGGCAGTGCCACTGGGGAAGCCTAGCAGACCACAGCTTAACCCCGAGGACCCAAACACAAGCCCACTGCCCTTCTGGGGCTCCCAGGCCATCTTACAGCCCTTGTCACCCTGTAAGCCTTTGTGACTCTGTGCTGATTTGGTCCAGGACCAAATCTTCTAACTGTCCACCCTGGCTCCCTCCTCCCCAGGACAGCTCCTTGCCCAAAATTACCCCAGCAGGAACCTCACTGACCCCAGATTCTGACCTGGAGAGTGTGAAGACATTGAGCTCTGATGCCCAGCACCTGCAGAACAGCGCCCTCCCTCCCCTCAGCACAGAGAGGTGAGATGGGGGCCACCTGCCCCAGCCCCCACCCTGTGCCCTGTCCCAGAGAGGCCAACCCAGACTAAGGCTAAATGGGGAACACAGAGCAGCAATGAGAGGGAGCAGGTGGCCCAGGTCTGGAGCCAGGACTCCTGGGTTCTCTCTCCTTTCACACCAACAGCTTCTCCCCTGGGGTGGGGGTGGGACCTCGGTGAGATAGCCTGGTCTACAGCCACTCATCTTCCTCTGCCAACTTCAGTGAAGGCCACCACGTGTTCAAGGCTGGTACTGGGGCCTGGCAGGCAAAAAGCTCCTCTGTGCCCACCCCACCTCCCATCCAGCTCGGCAGCCTGGTGACGCAGGAGGTGAGCTCTCAGTACCCGATGGCCCCACGAGCTCCACTGCAGCGGGTGCGGGACATGGGGGTGGACAGCAGCAGTTGGGATGGACCCTTTCCCAAACGGCACCAGCTTGAGGCCCCGCTGTCTCTGCTGAGTGGGGCATGGGGTCCCTGCTGTGTTTAAGGGTTTCCTCCTCCCAACCACTCCACCCCACAGGCCCCGGCTCAGGACAGCCTGGGCAGCTGGATCAACTCTTCCCCTGACAGCAGTGAGAACCTGTCGGAGATCCCCTTGTCCCACAAAGGTATGTGTGCCCTCTGCTGCCCGGCCACCTCACCTGGCCTTGTCTAAACTGTTCAGATCACCCAGCTCAAAGCCCTTTCCTGCCCTCTGCACTGCCAAGTGCAACCAAGCATTGGGTGCTACACATTCTGTAGAGGCACCATTGCCCCTGAGGATTAGTCAGTCAAGGACACTTAAGAGTCTTCTCTAAGTCAAGGACATTTAGAGAGATGGGGGCAGAATCGGAAATTAGAAAAGAGACATGTGGCATGGAGACTTATGTCCCCCCTCCCCCGCCGCCTCCGCTCAGTAATCACTGTAATAGCAAATATCGATTCAATGTCTGCCCCCTGGATAATGTAGGTTGAGCCCATTTCCTCAATTAATCCTGGAAATAACCGATGGCATTAGTTTTACCATCCCCCATTTGCAGATGAAAGTGAGGCTCGGAAATGGGCCCAAGTTTCTTACATAGCAAACCCCTGGAAGTGCTAGGATTGAAACCCAGGAGGTCTGGCTCCTACCCACGTCTGCCATGTCAGAGGAGGGTGTTGAGAGGTGGCCTTGATCTCGGGTTGTATGTTCCCCGTGTCCCGCTGCAGAGAGGAAGGAGATCCTGACTGGCACCAAGTGCATCTGGGTGAAGGCCGCCCGGCGGCGCTCGCGGGCCCTGGGAACCGAGGGGCGACACCTGCTGGCACCCGCGACAGAGCGCAGCAGCCTGTCCCTGCACTCACTGAGCGAGGGCGACGAT
Task1_train_25516
This sequence variant lies in FDXR (ferredoxin reductase) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
AGCTGGAAGGGGAAGAAGCGGGACTCGCGGCGGGGGAAGGGGTCTGGGCGCCGAGGCGAGTGCGCAGCAGGTGCCCAGCAGACCTAGGGAAACTGGGGCACTGGGCTGGGGAGCCGCACAGCCCCCTTTCACCTTCTCGACTCCTTTCCAACCCCTCGCTCTGGTGGATCCCAGCCCCGGCCCCCACTCCCGGCCCTGTTCCCCGCTCTCCGCCCCGGCGGCTTCCAGCAGCAACAGTTTGGGTCCGCGGCAGCCCAGACTCCCCTGGTCCCGCGGTGCTGCCGCGCCAAGCGAAGGAGGAGGAGGGCTCGGCGACCCTGGGGACGAACGTCTTGGACGCTTCGCCCGCGTCCTTCTCTCGCGTCCGCCGCGCGCCTGTCTGCTCGGCCTCTTCTTCGCCTTCTCTCCGGCCGCCCGGGTCAAAACCCAAGGCCAGGTTCTTGAGGGTCCGGGTCCTCCAGCCGCCCCCTCCTTGAGCCCCGAGAGTCCTGCGTGGGTCCAACCCCCCGGGTGTCCCGCCTCTGTCTCCGCCGTCCTTGCTCGCGCGCCGCGGGAACCCAGCCCCAAGTTGGCGGCGAAGTTGGTGCCCCTCGCCCGCCGCTCGCCACTTACCGAGGGGAAGGGGCGCTGCGCCCGCGACGAGAGCCCGCGCCGGCCGCCTCCCTCGCGGTGTCTGTCCCAGAGCCTCGGCCCCGGAGGGCTGGCGCGCTCAGTCTCAGCTCCGCGGGCGCCGGAGCCCGGGCGCGGCGGGGCGGGGGCGGGGGCGGGTGGCGCGGCCTGGTCCGCTGGCCCCGACCCGCCCCTGCGCCCCGCGACCCTCCCGAAGCTCGCACGGCGCCCGGCTCCGTCCCGGGCTGGGCTGCGCACCGCGCCTCCTGCTCCCAGAGCTCGCAGCCGACTGTGCGGGAGCTCTCACCGCCGCCCGCGAGGGCCCGCCCCGCCGGGGCCCGCCACCTCCGCCCCGGCCCGGCCCGGCCCGCTGCCCCTCGAGGCCCCTCCCGCCGCATTCCCGGGCCCCTCTCCCCTCTCCGGAACCGCGTCCCCAGACCTGACACTCGGGGCAAGTGCGCCTCGGAGGACACACCAGCCTGCCCGGAGCCTGGGTTTGAGCCCGCAGCTCACGAGTGTGTGACCTTGGGCCAATTTCGAGGACCCCTCAGGTTATACAGCGAGGCAGCATCTTGAGGGCTGCCATAAAAGGGAGTGACCACTCTCTGGACACTGCAAAGCCCTAGGGAGACTGAGGCACTATTTTTAAAGGCCAGTGTGTCTGACTGGAAACGGAAGCAGGAAGGCTTTGAGAGCCAAAGAATGGGCCCCAGGCTAGACTCGCCTGGGGCACCCAGAGGTACAGGGGACAAGCTGCTTCTCAGTCCCCCGCTCCCATTTCTTTTCTGTTTTGATTGTACTGAGGGCTCCCCAGGGAGGGGTGGTCCCGGTCCCGGTCCCGGGCAGCCCTAGTGTGGACAGAAGACAGGCAACCCGCAGCCACAGCAGGGCCGAGCGGAGAAAGGAAGGGTGGCTATGCCAGGCCTGGCTGCCGAGCCCCATCAAGCCCCCAATGAGGCCCCTGAGCAGGGAGCCGTCTCTGCAGCGCCACCTGGTGATGGTAGGGGAGCTACGGCCAGAAGGTGACCCCCGACCCCAACCCTTCCAAAAAAAGTCCCCCATCAACCATGGCTCTTGGTTGCAGCTGTTTTATTTCCAGCATGTTCCCAACCTGGTGACCCTCCACAGTCCAGCAGTAGAGAGATGGGTAAGGGGTTAGATCGGCCCACACCTCCACCTGTCCCTAAGGTTACCTCAGTTGCTGAAAGCTAAAACCTTGCGCGCAAGGGCGACCTTCCCCAGGAGGGAGGAGAGACGCTGGAAGAGCAGCCAAGCCTCCAAGCCAGGGCCGGCCGGGATCAGCAGAGGTGCAAAGTCCCACTCAGACGGACCCAGCCCTTCCCCTCCCAACACTCATCCCTTCCCTGCTGGGGGCCGGGGCTGGGGCTGGGCTCAGTGGCCCAGGAGGCGCAGCATCTCCTGAGGATCCACCAGCTTCTCCCTGGGCTTCCCCGTGCCCTGGCCCCGGGCCACCTCCTCGGCATCCAGCTTCTCCCAGTCTGAGAAAGAGACTGGCCGGACCCCTGAAGCAGAGGGGAGATTGTCAACACCTCCTCCTTCACCCCTCCCAGAACAGCCCCCTCCCAAAGAGTGAGGCCCAGAGAAGGACCACCCACCCCACCTCCCAGGACCTCAGCATCGGGGCCCAGACCTCGGCTGCTGAGCAGGGCCTGGATGGCTGCGTAGCCAGGCCTGGGGCCAGAGGGGAGCAACCCAGCCTTCAGGTCCTGCAGCAGCATCTGGCCGGTGAGGAAGCTGTCAGTCATGGTTGTGGCTATGACACCTGTAGGTCCTCTCTTCACCCAGCCGCTGCAGTAGAGGCCTGAGAGGGGGTAACAAAAGGGGAAGGGAGGGAGGTGGCTGGATACCACCCTGGCCATCCTGTGCCCACAATCTACACCCACGTGCACGCACACAGACACCCCACGCCTCTTGGCAGACTGTCGGCTGAGCCTGCTGTGGCCGCTGGTCCACTGCCCTGGATTCTTCTCTCCCTGTTTTTACCAGGCCGACCCCCTTACACCTCAGTTTCCCTGTAGATGAGGGGATCCCTAAGCTTAGGAGCTGAGGCTTGCTCCCCTGCAGTTTCAGTAGGCCCTTGGTAAATGTTTACCAAGTGAATTAATCACTAGATAGGTATGTGGGCACTTAGTAAAACTGGAAGCTCCCTGAGGACACAGGCTGCCTTATTAATCTCCAATCCCAGCACTAAGCACAGGGCCTAACCCAGAAAAGACCTCAGTAAACGTTTGTTGAATGACTTAATGACCCGACGTATGTCACATATGTCCTAGCCAGACTGGAACTTCTCTCAGGGCCAAGAGGAGGGCGGCACTGGGTCCTAGAGAGGGCCTGCCCTGCAGAAGCTTCTCAGTACATGTTGCTAGATGAATGAACGCATGGCCCCAGGAGATACCAGCTTCTCGGCCTCTCACCATAATTCAGCACCCAGCCTCCTCACACCCTCTCACCTGGCACATCCATAACCCGGCCCTCCACATTGGGGATGACCCCAAGCTTGGAGTCAAAGGGCACGCTTGGGTCGACAGGGCGGCTCTTATACCCAATGCTGCTGAGCACCAGCCCACAAGGGAGGTCTTCCATGTCTCCCGTGGGCACTGCACGGGTGGCCTCATCGACACCCTGTTGGGGAGAGTGTGGGCAACACCAGGCGGGTGGCAGAGGCCTGGGAAGGGGGTGTCTTTGGGAAACATGAGACTCACCTCCAGTCTAGTGACTGCTAGGCGGACACCTGCTGCCCGCCGCCCATCTGGTGAGGGCAGCACCTGCTGGGGGCTTCGGAAAAAGCGGAGGCCCCAGGCACGGGAGGCCGATGCCTGGCGGGCAGCTTCCGCCGGCCCTGGCTTCTCTGTGGCCGTTCGAAGCAGCAGTTCCGTCAGCCGCTTCCTCGGGCGGGGGACCTCTGTCAGCAACGTAGAATGTCTCCAGGCTGTCCCTGGGCCCCGGCCCTCTCCCTGCATGCCCTTCCCCAATCCCTCTCTGACCTAGGCCACCCTCTCCCTAGTAGTTGGGGGGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGCCCCCTCCACCTGGAACCCTGGCTCCTCCCACTCTGGCCCCAGCACCTTAATGGTGAAGGCCACTTGCAGGGGTCCACGCCGGCCCACTAGCCACACTGTCTTCACTCGACTCTGCCTCAGTACACCCAGGGCT
AGCTGGAAGGGGAAGAAGCGGGACTCGCGGCGGGGGAAGGGGTCTGGGCGCCGAGGCGAGTGCGCAGCAGGTGCCCAGCAGACCTAGGGAAACTGGGGCACTGGGCTGGGGAGCCGCACAGCCCCCTTTCACCTTCTCGACTCCTTTCCAACCCCTCGCTCTGGTGGATCCCAGCCCCGGCCCCCACTCCCGGCCCTGTTCCCCGCTCTCCGCCCCGGCGGCTTCCAGCAGCAACAGTTTGGGTCCGCGGCAGCCCAGACTCCCCTGGTCCCGCGGTGCTGCCGCGCCAAGCGAAGGAGGAGGAGGGCTCGGCGACCCTGGGGACGAACGTCTTGGACGCTTCGCCCGCGTCCTTCTCTCGCGTCCGCCGCGCGCCTGTCTGCTCGGCCTCTTCTTCGCCTTCTCTCCGGCCGCCCGGGTCAAAACCCAAGGCCAGGTTCTTGAGGGTCCGGGTCCTCCAGCCGCCCCCTCCTTGAGCCCCGAGAGTCCTGCGTGGGTCCAACCCCCCGGGTGTCCCGCCTCTGTCTCCGCCGTCCTTGCTCGCGCGCCGCGGGAACCCAGCCCCAAGTTGGCGGCGAAGTTGGTGCCCCTCGCCCGCCGCTCGCCACTTACCGAGGGGAAGGGGCGCTGCGCCCGCGACGAGAGCCCGCGCCGGCCGCCTCCCTCGCGGTGTCTGTCCCAGAGCCTCGGCCCCGGAGGGCTGGCGCGCTCAGTCTCAGCTCCGCGGGCGCCGGAGCCCGGGCGCGGCGGGGCGGGGGCGGGGGCGGGTGGCGCGGCCTGGTCCGCTGGCCCCGACCCGCCCCTGCGCCCCGCGACCCTCCCGAAGCTCGCACGGCGCCCGGCTCCGTCCCGGGCTGGGCTGCGCACCGCGCCTCCTGCTCCCAGAGCTCGCAGCCGACTGTGCGGGAGCTCTCACCGCCGCCCGCGAGGGCCCGCCCCGCCGGGGCCCGCCACCTCCGCCCCGGCCCGGCCCGGCCCGCTGCCCCTCGAGGCCCCTCCCGCCGCATTCCCGGGCCCCTCTCCCCTCTCCGGAACCGCGTCCCCAGACCTGACACTCGGGGCAAGTGCGCCTCGGAGGACACACCAGCCTGCCCGGAGCCTGGGTTTGAGCCCGCAGCTCACGAGTGTGTGACCTTGGGCCAATTTCGAGGACCCCTCAGGTTATACAGCGAGGCAGCATCTTGAGGGCTGCCATAAAAGGGAGTGACCACTCTCTGGACACTGCAAAGCCCTAGGGAGACTGAGGCACTATTTTTAAAGGCCAGTGTGTCTGACTGGAAACGGAAGCAGGAAGGCTTTGAGAGCCAAAGAATGGGCCCCAGGCTAGACTCGCCTGGGGCACCCAGAGGTACAGGGGACAAGCTGCTTCTCAGTCCCCCGCTCCCATTTCTTTTCTGTTTTGATTGTACTGAGGGCTCCCCAGGGAGGGGTGGTCCCGGTCCCGGTCCCGGGCAGCCCTAGTGTGGACAGAAGACAGGCAACCCGCAGCCACAGCAGGGCCGAGCGGAGAAAGGAAGGGTGGCTATGCCAGGCCTGGCTGCCGAGCCCCATCAAGCCCCCAATGAGGCCCCTGAGCAGGGAGCCGTCTCTGCAGCGCCACCTGGTGATGGTAGGGGAGCTACGGCCAGAAGGTGACCCCCGACCCCAACCCTTCCAAAAAAAGTCCCCCATCAACCATGGCTCTTGGTTGCAGCTGTTTTATTTCCAGCATGTTCCCAACCTGGTGACCCTCCACAGTCCAGCAGTAGAGAGATGGGTAAGGGGTTAGATCGGCCCACACCTCCACCTGTCCCTAAGGTTACCTCAGTTGCTGAAAGCTAAAACCTTGCGCGCAAGGGCGACCTTCCCCAGGAGGGAGGAGAGACGCTGGAAGAGCAGCCAAGCCTCCAAGCCAGGGCCGGCCGGGATCAGCAGAGGTGCAAAGTCCCACTCAGACGGACCCAGCCCTTCCCCTCCCAACACTCATCCCTTCCCTGCTGGGGGCCGGGGCTGGGGCTGGGCTCAGTGGCCCAGGAGGCGCAGCATCTCCTGAGGATCCACCAGCTTCTTCCTGGGCTTCCCCGTGCCCTGGCCCCGGGCCACCTCCTCGGCATCCAGCTTCTCCCAGTCTGAGAAAGAGACTGGCCGGACCCCTGAAGCAGAGGGGAGATTGTCAACACCTCCTCCTTCACCCCTCCCAGAACAGCCCCCTCCCAAAGAGTGAGGCCCAGAGAAGGACCACCCACCCCACCTCCCAGGACCTCAGCATCGGGGCCCAGACCTCGGCTGCTGAGCAGGGCCTGGATGGCTGCGTAGCCAGGCCTGGGGCCAGAGGGGAGCAACCCAGCCTTCAGGTCCTGCAGCAGCATCTGGCCGGTGAGGAAGCTGTCAGTCATGGTTGTGGCTATGACACCTGTAGGTCCTCTCTTCACCCAGCCGCTGCAGTAGAGGCCTGAGAGGGGGTAACAAAAGGGGAAGGGAGGGAGGTGGCTGGATACCACCCTGGCCATCCTGTGCCCACAATCTACACCCACGTGCACGCACACAGACACCCCACGCCTCTTGGCAGACTGTCGGCTGAGCCTGCTGTGGCCGCTGGTCCACTGCCCTGGATTCTTCTCTCCCTGTTTTTACCAGGCCGACCCCCTTACACCTCAGTTTCCCTGTAGATGAGGGGATCCCTAAGCTTAGGAGCTGAGGCTTGCTCCCCTGCAGTTTCAGTAGGCCCTTGGTAAATGTTTACCAAGTGAATTAATCACTAGATAGGTATGTGGGCACTTAGTAAAACTGGAAGCTCCCTGAGGACACAGGCTGCCTTATTAATCTCCAATCCCAGCACTAAGCACAGGGCCTAACCCAGAAAAGACCTCAGTAAACGTTTGTTGAATGACTTAATGACCCGACGTATGTCACATATGTCCTAGCCAGACTGGAACTTCTCTCAGGGCCAAGAGGAGGGCGGCACTGGGTCCTAGAGAGGGCCTGCCCTGCAGAAGCTTCTCAGTACATGTTGCTAGATGAATGAACGCATGGCCCCAGGAGATACCAGCTTCTCGGCCTCTCACCATAATTCAGCACCCAGCCTCCTCACACCCTCTCACCTGGCACATCCATAACCCGGCCCTCCACATTGGGGATGACCCCAAGCTTGGAGTCAAAGGGCACGCTTGGGTCGACAGGGCGGCTCTTATACCCAATGCTGCTGAGCACCAGCCCACAAGGGAGGTCTTCCATGTCTCCCGTGGGCACTGCACGGGTGGCCTCATCGACACCCTGTTGGGGAGAGTGTGGGCAACACCAGGCGGGTGGCAGAGGCCTGGGAAGGGGGTGTCTTTGGGAAACATGAGACTCACCTCCAGTCTAGTGACTGCTAGGCGGACACCTGCTGCCCGCCGCCCATCTGGTGAGGGCAGCACCTGCTGGGGGCTTCGGAAAAAGCGGAGGCCCCAGGCACGGGAGGCCGATGCCTGGCGGGCAGCTTCCGCCGGCCCTGGCTTCTCTGTGGCCGTTCGAAGCAGCAGTTCCGTCAGCCGCTTCCTCGGGCGGGGGACCTCTGTCAGCAACGTAGAATGTCTCCAGGCTGTCCCTGGGCCCCGGCCCTCTCCCTGCATGCCCTTCCCCAATCCCTCTCTGACCTAGGCCACCCTCTCCCTAGTAGTTGGGGGGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGCCCCCTCCACCTGGAACCCTGGCTCCTCCCACTCTGGCCCCAGCACCTTAATGGTGAAGGCCACTTGCAGGGGTCCACGCCGGCCCACTAGCCACACTGTCTTCACTCGACTCTGCCTCAGTACACCCAGGGCT
Task1_train_25517
An alteration has been detected in FDXR (ferredoxin reductase) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Auditory neuropathy-optic atrophy syndrome
ATCCACCAGCTTCTCCCTGGGCTTCCCCGTGCCCTGGCCCCGGGCCACCTCCTCGGCATCCAGCTTCTCCCAGTCTGAGAAAGAGACTGGCCGGACCCCTGAAGCAGAGGGGAGATTGTCAACACCTCCTCCTTCACCCCTCCCAGAACAGCCCCCTCCCAAAGAGTGAGGCCCAGAGAAGGACCACCCACCCCACCTCCCAGGACCTCAGCATCGGGGCCCAGACCTCGGCTGCTGAGCAGGGCCTGGATGGCTGCGTAGCCAGGCCTGGGGCCAGAGGGGAGCAACCCAGCCTTCAGGTCCTGCAGCAGCATCTGGCCGGTGAGGAAGCTGTCAGTCATGGTTGTGGCTATGACACCTGTAGGTCCTCTCTTCACCCAGCCGCTGCAGTAGAGGCCTGAGAGGGGGTAACAAAAGGGGAAGGGAGGGAGGTGGCTGGATACCACCCTGGCCATCCTGTGCCCACAATCTACACCCACGTGCACGCACACAGACACCCCACGCCTCTTGGCAGACTGTCGGCTGAGCCTGCTGTGGCCGCTGGTCCACTGCCCTGGATTCTTCTCTCCCTGTTTTTACCAGGCCGACCCCCTTACACCTCAGTTTCCCTGTAGATGAGGGGATCCCTAAGCTTAGGAGCTGAGGCTTGCTCCCCTGCAGTTTCAGTAGGCCCTTGGTAAATGTTTACCAAGTGAATTAATCACTAGATAGGTATGTGGGCACTTAGTAAAACTGGAAGCTCCCTGAGGACACAGGCTGCCTTATTAATCTCCAATCCCAGCACTAAGCACAGGGCCTAACCCAGAAAAGACCTCAGTAAACGTTTGTTGAATGACTTAATGACCCGACGTATGTCACATATGTCCTAGCCAGACTGGAACTTCTCTCAGGGCCAAGAGGAGGGCGGCACTGGGTCCTAGAGAGGGCCTGCCCTGCAGAAGCTTCTCAGTACATGTTGCTAGATGAATGAACGCATGGCCCCAGGAGATACCAGCTTCTCGGCCTCTCACCATAATTCAGCACCCAGCCTCCTCACACCCTCTCACCTGGCACATCCATAACCCGGCCCTCCACATTGGGGATGACCCCAAGCTTGGAGTCAAAGGGCACGCTTGGGTCGACAGGGCGGCTCTTATACCCAATGCTGCTGAGCACCAGCCCACAAGGGAGGTCTTCCATGTCTCCCGTGGGCACTGCACGGGTGGCCTCATCGACACCCTGTTGGGGAGAGTGTGGGCAACACCAGGCGGGTGGCAGAGGCCTGGGAAGGGGGTGTCTTTGGGAAACATGAGACTCACCTCCAGTCTAGTGACTGCTAGGCGGACACCTGCTGCCCGCCGCCCATCTGGTGAGGGCAGCACCTGCTGGGGGCTTCGGAAAAAGCGGAGGCCCCAGGCACGGGAGGCCGATGCCTGGCGGGCAGCTTCCGCCGGCCCTGGCTTCTCTGTGGCCGTTCGAAGCAGCAGTTCCGTCAGCCGCTTCCTCGGGCGGGGGACCTCTGTCAGCAACGTAGAATGTCTCCAGGCTGTCCCTGGGCCCCGGCCCTCTCCCTGCATGCCCTTCCCCAATCCCTCTCTGACCTAGGCCACCCTCTCCCTAGTAGTTGGGGGGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGCCCCCTCCACCTGGAACCCTGGCTCCTCCCACTCTGGCCCCAGCACCTTAATGGTGAAGGCCACTTGCAGGGGTCCACGCCGGCCCACTAGCCACACTGTCTTCACTCGACTCTGCCTCAGTACACCCAGGGCTGCCTTCGTGATGTCCGTTCTCTGGCACAAAAGGAGGGCCTTGGAGTCATCAGACACTGACCGAGGAAAGGGGACTCTCCATTTGGTCATGTCCCCACCGTGGGCCTGGAGAAGGCTGGCGGCTCAAAATTGCGCCACTGCTCCCCCCTGGTGGCCAGATGGAGCATTGCTGCCAACTCTGCAAATGGCTCCAACTAATAGCACACCAGGCCCACACTTTCATTCAACAAGTATGTAGTGGGCCTCTACCATGTGCTCACCCCCATGCAAAGAGCTTGGAGGGGCGGGGTGGTCAATGGTGAGGAAAAGAGACAAGGAGCAGGCCCTCTCAGAGCTTGTGATCTGCTGGGGAGAGAAATACTCATCAAATACTCATCAATGTGTGTAAAATTGCTGTGGCGATGATATGCGGTGAAACAGAAGTAGACAGGTCTATGGGAGGAGGCACGATGGGGGAGTGGACCAATTCAGGGAAGTCCTGGAGGAAGGGACAACCGAGCCAAGATCTCAAAGATGAACTTTAACTGTTAACTGGTGGGAGGTGAGTGGGGATGATCCAAGCAGGGGATGTGGCTTACTGAAGAGTAAGAGAAAAACGCCACTTAGCTGGAGTGCAGAAAGTGAAGGGAAAATGGTAGAAGAGGAAGCTCATGGCACTGCCCTTCAGAGAGCCTCTGCCTGGGCACCACGGGGAAACAGAGGCACTGAGCCCAGCTTGGAGAGGTAAGGCCTGAACCCTGCAGACAAGGGCACTCTCTCCTCAGGGTGACCCCACCTCCAACCCCGCCAGCCCTGACCTACCACTCACCTCCAGGTGCTCAGGTGGGGTCAGTAGGATGCGGGCCACGTCCAGAGCCACGTTCCCCTGCCCCAGAATCACGGCTGTGTCACAGCTCAGGTCTGGCTCCAGCTGGAGGGGAAAGGTCTTGATAGGGTCCCCCAGCCTCGCTCCACTCAGTTCATCTCAGTCTGCAGGTGCCTCATGCCTGGTCCCCACTGTGCCCTGGGGCTTCCCCACACCGGGAAAGTCCACAACTCTGGTCCCTCCTCCCCCACCTGGACCCAGCTCTCCCCCGAGGCCCTCCACAGCTGGCCTCCCGCCTCAGTCAGCACAATGTCACAGCTCGCCACTGGATGGCAGCTCCCTCTTCCCCCAGGTCTGGCATCCAAGGGCTGAGGGGCGGGGAGGAAGAGGCAGCGGGCGTGCTCCCCATACTCACCTCCTGGTTCTCAGGAAGCCCGTTGTACCAGCCCACGAAGGCCCGGGCGGAGCACACACCTGGCAGCTCCTCACCAGGAATTTCCAGGGCCCGATGGTCCTCTGCCCCGTAGCTCTGATGAAAGATGGCAGGCCCGAGACCCACAGCCTTCAGCACCAGCACTGATAGGCCGGGCAGCCCCCCAGGCTCCCAGCGGCCTCCTTCCAGCTTCTCAGCAGCTTGCATCCTGGCCTCACCCCTGCTGCCTTCCACCCCGAGCCACCGGCCTCCTTCTGCAGCCCCTGCCTCCCCAAGCCAGGGCCTAGCTGCACTCACCAGCACCACAGCGTGGTAGGCCTCCTGCAGCTCCGGCACCGTCACGTCCCTGCCCACCTCCACGTTGCCCCAGAAGGCACAGCGGCCAGAATGGGCCGTCTGGGTAAATGTGTTGATGACATTCTGCCAGGTCCCCCGGGAATGGGAGGGGTTAGAGGGTAAGGCAGCTCCAGGGACCAAGTCTGCACCACCCTCACCACTCTGTGTCCCCAGGAGGGAAGCTGGGTGGCATGGGCACAGACGGCATGAAGTCCTGTCATCCAGCCAGGGAGCCTCCCTGCCCTCCTCATCTTGACCAAAGTCTCCAAACCCCAGCCTCCAGGCCCAGAGACACCCACCTTCACCTCGGGGTGATCAGGCGCCACACCAAAGCGCACCAGGCCAAAGGGCACAGGCTGTTTCTCGTAGATGTCCACGTGGGCCTGGGGGTGCTGCTGGGGAACAGGGTGGCAGCTGGTGGGGCCGAGAGAGAGAGGCTGGGACGCCCCCAGGTCCTCCCC
ATCCACCAGCTTCTCCCTGGGCTTCCCCGTGCCCTGGCCCCGGGCCACCTCCTCGGCATCCAGCTTCTCCCAGTCTGAGAAAGAGACTGGCCGGACCCCTGAAGCAGAGGGGAGATTGTCAACACCTCCTCCTTCACCCCTCCCAGAACAGCCCCCTCCCAAAGAGTGAGGCCCAGAGAAGGACCACCCACCCCACCTCCCAGGACCTCAGCATCGGGGCCCAGACCTCGGCTGCTGAGCAGGGCCTGGATGGCTGCGTAGCCAGGCCTGGGGCCAGAGGGGAGCAACCCAGCCTTCAGGTCCTGCAGCAGCATCTGGCCGGTGAGGAAGCTGTCAGTCATGGTTGTGGCTATGACACCTGTAGGTCCTCTCTTCACCCAGCCGCTGCAGTAGAGGCCTGAGAGGGGGTAACAAAAGGGGAAGGGAGGGAGGTGGCTGGATACCACCCTGGCCATCCTGTGCCCACAATCTACACCCACGTGCACGCACACAGACACCCCACGCCTCTTGGCAGACTGTCGGCTGAGCCTGCTGTGGCCGCTGGTCCACTGCCCTGGATTCTTCTCTCCCTGTTTTTACCAGGCCGACCCCCTTACACCTCAGTTTCCCTGTAGATGAGGGGATCCCTAAGCTTAGGAGCTGAGGCTTGCTCCCCTGCAGTTTCAGTAGGCCCTTGGTAAATGTTTACCAAGTGAATTAATCACTAGATAGGTATGTGGGCACTTAGTAAAACTGGAAGCTCCCTGAGGACACAGGCTGCCTTATTAATCTCCAATCCCAGCACTAAGCACAGGGCCTAACCCAGAAAAGACCTCAGTAAACGTTTGTTGAATGACTTAATGACCCGACGTATGTCACATATGTCCTAGCCAGACTGGAACTTCTCTCAGGGCCAAGAGGAGGGCGGCACTGGGTCCTAGAGAGGGCCTGCCCTGCAGAAGCTTCTCAGTACATGTTGCTAGATGAATGAACGCATGGCCCCAGGAGATACCAGCTTCTCGGCCTCTCACCATAATTCAGCACCCAGCCTCCTCACACCCTCTCACCTGGCACATCCATAACCCGGCCCTCCACATTGGGGATGACCCCAAGCTTGGAGTCAAAGGGCACGCTTGGGTCGACAGGGCGGCTCTTATACCCAATGCTGCTGAGCACCAGCCCACAAGGGAGGTCTTCCATGTCTCCCGTGGGCACTGCACGGGTGGCCTCATCGACACCCTGTTGGGGAGAGTGTGGGCAACACCAGGCGGGTGGCAGAGGCCTGGGAAGGGGGTGTCTTTGGGAAACATGAGACTCACCTCCAGTCTAGTGACTGCTAGGCGGACACCTGCTGCCCGCCGCCCATCTGGTGAGGGCAGCACCTGCTGGGGGCTTCGGAAAAAGCGGAGGCCCCAGGCACGGGAGGCCGATGCCTGGCGGGCAGCTTCCGCCGGCCCTGGCTTCTCTGTGGCCGTTCGAAGCAGCAGTTCCGTCAGCCGCTTCCTCGGGCGGGGGACCTCTGTCAGCAACGTAGAATGTCTCCAGGCTGTCCCTGGGCCCCGGCCCTCTCCCTGCATGCCCTTCCCCAATCCCTCTCTGACCTAGGCCACCCTCTCCCTAGTAGTTGGGGGGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGCCCCCTCCACCTGGAACCCTGGCTCCTCCCACTCTGGCCCCAGCACCTTAATGGTGAAGGCCACTTGCAGGGGTCCACGCCGGCCCACTAGCCACACTGTCTTCACTCGACTCTGCCTCACTACACCCAGGGCTGCCTTCGTGATGTCCGTTCTCTGGCACAAAAGGAGGGCCTTGGAGTCATCAGACACTGACCGAGGAAAGGGGACTCTCCATTTGGTCATGTCCCCACCGTGGGCCTGGAGAAGGCTGGCGGCTCAAAATTGCGCCACTGCTCCCCCCTGGTGGCCAGATGGAGCATTGCTGCCAACTCTGCAAATGGCTCCAACTAATAGCACACCAGGCCCACACTTTCATTCAACAAGTATGTAGTGGGCCTCTACCATGTGCTCACCCCCATGCAAAGAGCTTGGAGGGGCGGGGTGGTCAATGGTGAGGAAAAGAGACAAGGAGCAGGCCCTCTCAGAGCTTGTGATCTGCTGGGGAGAGAAATACTCATCAAATACTCATCAATGTGTGTAAAATTGCTGTGGCGATGATATGCGGTGAAACAGAAGTAGACAGGTCTATGGGAGGAGGCACGATGGGGGAGTGGACCAATTCAGGGAAGTCCTGGAGGAAGGGACAACCGAGCCAAGATCTCAAAGATGAACTTTAACTGTTAACTGGTGGGAGGTGAGTGGGGATGATCCAAGCAGGGGATGTGGCTTACTGAAGAGTAAGAGAAAAACGCCACTTAGCTGGAGTGCAGAAAGTGAAGGGAAAATGGTAGAAGAGGAAGCTCATGGCACTGCCCTTCAGAGAGCCTCTGCCTGGGCACCACGGGGAAACAGAGGCACTGAGCCCAGCTTGGAGAGGTAAGGCCTGAACCCTGCAGACAAGGGCACTCTCTCCTCAGGGTGACCCCACCTCCAACCCCGCCAGCCCTGACCTACCACTCACCTCCAGGTGCTCAGGTGGGGTCAGTAGGATGCGGGCCACGTCCAGAGCCACGTTCCCCTGCCCCAGAATCACGGCTGTGTCACAGCTCAGGTCTGGCTCCAGCTGGAGGGGAAAGGTCTTGATAGGGTCCCCCAGCCTCGCTCCACTCAGTTCATCTCAGTCTGCAGGTGCCTCATGCCTGGTCCCCACTGTGCCCTGGGGCTTCCCCACACCGGGAAAGTCCACAACTCTGGTCCCTCCTCCCCCACCTGGACCCAGCTCTCCCCCGAGGCCCTCCACAGCTGGCCTCCCGCCTCAGTCAGCACAATGTCACAGCTCGCCACTGGATGGCAGCTCCCTCTTCCCCCAGGTCTGGCATCCAAGGGCTGAGGGGCGGGGAGGAAGAGGCAGCGGGCGTGCTCCCCATACTCACCTCCTGGTTCTCAGGAAGCCCGTTGTACCAGCCCACGAAGGCCCGGGCGGAGCACACACCTGGCAGCTCCTCACCAGGAATTTCCAGGGCCCGATGGTCCTCTGCCCCGTAGCTCTGATGAAAGATGGCAGGCCCGAGACCCACAGCCTTCAGCACCAGCACTGATAGGCCGGGCAGCCCCCCAGGCTCCCAGCGGCCTCCTTCCAGCTTCTCAGCAGCTTGCATCCTGGCCTCACCCCTGCTGCCTTCCACCCCGAGCCACCGGCCTCCTTCTGCAGCCCCTGCCTCCCCAAGCCAGGGCCTAGCTGCACTCACCAGCACCACAGCGTGGTAGGCCTCCTGCAGCTCCGGCACCGTCACGTCCCTGCCCACCTCCACGTTGCCCCAGAAGGCACAGCGGCCAGAATGGGCCGTCTGGGTAAATGTGTTGATGACATTCTGCCAGGTCCCCCGGGAATGGGAGGGGTTAGAGGGTAAGGCAGCTCCAGGGACCAAGTCTGCACCACCCTCACCACTCTGTGTCCCCAGGAGGGAAGCTGGGTGGCATGGGCACAGACGGCATGAAGTCCTGTCATCCAGCCAGGGAGCCTCCCTGCCCTCCTCATCTTGACCAAAGTCTCCAAACCCCAGCCTCCAGGCCCAGAGACACCCACCTTCACCTCGGGGTGATCAGGCGCCACACCAAAGCGCACCAGGCCAAAGGGCACAGGCTGTTTCTCGTAGATGTCCACGTGGGCCTGGGGGTGCTGCTGGGGAACAGGGTGGCAGCTGGTGGGGCCGAGAGAGAGAGGCTGGGACGCCCCCAGGTCCTCCCC
Task1_train_25518
The gene FDXR (ferredoxin reductase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Auditory neuropathy-optic atrophy syndrome
GGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGCCCCCTCCACCTGGAACCCTGGCTCCTCCCACTCTGGCCCCAGCACCTTAATGGTGAAGGCCACTTGCAGGGGTCCACGCCGGCCCACTAGCCACACTGTCTTCACTCGACTCTGCCTCAGTACACCCAGGGCTGCCTTCGTGATGTCCGTTCTCTGGCACAAAAGGAGGGCCTTGGAGTCATCAGACACTGACCGAGGAAAGGGGACTCTCCATTTGGTCATGTCCCCACCGTGGGCCTGGAGAAGGCTGGCGGCTCAAAATTGCGCCACTGCTCCCCCCTGGTGGCCAGATGGAGCATTGCTGCCAACTCTGCAAATGGCTCCAACTAATAGCACACCAGGCCCACACTTTCATTCAACAAGTATGTAGTGGGCCTCTACCATGTGCTCACCCCCATGCAAAGAGCTTGGAGGGGCGGGGTGGTCAATGGTGAGGAAAAGAGACAAGGAGCAGGCCCTCTCAGAGCTTGTGATCTGCTGGGGAGAGAAATACTCATCAAATACTCATCAATGTGTGTAAAATTGCTGTGGCGATGATATGCGGTGAAACAGAAGTAGACAGGTCTATGGGAGGAGGCACGATGGGGGAGTGGACCAATTCAGGGAAGTCCTGGAGGAAGGGACAACCGAGCCAAGATCTCAAAGATGAACTTTAACTGTTAACTGGTGGGAGGTGAGTGGGGATGATCCAAGCAGGGGATGTGGCTTACTGAAGAGTAAGAGAAAAACGCCACTTAGCTGGAGTGCAGAAAGTGAAGGGAAAATGGTAGAAGAGGAAGCTCATGGCACTGCCCTTCAGAGAGCCTCTGCCTGGGCACCACGGGGAAACAGAGGCACTGAGCCCAGCTTGGAGAGGTAAGGCCTGAACCCTGCAGACAAGGGCACTCTCTCCTCAGGGTGACCCCACCTCCAACCCCGCCAGCCCTGACCTACCACTCACCTCCAGGTGCTCAGGTGGGGTCAGTAGGATGCGGGCCACGTCCAGAGCCACGTTCCCCTGCCCCAGAATCACGGCTGTGTCACAGCTCAGGTCTGGCTCCAGCTGGAGGGGAAAGGTCTTGATAGGGTCCCCCAGCCTCGCTCCACTCAGTTCATCTCAGTCTGCAGGTGCCTCATGCCTGGTCCCCACTGTGCCCTGGGGCTTCCCCACACCGGGAAAGTCCACAACTCTGGTCCCTCCTCCCCCACCTGGACCCAGCTCTCCCCCGAGGCCCTCCACAGCTGGCCTCCCGCCTCAGTCAGCACAATGTCACAGCTCGCCACTGGATGGCAGCTCCCTCTTCCCCCAGGTCTGGCATCCAAGGGCTGAGGGGCGGGGAGGAAGAGGCAGCGGGCGTGCTCCCCATACTCACCTCCTGGTTCTCAGGAAGCCCGTTGTACCAGCCCACGAAGGCCCGGGCGGAGCACACACCTGGCAGCTCCTCACCAGGAATTTCCAGGGCCCGATGGTCCTCTGCCCCGTAGCTCTGATGAAAGATGGCAGGCCCGAGACCCACAGCCTTCAGCACCAGCACTGATAGGCCGGGCAGCCCCCCAGGCTCCCAGCGGCCTCCTTCCAGCTTCTCAGCAGCTTGCATCCTGGCCTCACCCCTGCTGCCTTCCACCCCGAGCCACCGGCCTCCTTCTGCAGCCCCTGCCTCCCCAAGCCAGGGCCTAGCTGCACTCACCAGCACCACAGCGTGGTAGGCCTCCTGCAGCTCCGGCACCGTCACGTCCCTGCCCACCTCCACGTTGCCCCAGAAGGCACAGCGGCCAGAATGGGCCGTCTGGGTAAATGTGTTGATGACATTCTGCCAGGTCCCCCGGGAATGGGAGGGGTTAGAGGGTAAGGCAGCTCCAGGGACCAAGTCTGCACCACCCTCACCACTCTGTGTCCCCAGGAGGGAAGCTGGGTGGCATGGGCACAGACGGCATGAAGTCCTGTCATCCAGCCAGGGAGCCTCCCTGCCCTCCTCATCTTGACCAAAGTCTCCAAACCCCAGCCTCCAGGCCCAGAGACACCCACCTTCACCTCGGGGTGATCAGGCGCCACACCAAAGCGCACCAGGCCAAAGGGCACAGGCTGTTTCTCGTAGATGTCCACGTGGGCCTGGGGGTGCTGCTGGGGAACAGGGTGGCAGCTGGTGGGGCCGAGAGAGAGAGGCTGGGACGCCCCCAGGTCCTCCCCTTCCCCAGACAGAGCAGGAGAGTTCAGGACCCTGGGCTGAGAACACAAGGCTTCCACCCTCTGCAAGGAAAAAGAGCACTCACTCCTTGGGTGGCTCGCGCCTGTCAGCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATAACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAGATTAGCTGAGCGTGGTGGTAGGCACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCGAAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACGACGACGGCCGGCCCTCAGAGATGGGGAGAAATGTGGCCAGCTGACAAGGCCGTGGCTTCCCCCGACTGGAATTATATCAGGGCGGCTTCTTTATCTTCTCAGGTCAAGCACAACCCACAGCCCTGGCCTCCAACCCTTCGACACTTGGGACCCTCAGGTCCCAGCCAGTCTGAGGACCTGAGGGCCACCCTCTGAATTCACAGGTGCCTTAGCTCTAGTGCCCAGGACCATGCTCTGGGGAAAGGGGAGCAGCAGGACAGGGAGGGGGCACGGCTGGGAATTCACGGGAAAGAGAGGTGGAAATGGGCCTGCTCCCACTCTTAGAAAGACAGTCTCAGGCACTGGTTCTGCATGACCGCCTTCCCAGGGCACCTTGAGAGGCCGTGTGAAAGGCACAGGGTCGGGGGTCCAGCAGGCAAGTCTGGTATGGCTCTGCCACCAACCAGCCACATGATCCCAGCAAGTCCCAGGGCCTCCCCAAGTCTCAGTCTCCCCCTCTGCACACTAGGATGGATGACAGCTCTCTCTCATGGCTGCTGGAAAGCACCAGGAGGTCAGGATGGTGAGACTCTGGGCCACAGGCCGGTTAGCAGTAAAGCAGTCAGGGGTCCCACAGCTGACACGCCCAGCCCCCCATCCTATCTTAGGTCCCCGCTATGACACCTCCAGCTTCACTGGGACTCAAGGCAAAGAAGCCCCTGCCCATCAGTCTCCCTACCCCCAACAAAGGCTCCCACCCACCTCTTCGCCTTTGCCCAAATCCCCCCTTCCCCTCCACTCCCCTGCCTGCACCCAAGTCCACCCTCCCCCACCTCCTGCCTCTCTCCATCCCAGGCCAGCCACAGGGGGCTACCCAAACCACCTCCCTCAAGCCCCACGATGTTGTACCCACAAAGCGCTCTGGGCTTGGAGTCAAACAGGTAGCCTTGGATGCCAGTCCCAGCTCTAGCACTAGCTGGCTCTGTGCACTGGGGAAAGTTTCTTCTCTGTCCAAAAGAAGAGCCCTGTGGTGTCCTGCTCAAGGTTAAATGAGTAATCAGGCAGCCCGGGGTGCAACCTACTCTGAGTGTTCAATCAAGAAGAGAGCTATCATTACTATTCTGTTGTTGTATGTCACTGCCTTGCTCAAAAATCTTCGCTGGGGCCCAGTGCCACAGCATAAAGTTCAAACTGCTCGGCCTAGAGGTCAACACCTCACCCAACCAACCTCTCTGTCC
GGCCAGGCCAGGGCCCCTCACCCTTGATCTTGTCCTGGAGACCCAAGAAATCCACAGGATCCAAAATGGGCCGGGCTCCCGGTAACTGAATCATCTCCCGAAGCTCCTTGAAGGTGGGAGCAGGGAATGGGGGAGGAGGTCAGGCCCAGAACACAGTCCACCTGAGCCCACCCCAGGGTCCAGCCCAGGCAGGAGAGACCACCACCCGCCTCCTCCCCAAAGGCACAGGGCCCCCGGGGCCCTGACTGCTCCCCTTCTTCCATCCCAGGCAGCAGCTACTCCCAGGGGCTCTGCCCCACCCCAACCCCTTAAGGAGAGGCCCCCTCCACCTGGAACCCTGGCTCCTCCCACTCTGGCCCCAGCACCTTAATGGTGAAGGCCACTTGCAGGGGTCCACGCCGGCCCACTAGCCACACTGTCTTCACTCGACTCTGCCTCAGTACACCCAGGGCTGCCTTCGTGATGTCCGTTCTCTGGCACAAAAGGAGGGCCTTGGAGTCATCAGACACTGACCGAGGAAAGGGGACTCTCCATTTGGTCATGTCCCCACCGTGGGCCTGGAGAAGGCTGGCGGCTCAAAATTGCGCCACTGCTCCCCCCTGGTGGCCAGATGGAGCATTGCTGCCAACTCTGCAAATGGCTCCAACTAATAGCACACCAGGCCCACACTTTCATTCAACAAGTATGTAGTGGGCCTCTACCATGTGCTCACCCCCATGCAAAGAGCTTGGAGGGGCGGGGTGGTCAATGGTGAGGAAAAGAGACAAGGAGCAGGCCCTCTCAGAGCTTGTGATCTGCTGGGGAGAGAAATACTCATCAAATACTCATCAATGTGTGTAAAATTGCTGTGGCGATGATATGCGGTGAAACAGAAGTAGACAGGTCTATGGGAGGAGGCACGATGGGGGAGTGGACCAATTCAGGGAAGTCCTGGAGGAAGGGACAACCGAGCCAAGATCTCAAAGATGAACTTTAACTGTTAACTGGTGGGAGGTGAGTGGGGATGATCCAAGCAGGGGATGTGGCTTACTGAAGAGTAAGAGAAAAACGCCACTTAGCTGGAGTGCAGAAAGTGAAGGGAAAATGGTAGAAGAGGAAGCTCATGGCACTGCCCTTCAGAGAGCCTCTGCCTGGGCACCACGGGGAAACAGAGGCACTGAGCCCAGCTTGGAGAGGTAAGGCCTGAACCCTGCAGACAAGGGCACTCTCTCCTCAGGGTGACCCCACCTCCAACCCCGCCAGCCCTGACCTACCACTCACCTCCAGGTGCTCAGGTGGGGTCAGTAGGATGCGGGCCACGTCCAGAGCCACGTTCCCCTGCCCCAGAATCACGGCTGTGTCACAGCTCAGGTCTGGCTCCAGCTGGAGGGGAAAGGTCTTGATAGGGTCCCCCAGCCTCGCTCCACTCAGTTCATCTCAGTCTGCAGGTGCCTCATGCCTGGTCCCCACTGTGCCCTGGGGCTTCCCCACACCGGGAAAGTCCACAACTCTGGTCCCTCCTCCCCCACCTGGACCCAGCTCTCCCCCGAGGCCCTCCACAGCTGGCCTCCCGCCTCAGTCAGCACAATGTCACAGCTCGCCACTGGATGGCAGCTCCCTCTTCCCCCAGGTCTGGCATCCAAGGGCTGAGGGGCGGGGAGGAAGAGGCAGCGGGCGTGCTCCCCATACTCACCTCCTGGTTCTCAGGAAGCCCGTTGTACCAGCCCACGAAGGCCCGGGCGGAGCACACACCTGGCAGCTCCTCACCAGGAATTTCCAGGGCCCGATGGTCCTCTGCCCCGTAGCTCTGATGAAAGATGGCAGGCCCGAGACCCACAGCCTTCAGCACCAGCACTGATAGGCCGGGCAGCCCCCCAGGCTCCCAGCGGCCTCCTTCCAGCTTCTCAGCAGCTTGCATCCTGGCCTCACCCCTGCTGCCTTCCACCCCGAGCCACCGGCCTCCTTCTGCAGCCCCTGCCTCCCCAAGCCAGGGCCTAGCTGCACTCACCAGCACCACAGCGTGGTAGGCCTCCTGCAGCTCCGGCACCGTCACGTCCCTGCCCACCTCCGCGTTGCCCCAGAAGGCACAGCGGCCAGAATGGGCCGTCTGGGTAAATGTGTTGATGACATTCTGCCAGGTCCCCCGGGAATGGGAGGGGTTAGAGGGTAAGGCAGCTCCAGGGACCAAGTCTGCACCACCCTCACCACTCTGTGTCCCCAGGAGGGAAGCTGGGTGGCATGGGCACAGACGGCATGAAGTCCTGTCATCCAGCCAGGGAGCCTCCCTGCCCTCCTCATCTTGACCAAAGTCTCCAAACCCCAGCCTCCAGGCCCAGAGACACCCACCTTCACCTCGGGGTGATCAGGCGCCACACCAAAGCGCACCAGGCCAAAGGGCACAGGCTGTTTCTCGTAGATGTCCACGTGGGCCTGGGGGTGCTGCTGGGGAACAGGGTGGCAGCTGGTGGGGCCGAGAGAGAGAGGCTGGGACGCCCCCAGGTCCTCCCCTTCCCCAGACAGAGCAGGAGAGTTCAGGACCCTGGGCTGAGAACACAAGGCTTCCACCCTCTGCAAGGAAAAAGAGCACTCACTCCTTGGGTGGCTCGCGCCTGTCAGCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATAACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAGATTAGCTGAGCGTGGTGGTAGGCACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCGAAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACGACGACGGCCGGCCCTCAGAGATGGGGAGAAATGTGGCCAGCTGACAAGGCCGTGGCTTCCCCCGACTGGAATTATATCAGGGCGGCTTCTTTATCTTCTCAGGTCAAGCACAACCCACAGCCCTGGCCTCCAACCCTTCGACACTTGGGACCCTCAGGTCCCAGCCAGTCTGAGGACCTGAGGGCCACCCTCTGAATTCACAGGTGCCTTAGCTCTAGTGCCCAGGACCATGCTCTGGGGAAAGGGGAGCAGCAGGACAGGGAGGGGGCACGGCTGGGAATTCACGGGAAAGAGAGGTGGAAATGGGCCTGCTCCCACTCTTAGAAAGACAGTCTCAGGCACTGGTTCTGCATGACCGCCTTCCCAGGGCACCTTGAGAGGCCGTGTGAAAGGCACAGGGTCGGGGGTCCAGCAGGCAAGTCTGGTATGGCTCTGCCACCAACCAGCCACATGATCCCAGCAAGTCCCAGGGCCTCCCCAAGTCTCAGTCTCCCCCTCTGCACACTAGGATGGATGACAGCTCTCTCTCATGGCTGCTGGAAAGCACCAGGAGGTCAGGATGGTGAGACTCTGGGCCACAGGCCGGTTAGCAGTAAAGCAGTCAGGGGTCCCACAGCTGACACGCCCAGCCCCCCATCCTATCTTAGGTCCCCGCTATGACACCTCCAGCTTCACTGGGACTCAAGGCAAAGAAGCCCCTGCCCATCAGTCTCCCTACCCCCAACAAAGGCTCCCACCCACCTCTTCGCCTTTGCCCAAATCCCCCCTTCCCCTCCACTCCCCTGCCTGCACCCAAGTCCACCCTCCCCCACCTCCTGCCTCTCTCCATCCCAGGCCAGCCACAGGGGGCTACCCAAACCACCTCCCTCAAGCCCCACGATGTTGTACCCACAAAGCGCTCTGGGCTTGGAGTCAAACAGGTAGCCTTGGATGCCAGTCCCAGCTCTAGCACTAGCTGGCTCTGTGCACTGGGGAAAGTTTCTTCTCTGTCCAAAAGAAGAGCCCTGTGGTGTCCTGCTCAAGGTTAAATGAGTAATCAGGCAGCCCGGGGTGCAACCTACTCTGAGTGTTCAATCAAGAAGAGAGCTATCATTACTATTCTGTTGTTGTATGTCACTGCCTTGCTCAAAAATCTTCGCTGGGGCCCAGTGCCACAGCATAAAGTTCAAACTGCTCGGCCTAGAGGTCAACACCTCACCCAACCAACCTCTCTGTCC
Task1_train_25519
The gene USH1G (USH1 protein network component sans) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Usher syndrome type 1G
CCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAACAGATCTCACATGAGGCCCTCCAGAGGCATCATTTTCACCCAGGGCAGCCATCTGGACAACTTAGCCTCCCCATCTCTCGGCAGGCCAATTGTCAGGGATGGGGGACGCCAGCCTATGGGTGACCTCCCCATCCCCAAAACTCTGAACCAGCCTGCCTCCCCACACCCATCCCTGCCCCAGCCATTCAGGATAACGGCCATAGATACCTAAGAGGAAATGAGGACAAAGTTTGTTGGGCCTGTGGGATGCCATTGGGGAGGGGCCAGGGCAGGGGCTGGCCACAGCATGACCATTGTGGTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAG
CCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAACAGATCTCACATGAGGCCCTCCAGAGGCATCATTTTCACCCAGGGCAGCCATCTGGACAACTTAGCCTCCCCATCTCTCGGCAGGCCAATTGTCAGGGATGGGGGACGCCAGCCTATGGGTGACCTCCCCATCCCCAAAACTCTGAACCAGCCTGCCTCCCCACACCCATCCCTGCCCCAGCCATTCAGGATAACGGCCATAGATACCTAAGAGGAAATGAGGACAAAGTTTGTTGGGCCTGTGGGATGCCATTGGGGAGGGGCCAGGGCAGGGGCTGGCCACAGCATGACCATTGTGGTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATAGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAG
Task1_train_25520
Given a variant located on Chromosome 17 and affecting USH1G (USH1 protein network component sans), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Usher syndrome type 1G
ATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCATAATCAGGAACCCCCAAATCCCGGTTTCTCCCCTCCTAGCCCCAGATCCAGGTCACAAGTGTTAACAAGTGTCAGATGCCTCCGCTTGGGTCCCCTCAACATGTGTCTCTCCCACAAACGCCAGGGTCTAAGGGTCCGCCTGTCTGCAGGGGAAGGAGGCAGCTCAGAGGAGTGGTGGACGAGGAAGTTTGGGGTGGTCTCAGGGGCCTCAAGGGCACTGGGTGGGGCGTACTCACCCGCGGCTCACAATGAGACGCAGCGACTCGAGGTTGCCATGGTAGGCAGCCCAGAGAGTGGGGGTCATGCCATCCTCGTCGGGGGCATTCAGCTCCTTTCGGGTGGCCTCCTTGAGGAGCTCCAGGTAGCCATCCCGGGCTGCCCGGTGGTACTGGTCGTTCATGGCGCCCGAAGTGGACGGGGCGGGCGGGGGACACGGAGAAAGGCCCCCCGCAGGGGAGGGCGGCGGTATTAGGGCTGAGGCATGAGGTTGGAGGACGGGGCCGGGCAGGGGCCGGGGCCGCCAGCCCCCGCTGCCGCAGACGGAGGGTGCGGAGCGCCAGAGCCGCGACTACCAAGACATCTGAAACGCTCACCCGGGGGCGGGGGCGGAGGGGGCGGGGGACGAAATCTCCCGCTGTCCAGGGAGCCGCCCCCGGTCTTCCCCTGGGTCCTAAACACCCTGCATGCACCTCAATACACGAGGGTGACCCACGCAAGGCCCTGTCCTCCTCTTCAAAAGTGCCCACCCCGGGGCCGCGCACTGTGACGCCCAGTCCGGGGACAGTCAGAGATCTGTCCTCACTAGAGCCTGGGGCGCTGTGGCTCCGTATTTCTCCACCTGTCAGTGGAACGAACCGAGAGCTGGGGAGGGGTGCCGGAGGGCGGGGTGGGGGAGCCGTCCTGAGCCCCAGGACAGTGGACCTAAGAAGGGGCACCGTGACCGACCGCGGTTCGGTCAGCGAGTGGGACGGGCCAGGCCGCCGCCGCCTGAACGGAGTCCCTCGACCGCACTCCAGCAGGGGGCGCTGGAGGACTGGCAGCGGCTCCGCGTGCCGCGTGGAACTTCGCACCCAAGCCCCGGAGTCCAACGGAGCGCGGGCCGGCGGCGGGGGCGGGCAGGGCGGTGGGATAGAGGAAAGGGGAGCTTGGATCACTGCGAGGACCGTGGGGGAGAGGGGAACTGGGGTTGCCATCCCAGGCAGGAGCACAGGAGCACAGGATTCAGGGTGCGCCGCGGCTGGAGGGCGTCAGGGTGCCCGCAGGCTTTTTGGACGTCTCTTGAGCTTAGCTCTCGGGGCTCTGGGCGCCTGGAATGCTGCGCGCCAGGGCGCGGTGGGCACCAGGGGCGGGGTGCCCTCTAGGTGCCGCAGTGCGGGGCCGCGCCCGAGCCTGGCCGCACCGGGGTGACGGAGTGGGGTCGCCTCTCAAAGGGTAAATATGAATCTTGCCTTATCTGGCTCCAGCGGGCTCTTCCCTAAATTCACCTTGGAGAAAGATGGATCATGTGAGCGGGACTGAGAGCTTTATGGAGCCAAACTCCCGCAGCTGTAAATCACCCTGTCCTCCTGGGTATAAAGCGCCTGTCCATCTCGGCGTGGGAGAGAGGAGACGCTCGCCGTCCCCTGACCCCCAGCTCAGCGCCGGCTCCAAGCCCAGCCAGGTGGGTGCCCCGGGCCGGAGGGCAGTCGGACTTGGGGAGTGGGGACCTTGGAGGGGTCCAACCGGGTGCTGCCGCTTCTCCTTTCTTCCCATCCAGCGAGAGGGGCAGGTTCCGCATTTTCTCTTCCCCTTTCCCAGCGCTTCCTCCAGCACCCGAAGCCCCAACCCTGCGGGTCAGGAACTCCCTAGTCCCCAAGTCTAGGGATGAGATGGGGGAAGGAGAGCCGTCAGGGTTGACCTGGAGTTTTGTCCGCTCCTCCCCTACAGTGATCCCTCTAGCCTTCTCCAGTCGCCTCCGCCATGTCCGAGGAGCTGGCCCAGGGCCCCAAGGAGAGCCCCCCGGCGCCGCGTGCGGGCCCCAGGGAGGTGTGGAAGAAGGGTGGCCGCCTGCTGTCGGTGCTGCTGGCGGTGAACGTGCTGCTCCTCGCCTGCACGCTCATCAGCGGCGGAGCCTTCAACAAGGTGGCCGTGTACGACACCGACGTGTTCGCGCTGCTCACTGCGATGATGCTGCTGGCAACGCTCTGGATCCTCTTCTACCTCCTCCGAACCGTGCGCTGCCCCTGCGCGGTACCCTACCGGGACGCGCACGCTGGCCCCATCTGGCTCCGAGGTGCCAGGGGAGGTGGGGGCGAGGTAGGGTGGG
ATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCATAATCAGGAACCCCCAAATCCCGGTTTCTCCCCTCCTAGCCCCAGATCCAGGTCACAAGTGTTAACAAGTGTCAGATGCCTCCGCTTGGGTCCCCTCAACATGTGTCTCTCCCACAAACGCCAGGGTCTAAGGGTCCGCCTGTCTGCAGGGGAAGGAGGCAGCTCAGAGGAGTGGTGGACGAGGAAGTTTGGGGTGGTCTCAGGGGCCTCAAGGGCACTGGGTGGGGCGTACTCACCCGCGGCTCACAATGAGACGCGGCGACTCGAGGTTGCCATGGTAGGCAGCCCAGAGAGTGGGGGTCATGCCATCCTCGTCGGGGGCATTCAGCTCCTTTCGGGTGGCCTCCTTGAGGAGCTCCAGGTAGCCATCCCGGGCTGCCCGGTGGTACTGGTCGTTCATGGCGCCCGAAGTGGACGGGGCGGGCGGGGGACACGGAGAAAGGCCCCCCGCAGGGGAGGGCGGCGGTATTAGGGCTGAGGCATGAGGTTGGAGGACGGGGCCGGGCAGGGGCCGGGGCCGCCAGCCCCCGCTGCCGCAGACGGAGGGTGCGGAGCGCCAGAGCCGCGACTACCAAGACATCTGAAACGCTCACCCGGGGGCGGGGGCGGAGGGGGCGGGGGACGAAATCTCCCGCTGTCCAGGGAGCCGCCCCCGGTCTTCCCCTGGGTCCTAAACACCCTGCATGCACCTCAATACACGAGGGTGACCCACGCAAGGCCCTGTCCTCCTCTTCAAAAGTGCCCACCCCGGGGCCGCGCACTGTGACGCCCAGTCCGGGGACAGTCAGAGATCTGTCCTCACTAGAGCCTGGGGCGCTGTGGCTCCGTATTTCTCCACCTGTCAGTGGAACGAACCGAGAGCTGGGGAGGGGTGCCGGAGGGCGGGGTGGGGGAGCCGTCCTGAGCCCCAGGACAGTGGACCTAAGAAGGGGCACCGTGACCGACCGCGGTTCGGTCAGCGAGTGGGACGGGCCAGGCCGCCGCCGCCTGAACGGAGTCCCTCGACCGCACTCCAGCAGGGGGCGCTGGAGGACTGGCAGCGGCTCCGCGTGCCGCGTGGAACTTCGCACCCAAGCCCCGGAGTCCAACGGAGCGCGGGCCGGCGGCGGGGGCGGGCAGGGCGGTGGGATAGAGGAAAGGGGAGCTTGGATCACTGCGAGGACCGTGGGGGAGAGGGGAACTGGGGTTGCCATCCCAGGCAGGAGCACAGGAGCACAGGATTCAGGGTGCGCCGCGGCTGGAGGGCGTCAGGGTGCCCGCAGGCTTTTTGGACGTCTCTTGAGCTTAGCTCTCGGGGCTCTGGGCGCCTGGAATGCTGCGCGCCAGGGCGCGGTGGGCACCAGGGGCGGGGTGCCCTCTAGGTGCCGCAGTGCGGGGCCGCGCCCGAGCCTGGCCGCACCGGGGTGACGGAGTGGGGTCGCCTCTCAAAGGGTAAATATGAATCTTGCCTTATCTGGCTCCAGCGGGCTCTTCCCTAAATTCACCTTGGAGAAAGATGGATCATGTGAGCGGGACTGAGAGCTTTATGGAGCCAAACTCCCGCAGCTGTAAATCACCCTGTCCTCCTGGGTATAAAGCGCCTGTCCATCTCGGCGTGGGAGAGAGGAGACGCTCGCCGTCCCCTGACCCCCAGCTCAGCGCCGGCTCCAAGCCCAGCCAGGTGGGTGCCCCGGGCCGGAGGGCAGTCGGACTTGGGGAGTGGGGACCTTGGAGGGGTCCAACCGGGTGCTGCCGCTTCTCCTTTCTTCCCATCCAGCGAGAGGGGCAGGTTCCGCATTTTCTCTTCCCCTTTCCCAGCGCTTCCTCCAGCACCCGAAGCCCCAACCCTGCGGGTCAGGAACTCCCTAGTCCCCAAGTCTAGGGATGAGATGGGGGAAGGAGAGCCGTCAGGGTTGACCTGGAGTTTTGTCCGCTCCTCCCCTACAGTGATCCCTCTAGCCTTCTCCAGTCGCCTCCGCCATGTCCGAGGAGCTGGCCCAGGGCCCCAAGGAGAGCCCCCCGGCGCCGCGTGCGGGCCCCAGGGAGGTGTGGAAGAAGGGTGGCCGCCTGCTGTCGGTGCTGCTGGCGGTGAACGTGCTGCTCCTCGCCTGCACGCTCATCAGCGGCGGAGCCTTCAACAAGGTGGCCGTGTACGACACCGACGTGTTCGCGCTGCTCACTGCGATGATGCTGCTGGCAACGCTCTGGATCCTCTTCTACCTCCTCCGAACCGTGCGCTGCCCCTGCGCGGTACCCTACCGGGACGCGCACGCTGGCCCCATCTGGCTCCGAGGTGCCAGGGGAGGTGGGGGCGAGGTAGGGTGGG
Task1_train_25521
The following genetic variant occurs in HID1 (HID1 domain containing) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Developmental and epileptic encephalopathy 105 with hypopituitarism
TCTAGAACGTCAAGCTGCCATGTCACTAGAGGTGTATTTTGGGACCCAACCCTGGGGGCACACCCAGACTGAAGTTCCATGCTGATCTGAACACTTCCTTGTCTTGTGTCATTTTCCCTCACTAGGCTGAGGGCTCCACAGGGCAGGGACCAGGGCTGTCTTGGTCACAAGTGTGTTCTCGGAACCAGCTCAGTTAAGATTTGTGAGATGGAGCCAGAGAGTGAACCAGGAGGGGAAGGGACAGTCCTGACCCCAAAGCTCACAGCCCAGCTAGAGGCCTCTACCACCGCACACTACCCACCCTGCAGTCTAAACCAGAACACAGACAGACCAGCCACCCCTAGCCACAACCATCCTCTCCAAAAGATGTTCACACTGAAGGCATTTTGCCCCAGCCCATGGCCACCTGCCTTGCTAGGTCCTGAACCCCAGGGAGCCTGGCTCCTTCTGCTTCCTCTCCCCAGCAGCTGTGTGCAGTCCTTGCTGGGTGGGGGTAGGGGCTGGACAGGGAGGACAAAGGCAGAAAGGGTGGGGCCTCCACATCCCCATACACTGTGACTCCAAATGTCCAAACCTGCACTGCCCAACACAGTGGACATCAGCCACGTGTGGCCATTTCGTGCTTGAAACACAGCTAGTCCTAACACGTGTGCTGCACATATGAAACACACAAGAGGCCAGACACAGTGGCTCACGCCTGTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCATTTGAGCTCAGGAGTTCAGGACAAGCCTGGGAAACATAGTGAGATCCCGTCACTATAATTAGAAATAAAATGAAATATGGCCGGGTGTGGTGGTTCACACCTGTAACCCCAGCGCTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGGCCAGGACTTCAAGACCAGCCTGGCCAACATGGCAAAACTCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTAGCCAGTTGTGGTGGCACATGCTGTGATCCCAGCTACTTGGGAGGCTGAGGCATGAGGATCACTTAACCTGGGAGGTTGCAGTGAATGGAGATTGTGCCACTGCACTCTAGCCTGAGCAACAGAGAGTGAGACTCTGTCTTAAAAATAAAAAATAAAATAAAATAAAATAAATAAATAAATAAAGTAAAAATGTTATCGGACTACCAGTGGCTCCCATAAACTGGGCTAACCTCCTTCAGATGTCAAAAAAAATTGTTAAATTTTTTTTTTTTAAAAAAAGGCCAGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCATATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGCAAAACCCCGTCTCTACTAAAGATACAAAAATTAGCCAGGTGTGGTGGCACACGCCTGTAATCCCACCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCCAAGGGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCGACAAGACTGAGTGTGAGAAGGGAATATTAAATATCTCATTAGTAATTTTCATATTGGCTACATGTTGAGATGATGATAGATAAAACATATTATTCAATTGTTGTCACCCTTTTTTTTTAATGTGGCTACTATGAAGGGTACACAAGCTTGCGTTCTTTCTGTGGGCTGGAGGGGCTTGAAACCTGGAGCAAGTGGCAGGTTGGCCTGTGGCCTGACACCACCTGGTGGTGAGCGCGGGGAGTGCAAGCTCCGGGCCCCTACCGTTGACCACGATGGTGAGCAGGCAGTCGAAGAGGGGCTGCAACCGCTGGTGCCCGCTGGTGATGATCTTGTGGAACACCTGTGCCAGGAGGGACAGAGGCACCGTGGGGTCCCCGCTGCCTCCAGACTCAGCCAAGAGGACACCACCCCTGCACCTCCTGGGCCCGGCCGCACGAGCCCCCTCACCACAATGAGCAGGTCGGCGTGGGTCCCTGTGAAGACTGGGATGTCCATGGGCACGCGGATTGAGTAGGGTTTGTTCAGCCGCACCCCGAAGTTCCGCTCCCCGCTCAGAAGCAGCAAGATGAAGACACCAATGTGCATCAGGCCCACCCGAGCTGCGGCAGGTGGCGTGGGAGGGGTCACTCGGGTGGGAGGGGGAAGGAGGGGCCCAGGCAGTGACCATTTTGGAGGCCTCCCTCCTAGGAGGTCAGAGTGCCAGGCCTGAGCTCCTGGGAGTCAGGGCAGATAGCCAGCCCTCCACCTCGCCGCCAGGAAAGCCCCCAGCATCCCACCCCCACCCTGGTCTTACACTGATCGGCCCGGGCATCGTTGAGGAAGAAGAGGATGGGGACAAGGATGTCTAGGACGTCGCTGCTCTTCAGCACGAAGAAGAGGAATTTCTAGGGGTGCGGGGAGGGGCCAAGTGGGCTGAGTTCAAGGGAGGGGCAGCTCTGCCCCACCCCCCTCAGTCTGACACTGTCCCTGCCCCCGGGTTATTGGGGCAGCTGCTCTCCATCTCCCTGCAGGGCCCCTCGAGGCTGGCCCACCTTGTTGAAGTCGCAGAGCTTCCAGAAGAGAACTAGCAGCTCCTGGTGGAACTGGATCTTCTTGGTGGAGTTAGGCAGGTAGGTCTGGAGCAGGGGGTTGGACAGCAGCCGGGCTATACCCTTGAGGATGAACTGGAAGTCCTGGGGGCGAGGGCAGAGCAGGGGGCCTGTCCAGCCCAATCCCTGCAGCTCCAGTTTCCCAGCCCAGGCCCCCAACAAATCCCCCCCTCCATCCCCCAGAGCCAGATCCCACCTCCAGAGCCAGAGGGCCCAGATGCTATCACCCATAGCTGTCCTGGGGCGATGCCTCAGGAAGCGGAGTCCCTCATAGCTGTGGACAGCCCTGGCCCCTCCACTAGACTGCAGACTCTCTGTCCTTGGGCTGTGCGCCCCTTGAGCAAGGCTGCTGCTCTCAGTGAACTCCCACACATGCACACCCTCAACCTTGTCCCTGCCCACCTTGGACTCATGGTTGGCAGGTTCCATCCTTCTACCCCTCCCCAAAATACTCCCCCATCACCCCATCACAACTCGAGGAGCATTCCACTGTTCTGTCATTTACTGAGGCCTGCCACTAGCTGGGGTGAGAAGGCAGCTAGGGTCCTGTGTTTTAGCTGCAGAAGTTAGAACTCTGGGAGTTCAAGCACCTTCCCACCAAGATCACAAGACACATGAACTGGGACTGCTTGGCCTGAAGCCCTTGTCCACTGTCATTCCCCTTTTGTCCCCACCACCTCTGAAATGACATCAGCCACCTCCTCCTAGAGGCCTTCCCAGTTACCTCTACCCAGGTGAGGCCATCAGCCCTTCCTGCATCTTGAAACCCTCACAGTCCTGCCACTATTTCACCTAGGGTGGCCCCAGCCCACAGAGAGCATGGTTCCTTCATGGAGGGGTCAGGATCCCCCATATCCCTGTCTCACTTGCATCCCCCTGCACCCTGCAAAGCCACTGTGGGGACTGGACTTGCCTCCTCACGATGGATGCGGGACAGGTAGTTCACAAACAGGTTCTCAGGGCCTGGAGGCTGCCAAGAGGAGAAGCCCCTGGTGAGCAGGCGTCCTCCCCACAACCCGTGGCCCCGGCAGCTGTCCCTTCCATGCTCCCATCCTTACATCGGCATCATCCATGGCGGTGCCAGTGGTGGTGCCGTCCACAGTGGGGCTGGCACTGCTGGCACTGTCGTGGTCCAAAGTGACAATGAGCACCTGGGCAGCCTCCTCCACCAGGGGTTCCCGGTAGTCAGAGAAGAGCAGGTGGTTGTAGGGGATCCCGTAGCCCACAGGGTCATAGGCACACACGGTGTTGAGGAGGGAGGTGAAGAGGGGCAGGGCATGTCTGCAGCAGGAGAGGGACAAGGCTGCAGAGGCTGCACTGGGGCCCAGCCCCCTGGCCACACCTCTCTGGCCACGTGGGAAGGTCAGCCTCATTCAACAAGCATTTTAGCACCACGTCAGGGAGTGGCTTGGAAAGAGTGGGTGTGGGAAGCCCAGAGCCATGATTAGGACACATTCATACCCCTTAGGGTCTTAAGGGGCAGATACCCTCCCTTGGGTCCT
TCTAGAACGTCAAGCTGCCATGTCACTAGAGGTGTATTTTGGGACCCAACCCTGGGGGCACACCCAGACTGAAGTTCCATGCTGATCTGAACACTTCCTTGTCTTGTGTCATTTTCCCTCACTAGGCTGAGGGCTCCACAGGGCAGGGACCAGGGCTGTCTTGGTCACAAGTGTGTTCTCGGAACCAGCTCAGTTAAGATTTGTGAGATGGAGCCAGAGAGTGAACCAGGAGGGGAAGGGACAGTCCTGACCCCAAAGCTCACAGCCCAGCTAGAGGCCTCTACCACCGCACACTACCCACCCTGCAGTCTAAACCAGAACACAGACAGACCAGCCACCCCTAGCCACAACCATCCTCTCCAAAAGATGTTCACACTGAAGGCATTTTGCCCCAGCCCATGGCCACCTGCCTTGCTAGGTCCTGAACCCCAGGGAGCCTGGCTCCTTCTGCTTCCTCTCCCCAGCAGCTGTGTGCAGTCCTTGCTGGGTGGGGGTAGGGGCTGGACAGGGAGGACAAAGGCAGAAAGGGTGGGGCCTCCACATCCCCATACACTGTGACTCCAAATGTCCAAACCTGCACTGCCCAACACAGTGGACATCAGCCACGTGTGGCCATTTCGTGCTTGAAACACAGCTAGTCCTAACACGTGTGCTGCACATATGAAACACACAAGAGGCCAGACACAGTGGCTCACGCCTGTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCATTTGAGCTCAGGAGTTCAGGACAAGCCTGGGAAACATAGTGAGATCCCGTCACTATAATTAGAAATAAAATGAAATATGGCCGGGTGTGGTGGTTCACACCTGTAACCCCAGCGCTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGGCCAGGACTTCAAGACCAGCCTGGCCAACATGGCAAAACTCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAATTAGCCAGTTGTGGTGGCACATGCTGTGATCCCAGCTACTTGGGAGGCTGAGGCATGAGGATCACTTAACCTGGGAGGTTGCAGTGAATGGAGATTGTGCCACTGCACTCTAGCCTGAGCAACAGAGAGTGAGACTCTGTCTTAAAAATAAAAAATAAAATAAAATAAAATAAATAAATAAATAAAGTAAAAATGTTATCGGACTACCAGTGGCTCCCATAAACTGGGCTAACCTCCTTCAGATGTCAAAAAAAATTGTTAAATTTTTTTTTTTTAAAAAAAGGCCAGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCATATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGACAACATGGCAAAACCCCGTCTCTACTAAAGATACAAAAATTAGCCAGGTGTGGTGGCACACGCCTGTAATCCCACCTACTCAGGAGGCTGAGGCATGAGAATTGCTTGAACCCAAGGGGCGGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCCAGCCTGGGCGACAAGACTGAGTGTGAGAAGGGAATATTAAATATCTCATTAGTAATTTTCATATTGGCTACATGTTGAGATGATGATAGATAAAACATATTATTCAATTGTTGTCACCCTTTTTTTTTAATGTGGCTACTATGAAGGGTACACAAGCTTGCGTTCTTTCTGTGGGCTGGAGGGGCTTGAAACCTGGAGCAAGTGGCAGGTTGGCCTGTGGCCTGACACCACCTGGTGGTGAGCGCGGGGAGTGCAAGCTCCGGGCCCCTACCGTTGACCACGATGGTGAGCAGGCAGTCGAAGAGGGGCTGCAACCGCTGGTGCCCGCTGGTGATGATCTTGTGGAACACCTGTGCCAGGAGGGACAGAGGCACCGTGGGGTCCCCGCTGCCTCCAGACTCAGCCAAGAGGACACCACCCCTGCACCTCCTGGGCCCGGCCGCACGAGCCCCCTCACCACAATGAGCAGGTCGGCGTGGGTCCCTGTGAAGACTGGGATGTCCATGGGCACGCGGATTGAGTAGGGTTTGTTCAGCCGCACCCCGAAGTTCCACTCCCCGCTCAGAAGCAGCAAGATGAAGACACCAATGTGCATCAGGCCCACCCGAGCTGCGGCAGGTGGCGTGGGAGGGGTCACTCGGGTGGGAGGGGGAAGGAGGGGCCCAGGCAGTGACCATTTTGGAGGCCTCCCTCCTAGGAGGTCAGAGTGCCAGGCCTGAGCTCCTGGGAGTCAGGGCAGATAGCCAGCCCTCCACCTCGCCGCCAGGAAAGCCCCCAGCATCCCACCCCCACCCTGGTCTTACACTGATCGGCCCGGGCATCGTTGAGGAAGAAGAGGATGGGGACAAGGATGTCTAGGACGTCGCTGCTCTTCAGCACGAAGAAGAGGAATTTCTAGGGGTGCGGGGAGGGGCCAAGTGGGCTGAGTTCAAGGGAGGGGCAGCTCTGCCCCACCCCCCTCAGTCTGACACTGTCCCTGCCCCCGGGTTATTGGGGCAGCTGCTCTCCATCTCCCTGCAGGGCCCCTCGAGGCTGGCCCACCTTGTTGAAGTCGCAGAGCTTCCAGAAGAGAACTAGCAGCTCCTGGTGGAACTGGATCTTCTTGGTGGAGTTAGGCAGGTAGGTCTGGAGCAGGGGGTTGGACAGCAGCCGGGCTATACCCTTGAGGATGAACTGGAAGTCCTGGGGGCGAGGGCAGAGCAGGGGGCCTGTCCAGCCCAATCCCTGCAGCTCCAGTTTCCCAGCCCAGGCCCCCAACAAATCCCCCCCTCCATCCCCCAGAGCCAGATCCCACCTCCAGAGCCAGAGGGCCCAGATGCTATCACCCATAGCTGTCCTGGGGCGATGCCTCAGGAAGCGGAGTCCCTCATAGCTGTGGACAGCCCTGGCCCCTCCACTAGACTGCAGACTCTCTGTCCTTGGGCTGTGCGCCCCTTGAGCAAGGCTGCTGCTCTCAGTGAACTCCCACACATGCACACCCTCAACCTTGTCCCTGCCCACCTTGGACTCATGGTTGGCAGGTTCCATCCTTCTACCCCTCCCCAAAATACTCCCCCATCACCCCATCACAACTCGAGGAGCATTCCACTGTTCTGTCATTTACTGAGGCCTGCCACTAGCTGGGGTGAGAAGGCAGCTAGGGTCCTGTGTTTTAGCTGCAGAAGTTAGAACTCTGGGAGTTCAAGCACCTTCCCACCAAGATCACAAGACACATGAACTGGGACTGCTTGGCCTGAAGCCCTTGTCCACTGTCATTCCCCTTTTGTCCCCACCACCTCTGAAATGACATCAGCCACCTCCTCCTAGAGGCCTTCCCAGTTACCTCTACCCAGGTGAGGCCATCAGCCCTTCCTGCATCTTGAAACCCTCACAGTCCTGCCACTATTTCACCTAGGGTGGCCCCAGCCCACAGAGAGCATGGTTCCTTCATGGAGGGGTCAGGATCCCCCATATCCCTGTCTCACTTGCATCCCCCTGCACCCTGCAAAGCCACTGTGGGGACTGGACTTGCCTCCTCACGATGGATGCGGGACAGGTAGTTCACAAACAGGTTCTCAGGGCCTGGAGGCTGCCAAGAGGAGAAGCCCCTGGTGAGCAGGCGTCCTCCCCACAACCCGTGGCCCCGGCAGCTGTCCCTTCCATGCTCCCATCCTTACATCGGCATCATCCATGGCGGTGCCAGTGGTGGTGCCGTCCACAGTGGGGCTGGCACTGCTGGCACTGTCGTGGTCCAAAGTGACAATGAGCACCTGGGCAGCCTCCTCCACCAGGGGTTCCCGGTAGTCAGAGAAGAGCAGGTGGTTGTAGGGGATCCCGTAGCCCACAGGGTCATAGGCACACACGGTGTTGAGGAGGGAGGTGAAGAGGGGCAGGGCATGTCTGCAGCAGGAGAGGGACAAGGCTGCAGAGGCTGCACTGGGGCCCAGCCCCCTGGCCACACCTCTCTGGCCACGTGGGAAGGTCAGCCTCATTCAACAAGCATTTTAGCACCACGTCAGGGAGTGGCTTGGAAAGAGTGGGTGTGGGAAGCCCAGAGCCATGATTAGGACACATTCATACCCCTTAGGGTCTTAAGGGGCAGATACCCTCCCTTGGGTCCT
Task1_train_25522
A sequence alteration has been identified in HID1 (HID1 domain containing) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Developmental and epileptic encephalopathy 105 with hypopituitarism
GGCAGGGCATGTCTGCAGCAGGAGAGGGACAAGGCTGCAGAGGCTGCACTGGGGCCCAGCCCCCTGGCCACACCTCTCTGGCCACGTGGGAAGGTCAGCCTCATTCAACAAGCATTTTAGCACCACGTCAGGGAGTGGCTTGGAAAGAGTGGGTGTGGGAAGCCCAGAGCCATGATTAGGACACATTCATACCCCTTAGGGTCTTAAGGGGCAGATACCCTCCCTTGGGTCCTCAGAGATGGGAATGGAGGCCTGTGGAGAAGGTGGGCTTCCCCTCAGGGAGCAGAGCCCACGCTCAGCCAACCAGCTCCCAAGCCACAGAATGACTCCACTCAGACTCAAGAGATGTCAGGGTTCAAGCTGCTCAGCTTACAGATGAGGAAGCTGAGACCCAGAGAGGTTAAGTGAGGGACAAAGGGTGGCAGTTTGCCTGATAAGGCTGGTGAGAAAGAAAACTCTGGCCAGCCTCGGACTGTGGCTGGTGGAGGGGGTCGCCTGGCTCCCTTCTCTTCTGGAGTAGGGTGGAAGGTTGAACAGAAGGCTAGGAAACCTGAAGAATAAGGCGTGTCATGTAGGGACCAGAGTCTGGAAGGCGGAGGTCGACCGCCACCTGCCGGGCACAGACCCTATGCAGCCAACACAGCTCCCAGTGGGAGCTACCTGCTCAAATACTCAACTCTGCCACGTGGCACGTGTGACACCCTCCCCCCACCCCGTGCTCACGTGTCCCCCACAGTCCATGAGTGCCCCATGTGGGCTGGGCCTCCCTGCCCTTCGAGGTATTTGTCACACACTCCCCGACCCGGTCTCTAAGCTGCAGAGTCCCACACAGCAGCCTCAAGCCACAAGGAGCTGTCGAGCCCTTGGAATGTGGCTGATCGGAACCAAGACAAATACACACTGGATTTTGAAAACTTAGTATGAAAAGGGGGATGTCAAACAGCTCAGTAATGTTGTATACTGATTCCATGTTAAATGCTAAAGTTTGGGGTATATTGGGTTATATGAAATATATTATTAATTATTGTATTTATTTATTTTTTTTTTTGGAAACAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCAAGCCTGGCTAATTTTTGTATTTTTAGTAGAGATACGGTTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTAATCTGCCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAATTTTACTTTTTAACTTTTTTAATTTTAAAATTGCACTCGTGGTTTGCATTCTATTTCTACTGGACAGGCGGCTCTTGATGGAGGACCCAGGGACGGATTACTGAGGGGCCCCCAGATTCTGTCCTGTCGAGGACTCCAAGGAGAGACGGGGCTAGTGTGAGGTGTGGCTGGTAAGTTAAAGTTCATCACCACCAGGGGGCAGCACCTCCCCTCAAACGAGACCCAGAGCTGGCGAATGGACTCAGCTCTGGATTGCCTGGAATAAGAGGGAAGAGAGCGCAGAAAGGCCAAGGGCCCTTCACCTGTTCTCCGTGGAACAAAAGAACTGAACCCATGGGTTGGTGCTGCCACTTTCCGGAGCTGGGGGCAGGTACATGGCCTCGGAGAAGCATGTCAGCAGCAGTTTCAGCAGCTCCATCCTTGTAGGAGGAAGGGGGAGGGCACCTTAGGATCCCAGTCCCCTCTTGGAGGTTCTGCCCACCCAGCCCAGCGCCCCAGCCCAGGTCCATGGAAGGAAGTTACTCCCGTTGACCCCTGTAAGGTCAAGGTCGGGTCATAGGTGAGGACGGTCTTCTGGGAAGACCCCATGGGCTTTCTGAGCTGTGCGGGGGCCCGGCCCGGGGTCCAGCTGCATTGAGGGCTCCGGGCCTGGGCGAAGCTCACCGGTTCATATCGTGGATGTAGTTAGGCTGGGGGGAGTGAGCGAAGCCCACACCAGCCTCCCAGATGTATTCACAGCTGTCCAGGGAGTGGACGTCCTCTGCCGAGTCCTGGGGACAGGCCAGGAAGAAGCCGGGTTAGGGGGTCGAGAGGTGAACAGCAGCCTGGGTCAGAACCTGGCCACCTCGAGCCTCACACAGTCCCAGGGGCAGAGACCGCCAGTTCTCCTAAAGACAGGTCCTCAAAATGGCCTGGCCCTCATGCACAAGAGCAGGAGTGAATATTCTTAGGCCTCTTGAAAGCTCATTTTTCTTCCATCTCAGACTGGTTCTTTCACTTGCTCAGTCCAGTTTGGGACAGGGAGAAAGGGAGGGAGGGGCAGGGGATTGGGTGCCCCGGGTTTGGGGGTGGGCAGAGAAGACTCAAGGTGAAGTCCATGCCACCACAGGAAGCAAGAGGGCCAGCCCTCCTGTGTCTGAGCCCCACACCCCTGGGCAAGCAAAGACAATGGGTGTCTGTGCCCAGCCATCCGAACGCAGCGGGCAGGGCCAGCCCCAGCTGGCTTCCCTCAGCTGTACCAGCTGCCACCCAGGCCTACATGTGCCAGGCAGCTCAGCTCTCCTGGAGCCCCCCGGCCCCCAGTGCAATCCGCCCAAGGGAACTTCAACTGGCCCGGCCCCAACCCAGGACCAGAGCCTACTCCGCCTGGGGGTGGGGGGCTGGGGGACACTCACCACAGTGCTCCTCCGGTGGCTCTGAACCGTGAAGTCCGGGCAGAAGAGCAGGTCAGCAATGGCCAGGAGCAGGGACTCGGCCAGGGGCCTGGCATGCTCATCATCCTCTTCTCCCTGCTGGGGACACAGCACCCACAGGCTGCCTCAGTGATAGCTGGCCAGGAAGAGGTGGCCCAGGGCTTGGGGGTGGTGGAGGACAGGGGCTGAGCCCAGGCGGGCACCCATGGGCAGAGGAATGAAGGGACAGGAAGTGGACTCCTGGTTGCCCCAAACCTCCCAAGGCAGAAGTGGGGCACAGCAGGGAGCCGGGCCGGGAACAGCGAGGGAACCTCCCCTACTGACTGGAGGGGGCCGGGCGGTGACCCCAACATCAAGAGTCTCAGCCCTGCTAGGAATCACTGTGTTGCATCCCTCAGCACCTCACCTGGACATAAACCCAGGGCAGGTGGTGTGGGGGAGAGAGGACAGTGTGGTCCCTCTCCGGCCCTCAGAGGGCCCAGCTCCTCTGCCTCCACCTCTGCCCAGTGACCCCTGGCTCTCAGCTTCTCTCCATACCCTACTTCCTCCAGACTGTGGGCACAGAAACCCCCATGGGAGGGGAACTGAGGGCCCAAGGAGGTGGCATTGAACACCATCCCTCAGCAGCACCCACTGGCCCCACCCCTGTACTTCCCAAATCCCAGAAGAGGCTTGGAGGAGCATGGCCGGCCCTAAAGGGCGCTCTCCCTGTGACGCCAACTCTGCCTCCCACCCAGCCCTGGCCAGGCCCACAGACCCCTCCTCGCCCTGCCCCGGGCACTGTGGACCAGAAGAAGCCCCTCCAGTCGGGGTCCTCAAAGATGTAGGGCAGCACGCGGGTGAGCAGCCGGCTGCAGTTCAGGACGATCTGCTTCTCCTTCTCCGAGTGGCAGCCACTCTCAGCTCCCTGCACCAGCTTCTCAACGGCCTGTGGGGGCAGGCAGGAGCAGAGGGCAGGCTGGAAGGTGGGGAAAGGACCCTGGCACTTGGGGTCAGGGTGGGCACCCAGGCTGCAGAGGAGGGTCAGGGGGGGCACCCAGGCTGCAGAGGAGAGACAGTGGGGCCACAGGCAGAGGAGCCACCTGGAGTTGGGGTCGGCCAGCCTTGGGGGACTGGGACACAGGCCAGAGCAGCTTGGAGCATCAGGACAGCCAGGGCCCAGCTAGCCACTGGATGGCTGAGGCCTTGCTAAGTGAGTCTCCCAGCCTCAGTTTCCCTATCTGTAAACTGGCGACCCTGGCAGTACCCACCCCACAGAGGGAGCTAAATGAACTGATCTGTGGAAGGTGCTCAGTCAGATGTGGCCTGGAGGACTCCCCCATAAATGACGGCTGCCGTGGTCCCAACGCC
GGCAGGGCATGTCTGCAGCAGGAGAGGGACAAGGCTGCAGAGGCTGCACTGGGGCCCAGCCCCCTGGCCACACCTCTCTGGCCACGTGGGAAGGTCAGCCTCATTCAACAAGCATTTTAGCACCACGTCAGGGAGTGGCTTGGAAAGAGTGGGTGTGGGAAGCCCAGAGCCATGATTAGGACACATTCATACCCCTTAGGGTCTTAAGGGGCAGATACCCTCCCTTGGGTCCTCAGAGATGGGAATGGAGGCCTGTGGAGAAGGTGGGCTTCCCCTCAGGGAGCAGAGCCCACGCTCAGCCAACCAGCTCCCAAGCCACAGAATGACTCCACTCAGACTCAAGAGATGTCAGGGTTCAAGCTGCTCAGCTTACAGATGAGGAAGCTGAGACCCAGAGAGGTTAAGTGAGGGACAAAGGGTGGCAGTTTGCCTGATAAGGCTGGTGAGAAAGAAAACTCTGGCCAGCCTCGGACTGTGGCTGGTGGAGGGGGTCGCCTGGCTCCCTTCTCTTCTGGAGTAGGGTGGAAGGTTGAACAGAAGGCTAGGAAACCTGAAGAATAAGGCGTGTCATGTAGGGACCAGAGTCTGGAAGGCGGAGGTCGACCGCCACCTGCCGGGCACAGACCCTATGCAGCCAACACAGCTCCCAGTGGGAGCTACCTGCTCAAATACTCAACTCTGCCACGTGGCACGTGTGACACCCTCCCCCCACCCCGTGCTCACGTGTCCCCCACAGTCCATGAGTGCCCCATGTGGGCTGGGCCTCCCTGCCCTTCGAGGTATTTGTCACACACTCCCCGACCCGGTCTCTAAGCTGCAGAGTCCCACACAGCAGCCTCAAGCCACAAGGAGCTGTCGAGCCCTTGGAATGTGGCTGATCGGAACCAAGACAAATACACACTGGATTTTGAAAACTTAGTATGAAAAGGGGGATGTCAAACAGCTCAGTAATGTTGTATACTGATTCCATGTTAAATGCTAAAGTTTGGGGTATATTGGGTTATATGAAATATATTATTAATTATTGTATTTATTTATTTTTTTTTTTGGAAACAGAGTCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCAAGCCTGGCTAATTTTTGTATTTTTAGTAGAGATACGGTTTCACCATGTTGGCCAGGCTGGTCTGAAACTCCTGACCTCAGGTAATCTGCCCACGTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAATTTTACTTTTTAACTTTTTTAATTTTAAAATTGCACTCGTGGTTTGCATTCTATTTCTACTGGACAGGCGGCTCTTGATGGAGGACCCAGGGACGGATTACTGAGGGGCCCCCAGATTCTGTCCTGTCGAGGACTCCAAGGAGAGACGGGGCTAGTGTGAGGTGTGGCTGGTAAGTTAAAGTTCATCACCACCAGGGGGCAGCACCTCCCCTCAAACGAGACCCAGAGCTGGCGAATGGACTCAGCTCTGGATTGCCTGGAATAAGAGGGAAGAGAGCGCAGAAAGGCCAAGGGCCCTTCACCTGTTCTCCGTGGAACAAAAGAACTGAACCCATGGGTTGGTGCTGCCACTTTCCGGAGCTGGGGGCAGGTACATGGCCTCGGAGAAGCATGTCAGCAGCAGTTTCAGCAGCTCCATCCTTGTAGGAGGAAGGGGGAGGGCACCTTAGGATCCCAGTCCCCTCTTGGAGGTTCTGCCCACCCAGCCCAGCGCCCCAGCCCAGGTCCATGGAAGGAAGTTACTCCCGTTGACCCCTGTAAGGTCAAGGTCGGGTCATAGGTGAGGACGGTCTTCTGGGAAGACCCCATGGGCTTTCTGAGCTGTGCGGGGGCCCGGCCCGGGGTCCAGCTGCATTGAGGGCTCCGGGCCTGGGCGAAGCTCACCGGTTCATATCGTGGATGTAGTTAGGCTGGGGGGAGTGAGCGAAGCCCACATCAGCCTCCCAGATGTATTCACAGCTGTCCAGGGAGTGGACGTCCTCTGCCGAGTCCTGGGGACAGGCCAGGAAGAAGCCGGGTTAGGGGGTCGAGAGGTGAACAGCAGCCTGGGTCAGAACCTGGCCACCTCGAGCCTCACACAGTCCCAGGGGCAGAGACCGCCAGTTCTCCTAAAGACAGGTCCTCAAAATGGCCTGGCCCTCATGCACAAGAGCAGGAGTGAATATTCTTAGGCCTCTTGAAAGCTCATTTTTCTTCCATCTCAGACTGGTTCTTTCACTTGCTCAGTCCAGTTTGGGACAGGGAGAAAGGGAGGGAGGGGCAGGGGATTGGGTGCCCCGGGTTTGGGGGTGGGCAGAGAAGACTCAAGGTGAAGTCCATGCCACCACAGGAAGCAAGAGGGCCAGCCCTCCTGTGTCTGAGCCCCACACCCCTGGGCAAGCAAAGACAATGGGTGTCTGTGCCCAGCCATCCGAACGCAGCGGGCAGGGCCAGCCCCAGCTGGCTTCCCTCAGCTGTACCAGCTGCCACCCAGGCCTACATGTGCCAGGCAGCTCAGCTCTCCTGGAGCCCCCCGGCCCCCAGTGCAATCCGCCCAAGGGAACTTCAACTGGCCCGGCCCCAACCCAGGACCAGAGCCTACTCCGCCTGGGGGTGGGGGGCTGGGGGACACTCACCACAGTGCTCCTCCGGTGGCTCTGAACCGTGAAGTCCGGGCAGAAGAGCAGGTCAGCAATGGCCAGGAGCAGGGACTCGGCCAGGGGCCTGGCATGCTCATCATCCTCTTCTCCCTGCTGGGGACACAGCACCCACAGGCTGCCTCAGTGATAGCTGGCCAGGAAGAGGTGGCCCAGGGCTTGGGGGTGGTGGAGGACAGGGGCTGAGCCCAGGCGGGCACCCATGGGCAGAGGAATGAAGGGACAGGAAGTGGACTCCTGGTTGCCCCAAACCTCCCAAGGCAGAAGTGGGGCACAGCAGGGAGCCGGGCCGGGAACAGCGAGGGAACCTCCCCTACTGACTGGAGGGGGCCGGGCGGTGACCCCAACATCAAGAGTCTCAGCCCTGCTAGGAATCACTGTGTTGCATCCCTCAGCACCTCACCTGGACATAAACCCAGGGCAGGTGGTGTGGGGGAGAGAGGACAGTGTGGTCCCTCTCCGGCCCTCAGAGGGCCCAGCTCCTCTGCCTCCACCTCTGCCCAGTGACCCCTGGCTCTCAGCTTCTCTCCATACCCTACTTCCTCCAGACTGTGGGCACAGAAACCCCCATGGGAGGGGAACTGAGGGCCCAAGGAGGTGGCATTGAACACCATCCCTCAGCAGCACCCACTGGCCCCACCCCTGTACTTCCCAAATCCCAGAAGAGGCTTGGAGGAGCATGGCCGGCCCTAAAGGGCGCTCTCCCTGTGACGCCAACTCTGCCTCCCACCCAGCCCTGGCCAGGCCCACAGACCCCTCCTCGCCCTGCCCCGGGCACTGTGGACCAGAAGAAGCCCCTCCAGTCGGGGTCCTCAAAGATGTAGGGCAGCACGCGGGTGAGCAGCCGGCTGCAGTTCAGGACGATCTGCTTCTCCTTCTCCGAGTGGCAGCCACTCTCAGCTCCCTGCACCAGCTTCTCAACGGCCTGTGGGGGCAGGCAGGAGCAGAGGGCAGGCTGGAAGGTGGGGAAAGGACCCTGGCACTTGGGGTCAGGGTGGGCACCCAGGCTGCAGAGGAGGGTCAGGGGGGGCACCCAGGCTGCAGAGGAGAGACAGTGGGGCCACAGGCAGAGGAGCCACCTGGAGTTGGGGTCGGCCAGCCTTGGGGGACTGGGACACAGGCCAGAGCAGCTTGGAGCATCAGGACAGCCAGGGCCCAGCTAGCCACTGGATGGCTGAGGCCTTGCTAAGTGAGTCTCCCAGCCTCAGTTTCCCTATCTGTAAACTGGCGACCCTGGCAGTACCCACCCCACAGAGGGAGCTAAATGAACTGATCTGTGGAAGGTGCTCAGTCAGATGTGGCCTGGAGGACTCCCCCATAAATGACGGCTGCCGTGGTCCCAACGCC
Task1_train_25523
This variant affects the gene MIF4GD-DT, SLC25A19 (MIF4GD divergent transcript| solute carrier family 25 member 19) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
TCGATCTTGCGCGTGGCCCCGCACCCAGCCCTCCCCGGAGCTCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGCGAATGCCCCTGAAGTGGCGCGGACCCCACCGCCCGGCGTCTGCCCTGGGTGACAGGAGGGCACCTAGAAGTGGGGGAAGAACTGCCGCCGCTCCTGCCGCGCGACCGGGAGGAGCGCTGCCGGCGCTGCCCGCGTTCTCGCCTCCTTTTAAAAGAACCGCCAAAGTGGTCACCGAAAACGGAGGAGGAAGAGAACGCTCAGCTGCAGCAAAAGAAACCAATGGGCAGGAAAGATGAAGAGAAGAAACTTTAACGGAATTTCATAAAAAATGCATTCAGGCAGCTGCATCCTCGTGGCCCCCGCCGCAGCCTGGACCTTGGGAACCAGCAGCCCAGAGCCAGGAAGCCCCAGCATTCAGGGCCCAGACAGACCCCAAAATCCCAGACCAGAGGCAGGGAAGGATGGTGCGAGGAGGAGCCCAGGACCCACACGCCAGGGCCAGGGCCAGCGCCGGCTCCCAGTGGGTGCCTCTTTCCAAGGCTGGAGAGGGAGGCAGAATGGAGGGCTTCCCAGGTCGGAGCAACCCTACAGGCCGGGCAGATGGAGGGAAGGGTGGAGGTCATGTTCTGGAGACCTCCCCTCAGCCTGGAACTGGTTTCTCCTCTGCCTCTCCGCCTGTGGGTGTCCCTCTGCTCTGGTAACACCCCAGGCACCAGCTGTGCCCTCACCAGGCTACGTGCCCGCCCCTTCCTTCTGCCATCCCCATCAGTGGGCTGCTTCAGAGCCACGGCCCTTCTGGGGCTACAGGGGAGGATGCACCCGCAGCATGCTCTGCACTGAGGAGCAGGCAGTGGGCGCTGATGCCACCTGTCCTGCTGATAGCTCCTCACCCAGCAAGGCTGACCCAGCTCTGGGTGAAAGAGGAGTCAGTGAGGTAGACTGGGGAGAGGCTGCACCTTCACCCACGCCTGCCCACAGCATGGCCCATCCACTTCCTGCACGGGCGCTGGGATCTGCTTTCCATGGAGCCCCACGGCCATGACCAGCCCGGTCCTGGGAGAGGACAGCCTGGGTGGTGGTGTGTCTGCAGACACGAAGGTCTGGGCACGGGGCCCAGAAAGTGACTGGCTCAGCCTGGAGTCTCCCCCAGCACTAGAAGCAGAGCTGCCAAGGGCTGCCGCTATGGAGAACATGGGATTTGAGGAAGGCAGGAGTCCTTTCCCTCATACTTTGTGAGTAGGCAGATGTGCCAGGGGAGATGGAGTAAGATAAGGAATGTGTGTTTAGCTTTAATGTCTATTAAATAGGTTGGAAAAACAGGCCAAGTGTAGGGACCTGACTCCTGCAAAGGGCCTACCGCAGCCCTCTGCACTCAAGCAGCAGCCCCATCCAGACCAGGAGTGTGTTCTGTTCTCCTGGCAGGCAGGGCTGATAGGTGTAGGATGGCGTCTGTTTCCTTTGGAGTGTGGGCTGGTCAGAGGAGAAACAGCAACTTCCTGCTCCTTCTCACTGTGTCGTTGGCTCACCATAGACCACGTCCTGCATTCCCTCTGATTCTCTCATGGGGAGAGCCCTGGACCTTCTGGTGGTGTCCCAGCTGGGTGGGTTCAAGGCTGCTACCCCGCTTGGGGCAGCTGGCCTGCAGGGAAGGGCCAGACGGCACCTCTCAGTGGAGACTGAATCTTCCTTCCTTCAGGAGGCTGCCTCCAGGGAAGACCTGGGGTCCTTCCTGCACTCAGCGCTGGCTGGCTGTCCTGTTCATGCAGTGGAAGACATTACAGAAGAATTCATACGAGAAGAACATGAAGCCTGTGGAGAGGGCAGCCTTCAGCAAGCTGGGGGACAGGCCCTTGAAGAAGCCCAGGGCGCCTTCCTTTTGCAGCACCTGCTTGGCACAGTCCATGAGGCCCTTGTATCTCCGTACCTGGGGAGAGGAAAGGGATGAAAATATGGATGCCCGCTCTGCTCCCATCAACACAGCCCCTGGCACATCACAGATCTTAAGAAGTACTTGCTGGACAAAGAAATGAATGCAAAATAGCAAATTATTTTATTTTTTCGTTGAGGCAGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACAACACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGCAGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAATGTGCTGGGATTACAGGCATGGACAACCATGCCCAGCTCAAAATAGCAAATAAATTAATTTCATTCTTTCTACTGTAATTGGGTTAAGACTGAACAGATGACAGGCCTAGAAATCAGAAGCTGGACAGCGCTCCTTCCTGCCCAGGAAGAACGGCTGCCTGTGGCTCCAAAGGATCCAGCAATGGCTCCAGAACCTCTTCCCAGAGGCATCTCTGACCCTTCATCCCATCCCACCTGATCCCCCTTGGGCAGCAGATCTGAACCTGGCCCTCAGTAGCTCTCAGCCGGGCCTCCCTGCCTCCAGCCTCACCCTCTCCAGCTGACCTCACACACTGCTGCCAGACATTCATCCCCAGGCACAACCCTCCTCAAGCCTGGCTTCCCTCCAAAAGCTGCAGTAACTCCTAGTGACGACATCATGAGAAATCAAGTCCAAACCCCAAGATCTGCCGTTTAAGGCACTGCACCATTTGGCCTTGATTTCCCTCCCTGATCTGACCTCCACTGGTCCTCCCACGTGCCCTTCCCACCTCTGGCCAAACTGGATTACACTAGTCTTTGTTAGCAGTAAGGCCTCCCTCTGCCATCCTGGGCTCTCACCATCGGCTCCCTGTCCAAATTCAAACTGTCCCTTCATGCTGGGTGCAGTGGTGCATGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGAGGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCCAGGCAACAGAGCGATATCCCATTTAAAAAAAGAAAGAAAGAAAAGAAAACAAACTCTCCCTTCAGGACAAGTTGGTAAGTGGAAAAGGGAGGTTACAAACCTTGTATACAGTGTATCCGTATTTTTGTTAAAATGTACATGTGTATTTATGAAAAGAAATAAAACTACACTGAAAGGTTCCATGTGGTTATCTGTGGTAGTGAAATTACAAGGGATTTTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAAGATGGTGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCGAACTCCTGGGCTTAAGCAATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGAACTACAGGCACACACCACCATGCCCAGCTAATTTTTTAATTTTTATTTTGTAGAGACGGGGTCTTGCTATGTTGACCAGGCTGGTTTCAAGCTCCTGGCCTCAACTGATTTTCCCATTTTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGATCCACTGCAGCTGGCTTGGTCTTTCTTTCATCTATCTTAAATTTTCTAAAGTTTCCTACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCA
TCGATCTTGCGCGTGGCCCCGCACCCAGCCCTCCCCGGAGCTCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGCGAATGCCCCTGAAGTGGCGCGGACCCCACCGCCCGGCGTCTGCCCTGGGTGACAGGAGGGCACCTAGAAGTGGGGGAAGAACTGCCGCCGCTCCTGCCGCGCGACCGGGAGGAGCGCTGCCGGCGCTGCCCGCGTTCTCGCCTCCTTTTAAAAGAACCGCCAAAGTGGTCACCGAAAACGGAGGAGGAAGAGAACGCTCAGCTGCAGCAAAAGAAACCAATGGGCAGGAAAGATGAAGAGAAGAAACTTTAACGGAATTTCATAAAAAATGCATTCAGGCAGCTGCATCCTCGTGGCCCCCGCCGCAGCCTGGACCTTGGGAACCAGCAGCCCAGAGCCAGGAAGCCCCAGCATTCAGGGCCCAGACAGACCCCAAAATCCCAGACCAGAGGCAGGGAAGGATGGTGCGAGGAGGAGCCCAGGACCCACACGCCAGGGCCAGGGCCAGCGCCGGCTCCCAGTGGGTGCCTCTTTCCAAGGCTGGAGAGGGAGGCAGAATGGAGGGCTTCCCAGGTCGGAGCAACCCTACAGGCCGGGCAGATGGAGGGAAGGGTGGAGGTCATGTTCTGGAGACCTCCCCTCAGCCTGGAACTGGTTTCTCCTCTGCCTCTCCGCCTGTGGGTGTCCCTCTGCTCTGGTAACACCCCAGGCACCAGCTGTGCCCTCACCAGGCTACGTGCCCGCCCCTTCCTTCTGCCATCCCCATCAGTGGGCTGCTTCAGAGCCACGGCCCTTCTGGGGCTACAGGGGAGGATGCACCCGCAGCATGCTCTGCACTGAGGAGCAGGCAGTGGGCGCTGATGCCACCTGTCCTGCTGATAGCTCCTCACCCAGCAAGGCTGACCCAGCTCTGGGTGAAAGAGGAGTCAGTGAGGTAGACTGGGGAGAGGCTGCACCTTCACCCACGCCTGCCCACAGCATGGCCCATCCACTTCCTGCACGGGCGCTGGGATCTGCTTTCCATGGAGCCCCACGGCCATGACCAGCCCGGTCCTGGGAGAGGACAGCCTGGGTGGTGGTGTGTCTGCAGACACGAAGGTCTGGGCACGGGGCCCAGAAAGTGACTGGCTCAGCCTGGAGTCTCCCCCAGCACTAGAAGCAGAGCTGCCAAGGGCTGCCGCTATGGAGAACATGGGATTTGAGGAAGGCAGGAGTCCTTTCCCTCATACTTTGTGAGTAGGCAGATGTGCCAGGGGAGATGGAGTAAGATAAGGAATGTGTGTTTAGCTTTAATGTCTATTAAATAGGTTGGAAAAACAGGCCAAGTGTAGGGACCTGACTCCTGCAAAGGGCCTACCGCAGCCCTCTGCACTCAAGCAGCAGCCCCATCCAGACCAGGAGTGTGTTCTGTTCTCCTGGCAGGCAGGGCTGATAGGTGTAGGATGGCGTCTGTTTCCTTTGGAGTGTGGGCTGGTCAGAGGAGAAACAGCAACTTCCTGCTCCTTCTCACTGTGTCGTTGGCTCACCATAGACCACGTCCTGCATTCCCTCTGATTCTCTCATGGGGAGAGCCCTGGACCTTCTGGTGGTGTCCCAGCTGGGTGGGTTCAAGGCTGCTACCCCGCTTGGGGCAGCTGGCCTGCAGGGAAGGGCCAGACGGCACCTCTCAGTGGAGACTGAATCTTCCTTCCTTCAGGAGGCTGCCTCCAGGGAAGACCTGGGGTCCTTCCTGCACTCAGCGCTGGCTGGCTGTCCTGTTCATGCAGTGGAAGACATTACAGAAGAATTTATACGAGAAGAACATGAAGCCTGTGGAGAGGGCAGCCTTCAGCAAGCTGGGGGACAGGCCCTTGAAGAAGCCCAGGGCGCCTTCCTTTTGCAGCACCTGCTTGGCACAGTCCATGAGGCCCTTGTATCTCCGTACCTGGGGAGAGGAAAGGGATGAAAATATGGATGCCCGCTCTGCTCCCATCAACACAGCCCCTGGCACATCACAGATCTTAAGAAGTACTTGCTGGACAAAGAAATGAATGCAAAATAGCAAATTATTTTATTTTTTCGTTGAGGCAGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACAACACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGCAGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAATGTGCTGGGATTACAGGCATGGACAACCATGCCCAGCTCAAAATAGCAAATAAATTAATTTCATTCTTTCTACTGTAATTGGGTTAAGACTGAACAGATGACAGGCCTAGAAATCAGAAGCTGGACAGCGCTCCTTCCTGCCCAGGAAGAACGGCTGCCTGTGGCTCCAAAGGATCCAGCAATGGCTCCAGAACCTCTTCCCAGAGGCATCTCTGACCCTTCATCCCATCCCACCTGATCCCCCTTGGGCAGCAGATCTGAACCTGGCCCTCAGTAGCTCTCAGCCGGGCCTCCCTGCCTCCAGCCTCACCCTCTCCAGCTGACCTCACACACTGCTGCCAGACATTCATCCCCAGGCACAACCCTCCTCAAGCCTGGCTTCCCTCCAAAAGCTGCAGTAACTCCTAGTGACGACATCATGAGAAATCAAGTCCAAACCCCAAGATCTGCCGTTTAAGGCACTGCACCATTTGGCCTTGATTTCCCTCCCTGATCTGACCTCCACTGGTCCTCCCACGTGCCCTTCCCACCTCTGGCCAAACTGGATTACACTAGTCTTTGTTAGCAGTAAGGCCTCCCTCTGCCATCCTGGGCTCTCACCATCGGCTCCCTGTCCAAATTCAAACTGTCCCTTCATGCTGGGTGCAGTGGTGCATGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGAGGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCCAGGCAACAGAGCGATATCCCATTTAAAAAAAGAAAGAAAGAAAAGAAAACAAACTCTCCCTTCAGGACAAGTTGGTAAGTGGAAAAGGGAGGTTACAAACCTTGTATACAGTGTATCCGTATTTTTGTTAAAATGTACATGTGTATTTATGAAAAGAAATAAAACTACACTGAAAGGTTCCATGTGGTTATCTGTGGTAGTGAAATTACAAGGGATTTTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAAGATGGTGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCGAACTCCTGGGCTTAAGCAATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGAACTACAGGCACACACCACCATGCCCAGCTAATTTTTTAATTTTTATTTTGTAGAGACGGGGTCTTGCTATGTTGACCAGGCTGGTTTCAAGCTCCTGGCCTCAACTGATTTTCCCATTTTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGATCCACTGCAGCTGGCTTGGTCTTTCTTTCATCTATCTTAAATTTTCTAAAGTTTCCTACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCA
Task1_train_25524
Here is a mutation in MIF4GD-DT, SLC25A19 (MIF4GD divergent transcript| solute carrier family 25 member 19) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
TCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGCGAATGCCCCTGAAGTGGCGCGGACCCCACCGCCCGGCGTCTGCCCTGGGTGACAGGAGGGCACCTAGAAGTGGGGGAAGAACTGCCGCCGCTCCTGCCGCGCGACCGGGAGGAGCGCTGCCGGCGCTGCCCGCGTTCTCGCCTCCTTTTAAAAGAACCGCCAAAGTGGTCACCGAAAACGGAGGAGGAAGAGAACGCTCAGCTGCAGCAAAAGAAACCAATGGGCAGGAAAGATGAAGAGAAGAAACTTTAACGGAATTTCATAAAAAATGCATTCAGGCAGCTGCATCCTCGTGGCCCCCGCCGCAGCCTGGACCTTGGGAACCAGCAGCCCAGAGCCAGGAAGCCCCAGCATTCAGGGCCCAGACAGACCCCAAAATCCCAGACCAGAGGCAGGGAAGGATGGTGCGAGGAGGAGCCCAGGACCCACACGCCAGGGCCAGGGCCAGCGCCGGCTCCCAGTGGGTGCCTCTTTCCAAGGCTGGAGAGGGAGGCAGAATGGAGGGCTTCCCAGGTCGGAGCAACCCTACAGGCCGGGCAGATGGAGGGAAGGGTGGAGGTCATGTTCTGGAGACCTCCCCTCAGCCTGGAACTGGTTTCTCCTCTGCCTCTCCGCCTGTGGGTGTCCCTCTGCTCTGGTAACACCCCAGGCACCAGCTGTGCCCTCACCAGGCTACGTGCCCGCCCCTTCCTTCTGCCATCCCCATCAGTGGGCTGCTTCAGAGCCACGGCCCTTCTGGGGCTACAGGGGAGGATGCACCCGCAGCATGCTCTGCACTGAGGAGCAGGCAGTGGGCGCTGATGCCACCTGTCCTGCTGATAGCTCCTCACCCAGCAAGGCTGACCCAGCTCTGGGTGAAAGAGGAGTCAGTGAGGTAGACTGGGGAGAGGCTGCACCTTCACCCACGCCTGCCCACAGCATGGCCCATCCACTTCCTGCACGGGCGCTGGGATCTGCTTTCCATGGAGCCCCACGGCCATGACCAGCCCGGTCCTGGGAGAGGACAGCCTGGGTGGTGGTGTGTCTGCAGACACGAAGGTCTGGGCACGGGGCCCAGAAAGTGACTGGCTCAGCCTGGAGTCTCCCCCAGCACTAGAAGCAGAGCTGCCAAGGGCTGCCGCTATGGAGAACATGGGATTTGAGGAAGGCAGGAGTCCTTTCCCTCATACTTTGTGAGTAGGCAGATGTGCCAGGGGAGATGGAGTAAGATAAGGAATGTGTGTTTAGCTTTAATGTCTATTAAATAGGTTGGAAAAACAGGCCAAGTGTAGGGACCTGACTCCTGCAAAGGGCCTACCGCAGCCCTCTGCACTCAAGCAGCAGCCCCATCCAGACCAGGAGTGTGTTCTGTTCTCCTGGCAGGCAGGGCTGATAGGTGTAGGATGGCGTCTGTTTCCTTTGGAGTGTGGGCTGGTCAGAGGAGAAACAGCAACTTCCTGCTCCTTCTCACTGTGTCGTTGGCTCACCATAGACCACGTCCTGCATTCCCTCTGATTCTCTCATGGGGAGAGCCCTGGACCTTCTGGTGGTGTCCCAGCTGGGTGGGTTCAAGGCTGCTACCCCGCTTGGGGCAGCTGGCCTGCAGGGAAGGGCCAGACGGCACCTCTCAGTGGAGACTGAATCTTCCTTCCTTCAGGAGGCTGCCTCCAGGGAAGACCTGGGGTCCTTCCTGCACTCAGCGCTGGCTGGCTGTCCTGTTCATGCAGTGGAAGACATTACAGAAGAATTCATACGAGAAGAACATGAAGCCTGTGGAGAGGGCAGCCTTCAGCAAGCTGGGGGACAGGCCCTTGAAGAAGCCCAGGGCGCCTTCCTTTTGCAGCACCTGCTTGGCACAGTCCATGAGGCCCTTGTATCTCCGTACCTGGGGAGAGGAAAGGGATGAAAATATGGATGCCCGCTCTGCTCCCATCAACACAGCCCCTGGCACATCACAGATCTTAAGAAGTACTTGCTGGACAAAGAAATGAATGCAAAATAGCAAATTATTTTATTTTTTCGTTGAGGCAGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACAACACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGCAGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAATGTGCTGGGATTACAGGCATGGACAACCATGCCCAGCTCAAAATAGCAAATAAATTAATTTCATTCTTTCTACTGTAATTGGGTTAAGACTGAACAGATGACAGGCCTAGAAATCAGAAGCTGGACAGCGCTCCTTCCTGCCCAGGAAGAACGGCTGCCTGTGGCTCCAAAGGATCCAGCAATGGCTCCAGAACCTCTTCCCAGAGGCATCTCTGACCCTTCATCCCATCCCACCTGATCCCCCTTGGGCAGCAGATCTGAACCTGGCCCTCAGTAGCTCTCAGCCGGGCCTCCCTGCCTCCAGCCTCACCCTCTCCAGCTGACCTCACACACTGCTGCCAGACATTCATCCCCAGGCACAACCCTCCTCAAGCCTGGCTTCCCTCCAAAAGCTGCAGTAACTCCTAGTGACGACATCATGAGAAATCAAGTCCAAACCCCAAGATCTGCCGTTTAAGGCACTGCACCATTTGGCCTTGATTTCCCTCCCTGATCTGACCTCCACTGGTCCTCCCACGTGCCCTTCCCACCTCTGGCCAAACTGGATTACACTAGTCTTTGTTAGCAGTAAGGCCTCCCTCTGCCATCCTGGGCTCTCACCATCGGCTCCCTGTCCAAATTCAAACTGTCCCTTCATGCTGGGTGCAGTGGTGCATGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGAGGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCCAGGCAACAGAGCGATATCCCATTTAAAAAAAGAAAGAAAGAAAAGAAAACAAACTCTCCCTTCAGGACAAGTTGGTAAGTGGAAAAGGGAGGTTACAAACCTTGTATACAGTGTATCCGTATTTTTGTTAAAATGTACATGTGTATTTATGAAAAGAAATAAAACTACACTGAAAGGTTCCATGTGGTTATCTGTGGTAGTGAAATTACAAGGGATTTTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAAGATGGTGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCGAACTCCTGGGCTTAAGCAATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGAACTACAGGCACACACCACCATGCCCAGCTAATTTTTTAATTTTTATTTTGTAGAGACGGGGTCTTGCTATGTTGACCAGGCTGGTTTCAAGCTCCTGGCCTCAACTGATTTTCCCATTTTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGATCCACTGCAGCTGGCTTGGTCTTTCTTTCATCTATCTTAAATTTTCTAAAGTTTCCTACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCAAAAGAAAGGGAGTATGTAAAAATCTGAGCAACTGAGGAGTG
TCAGGTGCACTGGGCCGGGAGACACCGCTGGGCTGCGCGGCGTGGGAAGAGCCTGCAGAGCGCGTGGTGGGGACCTGGTGGCAGGAGGAACAGCATCAGCCCTGGTCGCACCACTTTCCCCGCTCCCCCAACCCAGGTAGAGAAGGCAGGGGCTGCAGGGCCGGGGCCAGCCACAACCCTCTCCCGCTCCAAGGAGGACATGGGCGAAGCGAGTTTCAGGTCATAGGGGCAGCCCCGAGAAAGGGGCCCCATTGGCAACTCGCGGCCGTCGGTTGTTGCGAATGCCCCTGAAGTGGCGCGGACCCCACCGCCCGGCGTCTGCCCTGGGTGACAGGAGGGCACCTAGAAGTGGGGGAAGAACTGCCGCCGCTCCTGCCGCGCGACCGGGAGGAGCGCTGCCGGCGCTGCCCGCGTTCTCGCCTCCTTTTAAAAGAACCGCCAAAGTGGTCACCGAAAACGGAGGAGGAAGAGAACGCTCAGCTGCAGCAAAAGAAACCAATGGGCAGGAAAGATGAAGAGAAGAAACTTTAACGGAATTTCATAAAAAATGCATTCAGGCAGCTGCATCCTCGTGGCCCCCGCCGCAGCCTGGACCTTGGGAACCAGCAGCCCAGAGCCAGGAAGCCCCAGCATTCAGGGCCCAGACAGACCCCAAAATCCCAGACCAGAGGCAGGGAAGGATGGTGCGAGGAGGAGCCCAGGACCCACACGCCAGGGCCAGGGCCAGCGCCGGCTCCCAGTGGGTGCCTCTTTCCAAGGCTGGAGAGGGAGGCAGAATGGAGGGCTTCCCAGGTCGGAGCAACCCTACAGGCCGGGCAGATGGAGGGAAGGGTGGAGGTCATGTTCTGGAGACCTCCCCTCAGCCTGGAACTGGTTTCTCCTCTGCCTCTCCGCCTGTGGGTGTCCCTCTGCTCTGGTAACACCCCAGGCACCAGCTGTGCCCTCACCAGGCTACGTGCCCGCCCCTTCCTTCTGCCATCCCCATCAGTGGGCTGCTTCAGAGCCACGGCCCTTCTGGGGCTACAGGGGAGGATGCACCCGCAGCATGCTCTGCACTGAGGAGCAGGCAGTGGGCGCTGATGCCACCTGTCCTGCTGATAGCTCCTCACCCAGCAAGGCTGACCCAGCTCTGGGTGAAAGAGGAGTCAGTGAGGTAGACTGGGGAGAGGCTGCACCTTCACCCACGCCTGCCCACAGCATGGCCCATCCACTTCCTGCACGGGCGCTGGGATCTGCTTTCCATGGAGCCCCACGGCCATGACCAGCCCGGTCCTGGGAGAGGACAGCCTGGGTGGTGGTGTGTCTGCAGACACGAAGGTCTGGGCACGGGGCCCAGAAAGTGACTGGCTCAGCCTGGAGTCTCCCCCAGCACTAGAAGCAGAGCTGCCAAGGGCTGCCGCTATGGAGAACATGGGATTTGAGGAAGGCAGGAGTCCTTTCCCTCATACTTTGTGAGTAGGCAGATGTGCCAGGGGAGATGGAGTAAGATAAGGAATGTGTGTTTAGCTTTAATGTCTATTAAATAGGTTGGAAAAACAGGCCAAGTGTAGGGACCTGACTCCTGCAAAGGGCCTACCGCAGCCCTCTGCACTCAAGCAGCAGCCCCATCCAGACCAGGAGTGTGTTCTGTTCTCCTGGCAGGCAGGGCTGATAGGTGTAGGATGGCGTCTGTTTCCTTTGGAGTGTGGGCTGGTCAGAGGAGAAACAGCAACTTCCTGCTCCTTCTCACTGTGTCGTTGGCTCACCATAGACCACGTCCTGCATTCCCTCTGATTCTCTCATGGGGAGAGCCCTGGACCTTCTGGTGGTGTCCCAGCTGGGTGGGTTCAAGGCTGCTACCCCGCTTGGGGCAGCTGGCCTGCAGGGAAGGGCCAGACGGCACCTCTCAGTGGAGACTGAATCTTCCTTCCTTCAGGAGGCTGCCTCCAGGGAAGACCTGGGGTCCTTCCTGCACTCAGCGCTGGCTGGCTGTCCTGTTCATGCAGTGGAAGACATTACAGAAGAATTCATACGAGAAGAACATGAAGCCTGTGGAGAGGGCAGCCTTCTGCAAGCTGGGGGACAGGCCCTTGAAGAAGCCCAGGGCGCCTTCCTTTTGCAGCACCTGCTTGGCACAGTCCATGAGGCCCTTGTATCTCCGTACCTGGGGAGAGGAAAGGGATGAAAATATGGATGCCCGCTCTGCTCCCATCAACACAGCCCCTGGCACATCACAGATCTTAAGAAGTACTTGCTGGACAAAGAAATGAATGCAAAATAGCAAATTATTTTATTTTTTCGTTGAGGCAGAGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGCACAATCTTGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACAACACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGCAGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCTTCAGCCTCCCAATGTGCTGGGATTACAGGCATGGACAACCATGCCCAGCTCAAAATAGCAAATAAATTAATTTCATTCTTTCTACTGTAATTGGGTTAAGACTGAACAGATGACAGGCCTAGAAATCAGAAGCTGGACAGCGCTCCTTCCTGCCCAGGAAGAACGGCTGCCTGTGGCTCCAAAGGATCCAGCAATGGCTCCAGAACCTCTTCCCAGAGGCATCTCTGACCCTTCATCCCATCCCACCTGATCCCCCTTGGGCAGCAGATCTGAACCTGGCCCTCAGTAGCTCTCAGCCGGGCCTCCCTGCCTCCAGCCTCACCCTCTCCAGCTGACCTCACACACTGCTGCCAGACATTCATCCCCAGGCACAACCCTCCTCAAGCCTGGCTTCCCTCCAAAAGCTGCAGTAACTCCTAGTGACGACATCATGAGAAATCAAGTCCAAACCCCAAGATCTGCCGTTTAAGGCACTGCACCATTTGGCCTTGATTTCCCTCCCTGATCTGACCTCCACTGGTCCTCCCACGTGCCCTTCCCACCTCTGGCCAAACTGGATTACACTAGTCTTTGTTAGCAGTAAGGCCTCCCTCTGCCATCCTGGGCTCTCACCATCGGCTCCCTGTCCAAATTCAAACTGTCCCTTCATGCTGGGTGCAGTGGTGCATGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGAGGGGAGGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCCAGGCAACAGAGCGATATCCCATTTAAAAAAAGAAAGAAAGAAAAGAAAACAAACTCTCCCTTCAGGACAAGTTGGTAAGTGGAAAAGGGAGGTTACAAACCTTGTATACAGTGTATCCGTATTTTTGTTAAAATGTACATGTGTATTTATGAAAAGAAATAAAACTACACTGAAAGGTTCCATGTGGTTATCTGTGGTAGTGAAATTACAAGGGATTTTGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCGCCCAAGATGGTGTGCAGTAGTGTGATCATAGCTCACTGCAGCCTCGAACTCCTGGGCTTAAGCAATTCTCCTGCCTCAGCCTCTCTAGTAGCTGGAACTACAGGCACACACCACCATGCCCAGCTAATTTTTTAATTTTTATTTTGTAGAGACGGGGTCTTGCTATGTTGACCAGGCTGGTTTCAAGCTCCTGGCCTCAACTGATTTTCCCATTTTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGATCCACTGCAGCTGGCTTGGTCTTTCTTTCATCTATCTTAAATTTTCTAAAGTTTCCTACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCAAAAGAAAGGGAGTATGTAAAAATCTGAGCAACTGAGGAGTG
Task1_train_25525
This mutation occurs in SLC25A19 (solute carrier family 25 member 19) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
ACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCAAAAGAAAGGGAGTATGTAAAAATCTGAGCAACTGAGGAGTGACTACTGAGACTACAACATGACTTAGCACGGGGCTTCTCTTAATGGCCAACTCTCCTAGTGCACATAAAATACAACTTAGGCCCAGGTGTGGCGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGACGGATCAACTGAGGTCAGGAGTTCAAGACCACCTTGGCCAATGTGGTGAAACCCTGTCTCATATGGTGAAACCCCGTCTCTTCTAAAAATACAAAAATTAGGACATGGTGGCGGGCGCCTGTAATCCCAGCTGCTTGGAGGCCAAGGCAGGAGAATCGCTTGAACCAGGGAGGCGCAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCCGTCTCAAAAAATATATATATATATATGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACGCGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGA
ACAAAGAAAATGCATTATAACTATAAACCCAGCTCTTTCTCTTCCCCCAAGGAAGGAATGCTCTCTCCCTACCTTGCCTCCCATTCCATGCCATCCCTCTCCTCTGACATTGTCAGGCATATTTTTTCACACCTCCGCATCTCAGGTTCCCAGGATACAGAGGGGAAAGGCCTGGAATTGCCCATCCTTAGCCTACCCCTAACCCTACCCACTGACCAAAAGAAAGGGAGTATGTAAAAATCTGAGCAACTGAGGAGTGACTACTGAGACTACAACATGACTTAGCACGGGGCTTCTCTTAATGGCCAACTCTCCTAGTGCACATAAAATACAACTTAGGCCCAGGTGTGGCGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCTGAGGCGGACGGATCAACTGAGGTCAGGAGTTCAAGACCACCTTGGCCAATGTGGTGAAACCCTGTCTCATATGGTGAAACCCCGTCTCTTCTAAAAATACAAAAATTAGGACATGGTGGCGGGCGCCTGTAATCCCAGCTGCTTGGAGGCCAAGGCAGGAGAATCGCTTGAACCAGGGAGGCGCAGGCTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCCGTCTCAAAAAATATATATATATATATGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCACGCGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAATCCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGA
Task1_train_25526
Gene SLC25A19 (solute carrier family 25 member 19), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
AGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGACCAGATATTCTCTGATCATTCTAGAATCTAAAATCCAACATGTCAATAGTTGAAGCTAGAGGTAATATGCTATTATCTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTATGTTGCCTAGGCTGGAGTTGCCTAGGCACAATCTTGGCTCACTGCAGCCCCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGACCCCCGAGTAGCTGTGATTATAGGCACCTGACACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCATCGCGCCCAGCCCAATTCTTTGTTTTTTTTGAGACAGGATATCTCACTTTGTTGTTTGGGCTGGAGTGCAATGGTGCAATCATGGCTCACTCTCCAGGCTCAAGCAATCCTCTCAACTCAATCTTCCAAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTGTAGAGAGCCATGTTGCCCACATCAAACTCTTAAACAAATTATCCTTCCTTTCCCACTAACAGTATCCTAAAGCAGAGTTGAGACAGTGGAAAAATTATTGTTTATAAGCCAGGTCTGGTGGCTCAGCCTTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTCGAGAACAGCCTGGGCAACATGGTGAATGAAACTCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTACCAAGTGCCTATGGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAAGTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGACCAGATATTCTCTGATCATTCTAGAATCTAAAATCCAACATGTCAATAGTTGAAGCTAGAGGTAATATGCTATTATCTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTATGTTGCCTAGGCTGGAGTTGCCTAGGCACAATCTTGGCTCACTGCAGCCCCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGACCCCCGAGTAGCTGTGATTATAGGCACCTGACACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCATCGCGCCCAGCCCAATTCTTTGTTTTTTTTGAGACAGGATATCTCACTTTGTTGTTTGGGCTGGAGTGCAATGGTGCAATCATGGCTCACTCTCCAGGCTCAAGCAATCCTCTCAACTCAATCTTCCAAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTGTAGAGAGCCATGTTGCCCACATCAAACTCTTAAACAAATTATCCTTCCTTTCCCACTAACAGTATCCTAAAGCAGAGTTGAGACAGTGGAAAAATTATTGTTTATAAGCCAGGTCTGGTGGCTCAGCCTTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTCGAGAACAGCCTGGGCAACATGGTGAATGAAACTCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTACCAAGTGCCTATGGTCCCAGCTACTTGGG
Task1_train_25527
The gene SLC25A19 (solute carrier family 25 member 19) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
CCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGACCAGATATTCTCTGATCATTCTAGAATCTAAAATCCAACATGTCAATAGTTGAAGCTAGAGGTAATATGCTATTATCTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTATGTTGCCTAGGCTGGAGTTGCCTAGGCACAATCTTGGCTCACTGCAGCCCCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGACCCCCGAGTAGCTGTGATTATAGGCACCTGACACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCATCGCGCCCAGCCCAATTCTTTGTTTTTTTTGAGACAGGATATCTCACTTTGTTGTTTGGGCTGGAGTGCAATGGTGCAATCATGGCTCACTCTCCAGGCTCAAGCAATCCTCTCAACTCAATCTTCCAAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTGTAGAGAGCCATGTTGCCCACATCAAACTCTTAAACAAATTATCCTTCCTTTCCCACTAACAGTATCCTAAAGCAGAGTTGAGACAGTGGAAAAATTATTGTTTATAAGCCAGGTCTGGTGGCTCAGCCTTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTCGAGAACAGCCTGGGCAACATGGTGAATGAAACTCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTACCAAGTGCCTATGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAC
CCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGGGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGACCAGATATTCTCTGATCATTCTAGAATCTAAAATCCAACATGTCAATAGTTGAAGCTAGAGGTAATATGCTATTATCTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTATGTTGCCTAGGCTGGAGTTGCCTAGGCACAATCTTGGCTCACTGCAGCCCCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGACCCCCGAGTAGCTGTGATTATAGGCACCTGACACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCATCGCGCCCAGCCCAATTCTTTGTTTTTTTTGAGACAGGATATCTCACTTTGTTGTTTGGGCTGGAGTGCAATGGTGCAATCATGGCTCACTCTCCAGGCTCAAGCAATCCTCTCAACTCAATCTTCCAAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTGTAGAGAGCCATGTTGCCCACATCAAACTCTTAAACAAATTATCCTTCCTTTCCCACTAACAGTATCCTAAAGCAGAGTTGAGACAGTGGAAAAATTATTGTTTATAAGCCAGGTCTGGTGGCTCAGCCTTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTCGAGAACAGCCTGGGCAACATGGTGAATGAAACTCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTACCAAGTGCCTATGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAC
Task1_train_25528
A variant was discovered in gene SLC25A19 (solute carrier family 25 member 19), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Amish lethal microcephaly
GTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGCCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGACCAGATATTCTCTGATCATTCTAGAATCTAAAATCCAACATGTCAATAGTTGAAGCTAGAGGTAATATGCTATTATCTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTATGTTGCCTAGGCTGGAGTTGCCTAGGCACAATCTTGGCTCACTGCAGCCCCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGACCCCCGAGTAGCTGTGATTATAGGCACCTGACACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCATCGCGCCCAGCCCAATTCTTTGTTTTTTTTGAGACAGGATATCTCACTTTGTTGTTTGGGCTGGAGTGCAATGGTGCAATCATGGCTCACTCTCCAGGCTCAAGCAATCCTCTCAACTCAATCTTCCAAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTGTAGAGAGCCATGTTGCCCACATCAAACTCTTAAACAAATTATCCTTCCTTTCCCACTAACAGTATCCTAAAGCAGAGTTGAGACAGTGGAAAAATTATTGTTTATAAGCCAGGTCTGGTGGCTCAGCCTTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTCGAGAACAGCCTGGGCAACATGGTGAATGAAACTCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTACCAAGTGCCTATGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCCAGGAGGTGGAGGCTGCA
GTGAGCCGAGATCGTGCCATTGCACTCCAGGCTGGGCAACAAGAGCAAAACTCCGTTTCAAAACAAAAACAAAAACAAAAAAATACATATATATATAACCTAGTTGCTCAAATTCACCCAATTCCAGAACAGCTACAGCAAAACCCCTTTTCTGTGTGCTTTAATATTTGGGGACCTTCCTTGCTCTGTTGCCCAGGCTGCAATGCAGTGGTGCAATCGTGGCTCCCTGTAACATCCACCTCTCACGTTCAAGCGATTCTCCTGTTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCATACCCAGCTAATTTTTATATTTTTAGTAGAAACGGGGTTTCACCATGTTGATCAGGCTGGTCTAGAACTCCTGACCTCAGGTGATCCACTCGTCTCGGCCTCCCAAAATGTTGGGATTACAGGAGTGAGCCACCACGTCCACGCCCAGCCTCTGGACATATTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAAACTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGTGCCCACCACCACGCCCGGCTAATTTTTTTGTTTTTTTTTTTTTTTAGTAGAGATGGGCTTTCACCGTGTTATCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGGATATGTTTTAAGAGCAGAAATTGTGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTGGAGTCAGGAGGGTTCAAGACCAGCCTGGGAAACAGAGTGAGACCCTGCCTCTATTTTAAAGAAAAAAAAAAAGAGCAGACACTGTATGTCCTTGGCCCAGATCCTTCCACAGTGCTCAGGACCCAGGGCTTGCATGCAGCTTTCCCACATGCTTAGGGATCTCAAGGAATGGACGCAGGTGAAGGGGCCATGGCCAGGGGTGATGTTGCCCAATGGGTAGGAGGTGACTACTGGTTCCCTCATGTGCCCAGTGATGGCAAGGGTCAGAGCTGTCTGCCTGGGAGTGAACGGCTCACCTGGCCAAAGGCAGCTCTGGCATGCTCAAACCCTCCAACCTGTAGCCGCTTCTTGAAGAGGTCCAGCGGATATGTCAGGGTCTTGCTGATGACACCAGCTCCACTGCCACAAAGCAGGTTTTGGAGGTTCTCTGAACCAGAGAAGTGGGATTGGGAGAATGGATGAGAGAAATGCAGTCTATGGGTGACAACTTAAAAGGCGTCAGGGCTAATCCTCCACCACAAACCAAACCCCACAAGCGCACTTCTATCTGACCTCCACTGGTCCTCCCATTCCAAAAAGGAATGTAATCTAGGGGGAGAAGAGCCAGACACGGCCACTTCTGGTGGAGTGATCCGGGCTGGAAGGGTTGGAGGCCGCAGTCCCCCAGCTGGAGGCAACATGGGCCTCAGGCTCTGCAGCATGACTCAGTTCAGGGCTGGAGAGGACCAGGATGCCCCACCCCTCCCCAGCCTCCCCCTGCCCCCATCTCCCACTCCCCCTGCCTGGAAAAAGCAACTGAAGAACCTCAACCAAAAAACAAGCAATTTGCAATTTGGACTTCTGACAAAAATGAAAACCATGACCAATCACTGGAAGTAAATTTCAGTAATGCCAGTGATGGGTGTGGCAGGAGCTGGAAGAAATCAAGTCCTCTCCAAGCAGCTGCAGTTGTTTTGTTTGCCACATTACAGAGCCAGGTACAGAGACCCGCGGTCTTTGATTCGGACAGGAGAACTTTAGCTCCTTTGTGATTTGGAAGGGGGTGTTCTGGTGGCTGGGGTGGGAGGGCTCCCTCTCGTGTGAGGGCTGCCTCACCATTTTTCTTTCCTTCGGCTGGTATGGCCCACTTGTACAGGTGCTTCAAGGAGCTGTAGCAAGAGAACTGCAGCCCGGCGTAGGGGAAGATGGCGATCAAGGTGGGAGCCAAGGCTTTGTAGAAAACCTGGGGGCCTTCGCTCCTATACATGGTCCCCACGGCGTGGCGCAGCGTATTATAGACCTGGACACACACACGCACTTTGAATGAGCTCAGTGAAGTGGTTTTAGCCCTGGAACAGCCCATCATAGCTCTGTCCCCTCGCCTAAAATACCAGCTACCAGGAGCGAAACTCCTCCTGCCAGGAAGACAGTCAAGGGAAACGCTGGACAGAGATTCGAAGGATGGCATTTTCCAGAAACTCCCCCTTCTACACATGTATACCACTGTTATATCCACAGGTGTGCACAAAAGTATGTGTCCAGGAGTCACTGCAGCGTCCTGGGGAAGAGCTAAAGACGCGATGTCCATCTGTGGGTGCTGGTTACGTGAATTATGGGACACCAGCTCACGAGAGAATAGTGCAGCTGTTAAAACAGGAAGGTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAAGCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCTTCTTGGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTACCACGGCACTCCAACCTGGGTGACAGGCGGAGACTCTGTCTCAAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAATAAAAATAAAGTAGAGAGGAGGTCTTGCTATGTTGCCCAAACTGGTCTCGAACTCCTGACCTCAAGTGATCCTTCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAAGCATGTTACTTAGAATTATGGAAGGAAATAATCAAAGAAACAACTATAAGTAGTAAAAGTAGTCGCCTCTGGGGATCGGAATCAGGGAGCGGCTGGGTATTTTTTAAAATTATAATTCATGAAGAACTGTCTTTGTAACCTTGATACATCTTATATGTTGTAAAATTTTTTATCGTTCAAGATCATGTTTATAATATGGTTGTGACTAGTCTTAAGGCAGGTGGAGAGTCTTGTAGGTTTTAACCACATCTCTTCCCCTCACTTTCATGACCAGATATTCTCTGATCATTCTAGAATCTAAAATCCAACATGTCAATAGTTGAAGCTAGAGGTAATATGCTATTATCTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTTGCTATGTTGCCTAGGCTGGAGTTGCCTAGGCACAATCTTGGCTCACTGCAGCCCCCACCTCCCAGGTTCAAGCGATTGTCCTGCCTCAGACCCCCGAGTAGCTGTGATTATAGGCACCTGACACCACGCCCAACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGATGATCTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCATCGCGCCCAGCCCAATTCTTTGTTTTTTTTGAGACAGGATATCTCACTTTGTTGTTTGGGCTGGAGTGCAATGGTGCAATCATGGCTCACTCTCCAGGCTCAAGCAATCCTCTCAACTCAATCTTCCAAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTGTAGAGAGCCATGTTGCCCACATCAAACTCTTAAACAAATTATCCTTCCTTTCCCACTAACAGTATCCTAAAGCAGAGTTGAGACAGTGGAAAAATTATTGTTTATAAGCCAGGTCTGGTGGCTCAGCCTTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGAGGATCACTTGAGCCTAGGAGTTCGAGAACAGCCTGGGCAACATGGTGAATGAAACTCCATCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTACCAAGTGCCTATGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGACCCCAGGAGGTGGAGGCTGCA
Task1_train_25529
Gene SLC25A19 (solute carrier family 25 member 19) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
CCCATTCTTTGTGGAAACCAAAGACACTCGCAATTGGCCGGGCGTGGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGACAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAAACCAACCAACCAAACAAACAAAAAAACAAAGACGCTCTCATAATAATCCAGCAATAAATTCTCAAGTGGGCAGTCCTTGATCCAGCCCACTGCTGGGTAATTATTTGTTCTGTTTCATAGCAGTAGGTTCTGTCTTCCAGGGAGGCTGTGAGCTCCTTTGAGGCAGGGACATAGAGCACCCCGCACAGTGCTGCCCACAGTCATGGGTTTTACAAACTGACTGCCAGACAAACTGAAAACCCGAACCTCTCCCAGCTTTGCTTTCTGCAAGGACAAGAACTCAACCTCTGCCGAGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGACGGCTTGAGCTCAAGAGTTCAAGACCAGACTGGGCAACATGACGAAACCCCGTCTCTAAAAAAATACAAAACTCAGCCAGGTGTAGTCTCAGCTACCGGGGAGGCTGAGGCAGAAGGATCACTTGATCCCAGGAGGTCGAGGCTTCAGTGAGCAGTGATCATGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACACTGTCTCAAAAAATATATATATAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGCTAACATGGCGAAACTCTGTCTCTACTAAAAGTACAAAAAATAGCTGGGCATGATGGCAGGCGCCTGTAATCCCAGCTACTGGGAGGCGGAGGCAGGAGAACTGCTTGAAATCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCTGGCCATTGCATTCCAGCCTGGGCAATAAGAGCGAGACTCCGTCTCTTGAAAAAAATAAAAATAAAAATAGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTGACTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTAGCCGAGACTGTGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAATAAATAAATAACTAAAAATAAAAATAAAAATAAAAATCATATATTTAAAAAAAACATGCTTATCAAATAAAAGAAAAAAATAGATCGCACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAAATAAAAAATAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCGGATCGTGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGCTTGCAGTAAGCCAAGATCGCACCACTGCACTCCAGCCTGCATGACAGAGCGAGATTCTGTCTCAAACAAAACAAAACAGAACAAAACAAAAATAAATAAATAAATAAATAAAAAATAAAGAATGCTACCCCTGTGACAACACCTTCCTTATTTGGGCTTCCCCGGTCTGGCTCCTGGCCACTCACCTTGGGCTCACCCTGAGCTGCAAAGCGGGTGCGCAGAACATCCACGGGGTGCACAGTGAGGGTGGCCATACAGGCAGCCAGGCCACCACATACAAAGTGCACTGAGAATTCCCGGGCGTCATACACGCTGCCTCTGTGGACCAGCTCCGTCAGCATTTCAAATGACAAGAACTGCAAGAGTAAGTGAAGAAGTCACCGACAGCCCAAAGGATGAGGGTGAGGACCAAATACTCCCCAAATACATCACCCGTGACCCGGCTGGGGCCCAGGTGGAGGGGCGAGGAAAAGGTCAGGAAATGTTCTTCTTGAGCAGTGACAGCATATGATAAATACAACATTCTACGCAAAACTCGGATGCCATTTGATACTTGAGTAGAGTCAGACACTCAAAGGGTTAAGAAGATATATGGGGGCCAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTCTGGGGGGCCGAGGCGGGCAGATCACGAGGTCACAAGTTCGAGACCAGCCGGGTCAACATAGTGAAACCCTGTCTTTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCACCTGTAGTCCCAGGTACTTGGGGGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGCTGCACTGAGCCAAGATCATGCCACTGCGCTCTCCAGCCCGGGCGACAGAGCAAGACTCGGTCTCAAAAAAAAGACTGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGGGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTT
CCCATTCTTTGTGGAAACCAAAGACACTCGCAATTGGCCGGGCGTGGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGACAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAAACCAACCAACCAAACAAACAAAAAAACAAAGACGCTCTCATAATAATCCAGCAATAAATTCTCAAGTGGGCAGTCCTTGATCCAGCCCACTGCTGGGTAATTATTTGTTCTGTTTCATAGCAGTAGGTTCTGTCTTCCAGGGAGGCTGTGAGCTCCTTTGAGGCAGGGACATAGAGCACCCCGCACAGTGCTGCCCACAGTCATGGGTTTTACAAACTGACTGCCAGACAAACTGAAAACCCGAACCTCTCCCAGCTTTGCTTTCTGCAAGGACAAGAACTCAACCTCTGCCGAGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGACGGCTTGAGCTCAAGAGTTCAAGACCAGACTGGGCAACATGACGAAACCCCGTCTCTAAAAAAATACAAAACTCAGCCAGGTGTAGTCTCAGCTACCGGGGAGGCTGAGGCAGAAGGATCACTTGATCCCAGGAGGTCGAGGCTTCAGTGAGCAGTGATCATGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACACTGTCTCAAAAAATATATATATAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGCTAACATGGCGAAACTCTGTCTCTACTAAAAGTACAAAAAATAGCTGGGCATGATGGCAGGCGCCTGTAATCCCAGCTACTGGGAGGCGGAGGCAGGAGAACTGCTTGAAATCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCTGGCCATTGCATTCCAGCCTGGGCAATAAGAGCGAGACTCCGTCTCTTGAAAAAAATAAAAATAAAAATAGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTGACTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTAGCCGAGACTGTGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAATAAATAAATAACTAAAAATAAAAATAAAAATAAAAATCATATATTTAAAAAAAACATGCTTATCAAATAAAAGAAAAAAATAGATCGCACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAAATAAAAAATAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCGGATCGTGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGCTTGCAGTAAGCCAAGATCGCACCACTGCACTCCAGCCTGCATGACAGAGCGAGATTCTGTCTCAAACAAAACAAAACAGAACAAAACAAAAATAAATAAATAAATAAATAAAAAATAAAGAATGCTACCCCTGTGACAACACCTTCCTTATTTGGGCTTCCCCGGTCTGGCTCCTGGCCACTCACCTTGGTCTCACCCTGAGCTGCAAAGCGGGTGCGCAGAACATCCACGGGGTGCACAGTGAGGGTGGCCATACAGGCAGCCAGGCCACCACATACAAAGTGCACTGAGAATTCCCGGGCGTCATACACGCTGCCTCTGTGGACCAGCTCCGTCAGCATTTCAAATGACAAGAACTGCAAGAGTAAGTGAAGAAGTCACCGACAGCCCAAAGGATGAGGGTGAGGACCAAATACTCCCCAAATACATCACCCGTGACCCGGCTGGGGCCCAGGTGGAGGGGCGAGGAAAAGGTCAGGAAATGTTCTTCTTGAGCAGTGACAGCATATGATAAATACAACATTCTACGCAAAACTCGGATGCCATTTGATACTTGAGTAGAGTCAGACACTCAAAGGGTTAAGAAGATATATGGGGGCCAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTCTGGGGGGCCGAGGCGGGCAGATCACGAGGTCACAAGTTCGAGACCAGCCGGGTCAACATAGTGAAACCCTGTCTTTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCACCTGTAGTCCCAGGTACTTGGGGGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGCTGCACTGAGCCAAGATCATGCCACTGCGCTCTCCAGCCCGGGCGACAGAGCAAGACTCGGTCTCAAAAAAAAGACTGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGGGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTT
Task1_train_25530
Here is a genetic alteration in SLC25A19 (solute carrier family 25 member 19) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
CAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAAACCAACCAACCAAACAAACAAAAAAACAAAGACGCTCTCATAATAATCCAGCAATAAATTCTCAAGTGGGCAGTCCTTGATCCAGCCCACTGCTGGGTAATTATTTGTTCTGTTTCATAGCAGTAGGTTCTGTCTTCCAGGGAGGCTGTGAGCTCCTTTGAGGCAGGGACATAGAGCACCCCGCACAGTGCTGCCCACAGTCATGGGTTTTACAAACTGACTGCCAGACAAACTGAAAACCCGAACCTCTCCCAGCTTTGCTTTCTGCAAGGACAAGAACTCAACCTCTGCCGAGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGACGGCTTGAGCTCAAGAGTTCAAGACCAGACTGGGCAACATGACGAAACCCCGTCTCTAAAAAAATACAAAACTCAGCCAGGTGTAGTCTCAGCTACCGGGGAGGCTGAGGCAGAAGGATCACTTGATCCCAGGAGGTCGAGGCTTCAGTGAGCAGTGATCATGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACACTGTCTCAAAAAATATATATATAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGCTAACATGGCGAAACTCTGTCTCTACTAAAAGTACAAAAAATAGCTGGGCATGATGGCAGGCGCCTGTAATCCCAGCTACTGGGAGGCGGAGGCAGGAGAACTGCTTGAAATCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCTGGCCATTGCATTCCAGCCTGGGCAATAAGAGCGAGACTCCGTCTCTTGAAAAAAATAAAAATAAAAATAGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTGACTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTAGCCGAGACTGTGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAATAAATAAATAACTAAAAATAAAAATAAAAATAAAAATCATATATTTAAAAAAAACATGCTTATCAAATAAAAGAAAAAAATAGATCGCACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAAATAAAAAATAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCGGATCGTGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGCTTGCAGTAAGCCAAGATCGCACCACTGCACTCCAGCCTGCATGACAGAGCGAGATTCTGTCTCAAACAAAACAAAACAGAACAAAACAAAAATAAATAAATAAATAAATAAAAAATAAAGAATGCTACCCCTGTGACAACACCTTCCTTATTTGGGCTTCCCCGGTCTGGCTCCTGGCCACTCACCTTGGGCTCACCCTGAGCTGCAAAGCGGGTGCGCAGAACATCCACGGGGTGCACAGTGAGGGTGGCCATACAGGCAGCCAGGCCACCACATACAAAGTGCACTGAGAATTCCCGGGCGTCATACACGCTGCCTCTGTGGACCAGCTCCGTCAGCATTTCAAATGACAAGAACTGCAAGAGTAAGTGAAGAAGTCACCGACAGCCCAAAGGATGAGGGTGAGGACCAAATACTCCCCAAATACATCACCCGTGACCCGGCTGGGGCCCAGGTGGAGGGGCGAGGAAAAGGTCAGGAAATGTTCTTCTTGAGCAGTGACAGCATATGATAAATACAACATTCTACGCAAAACTCGGATGCCATTTGATACTTGAGTAGAGTCAGACACTCAAAGGGTTAAGAAGATATATGGGGGCCAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTCTGGGGGGCCGAGGCGGGCAGATCACGAGGTCACAAGTTCGAGACCAGCCGGGTCAACATAGTGAAACCCTGTCTTTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCACCTGTAGTCCCAGGTACTTGGGGGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGCTGCACTGAGCCAAGATCATGCCACTGCGCTCTCCAGCCCGGGCGACAGAGCAAGACTCGGTCTCAAAAAAAAGACTGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGGGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTTGCAGACAAGTGCAGAGACAGGATCGCAGGGCATGCCCAGCCAGTAAGCACCTGACTTGGGCGGTCACTGTGATGTCACAGG
CAGAGGCCAGGGGATCACCTGAAGTCAAGAGTTTGAGACCAGCCTGGCCGACATGGTGAAACCCTGTCTCTACGAAAAATATAAAAATTAGCCGGACATGGCATCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCTGAGATTGCGCCACTGCACTCTAGCCTGAGCAACAAAGTGAGACTGTCTCAAAAAACCAACCAACCAAACAAACAAAAAAACAAAGACGCTCTCATAATAATCCAGCAATAAATTCTCAAGTGGGCAGTCCTTGATCCAGCCCACTGCTGGGTAATTATTTGTTCTGTTTCATAGCAGTAGGTTCTGTCTTCCAGGGAGGCTGTGAGCTCCTTTGAGGCAGGGACATAGAGCACCCCGCACAGTGCTGCCCACAGTCATGGGTTTTACAAACTGACTGCCAGACAAACTGAAAACCCGAACCTCTCCCAGCTTTGCTTTCTGCAAGGACAAGAACTCAACCTCTGCCGAGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGACGGCTTGAGCTCAAGAGTTCAAGACCAGACTGGGCAACATGACGAAACCCCGTCTCTAAAAAAATACAAAACTCAGCCAGGTGTAGTCTCAGCTACCGGGGAGGCTGAGGCAGAAGGATCACTTGATCCCAGGAGGTCGAGGCTTCAGTGAGCAGTGATCATGCCACTGCACTGCAGCCTAGGCAACAAAACAAGACACTGTCTCAAAAAATATATATATAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGCTAACATGGCGAAACTCTGTCTCTACTAAAAGTACAAAAAATAGCTGGGCATGATGGCAGGCGCCTGTAATCCCAGCTACTGGGAGGCGGAGGCAGGAGAACTGCTTGAAATCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCTGGCCATTGCATTCCAGCCTGGGCAATAAGAGCGAGACTCCGTCTCTTGAAAAAAATAAAAATAAAAATAGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGTGACTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGAGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTAGCCGAGACTGTGCCACTGCACTCCAGCCCGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAATAAATAAATAACTAAAAATAAAAATAAAAATAAAAATCATATATTTAAAAAAAACATGCTTATCAAATAAAAGAAAAAAATAGATCGCACCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAAATAAAAAATAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCGGATCGTGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGGAGGTGGAGCTTGCAGTAAGCCAAGATCGCACCACTGCACTCCAGCCTGCATGACAGAGCGAGATTCTGTCTCAAACAAAACAAAACAGAACAAAACAAAAATAAATAAATAAATAAATAAAAAATAAAGAATGCTACCCCTGTGACAACACCTTCCTTATTTGGGCTTCCCCGGTCTGGCTCCTGGCCACTCACCTTGGGCTCACCCTGAGCTGCAAAGCGGGTGCGCAGAACATCCACGGGGTGCACAGTGAGGGTGGCCATACAGGCAGCCAGGCCACTACATACAAAGTGCACTGAGAATTCCCGGGCGTCATACACGCTGCCTCTGTGGACCAGCTCCGTCAGCATTTCAAATGACAAGAACTGCAAGAGTAAGTGAAGAAGTCACCGACAGCCCAAAGGATGAGGGTGAGGACCAAATACTCCCCAAATACATCACCCGTGACCCGGCTGGGGCCCAGGTGGAGGGGCGAGGAAAAGGTCAGGAAATGTTCTTCTTGAGCAGTGACAGCATATGATAAATACAACATTCTACGCAAAACTCGGATGCCATTTGATACTTGAGTAGAGTCAGACACTCAAAGGGTTAAGAAGATATATGGGGGCCAGGTGCAGTGGCTCACACTTGTAATCCCAGCACTCTGGGGGGCCGAGGCGGGCAGATCACGAGGTCACAAGTTCGAGACCAGCCGGGTCAACATAGTGAAACCCTGTCTTTACTAAAAATACAAAAATTAGTCAGGCATGGTGGCGGGCACCTGTAGTCCCAGGTACTTGGGGGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGCTGCACTGAGCCAAGATCATGCCACTGCGCTCTCCAGCCCGGGCGACAGAGCAAGACTCGGTCTCAAAAAAAAGACTGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCAGATCATGAGGTCAGGAGTTGGAGACCAGCCTGGCCAATATGGTGGAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGTGGGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTTGCAGACAAGTGCAGAGACAGGATCGCAGGGCATGCCCAGCCAGTAAGCACCTGACTTGGGCGGTCACTGTGATGTCACAGG
Task1_train_25531
Gene SLC25A19 (solute carrier family 25 member 19) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
CTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTTGCAGACAAGTGCAGAGACAGGATCGCAGGGCATGCCCAGCCAGTAAGCACCTGACTTGGGCGGTCACTGTGATGTCACAGGAAGAGTAGGAAGGGACATCTCTGGCACTAGCTGCCTAGGTGGGGGTCGTGGCTCTGCCATTTTCTAGCCAGTGGCTTTGGTTGGGTTAATTATGTAAGCTCTGTCCACCTCAGTCTTCTCATGCATGACATGGGAGGGACAACAGCCCCTACCTTAAGGACTGCTGTGACAGAGTGTATGTGAAGTGCTTCCAACAGGGGCCTGGCCCATGGTTTGCACTGTACAGGGCTGGTTCTTAAACACATCTACTGCATAAAATCACATGCTGTGCACTATGACTATACTAGTGCTCCACTGAACGAAGCATGAGTTCTAACCCTAGCCCCGCCATGTGCAGGCTGTGTGGCCTCGGACAGCTGACTTCTCCTCCCTGAGATCCACATGACAGCTACCCTGCCCTCCTCATGACGGTGTGGTGAAGTTCAGATGAACCACATATGTGAAGGTGGTATTTCAAAAACTGAAATGCATTAGTGCTGTCCTTCGCCAAGCCTCACAGAAGGCATGACATCAAATCGGTCTCCAAGATGCAACACCTAAGTCACACAGGATAGACGCAGGGACATGGCGGAGGGCAATGCCTACGGTACTGCTGGTCAGGAAGGCTCCCGGGTGAGGCAGGTGGGAAGCGTGGGGCCTGCCTCTTCCGTCCTGCCCTGCGCGGCATTCCTGCTTGCCTCACCCTCCCTCTGCTCCTCCACTGAGCAACGTGACCCCAGAGGTCTGGCCAGGTCCCTTGCCACCTACTTGGACAGCTCCATAGCCTATGGAGAGAATCTGAGCTGGGACGTGTCCTTTCCAGAAAGCTGTCGGACCCTCCTCCTGCAGAATCTGCCTAGAGGCCTGGAGGATGCCATGGTACTTTGCGCTGGGGTCACTGCGAGACAGGCGCTCATGCTGAAGCTAGGAATCAAAATAAAAAAGGTCAGGACAGTGGGGTGGGCTGGAATGTGAAGGGGAACTTTCAGAAAAGGCAAGCCCTTCATCTGGATAGAATTCCAAGTTTTAGGAACTGCTTTTGCAAGAAAGACTGAACTTGTCCTCCAGTCCATTGCATGGAAAAAGGGGAAGAGTACCTGGAAACGGATCTTGATGACGTCGAAGGGACTGATCAGCGCCCGAGTAACAAGTCCAGACACAGACCCAGCCACTGCCACCTGGAACTTGGTGTTATTCCTGCCATCTGGTTTGGGGTCATAGCCAACCATCCCTGCCTCTGGCCCACACAATGTCCATCAGTATCAAGCTAAATGCAAGAGATACGGAATAAACACCAGGCAAGTTTCTTATGGTCTCTGCTCAAATATCACCTCCTCAGAGCAGCCCTCCCTGACTAGACTGTCTAAAATAGCACTCACTTTTGGACTGGGCGCAGCGGTTCATGCCTGTATCCCAGCACTTTCGGAGGCCGAGGTGGGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACTGCAAAACCCCAACTCTACAAAAAATACAAAAATTTAAAAATAAAATAAAATAGCACTTGTTTTATTCCTCTTTACAGTACTTATTACTATGGCATATTTGTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCCATCATAACTCACCATAGCCTTGAACTCCTGGGCTCAAGTGATTCTCTTGCCTCAGCCTCCCAATTAGCTGTCACTTAACAGGTGCAGGCCTGGCTAAGTTTTTTATTTTTGTAGAGATAAGGTCTCAATGTTGCCCTGGCTGGTCTCGAACTCCTGGCCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATTGCTGAGATTACATGCATGAGCCACAGCGCCCGGCACGCCATGGGTTATTTATACAGTACATTTGTTTCTTGTCTCTCTCCCTGACTAGAATGTAAGCCCGTGGAAACACGACCTTGGTCTCATTTGTTCACTCGTAAATTTCCGGTTCCTGGAATAGAGCCCATCATGGTAAGTGCTTAATAATATTTGAGAATCGAATGAACAGGCTTGATAGGCAATTGTTGGTCCCAGAGATCAACTGGTTTTCCAAGACATCTGGCAACTTTATAGCAAACTCCTGCTCACTGAGTGAGCCCACTCAAGTGTAACGCTGAGGGACTGAAGGACGTGCAGGGCTGGAGAACAGGGATTGGGATTCTTTAACAATCCCCCACTGTCCAAAGGAAGAGCCCTGAGGCCCTGAGCCCCTTCACCTTTCCCTTTCCCCTCCTGCACACACCTCAGACCACCCCGGCACAGTGGGGCCATGCTACGCTAGCAAATGATGCTCCTGGCCAGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTATCTGGGTGTCGTGGTGGGCGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGAGGGAGAATCACGTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACGCCATTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAACAAAAAAACAAAACAAAACAAAAAAGAAAATGACGCTCCTGGGCTCCCCTGACTCAGACCTACTGACCTCTTCAGCCTCACTCTGGACCACTCTTCCCCTTCCCTCATTTAACCAGAGTGGTCTGACTGCTTCTGCCCAGTTCCTGGAAAACTCGGGGAGCACTCCTATCAATTGCCTTGCCTCTACTCCTCCAGTTCCCTACGTCTGAAATACAGCCCCACTCTCAGCCCCTACTCACTTTTTCAAGGCTAGCTCCTCTCATCCACCAGAGCTCAGCTAAAAAGCATCCCTTCCAG
CTGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAGAAAAAATAAAAAAGATACATGAGAACAATGTATATCAGAAAATGTCACTGGCTAACTTAGTTTTCTGAGAACTGGGGAAGACGGCCATGCTCTGATTCCTGCAGGGACCCCTTCAGTGCAGCTGGCGGCGGCACCTGGTGGCGGCACTGTTCGAGAATCATTCTTTTCTGGGGCAGATTCTTTTGGGAGCATGTTCCACAGGGTGACCCCCTTACATTCAGATCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTTGCAGACAAGTGCAGAGACAGGATCGCAGGGCATGCCCAGCCAGTAAGCACCTGACTTGGGCGGTCACTGTGATGTCACAGGAAGAGTAGGAAGGGACATCTCTGGCACTAGCTGCCTAGGTGGGGGTCGTGGCTCTGCCATTTTCTAGCCAGTGGCTTTGGTTGGGTTAATTATGTAAGCTCTGTCCACCTCAGTCTTCTCATGCATGACATGGGAGGGACAACAGCCCCTACCTTAAGGACTGCTGTGACAGAGTGTATGTGAAGTGCTTCCAACAGGGGCCTGGCCCATGGTTTGCACTGTACAGGGCTGGTTCTTAAACACATCTACTGCATAAAATCACATGCTGTGCACTATGACTATACTAGTGCTCCACTGAACGAAGCATGAGTTCTAACCCTAGCCCCGCCATGTGCAGGCTGTGTGGCCTCGGACAGCTGACTTCTCCTCCCTGAGATCCACATGACAGCTACCCTGCCCTCCTCATGACGGTGTGGTGAAGTTCAGATGAACCACATATGTGAAGGTGGTATTTCAAAAACTGAAATGCATTAGTGCTGTCCTTCGCCAAGCCTCACAGAAGGCATGACATCAAATCGGTCTCCAAGATGCAACACCTAAGTCACACAGGATAGACGCAGGGACATGGCGGAGGGCAATGCCTACGGTACTGCTGGTCAGGAAGGCTCCCGGGTGAGGCAGGTGGGAAGCGTGGGGCCTGCCTCTTCCGTCCTGCCCTGCGCGGCATTCCTGCTTGCCTCACCCTCCCTCTGCTCCTCCACTGAGCAACGTGACCCCAGAGGTCTGGCCAGGTCCCTTGCCACCTACTTGGACAGCTCCATAGCCTATGGAGAGAATCTGAGCTGGGACGTGTCCTTTCCAGAAAGCTGTCGGACCCTCCTCCTGCAGAATCTGCCTAGAGACCTGGAGGATGCCATGGTACTTTGCGCTGGGGTCACTGCGAGACAGGCGCTCATGCTGAAGCTAGGAATCAAAATAAAAAAGGTCAGGACAGTGGGGTGGGCTGGAATGTGAAGGGGAACTTTCAGAAAAGGCAAGCCCTTCATCTGGATAGAATTCCAAGTTTTAGGAACTGCTTTTGCAAGAAAGACTGAACTTGTCCTCCAGTCCATTGCATGGAAAAAGGGGAAGAGTACCTGGAAACGGATCTTGATGACGTCGAAGGGACTGATCAGCGCCCGAGTAACAAGTCCAGACACAGACCCAGCCACTGCCACCTGGAACTTGGTGTTATTCCTGCCATCTGGTTTGGGGTCATAGCCAACCATCCCTGCCTCTGGCCCACACAATGTCCATCAGTATCAAGCTAAATGCAAGAGATACGGAATAAACACCAGGCAAGTTTCTTATGGTCTCTGCTCAAATATCACCTCCTCAGAGCAGCCCTCCCTGACTAGACTGTCTAAAATAGCACTCACTTTTGGACTGGGCGCAGCGGTTCATGCCTGTATCCCAGCACTTTCGGAGGCCGAGGTGGGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACTGCAAAACCCCAACTCTACAAAAAATACAAAAATTTAAAAATAAAATAAAATAGCACTTGTTTTATTCCTCTTTACAGTACTTATTACTATGGCATATTTGTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCCATCATAACTCACCATAGCCTTGAACTCCTGGGCTCAAGTGATTCTCTTGCCTCAGCCTCCCAATTAGCTGTCACTTAACAGGTGCAGGCCTGGCTAAGTTTTTTATTTTTGTAGAGATAAGGTCTCAATGTTGCCCTGGCTGGTCTCGAACTCCTGGCCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATTGCTGAGATTACATGCATGAGCCACAGCGCCCGGCACGCCATGGGTTATTTATACAGTACATTTGTTTCTTGTCTCTCTCCCTGACTAGAATGTAAGCCCGTGGAAACACGACCTTGGTCTCATTTGTTCACTCGTAAATTTCCGGTTCCTGGAATAGAGCCCATCATGGTAAGTGCTTAATAATATTTGAGAATCGAATGAACAGGCTTGATAGGCAATTGTTGGTCCCAGAGATCAACTGGTTTTCCAAGACATCTGGCAACTTTATAGCAAACTCCTGCTCACTGAGTGAGCCCACTCAAGTGTAACGCTGAGGGACTGAAGGACGTGCAGGGCTGGAGAACAGGGATTGGGATTCTTTAACAATCCCCCACTGTCCAAAGGAAGAGCCCTGAGGCCCTGAGCCCCTTCACCTTTCCCTTTCCCCTCCTGCACACACCTCAGACCACCCCGGCACAGTGGGGCCATGCTACGCTAGCAAATGATGCTCCTGGCCAGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTATCTGGGTGTCGTGGTGGGCGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGAGGGAGAATCACGTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACGCCATTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAACAAAAAAACAAAACAAAACAAAAAAGAAAATGACGCTCCTGGGCTCCCCTGACTCAGACCTACTGACCTCTTCAGCCTCACTCTGGACCACTCTTCCCCTTCCCTCATTTAACCAGAGTGGTCTGACTGCTTCTGCCCAGTTCCTGGAAAACTCGGGGAGCACTCCTATCAATTGCCTTGCCTCTACTCCTCCAGTTCCCTACGTCTGAAATACAGCCCCACTCTCAGCCCCTACTCACTTTTTCAAGGCTAGCTCCTCTCATCCACCAGAGCTCAGCTAAAAAGCATCCCTTCCAG
Task1_train_25532
The following genetic variant occurs in SLC25A19 (solute carrier family 25 member 19) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Progressive demyelinating neuropathy with bilateral striatal necrosis
TTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTTGCAGACAAGTGCAGAGACAGGATCGCAGGGCATGCCCAGCCAGTAAGCACCTGACTTGGGCGGTCACTGTGATGTCACAGGAAGAGTAGGAAGGGACATCTCTGGCACTAGCTGCCTAGGTGGGGGTCGTGGCTCTGCCATTTTCTAGCCAGTGGCTTTGGTTGGGTTAATTATGTAAGCTCTGTCCACCTCAGTCTTCTCATGCATGACATGGGAGGGACAACAGCCCCTACCTTAAGGACTGCTGTGACAGAGTGTATGTGAAGTGCTTCCAACAGGGGCCTGGCCCATGGTTTGCACTGTACAGGGCTGGTTCTTAAACACATCTACTGCATAAAATCACATGCTGTGCACTATGACTATACTAGTGCTCCACTGAACGAAGCATGAGTTCTAACCCTAGCCCCGCCATGTGCAGGCTGTGTGGCCTCGGACAGCTGACTTCTCCTCCCTGAGATCCACATGACAGCTACCCTGCCCTCCTCATGACGGTGTGGTGAAGTTCAGATGAACCACATATGTGAAGGTGGTATTTCAAAAACTGAAATGCATTAGTGCTGTCCTTCGCCAAGCCTCACAGAAGGCATGACATCAAATCGGTCTCCAAGATGCAACACCTAAGTCACACAGGATAGACGCAGGGACATGGCGGAGGGCAATGCCTACGGTACTGCTGGTCAGGAAGGCTCCCGGGTGAGGCAGGTGGGAAGCGTGGGGCCTGCCTCTTCCGTCCTGCCCTGCGCGGCATTCCTGCTTGCCTCACCCTCCCTCTGCTCCTCCACTGAGCAACGTGACCCCAGAGGTCTGGCCAGGTCCCTTGCCACCTACTTGGACAGCTCCATAGCCTATGGAGAGAATCTGAGCTGGGACGTGTCCTTTCCAGAAAGCTGTCGGACCCTCCTCCTGCAGAATCTGCCTAGAGGCCTGGAGGATGCCATGGTACTTTGCGCTGGGGTCACTGCGAGACAGGCGCTCATGCTGAAGCTAGGAATCAAAATAAAAAAGGTCAGGACAGTGGGGTGGGCTGGAATGTGAAGGGGAACTTTCAGAAAAGGCAAGCCCTTCATCTGGATAGAATTCCAAGTTTTAGGAACTGCTTTTGCAAGAAAGACTGAACTTGTCCTCCAGTCCATTGCATGGAAAAAGGGGAAGAGTACCTGGAAACGGATCTTGATGACGTCGAAGGGACTGATCAGCGCCCGAGTAACAAGTCCAGACACAGACCCAGCCACTGCCACCTGGAACTTGGTGTTATTCCTGCCATCTGGTTTGGGGTCATAGCCAACCATCCCTGCCTCTGGCCCACACAATGTCCATCAGTATCAAGCTAAATGCAAGAGATACGGAATAAACACCAGGCAAGTTTCTTATGGTCTCTGCTCAAATATCACCTCCTCAGAGCAGCCCTCCCTGACTAGACTGTCTAAAATAGCACTCACTTTTGGACTGGGCGCAGCGGTTCATGCCTGTATCCCAGCACTTTCGGAGGCCGAGGTGGGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACTGCAAAACCCCAACTCTACAAAAAATACAAAAATTTAAAAATAAAATAAAATAGCACTTGTTTTATTCCTCTTTACAGTACTTATTACTATGGCATATTTGTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCCATCATAACTCACCATAGCCTTGAACTCCTGGGCTCAAGTGATTCTCTTGCCTCAGCCTCCCAATTAGCTGTCACTTAACAGGTGCAGGCCTGGCTAAGTTTTTTATTTTTGTAGAGATAAGGTCTCAATGTTGCCCTGGCTGGTCTCGAACTCCTGGCCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATTGCTGAGATTACATGCATGAGCCACAGCGCCCGGCACGCCATGGGTTATTTATACAGTACATTTGTTTCTTGTCTCTCTCCCTGACTAGAATGTAAGCCCGTGGAAACACGACCTTGGTCTCATTTGTTCACTCGTAAATTTCCGGTTCCTGGAATAGAGCCCATCATGGTAAGTGCTTAATAATATTTGAGAATCGAATGAACAGGCTTGATAGGCAATTGTTGGTCCCAGAGATCAACTGGTTTTCCAAGACATCTGGCAACTTTATAGCAAACTCCTGCTCACTGAGTGAGCCCACTCAAGTGTAACGCTGAGGGACTGAAGGACGTGCAGGGCTGGAGAACAGGGATTGGGATTCTTTAACAATCCCCCACTGTCCAAAGGAAGAGCCCTGAGGCCCTGAGCCCCTTCACCTTTCCCTTTCCCCTCCTGCACACACCTCAGACCACCCCGGCACAGTGGGGCCATGCTACGCTAGCAAATGATGCTCCTGGCCAGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTATCTGGGTGTCGTGGTGGGCGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGAGGGAGAATCACGTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACGCCATTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAACAAAAAAACAAAACAAAACAAAAAAGAAAATGACGCTCCTGGGCTCCCCTGACTCAGACCTACTGACCTCTTCAGCCTCACTCTGGACCACTCTTCCCCTTCCCTCATTTAACCAGAGTGGTCTGACTGCTTCTGCCCAGTTCCTGGAAAACTCGGGGAGCACTCCTATCAATTGCCTTGCCTCTACTCCTCCAGTTCCCTACGTCTGAAATACAGCCCCACTCTCAGCCCCTACTCACTTTTTCAAGGCTAGCTCCTCTCATCCACCAGAGCTCAGCTAAAAAGCATCCCTTCCAGGAGATGTACTTTTTTCCTTTTTTGTAAAAACAAAAAACAAAAACAGTAATACCTACATACGGTCTGTAGAGTTGTACAAAGCATAGAAAGAAGTCTGTAACCACACACATCAACAGGTAGTTGGTAACTGATCACAGGGAGAAGGGCTGAGAAGGGAAAAAGGAAGGTAGACCTGTCGATAATTCTATACTGTTTGAATTTGTTATGGCAAAAAAAAAAAAAAAAAATCCCTAAAACTAGCCTTCAGAATTACCCTAGTTCTTGAATACTTGTAGTAGTGGGGGTGGGGGT
TTTTTTTTTTTTTTTTTTAGGGACAAGAGTGTCTCTCTGTCACCCAGGCTGGAGTACAGTGGCACAAACACGGCTCACTGCAGCCTCAACCTCCTGGGCTCCAGTGATCCTCTCACCTCAGCTCCTCAAGTAGCTGGGATTACAGGCGCATGCCACCATGTCCAGCTAATTTTGGTATTTTTTGTAGAACCAGGGTTTCACTATGTTGCCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCTGCCCGCCTTGGGCTCCCAAAGGGCTGAGATTACACACATGAGCCACCGAGCTTGGCCCTGTTTTGCTTTTTGAGGCAAGGTCGTGCTCAGTTGCCCAGGCTGGAGTGCAGTGGCTCGATCACAGTTCACAGCAGCCTTGACTTCTCTAGCTCAAATTATTCTCCTGCCTCTGGAATAGCTGGGACGACAGGTGTGTACCACCATATCTGGCTAATTTATTTTTTATTTTTAGTAGAGAGGAGGTCTCCCTAATGTTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAAGTGATGGGATTACAGGTGTGAGCCACTATACCAGGGCTATGCTCAGATCTTCCTTCAGCCAACTGAAGATGGCCTGGCTTCTTTTCTTTTTTTGAGACAGGGTCTGGCTGTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCGTGGCTCACTGCAGCCTCCGCCTCCCGGGCTCAGATGCTGGGATTACAGGTGTGAGCCACTGAGTCCAGCCCACGCCTGGCTTCTTGAGACTATCCTGTTGCTGTATTTATTCGTCATGCTGCAATATCTGTTTGCAGACAAGTGCAGAGACAGGATCGCAGGGCATGCCCAGCCAGTAAGCACCTGACTTGGGCGGTCACTGTGATGTCACAGGAAGAGTAGGAAGGGACATCTCTGGCACTAGCTGCCTAGGTGGGGGTCGTGGCTCTGCCATTTTCTAGCCAGTGGCTTTGGTTGGGTTAATTATGTAAGCTCTGTCCACCTCAGTCTTCTCATGCATGACATGGGAGGGACAACAGCCCCTACCTTAAGGACTGCTGTGACAGAGTGTATGTGAAGTGCTTCCAACAGGGGCCTGGCCCATGGTTTGCACTGTACAGGGCTGGTTCTTAAACACATCTACTGCATAAAATCACATGCTGTGCACTATGACTATACTAGTGCTCCACTGAACGAAGCATGAGTTCTAACCCTAGCCCCGCCATGTGCAGGCTGTGTGGCCTCGGACAGCTGACTTCTCCTCCCTGAGATCCACATGACAGCTACCCTGCCCTCCTCATGACGGTGTGGTGAAGTTCAGATGAACCACATATGTGAAGGTGGTATTTCAAAAACTGAAATGCATTAGTGCTGTCCTTCGCCAAGCCTCACAGAAGGCATGACATCAAATCGGTCTCCAAGATGCAACACCTAAGTCACACAGGATAGACGCAGGGACATGGCGGAGGGCAATGCCTACGGTACTGCTGGTCAGGAAGGCTCCCGGGTGAGGCAGGTGGGAAGCGTGGGGCCTGCCTCTTCCGTCCTGCCCTGCGCGGCATTCCTGCTTGCCTCACCCTCCCTCTGCTCCTCCACTGAGCAACGTGACCCCAGAGGTCTGGCCAGGTCCCTTGCCACCTACTTGGACAGCTCCATAGCCTATGGAGAGAATCTGAGCTGGGACGTGTCCTTTCCAGAAAGCTGTCGGACCCTCCTCCTGCAGAATCTGCCTAGAGGCCTGGAGGATGCCATGGTACTTTGCGCTGGGGTCACTGCGAGACAGGCGCTCATGCTGAAGCTAGGAATCAAAATAAAAAAGGTCAGGACAGTGGGGTGGGCTGGAATGTGAAGGGGAACTTTCAGAAAAGGCAAGCCCTTCATCTGGATAGAATTCCAAGTTTTAGGAACTGCTTTTGCAAGAAAGACTGAACTTGTCCTCCAGTCCATTGCATGGAAAAAGGGGAAGAGTACCTGGAAACGGATCTTGATGACGTCGAAGGGACTGATCAGCGCCCGAGTAACAAGTCTAGACACAGACCCAGCCACTGCCACCTGGAACTTGGTGTTATTCCTGCCATCTGGTTTGGGGTCATAGCCAACCATCCCTGCCTCTGGCCCACACAATGTCCATCAGTATCAAGCTAAATGCAAGAGATACGGAATAAACACCAGGCAAGTTTCTTATGGTCTCTGCTCAAATATCACCTCCTCAGAGCAGCCCTCCCTGACTAGACTGTCTAAAATAGCACTCACTTTTGGACTGGGCGCAGCGGTTCATGCCTGTATCCCAGCACTTTCGGAGGCCGAGGTGGGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACTGCAAAACCCCAACTCTACAAAAAATACAAAAATTTAAAAATAAAATAAAATAGCACTTGTTTTATTCCTCTTTACAGTACTTATTACTATGGCATATTTGTTTACTTTTTTAGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAATGCAGTGGTGCCATCATAACTCACCATAGCCTTGAACTCCTGGGCTCAAGTGATTCTCTTGCCTCAGCCTCCCAATTAGCTGTCACTTAACAGGTGCAGGCCTGGCTAAGTTTTTTATTTTTGTAGAGATAAGGTCTCAATGTTGCCCTGGCTGGTCTCGAACTCCTGGCCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAATTGCTGAGATTACATGCATGAGCCACAGCGCCCGGCACGCCATGGGTTATTTATACAGTACATTTGTTTCTTGTCTCTCTCCCTGACTAGAATGTAAGCCCGTGGAAACACGACCTTGGTCTCATTTGTTCACTCGTAAATTTCCGGTTCCTGGAATAGAGCCCATCATGGTAAGTGCTTAATAATATTTGAGAATCGAATGAACAGGCTTGATAGGCAATTGTTGGTCCCAGAGATCAACTGGTTTTCCAAGACATCTGGCAACTTTATAGCAAACTCCTGCTCACTGAGTGAGCCCACTCAAGTGTAACGCTGAGGGACTGAAGGACGTGCAGGGCTGGAGAACAGGGATTGGGATTCTTTAACAATCCCCCACTGTCCAAAGGAAGAGCCCTGAGGCCCTGAGCCCCTTCACCTTTCCCTTTCCCCTCCTGCACACACCTCAGACCACCCCGGCACAGTGGGGCCATGCTACGCTAGCAAATGATGCTCCTGGCCAGGCACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTAATAAAAATACAAAAATTATCTGGGTGTCGTGGTGGGCGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGAGGGAGAATCACGTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCTGAAATCACGCCATTGCACTCCAGCCTGGGCTACAGAGTGAGACTCCGTCTCAAAAACAAAAAAACAAAACAAAACAAAAAAGAAAATGACGCTCCTGGGCTCCCCTGACTCAGACCTACTGACCTCTTCAGCCTCACTCTGGACCACTCTTCCCCTTCCCTCATTTAACCAGAGTGGTCTGACTGCTTCTGCCCAGTTCCTGGAAAACTCGGGGAGCACTCCTATCAATTGCCTTGCCTCTACTCCTCCAGTTCCCTACGTCTGAAATACAGCCCCACTCTCAGCCCCTACTCACTTTTTCAAGGCTAGCTCCTCTCATCCACCAGAGCTCAGCTAAAAAGCATCCCTTCCAGGAGATGTACTTTTTTCCTTTTTTGTAAAAACAAAAAACAAAAACAGTAATACCTACATACGGTCTGTAGAGTTGTACAAAGCATAGAAAGAAGTCTGTAACCACACACATCAACAGGTAGTTGGTAACTGATCACAGGGAGAAGGGCTGAGAAGGGAAAAAGGAAGGTAGACCTGTCGATAATTCTATACTGTTTGAATTTGTTATGGCAAAAAAAAAAAAAAAAAATCCCTAAAACTAGCCTTCAGAATTACCCTAGTTCTTGAATACTTGTAGTAGTGGGGGTGGGGGT
Task1_train_25533
Consider this mutation in LOC112533671, TSEN54 (Sharpr-MPRA regulatory region 12010| tRNA splicing endonuclease subunit 54) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Olivopontocerebellar hypoplasia
AGGCCGGGCCAGCAGCCTGTTCTCCACAGCCCGAGGCTCCGACACCCACAGACAACTGGCGGGCCAGGAGGTGGGGCCGGGAGGGTCAGGCACAGGCAGGCGGGCAGGGGTCACTCCCTGTCAAAGGCACCAGCCCCCAGATTCCTCCCTACGGAGGCTTCAAGGCTTCGCTTTAATGGCTGGATGCCCTAGTCCTAGGACTCTTTGTGAACGGAGAGCATGAAGTGCTTCTGGCCCCCCATTTCTGGGGGCTCTGCCTGCTAGAGAGGGAAGCTGCACAGCACCTGTTGCTGACCCGCCCTCGCCCCTTGTGTCGGGTGGAGGAGCAGCTGGGCAGAGAACAGAGAGAGCTGGGGCACTGCTGACAAACGGGGCTCCCAAGCCCCCCAAGCCTGAACCTGAAGCCCAGACCCTGGACTCCACCGCAGAGAAGCTTACGTCAGTTTCTCGGTGGCAGCGAATTTACTGCCAGAGTCTTGTGGCATGAGATCCGCGCAGGCCTGGGGCCCTGGCCGGGAACCCCTCACTCCCCAAACGTCCCAAGCCCAACCCAGGGGCACTCCCACGCGGAGCCCGCGGCCGACACGGGCGGAGGGCGCCCTTGGCAGTGCCTGGGGTCGGGCTGGCTCCCCCGCCCCCCGGAATGTCCCTCCAGCGCCTCGCAACCCCCCAGCCCAGCCCAGCCCAGCCCAGGCCCACCGGGGAACAAAGCGGCGGGAGAAGCCGGGCGGGCCAAGCGCCCGAGGTATAAACGCGGAGGATGGAAAAAGGGGCGCGAGGAGGACGGAAGGAGCGGGGAGATGGAGGTGCCCGCCGACCCCGCAAGAAAAGTTAGTTTGCGCCCGCCCCCAGGGGCGCTGACCCCCAGCGCGGGCCCCGCAGCCTCACCTCTCCCGGCCGCCCGCCGGGGTCCGGCTGGCCCTGCTCGGTCCCTGGCACTCAGGACGGTGGCTCCCACTCCCCCCTGCCCCCCTTTCTCCTTCTCCTTTTCCAAGGCCGGCTCGGCGCCTCCCGCAGGAAATCCCGCCCCTCCCCCCTCCCTCCCGCCGGATCGGGAACGGAGGGACCGTCCCGGCCGCGCAGTCAGGCTGTCAGTCAGCACCGGCGGCTCCGCCCCCATCCGCGCCAGATCCCGCCCCAACTCGTGCCCGCCCGGACCGGGGGCGCTGACCGGATCAGCGCATGCGCCCAGGTGAAACGGAGGGGCGGGGGGCGCGGGGGCAGAGGTGACCTGGGGCTCTGGACTTAGACCCAAGGGCTAGACACCCCGGGTCTGACTGGTGGGAGAGAAGACGTAATGTGAAGGGGGTTGGCAACCAAGACGCGGGACCCCACTTGCAGTACCCCCCGTCTGCGGCCGGCGTCGCCCACCCGCAGCCGCCGGCCGGGCAATGGCACCACCTAGCGGACGGCACCAGTGCGGGGACCCCAGCCTCGAGGAGGCGCTCGTGCCGGGCGGAGGTGGCGCTTCAGCACCGTCGTGGGCCGGACAGCGCCTCCCGCCCCCGGCCCTCGAAACCTGGCTTCGGAGCCCAGCCGTAGGGACCGGACGGAAGACACCGAAGGAATGGCGAACCTCCCCGGACCGCTCCTGACAGTTCCCGGGTGGCCTTCGGCCTGCAAAGTCGGAATTTGCACACCCTCCGCTCGTCCTTCCCTGAGCCCTTCTGCCCTCCTTGCCCAGCCCGGGCGGTGGGGACTAAGCAGCGCGAGGCTGCAGAGGGGCGGTCACAAGTGTGACCATTCGCACTGCACTCCAGACGCCGGCTCCTCAGGCTTTACTGGAGAGAAGCCCCGAGGAGGGCTAGGGGCAAAAGAGGGGCCTTCTGCATCTCCAGCAACCTGCGGGCTGAGCTCCCAGACCCGGCGTCGGGGTGCGCTTCCGGGCGGGCGCTAGGACCGGGGACAATCAGGAGGGCGCAGAGCGGGCTGGGGCGGTGCAGGGGGCGGGGCTGCCGCGGCATTGCGGATCGGCGGGCACTAGGGCAGCGCGGAGCTCCGGCGGTGGGCGGGGCGTGGCGGCGCGCGCAGCGGCAGGCGGCGGCGGGATGGAGCCCGAGCCCGAGCCCGCGGCCGTGGAGGTTCCCGCGGGGCGCGTGCTCAGGTGCGGCGCGGCCCGGCCGGAGTGGGTGTCGGGGGCGCGGGGCCAGCGCGGGTAGGGAAACCGGCGCCCGGGACCCGGCCAGGCGGCCCCCGATGCGCGGCGCTGACCCCGCGTCCCCTTCTCCCCCAGCGCCCGGGAGCTCTTCGCCGCCCGCTCGCGGTCGCAGAAGCTGCCCCAGCGCTCGCATGGCCCCAAGGACTTTCTGCCCGACGGCTCGGCAGCTCAGGCCGAGCGGCTGCGCCGGTGCCGGGAAGAGCTCTGGCAGCTGCTGGCAGAGCAGCGCGTGGAGCGCCTGTGAGAGGGGCGGGCCCAGGGGTAAGGGAAGCGGGGGCGAGGCGGGCCGCGGGGTCTCCGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAGAGGGCTTCGTGGAGTTGAAGTCTCCCGCGGTGAGCGGCGGGCTCGGGGACCGGGGACCGCCCTCCCTGCCCTCCCTGCCCTCCCTCCCTTGTGACACTTGCTCTGGGCCCCACACAGGGCAAATTCTGGCAGACCATGGGCTTCTCAGAGCAGGGCCGGCAGCGCCTTCACCCGGAAGAGGCCTTGTATCTTCTGGAGTGTGTAAGTGGGGCCCGGGAGGTGGGGAAGGAGTTGGGACCAAAGAACGGGAAGGACACGTTTTATCGGAGAAAAAGCACACACAACCCGGTCTTTAGAGAACTGATAACCAAACTTCTAAAGCAGGAGGTGGTACGTTGCAGGGAGCAGGGATTCCAGTCCACATTAGTGATGCTGCCCCACTTTCCTGGTTGGCCACATTCTTGATGCGCTGCTGAGAGGGGGAGGGGGAGGTATCAGAGCTGGGAAGTTGCCCCATTCCTCTGTGGCACTGTAGTGAGGGCTCATAAGCTGAGCTGTTGGCCCCACTTCCAGGGCTCCATCCACCTCTTCCACCAAGACCTGCCACTGTCTATCCAGGAAGCTTACCAGCTGCTGCTGACCGACCACACTGTGACCTTCCTGCAGTACCAGGTATCTGCCACCACCCCGCCTCCGGGAGCCACCCATCCACTGAATCAATGAGTATTGACAAGTACCCATAAGGTGCCAGGCACAGTGTCACATGCTGGGGCTGCAGGGCAGACGAGGGCTATGCTGTCACGAGGCTTACATTGTGGTGGTGGCCTGTTGGCTTCACATAGACCCCAGTGCTGTCAGAAGATAAGGTGGGGGAAGAGAATCCAAAGAGACTGGGCTGTTCATTCAGGTGAGAGAAGCTAGGGGCTTGTCGCAGGTTGGGGGTGGGTAGAGTTGCAGTGAGTGAAAAATAGATGAATCTCAGAAATATTTTGGAGAAAGAATGGATAGGACTGCCAATGGATTGGATGTCAGGATTAAGGAGAGAGAAGAACCCAGGATTACCGCCCATGATTTGGGCATGCACCAGTGGATGAAGGTGCTGTCATTTTCTGAGTGGGAAGAATGAAGAGGAGCAGATTTGGGAGGACAAGACCAGTCGAAAGAACTGTGTCAGATAAGTTAATTTTGAGGAGCTTCTTGGACATCCAAGTGAGTGTAAAGCAGACAGACAATTGGAATCCAAGTCTGGAGTGTGAGGAGAGGTCAAGGCTAGATGTAAATATGGGTGCCATGAGCACATGGATGGTATTTAAACTACTGGGCTGTATGGGAGTGCCATCAGAGTAGAGGGCTGGGTCTGAGCCCTGGGGCTCTCTGTGTAGGTTAGGGGGCAGATAAGAAGCAGAAACAGACCGAGGAGTGTCTGGTGATGCAGGAGAAAAACCAAAGTCGCATCACAGAAGCCAAAAGAAGGTCTTTCAAGGAGGAAGTGGTTAGCTGTGCTAAAGCCTGCTGAGATCAAGCAGGATGGGGGACATTCTTATCTATGTTCCTCTGATATGAATGCAGGGACACAAGGTTGAATATGTGGCTCCCTACCAGAAACTTCCCACCGGCATCTGTGG
AGGCCGGGCCAGCAGCCTGTTCTCCACAGCCCGAGGCTCCGACACCCACAGACAACTGGCGGGCCAGGAGGTGGGGCCGGGAGGGTCAGGCACAGGCAGGCGGGCAGGGGTCACTCCCTGTCAAAGGCACCAGCCCCCAGATTCCTCCCTACGGAGGCTTCAAGGCTTCGCTTTAATGGCTGGATGCCCTAGTCCTAGGACTCTTTGTGAACGGAGAGCATGAAGTGCTTCTGGCCCCCCATTTCTGGGGGCTCTGCCTGCTAGAGAGGGAAGCTGCACAGCACCTGTTGCTGACCCGCCCTCGCCCCTTGTGTCGGGTGGAGGAGCAGCTGGGCAGAGAACAGAGAGAGCTGGGGCACTGCTGACAAACGGGGCTCCCAAGCCCCCCAAGCCTGAACCTGAAGCCCAGACCCTGGACTCCACCGCAGAGAAGCTTACGTCAGTTTCTCGGTGGCAGCGAATTTACTGCCAGAGTCTTGTGGCATGAGATCCGCGCAGGCCTGGGGCCCTGGCCGGGAACCCCTCACTCCCCAAACGTCCCAAGCCCAACCCAGGGGCACTCCCACGCGGAGCCCGCGGCCGACACGGGCGGAGGGCGCCCTTGGCAGTGCCTGGGGTCGGGCTGGCTCCCCCGCCCCCCGGAATGTCCCTCCAGCGCCTCGCAACCCCCCAGCCCAGCCCAGCCCAGCCCAGGCCCACCGGGGAACAAAGCGGCGGGAGAAGCCGGGCGGGCCAAGCGCCCGAGGTATAAACGCGGAGGATGGAAAAAGGGGCGCGAGGAGGACGGAAGGAGCGGGGAGATGGAGGTGCCCGCCGACCCCGCAAGAAAAGTTAGTTTGCGCCCGCCCCCAGGGGCGCTGACCCCCAGCGCGGGCCCCGCAGCCTCACCTCTCCCGGCCGCCCGCCGGGGTCCGGCTGGCCCTGCTCGGTCCCTGGCACTCAGGACGGTGGCTCCCACTCCCCCCTGCCCCCCTTTCTCCTTCTCCTTTTCCAAGGCCGGCTCGGCGCCTCCCGCAGGAAATCCCGCCCCTCCCCCCTCCCTCCCGCCGGATCGGGAACGGAGGGACCGTCCCGGCCGCGCAGTCAGGCTGTCAGTCAGCACCGGCGGCTCCGCCCCCATCCGCGCCAGATCCCGCCCCAACTCGTGCCCGCCCGGACCGGGGGCGCTGACCGGATCAGCGCATGCGCCCAGGTGAAACGGAGGGGCGGGGGGCGCGGGGGCAGAGGTGACCTGGGGCTCTGGACTTAGACCCAAGGGCTAGACACCCCGGGTCTGACTGGTGGGAGAGAAGACGTAATGTGAAGGGGGTTGGCAACCAAGACGCGGGACCCCACTTGCAGTACCCCCCGTCTGCGGCCGGCGTCGCCCACCCGCAGCCGCCGGCCGGGCAATGGCACCACCTAGCGGACGGCACCAGTGCGGGGACCCCAGCCTCGAGGAGGCGCTCGTGCCGGGCGGAGGTGGCGCTTCAGCACCGTCGTGGGCCGGACAGCGCCTCCCGCCCCCGGCCCTCGAAACCTGGCTTCGGAGCCCAGCCGTAGGGACCGGACGGAAGACACCGAAGGAATGGCGAACCTCCCCGGACCGCTCCTGACAGTTCCCGGGTGGCCTTCGGCCTGCAAAGTCGGAATTTGCACACCCTCCGCTCGTCCTTCCCTGAGCCCTTCTGCCCTCCTTGCCCAGCCCGGGCGGTGGGGACTAAGCAGCGCGAGGCTGCAGAGGGGCGGTCACAAGTGTGACCATTCGCACTGCACTCCAGACGCCGGCTCCTCAGGCTTTACTGGAGAGAAGCCCCGAGGAGGGCTAGGGGCAAAAGAGGGGCCTTCTGCATCTCCAGCAACCTGCGGGCTGAGCTCCCAGACCCGGCGTCGGGGTGCGCTTCCGGGCGGGCGCTAGGACCGGGGACAATCAGGAGGGCGCAGAGCGGGCTGGGGCGGTGCAGGGGGCGGGGCTGCCGCGGCATTGCGGATCGGCGGGCACTAGGGCAGCGCGGAGCTCCGGCGGTGGGCGGGGCGTGGCGGCGCGCGCAGCGGCAGGCGGCGGCGGGCTGGAGCCCGAGCCCGAGCCCGCGGCCGTGGAGGTTCCCGCGGGGCGCGTGCTCAGGTGCGGCGCGGCCCGGCCGGAGTGGGTGTCGGGGGCGCGGGGCCAGCGCGGGTAGGGAAACCGGCGCCCGGGACCCGGCCAGGCGGCCCCCGATGCGCGGCGCTGACCCCGCGTCCCCTTCTCCCCCAGCGCCCGGGAGCTCTTCGCCGCCCGCTCGCGGTCGCAGAAGCTGCCCCAGCGCTCGCATGGCCCCAAGGACTTTCTGCCCGACGGCTCGGCAGCTCAGGCCGAGCGGCTGCGCCGGTGCCGGGAAGAGCTCTGGCAGCTGCTGGCAGAGCAGCGCGTGGAGCGCCTGTGAGAGGGGCGGGCCCAGGGGTAAGGGAAGCGGGGGCGAGGCGGGCCGCGGGGTCTCCGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAGAGGGCTTCGTGGAGTTGAAGTCTCCCGCGGTGAGCGGCGGGCTCGGGGACCGGGGACCGCCCTCCCTGCCCTCCCTGCCCTCCCTCCCTTGTGACACTTGCTCTGGGCCCCACACAGGGCAAATTCTGGCAGACCATGGGCTTCTCAGAGCAGGGCCGGCAGCGCCTTCACCCGGAAGAGGCCTTGTATCTTCTGGAGTGTGTAAGTGGGGCCCGGGAGGTGGGGAAGGAGTTGGGACCAAAGAACGGGAAGGACACGTTTTATCGGAGAAAAAGCACACACAACCCGGTCTTTAGAGAACTGATAACCAAACTTCTAAAGCAGGAGGTGGTACGTTGCAGGGAGCAGGGATTCCAGTCCACATTAGTGATGCTGCCCCACTTTCCTGGTTGGCCACATTCTTGATGCGCTGCTGAGAGGGGGAGGGGGAGGTATCAGAGCTGGGAAGTTGCCCCATTCCTCTGTGGCACTGTAGTGAGGGCTCATAAGCTGAGCTGTTGGCCCCACTTCCAGGGCTCCATCCACCTCTTCCACCAAGACCTGCCACTGTCTATCCAGGAAGCTTACCAGCTGCTGCTGACCGACCACACTGTGACCTTCCTGCAGTACCAGGTATCTGCCACCACCCCGCCTCCGGGAGCCACCCATCCACTGAATCAATGAGTATTGACAAGTACCCATAAGGTGCCAGGCACAGTGTCACATGCTGGGGCTGCAGGGCAGACGAGGGCTATGCTGTCACGAGGCTTACATTGTGGTGGTGGCCTGTTGGCTTCACATAGACCCCAGTGCTGTCAGAAGATAAGGTGGGGGAAGAGAATCCAAAGAGACTGGGCTGTTCATTCAGGTGAGAGAAGCTAGGGGCTTGTCGCAGGTTGGGGGTGGGTAGAGTTGCAGTGAGTGAAAAATAGATGAATCTCAGAAATATTTTGGAGAAAGAATGGATAGGACTGCCAATGGATTGGATGTCAGGATTAAGGAGAGAGAAGAACCCAGGATTACCGCCCATGATTTGGGCATGCACCAGTGGATGAAGGTGCTGTCATTTTCTGAGTGGGAAGAATGAAGAGGAGCAGATTTGGGAGGACAAGACCAGTCGAAAGAACTGTGTCAGATAAGTTAATTTTGAGGAGCTTCTTGGACATCCAAGTGAGTGTAAAGCAGACAGACAATTGGAATCCAAGTCTGGAGTGTGAGGAGAGGTCAAGGCTAGATGTAAATATGGGTGCCATGAGCACATGGATGGTATTTAAACTACTGGGCTGTATGGGAGTGCCATCAGAGTAGAGGGCTGGGTCTGAGCCCTGGGGCTCTCTGTGTAGGTTAGGGGGCAGATAAGAAGCAGAAACAGACCGAGGAGTGTCTGGTGATGCAGGAGAAAAACCAAAGTCGCATCACAGAAGCCAAAAGAAGGTCTTTCAAGGAGGAAGTGGTTAGCTGTGCTAAAGCCTGCTGAGATCAAGCAGGATGGGGGACATTCTTATCTATGTTCCTCTGATATGAATGCAGGGACACAAGGTTGAATATGTGGCTCCCTACCAGAAACTTCCCACCGGCATCTGTGG
Task1_train_25534
A variant was discovered on Chromosome 17, affecting ITGB4 (integrin subunit beta 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
CACTTGAATTTTGTCTGTTAGAGGGGGTCCTGCTGGTGGCTTGAAATAGACCACGACAGAAATGTTTACACCACAGAAATTGGCAAACGCTACACGTCAAGCACCAGAGACCAGAGCCGTTGTTATTTTTTTATTTAATTCAATGTATATGTAGAAACATGCTCTCACTCTGTCGTCCCGGTGAAATGCAGTGATGCCATCGTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTCCCACCTTAGCCTCCCATGTAGCTAGGACCACAGGCATGCACCACCATGCCTGGCTAATTAAAAACAATTTTTTTGTAGAGACAGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCTGAGCTTAAGCAATCTTCCTACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACTGGCCACCACAGCCATTGTTAAACACTGACCAGCACACCATTGCCTGAAGCCCAGGAGACCTCTTACTGTGTACACCAGGTGCACACAGTAGGTCCTCACTGTGATTTTTAACTGAGCAGAGCCAAAGGGAAATCTAGAGTTTTACTTCATTCGTTACTGAGGACCCACTGTGTGCCAGGTGTGCCGGGTGCTAGGGCTACCGTGATAAACAAGACACCATTCCCTTCACCCTAGAAGGGGCTCAGAGGACAGACAGGCCATGTGGCAGTGGTCTCGCCGTGAGGCACAAGCTGTGATGGAGGAGGTACCTGAAAAGGGTGCTAGGTGCAGCTCATCAAAGGTAATGGGGAAGGCTGAGGACCGTCTGGCTGGACCTGAGGAGGCAGCAGGCCAGGGGGTGGCCAGGGTGTGCCAGCACCGAGTGTGCCAGTGCCACTGTCTCAGTCCCCACCTTCTGTCCTTCTGGCTTGAGTGGGAAGTCCCAGGTTTGAAATCACAGCTTGTTTCTAGCTGTGCTACCTGGGGCAGATCACATACCCCTGGCCTCTGTAAAATAGGGAACGGCTGGGTGCAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCTCCTGAACCCAGGAATATGAGACCATCCTGAGCAACATAGGGAGCCCCTGTCTCTACATAAAATAAAAAATTAGCTGGGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGCCCAGGATGTCGAGACTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACCGTATCTCAAAACTAAATAAAATTGAAATGCAGGTTGGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGATTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGGAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCCCACCCATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGAAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTGAAAAATAAAGTAAAACAAAATAAAAATACAACAACAACAACAAACCAAAATAAATACATAAGGCCGGGCCCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCTCAGCTACTCCAGAGGCTGAGGTGGGAGAATGGCGTGAACACGGGTGGTGGAGCTTGCAGTGAGCCAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAACATAAGGAGGGAATCCCCATCTCTCCAGGTGAAGGTGCAGGTGGGAAAGTGCTTGCCTTTGCTGAGCGCCTCCCCATTCATGTGCCCACATCTGTCCCCCCAGCAAACCGCTGCAAGAAGGCCCCAGTGAAGAGCTGCACGGAGTGTGTCCGTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAG
CACTTGAATTTTGTCTGTTAGAGGGGGTCCTGCTGGTGGCTTGAAATAGACCACGACAGAAATGTTTACACCACAGAAATTGGCAAACGCTACACGTCAAGCACCAGAGACCAGAGCCGTTGTTATTTTTTTATTTAATTCAATGTATATGTAGAAACATGCTCTCACTCTGTCGTCCCGGTGAAATGCAGTGATGCCATCGTGGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGCAATCCTCCCACCTTAGCCTCCCATGTAGCTAGGACCACAGGCATGCACCACCATGCCTGGCTAATTAAAAACAATTTTTTTGTAGAGACAGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCTGAGCTTAAGCAATCTTCCTACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACTGGCCACCACAGCCATTGTTAAACACTGACCAGCACACCATTGCCTGAAGCCCAGGAGACCTCTTACTGTGTACACCAGGTGCACACAGTAGGTCCTCACTGTGATTTTTAACTGAGCAGAGCCAAAGGGAAATCTAGAGTTTTACTTCATTCGTTACTGAGGACCCACTGTGTGCCAGGTGTGCCGGGTGCTAGGGCTACCGTGATAAACAAGACACCATTCCCTTCACCCTAGAAGGGGCTCAGAGGACAGACAGGCCATGTGGCAGTGGTCTCGCCGTGAGGCACAAGCTGTGATGGAGGAGGTACCTGAAAAGGGTGCTAGGTGCAGCTCATCAAAGGTAATGGGGAAGGCTGAGGACCGTCTGGCTGGACCTGAGGAGGCAGCAGGCCAGGGGGTGGCCAGGGTGTGCCAGCACCGAGTGTGCCAGTGCCACTGTCTCAGTCCCCACCTTCTGTCCTTCTGGCTTGAGTGGGAAGTCCCAGGTTTGAAATCACAGCTTGTTTCTAGCTGTGCTACCTGGGGCAGATCACATACCCCTGGCCTCTGTAAAATAGGGAACGGCTGGGTGCAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCTCCTGAACCCAGGAATATGAGACCATCCTGAGCAACATAGGGAGCCCCTGTCTCTACATAAAATAAAAAATTAGCTGGGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGCCCAGGATGTCGAGACTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACCGTATCTCAAAACTAAATAAAATTGAAATGCAGGTTGGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGATTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGGAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCCCACCCATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGAAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTGAAAAATAAAGTAAAACAAAATAAAAATACAACAACAACAACAAACCAAAATAAATACATAAGGCCGGGCCCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCTCAGCTACTCCAGAGGCTGAGGTGGGAGAATGGCGTGAACACGGGTGGTGGAGCTTGCAGTGAGCCAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAACATAAGGAGGGAATCCCCATCTCTCCAGGTGAAGGTGCAGGTGGGAAAGTGCTTGCCTTTGCTGAGCGCCTCCCCATTCATGTGCCCACATCTGTCCCCCCAGCAAACCGCTGCAAGAAGGCCCCAGTGAAGAGCCGCACGGAGTGTGTCCGTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAG
Task1_train_25535
This sequence change occurs on Chromosome 17, altering ITGB4 (integrin subunit beta 4). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
CTACCGTGATAAACAAGACACCATTCCCTTCACCCTAGAAGGGGCTCAGAGGACAGACAGGCCATGTGGCAGTGGTCTCGCCGTGAGGCACAAGCTGTGATGGAGGAGGTACCTGAAAAGGGTGCTAGGTGCAGCTCATCAAAGGTAATGGGGAAGGCTGAGGACCGTCTGGCTGGACCTGAGGAGGCAGCAGGCCAGGGGGTGGCCAGGGTGTGCCAGCACCGAGTGTGCCAGTGCCACTGTCTCAGTCCCCACCTTCTGTCCTTCTGGCTTGAGTGGGAAGTCCCAGGTTTGAAATCACAGCTTGTTTCTAGCTGTGCTACCTGGGGCAGATCACATACCCCTGGCCTCTGTAAAATAGGGAACGGCTGGGTGCAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCTCCTGAACCCAGGAATATGAGACCATCCTGAGCAACATAGGGAGCCCCTGTCTCTACATAAAATAAAAAATTAGCTGGGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGCCCAGGATGTCGAGACTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACCGTATCTCAAAACTAAATAAAATTGAAATGCAGGTTGGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGATTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGGAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCCCACCCATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGAAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTGAAAAATAAAGTAAAACAAAATAAAAATACAACAACAACAACAAACCAAAATAAATACATAAGGCCGGGCCCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCTCAGCTACTCCAGAGGCTGAGGTGGGAGAATGGCGTGAACACGGGTGGTGGAGCTTGCAGTGAGCCAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAACATAAGGAGGGAATCCCCATCTCTCCAGGTGAAGGTGCAGGTGGGAAAGTGCTTGCCTTTGCTGAGCGCCTCCCCATTCATGTGCCCACATCTGTCCCCCCAGCAAACCGCTGCAAGAAGGCCCCAGTGAAGAGCTGCACGGAGTGTGTCCGTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTT
CTACCGTGATAAACAAGACACCATTCCCTTCACCCTAGAAGGGGCTCAGAGGACAGACAGGCCATGTGGCAGTGGTCTCGCCGTGAGGCACAAGCTGTGATGGAGGAGGTACCTGAAAAGGGTGCTAGGTGCAGCTCATCAAAGGTAATGGGGAAGGCTGAGGACCGTCTGGCTGGACCTGAGGAGGCAGCAGGCCAGGGGGTGGCCAGGGTGTGCCAGCACCGAGTGTGCCAGTGCCACTGTCTCAGTCCCCACCTTCTGTCCTTCTGGCTTGAGTGGGAAGTCCCAGGTTTGAAATCACAGCTTGTTTCTAGCTGTGCTACCTGGGGCAGATCACATACCCCTGGCCTCTGTAAAATAGGGAACGGCTGGGTGCAGTGGCTCACGCCTATAATTCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCTCCTGAACCCAGGAATATGAGACCATCCTGAGCAACATAGGGAGCCCCTGTCTCTACATAAAATAAAAAATTAGCTGGGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGCCCAGGATGTCGAGACTGCAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACCGTATCTCAAAACTAAATAAAATTGAAATGCAGGTTGGGCACAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATGATTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGGAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCCCACCCATTATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGAAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTGAAAAATAAAGTAAAACAAAATAAAAATACAACAACAACAACAAACCAAAATAAATACATAAGGCCGGGCCCGGTGGCTCCCACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCTCAGCTACTCCAGAGGCTGAGGTGGGAGAATGGCGTGAACACGGGTGGTGGAGCTTGCAGTGAGCCAGGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAACATAAGGAGGGAATCCCCATCTCTCCAGGTGAAGGTGCAGGTGGGAAAGTGCTTGCCTTTGCTGAGCGCCTCCCCATTCATGTGCCCACATCTGTCCCCCCAGCAAACCGCTGCAAGAAGGCCCCAGTGAAGAGCTGCACGGAGTGTGTCCGTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCCGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTT
Task1_train_25536
This alteration occurs within gene ITGB4 (integrin subunit beta 4) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
GGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTC
GGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGTCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTC
Task1_train_25537
This variant affects gene ITGB4 (integrin subunit beta 4) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
AGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGT
AGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCTGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGT
Task1_train_25538
A variant found in Chromosome 17 affects ITGB4 (integrin subunit beta 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCC
CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACGACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCC
Task1_train_25539
Here is a mutation in ITGB4 (integrin subunit beta 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Epidermolysis bullosa, junctional 5A, intermediate
CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCC
CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACGACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCC
Task1_train_25540
Gene ITGB4 (integrin subunit beta 4), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCC
CAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACGACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCC
Task1_train_25541
A variant on Chromosome 17 in gene ITGB4 (integrin subunit beta 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
GGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCCTTTGGTATTCTGAGTCCTGTGTCATATTGCCTGATCAGAAGAGAGCTCGTAAATGCACGGCAGTAAGGGCTTTAGCTTCAGGACACTGGGCGAGCTTGCCACAACTTGAGGCAGAGCAGTGGGGAAAGGACACTGGAAGGGGTGACATGACAGGGCACTGGGGTTTAGGTCTCAGCTCAGCCACTTCTGTCTGCATGACTGGGAGCTGCCTCGGCCCTCTCAGAGCCTCAGTTTCCTCATCTGTAAAATGGGACAGCAGGCCAGGCGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGCACCTAGAAGGCGGAGGTTGCCGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCTGTCTTGAAAAAAAATAAAATAAAATAGGCCAGGCGCGGTGGCTTACGCCTGTAATTTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGGCGAGACTCCGTCTCAAAAAAAAAAATAAAATAATTAAATTAAATTAAATTAAATGGGACAGCAAAAGCCCCAGCTTTCCTCCTGGGCTGTTTCGGGGAATGACCAGTTCCTCCTTCAGGAGTGGCCAGACCTGCAACTGCTCCACCGGCTCTCTGAGTGACATTCAGCCCTGCCTGCGGGAGGGCGAGGACAAGCCGTGCTCCGGCCGTGGGGAGTGCCAGTGCGGGCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGTTCTGCGAGTATGACAACTTCCAGTGTCCCCGCACTTCCGGGTTCCTCTGCAATGGTGAGCACAACAACTGCGGCCAATGCTGATGGCGGGGTAGGGAGTGGACAGCAAGCATGACTTTCCCGTCAGGACCCAGGTTGGGAGAGCCAGACTTGGAATCAGAATCCCCAAGTTCAGGCCCAGCCCACTCTGGATGCCCTGAGGGCCGCCCCTGAGTCCTGCCCCAACCTGGGCCTGACTTCCCTCATCTGTAACGTCCATGCCCAAGGTCACTGTTGGCAGGACTTTCCCCTGGTTTTAAGATTCCAACTCCCCTGAGGTTCTCTCTGGAAGTTCAGTTCTATGCCCACCCCACTTCTCCACACCCCTATCTCATTA
GGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTACGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCCTTTGGTATTCTGAGTCCTGTGTCATATTGCCTGATCAGAAGAGAGCTCGTAAATGCACGGCAGTAAGGGCTTTAGCTTCAGGACACTGGGCGAGCTTGCCACAACTTGAGGCAGAGCAGTGGGGAAAGGACACTGGAAGGGGTGACATGACAGGGCACTGGGGTTTAGGTCTCAGCTCAGCCACTTCTGTCTGCATGACTGGGAGCTGCCTCGGCCCTCTCAGAGCCTCAGTTTCCTCATCTGTAAAATGGGACAGCAGGCCAGGCGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGCACCTAGAAGGCGGAGGTTGCCGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCTGTCTTGAAAAAAAATAAAATAAAATAGGCCAGGCGCGGTGGCTTACGCCTGTAATTTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGGCGAGACTCCGTCTCAAAAAAAAAAATAAAATAATTAAATTAAATTAAATTAAATGGGACAGCAAAAGCCCCAGCTTTCCTCCTGGGCTGTTTCGGGGAATGACCAGTTCCTCCTTCAGGAGTGGCCAGACCTGCAACTGCTCCACCGGCTCTCTGAGTGACATTCAGCCCTGCCTGCGGGAGGGCGAGGACAAGCCGTGCTCCGGCCGTGGGGAGTGCCAGTGCGGGCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGTTCTGCGAGTATGACAACTTCCAGTGTCCCCGCACTTCCGGGTTCCTCTGCAATGGTGAGCACAACAACTGCGGCCAATGCTGATGGCGGGGTAGGGAGTGGACAGCAAGCATGACTTTCCCGTCAGGACCCAGGTTGGGAGAGCCAGACTTGGAATCAGAATCCCCAAGTTCAGGCCCAGCCCACTCTGGATGCCCTGAGGGCCGCCCCTGAGTCCTGCCCCAACCTGGGCCTGACTTCCCTCATCTGTAACGTCCATGCCCAAGGTCACTGTTGGCAGGACTTTCCCCTGGTTTTAAGATTCCAACTCCCCTGAGGTTCTCTCTGGAAGTTCAGTTCTATGCCCACCCCACTTCTCCACACCCCTATCTCATTA
Task1_train_25542
Here is a mutation in ITGB4 (integrin subunit beta 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
AGCTCAGCCCTCCAATGGCTGGCAGGTATATGGCATTATGATCTTTCCTCTCTCCAAAGATGCTAAATTTCTGTGGGTTTTTTGTTGTTGTTGCTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATAGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAGGTGGGACTATAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTACACATCTGTAATCACACCTGGGATTACAGGTGTGAGCCACTGAGCCCGGCCCAAAGATGCTAAATTTCTACCTGGAAGGCCTGGAGCTTCCTCTGTATTCCCATGGGTCCAGGCCATAGGCATACAGTCTGGCCAGGAACATCAGAGCTGGGCAGGATCACAGAACTCAGACAAGGGGACATAGGGAAGGATTGGTAGTTGAATGGAGGAGGATGAATGAAAATCTACTCATCAAATACTTATGAAGCCCTCACTGTATACTTTCCAAGCCCCTGCTTTTCTACTCTTTCTTCTGTTCTTGCTTTTGTTCACCATTTCTTCTCTTCGACTGTCTGTCCCTGAGTGTGCTCAGAGAAACAGAAGAGAGAACTGGGCACCACTGGAGAAAGGCAGACAAGTGGCACAGAGGGAGGTATGAGAGAGGAAGGGAGGAAGGTGCCTCTGGGGAAGGAGGCAGGGCCAGAGTACAAAGGGCTTCGGTTCTAGTCCAGAGCAGGACTTCATCCTTTGGACAAAAGGGGGTCACTGGAGGTTTTACTTTCATTTTCTAACTATTTGCATATTAACCTTGTATCTAGTCACCTTGCTAAACGCACTTATGAAATCTAATAATTTGTCTGTAGATTCTTCTGGATACTTTGTGACATGTTCCTCACACTTGCAAATAAAGACAATTTTATTGATTGATTGATTGATTGATTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGGGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTGGAAATAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGATGGTCTCAGTCTCTTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGACTTATTTCTTACCTTCTAATGCTTATACATCTTATTTCTTTTTCTGACCTTATTGCATTGGCAGGGACCCATTAGAGGTTCTTAGCCAGGGGAGCAGGAGCCACATGATTGGATTTGTTTTGAGATAATTACTCAGGCTGCAGAGTGGAAGGTAGGTAGGATGGAGGCAGAGATGGAGGGAAGGAGATTCCAGGAAAGTGAGGAAGAGATGACTTCTACCCCAGGCTAGCGGCACCCTGGCTCCCACAGCTCTGTTCCCACAGGCCCTCCCTGCCAGGTGGGCAGCCTGGACTACAGGCACAGATGTAGCTCTCATCTCCCTTCCTTGTCCCTCTCTGCAGACCGAGGACGCTGCTCCATGGGCCAGTGTGTGTGTGAGCCTGGTTGGACAGGCCCAAGCTGTGACTGTCCCCTCAGCAATGCCACCTGCATCGACAGCAATGGGGTAGGCCTGGGCATAAGACAGACAGTGTCTGTCAGCACCACCCACCCTCTCCAGAGAGAACCCTATGGAGAGAGGAGAGGGAGCAGGCAGGGATGGGGCACAGCTGGCTCACTGGTGCCCCCTCCTACCCCAGGGCATCTGTAATGGACGTGGCCACTGTGAGTGTGGCCGCTGCCACTGCCACCAGCAGTCGCTCTACACGGACACCATCTGCGAGATCAACTACTCGGCGGTGAGGCTAAGACCTACGAGGTGTGGGCGTGGGAACAGGGCAGGCACAGGGCAGTGTGGGCAGGAGGGGCTAAGCCTGATGCCACAGGAGCTGGCCAAGGGCAAGAGGTTTGGGGAGCGGGGGTCTGGCAGAGGCCCACCCAACACAGTGCCTGTCTGCCCCGCCTTTCCCCGCCAAGATCCACCCGGGCCTCTGCGAGGACCTACGCTCCTGCGTGCAGTGCCAGGCGTGGGGCACCGGCGAGAAGAAGGGGCGCACGTGTGAGGAATGCAACTTCAAGGTCAAGATGGTGGACGAGCTTAAGAGAGGTAGGGGCAGGGGCTGAGGGTTGGGGTTGCTGAGAGCCTAGGCAGCGGGCATCCAACGGGGCAAGGGTGTCATCACCTGGACGGGGGCTTGCAGTCTGGGCTAAGGTCACACAGTCCGGACAGGAACTCCAGAGCTGGGAGGGACCACAGAACCCAGATAGAGGACACCGAATCCCAGAAAAGGGTAAAAGCCTGAGCAGGAGGCACAGAACCCAGGCGGTGGGACACAGTCTGGCCCAGGAAGGGACCAAGAGTCTTGGTGGGAGGCACCTGACTTGGGCAGGGGCATGCACCCAGCAGGGGTACATGGTCACGCTGTGGAGACACGCAGCCTCCCCTCCTCGAGATCAGATACGTTTTCTGGACCCTGAGTTCCTGGGTGATGTCCAGGTCAGGGAAGTGGGGGAGGTAGGTTTCTAGGCTCTGATGCTCCTGAGCAGGGGAGCCCCCACCACACCCGTTCCTGTGCCTGGTGAGAGCACGGCTTTGCAAGGACTTCCACTCTTCCCCAGGAGGCCCTGCCGTGGGTGAGGCAGATCGCAGAGTAGGGGCCCCCTCACCAGACCCTGGGTCCTCTGGGGCGGAGGGGTGTGGCTGGGGTGCCCTGCTGACTGGCTGTGGGTACAGCCGAGGAGGTGGTGGTGCGCTGCTCCTTCCGGGACGAGGATGACGACTGCACCTACAGCTACACCATGGAAGGTGACGGCGCCCCTGGGCCCAACAGCACTGTCCTGGTGCACAAGAAGAAGGGTGAGCTGGTGGGGCCGGGCGCAGGGAGGGGGCGTGTGGCCAGAGCTCGGTGGGGAGGACAGGCACCACCTCCCCCTGCCTCCTCCTCTCCAGACTGCCCTCCGGGCTCCTTCTGGTGGCTCATCCCCCTGCTCCTCCTCCTCCTGCCGCTCCTGGCCCTGCTACTGCTGCTATGCTGGAAGTACTGTGCCTGCTGCAAGGTGAGCACCCAGGGTGCCTCCCAAGGCCCCACATCCCAGGGTCCCCACCCCAACAGGGCCCCCACCCTCCACCAGGGTCCCCAGTCCCCGCCTGAGTTCTCATCTCCCCAGGGTCCCCAACCCCTTCCTGGGTCCCCACCTCCCCAGGGTCCCCATCCCAACAGGGTCCCCATCCTCCACCACGGTCCCCACCTCCCCAGTGTCCTCAACCCCCTCCTGGGTCCCCACCTCACCAGGGTCCCCTCTCTGACAGGGTCTCCACCCTCCATCAGGGTCCTCCTCAGGGTCCCCAACCCCCACCAGGGTCCCCAGCCTCTCCACCCACCATCCCCACTCCTGCAGCTTTCTAGCCAGAGGCTTCAGCCCGTAGAGTCCAGCTGTCTGGATTCTGGTCCCAGCTCTGTGACCTTGGGCAAATTACTTAATCTCTCCATGCCTCAGTTCCCTCATCTGTAAAATGAAGATCATAGAATTGACCTC
AGCTCAGCCCTCCAATGGCTGGCAGGTATATGGCATTATGATCTTTCCTCTCTCCAAAGATGCTAAATTTCTGTGGGTTTTTTGTTGTTGTTGCTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATAGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAGGTGGGACTATAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTACACATCTGTAATCACACCTGGGATTACAGGTGTGAGCCACTGAGCCCGGCCCAAAGATGCTAAATTTCTACCTGGAAGGCCTGGAGCTTCCTCTGTATTCCCATGGGTCCAGGCCATAGGCATACAGTCTGGCCAGGAACATCAGAGCTGGGCAGGATCACAGAACTCAGACAAGGGGACATAGGGAAGGATTGGTAGTTGAATGGAGGAGGATGAATGAAAATCTACTCATCAAATACTTATGAAGCCCTCACTGTATACTTTCCAAGCCCCTGCTTTTCTACTCTTTCTTCTGTTCTTGCTTTTGTTCACCATTTCTTCTCTTCGACTGTCTGTCCCTGAGTGTGCTCAGAGAAACAGAAGAGAGAACTGGGCACCACTGGAGAAAGGCAGACAAGTGGCACAGAGGGAGGTATGAGAGAGGAAGGGAGGAAGGTGCCTCTGGGGAAGGAGGCAGGGCCAGAGTACAAAGGGCTTCGGTTCTAGTCCAGAGCAGGACTTCATCCTTTGGACAAAAGGGGGTCACTGGAGGTTTTACTTTCATTTTCTAACTATTTGCATATTAACCTTGTATCTAGTCACCTTGCTAAACGCACTTATGAAATCTAATAATTTGTCTGTAGATTCTTCTGGATACTTTGTGACATGTTCCTCACACTTGCAAATAAAGACAATTTTATTGATTGATTGATTGATTGATTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGGGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTGGAAATAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGATGGTCTCAGTCTCTTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGACTTATTTCTTACCTTCTAATGCTTATACATCTTATTTCTTTTTCTGACCTTATTGCATTGGCAGGGACCCATTAGAGGTTCTTAGCCAGGGGAGCAGGAGCCACATGATTGGATTTGTTTTGAGATAATTACTCAGGCTGCAGAGTGGAAGGTAGGTAGGATGGAGGCAGAGATGGAGGGAAGGAGATTCCAGGAAAGTGAGGAAGAGATGACTTCTACCCCAGGCTAGCGGCACCCTGGCTCCCACAGCTCTGTTCCCACAGGCCCTCCCTGCCAGGTGGGCAGCCTGGACTACAGGCACAGATGTAGCTCTCATCTCCCTTCCTTGTCCCTCTCTGCAGACCGAGGACGCTGCTCCATGGGCCAGCGTGTGTGTGAGCCTGGTTGGACAGGCCCAAGCTGTGACTGTCCCCTCAGCAATGCCACCTGCATCGACAGCAATGGGGTAGGCCTGGGCATAAGACAGACAGTGTCTGTCAGCACCACCCACCCTCTCCAGAGAGAACCCTATGGAGAGAGGAGAGGGAGCAGGCAGGGATGGGGCACAGCTGGCTCACTGGTGCCCCCTCCTACCCCAGGGCATCTGTAATGGACGTGGCCACTGTGAGTGTGGCCGCTGCCACTGCCACCAGCAGTCGCTCTACACGGACACCATCTGCGAGATCAACTACTCGGCGGTGAGGCTAAGACCTACGAGGTGTGGGCGTGGGAACAGGGCAGGCACAGGGCAGTGTGGGCAGGAGGGGCTAAGCCTGATGCCACAGGAGCTGGCCAAGGGCAAGAGGTTTGGGGAGCGGGGGTCTGGCAGAGGCCCACCCAACACAGTGCCTGTCTGCCCCGCCTTTCCCCGCCAAGATCCACCCGGGCCTCTGCGAGGACCTACGCTCCTGCGTGCAGTGCCAGGCGTGGGGCACCGGCGAGAAGAAGGGGCGCACGTGTGAGGAATGCAACTTCAAGGTCAAGATGGTGGACGAGCTTAAGAGAGGTAGGGGCAGGGGCTGAGGGTTGGGGTTGCTGAGAGCCTAGGCAGCGGGCATCCAACGGGGCAAGGGTGTCATCACCTGGACGGGGGCTTGCAGTCTGGGCTAAGGTCACACAGTCCGGACAGGAACTCCAGAGCTGGGAGGGACCACAGAACCCAGATAGAGGACACCGAATCCCAGAAAAGGGTAAAAGCCTGAGCAGGAGGCACAGAACCCAGGCGGTGGGACACAGTCTGGCCCAGGAAGGGACCAAGAGTCTTGGTGGGAGGCACCTGACTTGGGCAGGGGCATGCACCCAGCAGGGGTACATGGTCACGCTGTGGAGACACGCAGCCTCCCCTCCTCGAGATCAGATACGTTTTCTGGACCCTGAGTTCCTGGGTGATGTCCAGGTCAGGGAAGTGGGGGAGGTAGGTTTCTAGGCTCTGATGCTCCTGAGCAGGGGAGCCCCCACCACACCCGTTCCTGTGCCTGGTGAGAGCACGGCTTTGCAAGGACTTCCACTCTTCCCCAGGAGGCCCTGCCGTGGGTGAGGCAGATCGCAGAGTAGGGGCCCCCTCACCAGACCCTGGGTCCTCTGGGGCGGAGGGGTGTGGCTGGGGTGCCCTGCTGACTGGCTGTGGGTACAGCCGAGGAGGTGGTGGTGCGCTGCTCCTTCCGGGACGAGGATGACGACTGCACCTACAGCTACACCATGGAAGGTGACGGCGCCCCTGGGCCCAACAGCACTGTCCTGGTGCACAAGAAGAAGGGTGAGCTGGTGGGGCCGGGCGCAGGGAGGGGGCGTGTGGCCAGAGCTCGGTGGGGAGGACAGGCACCACCTCCCCCTGCCTCCTCCTCTCCAGACTGCCCTCCGGGCTCCTTCTGGTGGCTCATCCCCCTGCTCCTCCTCCTCCTGCCGCTCCTGGCCCTGCTACTGCTGCTATGCTGGAAGTACTGTGCCTGCTGCAAGGTGAGCACCCAGGGTGCCTCCCAAGGCCCCACATCCCAGGGTCCCCACCCCAACAGGGCCCCCACCCTCCACCAGGGTCCCCAGTCCCCGCCTGAGTTCTCATCTCCCCAGGGTCCCCAACCCCTTCCTGGGTCCCCACCTCCCCAGGGTCCCCATCCCAACAGGGTCCCCATCCTCCACCACGGTCCCCACCTCCCCAGTGTCCTCAACCCCCTCCTGGGTCCCCACCTCACCAGGGTCCCCTCTCTGACAGGGTCTCCACCCTCCATCAGGGTCCTCCTCAGGGTCCCCAACCCCCACCAGGGTCCCCAGCCTCTCCACCCACCATCCCCACTCCTGCAGCTTTCTAGCCAGAGGCTTCAGCCCGTAGAGTCCAGCTGTCTGGATTCTGGTCCCAGCTCTGTGACCTTGGGCAAATTACTTAATCTCTCCATGCCTCAGTTCCCTCATCTGTAAAATGAAGATCATAGAATTGACCTC
Task1_train_25543
A genetic alteration is present in ITGB4 (integrin subunit beta 4) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
CCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGATGGTCTCAGTCTCTTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGACTTATTTCTTACCTTCTAATGCTTATACATCTTATTTCTTTTTCTGACCTTATTGCATTGGCAGGGACCCATTAGAGGTTCTTAGCCAGGGGAGCAGGAGCCACATGATTGGATTTGTTTTGAGATAATTACTCAGGCTGCAGAGTGGAAGGTAGGTAGGATGGAGGCAGAGATGGAGGGAAGGAGATTCCAGGAAAGTGAGGAAGAGATGACTTCTACCCCAGGCTAGCGGCACCCTGGCTCCCACAGCTCTGTTCCCACAGGCCCTCCCTGCCAGGTGGGCAGCCTGGACTACAGGCACAGATGTAGCTCTCATCTCCCTTCCTTGTCCCTCTCTGCAGACCGAGGACGCTGCTCCATGGGCCAGTGTGTGTGTGAGCCTGGTTGGACAGGCCCAAGCTGTGACTGTCCCCTCAGCAATGCCACCTGCATCGACAGCAATGGGGTAGGCCTGGGCATAAGACAGACAGTGTCTGTCAGCACCACCCACCCTCTCCAGAGAGAACCCTATGGAGAGAGGAGAGGGAGCAGGCAGGGATGGGGCACAGCTGGCTCACTGGTGCCCCCTCCTACCCCAGGGCATCTGTAATGGACGTGGCCACTGTGAGTGTGGCCGCTGCCACTGCCACCAGCAGTCGCTCTACACGGACACCATCTGCGAGATCAACTACTCGGCGGTGAGGCTAAGACCTACGAGGTGTGGGCGTGGGAACAGGGCAGGCACAGGGCAGTGTGGGCAGGAGGGGCTAAGCCTGATGCCACAGGAGCTGGCCAAGGGCAAGAGGTTTGGGGAGCGGGGGTCTGGCAGAGGCCCACCCAACACAGTGCCTGTCTGCCCCGCCTTTCCCCGCCAAGATCCACCCGGGCCTCTGCGAGGACCTACGCTCCTGCGTGCAGTGCCAGGCGTGGGGCACCGGCGAGAAGAAGGGGCGCACGTGTGAGGAATGCAACTTCAAGGTCAAGATGGTGGACGAGCTTAAGAGAGGTAGGGGCAGGGGCTGAGGGTTGGGGTTGCTGAGAGCCTAGGCAGCGGGCATCCAACGGGGCAAGGGTGTCATCACCTGGACGGGGGCTTGCAGTCTGGGCTAAGGTCACACAGTCCGGACAGGAACTCCAGAGCTGGGAGGGACCACAGAACCCAGATAGAGGACACCGAATCCCAGAAAAGGGTAAAAGCCTGAGCAGGAGGCACAGAACCCAGGCGGTGGGACACAGTCTGGCCCAGGAAGGGACCAAGAGTCTTGGTGGGAGGCACCTGACTTGGGCAGGGGCATGCACCCAGCAGGGGTACATGGTCACGCTGTGGAGACACGCAGCCTCCCCTCCTCGAGATCAGATACGTTTTCTGGACCCTGAGTTCCTGGGTGATGTCCAGGTCAGGGAAGTGGGGGAGGTAGGTTTCTAGGCTCTGATGCTCCTGAGCAGGGGAGCCCCCACCACACCCGTTCCTGTGCCTGGTGAGAGCACGGCTTTGCAAGGACTTCCACTCTTCCCCAGGAGGCCCTGCCGTGGGTGAGGCAGATCGCAGAGTAGGGGCCCCCTCACCAGACCCTGGGTCCTCTGGGGCGGAGGGGTGTGGCTGGGGTGCCCTGCTGACTGGCTGTGGGTACAGCCGAGGAGGTGGTGGTGCGCTGCTCCTTCCGGGACGAGGATGACGACTGCACCTACAGCTACACCATGGAAGGTGACGGCGCCCCTGGGCCCAACAGCACTGTCCTGGTGCACAAGAAGAAGGGTGAGCTGGTGGGGCCGGGCGCAGGGAGGGGGCGTGTGGCCAGAGCTCGGTGGGGAGGACAGGCACCACCTCCCCCTGCCTCCTCCTCTCCAGACTGCCCTCCGGGCTCCTTCTGGTGGCTCATCCCCCTGCTCCTCCTCCTCCTGCCGCTCCTGGCCCTGCTACTGCTGCTATGCTGGAAGTACTGTGCCTGCTGCAAGGTGAGCACCCAGGGTGCCTCCCAAGGCCCCACATCCCAGGGTCCCCACCCCAACAGGGCCCCCACCCTCCACCAGGGTCCCCAGTCCCCGCCTGAGTTCTCATCTCCCCAGGGTCCCCAACCCCTTCCTGGGTCCCCACCTCCCCAGGGTCCCCATCCCAACAGGGTCCCCATCCTCCACCACGGTCCCCACCTCCCCAGTGTCCTCAACCCCCTCCTGGGTCCCCACCTCACCAGGGTCCCCTCTCTGACAGGGTCTCCACCCTCCATCAGGGTCCTCCTCAGGGTCCCCAACCCCCACCAGGGTCCCCAGCCTCTCCACCCACCATCCCCACTCCTGCAGCTTTCTAGCCAGAGGCTTCAGCCCGTAGAGTCCAGCTGTCTGGATTCTGGTCCCAGCTCTGTGACCTTGGGCAAATTACTTAATCTCTCCATGCCTCAGTTCCCTCATCTGTAAAATGAAGATCATAGAATTGACCTCAGAAAGTGGAGCTGAAGCTTAAATTAGTGAAGTTCAGAAGGGACTGACCCATAGCATGCACCATCGCCCCCACCCCCACCTTGGCAAGACCCACACCAACCCCATCCAGCTTCCGGAGTGACAGTAATGATGATGACACCCATGAGCTCTTAGCCCGAGTCATCCTGGAGCCCCAGCCCCCAGCTCAGCCCTTGCCAGCATCCGTTCTCTGCTTAGCTCAGTGTTCCTCTTTGTGCTGTCGCCACAGCATGTCCACGTGACTCCATTTCCCCGCCCCCCATCACCCCATGAGGTCAGTGGGGCAAGGTCACCATGCCCTATGACAGATGGAGAAATTGGGGCTGAGAGGCAGGTGATAAATGCACAGTCCTCAGAAGGGGCTGAGGCAAGCTGAGCCCACATCTTCCCCAGCTCTAGTGCCCGCCCAGGACCCCCACTCCATCAGCCATCAGTGGCCAGATCCCTGAGAGCACCTGCTCTGGGGTCAGCCACGTGCAAAAGGCCTGGGAGCCACAACAGGGAAGAAAGGGCCCTGCCCGCCCGCAGCTGGCGGTCACTGGGGAGAACAGACAAGAGAAAGCGTGGAGGATGGCATAGCTCAGAGTAGGGATTGTAGGCGGCAGACCACACTCCGTAGTAACCCCCAGTGTTGTGGGATATTAATGTGCATTACATAGGCAAGGAGTTATGTGATCAAATAGGTTTGAGCTAGGCACGGCTGCGCGTGCCTGTAGTCCCAGCTACTCAGAAAGCTGAGGCAGGAGGATCACGAGTCTGGGAGTTTGAGGCTACAGTGAGCTATGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAAAAAGAAAAAAAAAAAGAAGGTTTAAGAAACAAGTTTCTTAAATTTAAGTTACAGTGGCTCACACTTGTAACCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTGGAGACAAGCCCGGCCAATATGGTGACACCCCATCTCTACTAGAAATACAAAATTAGCTGGGCATGGAGGTGGATGCCTATAATCCCAGTTACTAGGGGGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGCGATCGTGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAACAAGTTTCTTCTCTGCAGGACTTCTCAGAGGCTTTGATAAAGTCCTGTGCCTAACCTGCAAGAGGGGCATGGG
CCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGATGGTCTCAGTCTCTTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTTGCCTGGACTTATTTCTTACCTTCTAATGCTTATACATCTTATTTCTTTTTCTGACCTTATTGCATTGGCAGGGACCCATTAGAGGTTCTTAGCCAGGGGAGCAGGAGCCACATGATTGGATTTGTTTTGAGATAATTACTCAGGCTGCAGAGTGGAAGGTAGGTAGGATGGAGGCAGAGATGGAGGGAAGGAGATTCCAGGAAAGTGAGGAAGAGATGACTTCTACCCCAGGCTAGCGGCACCCTGGCTCCCACAGCTCTGTTCCCACAGGCCCTCCCTGCCAGGTGGGCAGCCTGGACTACAGGCACAGATGTAGCTCTCATCTCCCTTCCTTGTCCCTCTCTGCAGACCGAGGACGCTGCTCCATGGGCCAGTGTGTGTGTGAGCCTGGTTGGACAGGCCCAAGCTGTGACTGTCCCCTCAGCAATGCCACCTGCATCGACAGCAATGGGGTAGGCCTGGGCATAAGACAGACAGTGTCTGTCAGCACCACCCACCCTCTCCAGAGAGAACCCTATGGAGAGAGGAGAGGGAGCAGGCAGGGATGGGGCACAGCTGGCTCACTGGTGCCCCCTCCTACCCCAGGGCATCTGTAATGGACGTGGCCACTGTGAGTGTGGCCGCTGCCACTGCCACCAGCAGTCGCTCTACACGGACACCATCTGCGAGATCAACTACTCGGCGGTGAGGCTAAGACCTACGAGGTGTGGGCGTGGGAACAGGGCAGGCACAGGGCAGTGTGGGCAGGAGGGGCTAAGCCTGATGCCACAGGAGCTGGCCAAGGGCAAGAGGTTTGGGGAGCGGGGGTCTGGCAGAGGCCCACCCAACACAGTGCCTGTCTGCCCCGCCTTTCCCCGCCAAGATCCACCCGGGCCTCTGCGAGGACCTACGCTCCTGCGTGCAGTGCCAGGCGTGGGGCACCGGCGAGAAGAAGGGGCGCACGTGTGAGGAATGCAACTTCAAGGTCAAGATGGTGGACGAGCTTAAGAGAGGTAGGGGCAGGGGCTGAGGGTTGGGGTTGCTGAGAGCCTAGGCAGCGGGCATCCAACGGGGCAAGGGTGTCATCACCTGGACGGGGGCTTGCAGTCTGGGCTAAGGTCACACAGTCCGGACAGGAACTCCAGAGCTGGGAGGGACCACAGAACCCAGATAGAGGACACCGAATCCCAGAAAAGGGTAAAAGCCTGAGCAGGAGGCACAGAACCCAGGCGGTGGGACACAGTCTGGCCCAGGAAGGGACCAAGAGTCTTGGTGGGAGGCACCTGACTTGGGCAGGGGCATGCACCCAGCAGGGGTACATGGTCACGCTGTGGAGACACGCAGCCTCCCCTCCTCGAGATCAGATACGTTTTCTGGACCCTGAGTTCCTGGGTGATGTCCAGGTCAGGGAAGTGGGGGAGGTAGGTTTCTAGGCTCTGATGCTCCTGAGCAGGGGAGCCCCCACCACACCCGTTCCTGTGCCTGGTGAGAGCACGGCTTTGCAAGGACTTCCACTCTTCCCCAGGAGGCCCTGCCGTGGGTGAGGCAGATCGCAGAGTAGGGGCCCCCTCACCAGACCCTGGGTCCTCTGGGGCGGAGGGGTGTGGCTGGGGTGCCCTGCTGACTGGCTGTGGGTACAGCCGAGGAGGTGGTGGTGCGCTCCTCCTTCCGGGACGAGGATGACGACTGCACCTACAGCTACACCATGGAAGGTGACGGCGCCCCTGGGCCCAACAGCACTGTCCTGGTGCACAAGAAGAAGGGTGAGCTGGTGGGGCCGGGCGCAGGGAGGGGGCGTGTGGCCAGAGCTCGGTGGGGAGGACAGGCACCACCTCCCCCTGCCTCCTCCTCTCCAGACTGCCCTCCGGGCTCCTTCTGGTGGCTCATCCCCCTGCTCCTCCTCCTCCTGCCGCTCCTGGCCCTGCTACTGCTGCTATGCTGGAAGTACTGTGCCTGCTGCAAGGTGAGCACCCAGGGTGCCTCCCAAGGCCCCACATCCCAGGGTCCCCACCCCAACAGGGCCCCCACCCTCCACCAGGGTCCCCAGTCCCCGCCTGAGTTCTCATCTCCCCAGGGTCCCCAACCCCTTCCTGGGTCCCCACCTCCCCAGGGTCCCCATCCCAACAGGGTCCCCATCCTCCACCACGGTCCCCACCTCCCCAGTGTCCTCAACCCCCTCCTGGGTCCCCACCTCACCAGGGTCCCCTCTCTGACAGGGTCTCCACCCTCCATCAGGGTCCTCCTCAGGGTCCCCAACCCCCACCAGGGTCCCCAGCCTCTCCACCCACCATCCCCACTCCTGCAGCTTTCTAGCCAGAGGCTTCAGCCCGTAGAGTCCAGCTGTCTGGATTCTGGTCCCAGCTCTGTGACCTTGGGCAAATTACTTAATCTCTCCATGCCTCAGTTCCCTCATCTGTAAAATGAAGATCATAGAATTGACCTCAGAAAGTGGAGCTGAAGCTTAAATTAGTGAAGTTCAGAAGGGACTGACCCATAGCATGCACCATCGCCCCCACCCCCACCTTGGCAAGACCCACACCAACCCCATCCAGCTTCCGGAGTGACAGTAATGATGATGACACCCATGAGCTCTTAGCCCGAGTCATCCTGGAGCCCCAGCCCCCAGCTCAGCCCTTGCCAGCATCCGTTCTCTGCTTAGCTCAGTGTTCCTCTTTGTGCTGTCGCCACAGCATGTCCACGTGACTCCATTTCCCCGCCCCCCATCACCCCATGAGGTCAGTGGGGCAAGGTCACCATGCCCTATGACAGATGGAGAAATTGGGGCTGAGAGGCAGGTGATAAATGCACAGTCCTCAGAAGGGGCTGAGGCAAGCTGAGCCCACATCTTCCCCAGCTCTAGTGCCCGCCCAGGACCCCCACTCCATCAGCCATCAGTGGCCAGATCCCTGAGAGCACCTGCTCTGGGGTCAGCCACGTGCAAAAGGCCTGGGAGCCACAACAGGGAAGAAAGGGCCCTGCCCGCCCGCAGCTGGCGGTCACTGGGGAGAACAGACAAGAGAAAGCGTGGAGGATGGCATAGCTCAGAGTAGGGATTGTAGGCGGCAGACCACACTCCGTAGTAACCCCCAGTGTTGTGGGATATTAATGTGCATTACATAGGCAAGGAGTTATGTGATCAAATAGGTTTGAGCTAGGCACGGCTGCGCGTGCCTGTAGTCCCAGCTACTCAGAAAGCTGAGGCAGGAGGATCACGAGTCTGGGAGTTTGAGGCTACAGTGAGCTATGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAAAAAGAAAAAAAAAAAGAAGGTTTAAGAAACAAGTTTCTTAAATTTAAGTTACAGTGGCTCACACTTGTAACCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTGGAGACAAGCCCGGCCAATATGGTGACACCCCATCTCTACTAGAAATACAAAATTAGCTGGGCATGGAGGTGGATGCCTATAATCCCAGTTACTAGGGGGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGCGATCGTGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAACAAGTTTCTTCTCTGCAGGACTTCTCAGAGGCTTTGATAAAGTCCTGTGCCTAACCTGCAAGAGGGGCATGGG
Task1_train_25544
Chromosome 17 houses a mutation in gene ITGB4 (integrin subunit beta 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
GTTCTCTGCTTAGCTCAGTGTTCCTCTTTGTGCTGTCGCCACAGCATGTCCACGTGACTCCATTTCCCCGCCCCCCATCACCCCATGAGGTCAGTGGGGCAAGGTCACCATGCCCTATGACAGATGGAGAAATTGGGGCTGAGAGGCAGGTGATAAATGCACAGTCCTCAGAAGGGGCTGAGGCAAGCTGAGCCCACATCTTCCCCAGCTCTAGTGCCCGCCCAGGACCCCCACTCCATCAGCCATCAGTGGCCAGATCCCTGAGAGCACCTGCTCTGGGGTCAGCCACGTGCAAAAGGCCTGGGAGCCACAACAGGGAAGAAAGGGCCCTGCCCGCCCGCAGCTGGCGGTCACTGGGGAGAACAGACAAGAGAAAGCGTGGAGGATGGCATAGCTCAGAGTAGGGATTGTAGGCGGCAGACCACACTCCGTAGTAACCCCCAGTGTTGTGGGATATTAATGTGCATTACATAGGCAAGGAGTTATGTGATCAAATAGGTTTGAGCTAGGCACGGCTGCGCGTGCCTGTAGTCCCAGCTACTCAGAAAGCTGAGGCAGGAGGATCACGAGTCTGGGAGTTTGAGGCTACAGTGAGCTATGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAAAAAGAAAAAAAAAAAGAAGGTTTAAGAAACAAGTTTCTTAAATTTAAGTTACAGTGGCTCACACTTGTAACCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTGGAGACAAGCCCGGCCAATATGGTGACACCCCATCTCTACTAGAAATACAAAATTAGCTGGGCATGGAGGTGGATGCCTATAATCCCAGTTACTAGGGGGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGCGATCGTGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAACAAGTTTCTTCTCTGCAGGACTTCTCAGAGGCTTTGATAAAGTCCTGTGCCTAACCTGCAAGAGGGGCATGGGGAATGAATTCAGTGCTTCCCAAGTGAACCTGACCACAGAACCTTTACAGAGCACCCGGCAGGATGAGAGTTCCACGGCGCAAACTTTGGGAACCCTCTGCCCCCATCCCCCTCTATGCCCTTGTGTGCCATGCTTACACCCTGCTACCACCTGGATATTCTGGTGTCTGGGGAGGCACTGTCACCCCTCTTGACCATTGGCATGGGGCGGGGTGGCTGGAAGGGCTTACCTGGGCCAGGGCAGCTGTCTCAGGCCTCACCCTCACCCACCTTGTCTCCTAGGCCTGCCTGGCACTTCTCCCGTGCTGCAACCGAGGTATGGGCCTGGCATCGCAGGGGCAGCAGGGGCTCTGACTGCTCTTTCTCTGAGCTGGGGTGGAGGGAAGCTGAACCTGGAACGGCAGAGGCTGGAGGCTCTGGGGTCCCACCTGAAGAGGTTGGGCTGTGCGGGTCTAGGGAGGGGTGCCGTGCTGAGGACCCCATCCTGCAGGTCACATGGTGGGCTTTAAGGAAGACCACTACATGCTGCGGGAGAACCTGATGGCCTCTGACCACTTGGACACGCCCATGCTGCGCAGCGGGAACCTCAAGGGCCGTGACGTGGTCCGCTGGAAGGTCACCAACAACATGCAGCGGCCTGGCTTTGCCACTCATGCCGCCAGCATCAACCCCACAGAGCTGGGTGAGGGCGGGGCTGGGCGCCACAGCTCTGGGCAGTGCCCTTCGGGCCCTCTGTTCCAGATCTGGGATCACAGCATGCCTCTTCTCTGGGTGTGGGGTGCAGGCACAGGGCTCAGCCACCTTTTGCCCTGTGCTGATGGTGCTATGAACCTCATGCCTCGGTGTGCGTGGCCTGCTGGCCAGGCATCCCCTGATCCTAGCATGGTTGCTGGAGGGATGCTCTGTGGTGCCTGTCATGCAGGGGGCTGACCACCTCCATCTCACCCCCTCCCACCGCCTTTCCTTAGTGCCCTACGGGCTGTCCTTGCGCCTGGCCCGCCTTTGCACCGAGAACCTGCTGAAGCCTGACACTCGGGAGTGCGCCCAGCTGCGCCAGGAGGTGGAGGAGAACGTAAGGACCCAGGAACTAGGCCTGGCCGGAGATGTGGGTATGAGGGCGGGTGAGGTGGGCAGGGCAGAGCGAATGCGGTCGTGGTACCGAGATTCATTAACTAGGGGAGAGGGGTCTCTCTGGACCTGTGCCTGGCAGGGGGCATCCTGGGATCTGTTTCCAGAGGGCAGAAGGCCAGAGCCTGGGCCCAGGATGCTGCCCCACGGGGCATGCCCCAGCCAACCCTGAGGATCTCTGGGTACAGAGGCTGCCTGGCTCCCTGGGTCCCCAGCCTGAGGGCTTGCCACGGGGTGGCCTAGGCCCAGCCTCACGCCCCTCCCTTGCCTGGCAGCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGACCAAGTTCCGGTGAGTCCCGGGGTGCCCGGGTTGGGTGGGGGAGCCGCTCCTACCGGGACTCCAGGAGCCGAAGCCCCCAGGCCGATCAGGCCTCCACTTCAGGGCTATCTAGCTCACAGCGCCCTCTTTGTCCCCACAGGCAGCAGCCCAATGCCGGGAAAAAGTGAGTAGAAGACTCGTGGGTGAGAGGGCCCCCACTTCCTGCCCGCCTGTCCCCAGCCCAGCCACTGCCTCGTCCGTCCCTACTCCATCTCCATCCCATAGGAAGGGAGGGTCAGATGTGTCCGTCAGGTTCGGACCTTCATTCGTTCCTTTGACCATTTCTTCAACAAATGCTAATGTGAAGTGCTTGCTATGAAGTGGCCCCTGGACTAGAGCAGGCAAAAGCAAATCAACCCAGTCCCTGCCCTCATATAGGTGACTGTCCAGCCCCCCACCCGGTACCAGCGATAGCAGGTACCCATCTCCATCCGCTCCAGTGTCCAAGACCCTGATCTTGGGTGCACCTCTGGGGACCAGGCAGGTTACCGAGAGGATGGGCCAGCAGGTCACACACCTTTTTTCCCAGGTCCTACATCGAGTCCTGGCCCTTCATGGGGAGAGAGAGGGAGTGAGGAGGGGGTCTTGATGCAGGGACAGAAGAGCTAGAATCTCAGCACATGACCATCAGTAAGAACCGTTGGCTGTGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTCAGGTCAGGAGTTTAAGACTAGCCAGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGTTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACACCCTTAGCATCTTTGCTGTCCAGCCCTTGATGAGGTGGGCAGAGAAGCCCATTTCACAGAGGAGGACGCTGAGGACAGGGAGGCGCCATGGCTGGGCTGAGGCTGCAGGGTAAAGGGTATGGGGCTGGCATAGGCCTGGAGCACTGCCTGCCTCTGAAGACCCTGCACTTCTTGCTGTCTTACATCCTGGCCCCTGAAGGGGAGAAGACAGGCAGGAGGGACAGGGCAGCAGGTGCCAGCCTGACCCCTCCGCTGCCTGAACCTTCCACCCTCGACCCAGGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGG
GTTCTCTGCTTAGCTCAGTGTTCCTCTTTGTGCTGTCGCCACAGCATGTCCACGTGACTCCATTTCCCCGCCCCCCATCACCCCATGAGGTCAGTGGGGCAAGGTCACCATGCCCTATGACAGATGGAGAAATTGGGGCTGAGAGGCAGGTGATAAATGCACAGTCCTCAGAAGGGGCTGAGGCAAGCTGAGCCCACATCTTCCCCAGCTCTAGTGCCCGCCCAGGACCCCCACTCCATCAGCCATCAGTGGCCAGATCCCTGAGAGCACCTGCTCTGGGGTCAGCCACGTGCAAAAGGCCTGGGAGCCACAACAGGGAAGAAAGGGCCCTGCCCGCCCGCAGCTGGCGGTCACTGGGGAGAACAGACAAGAGAAAGCGTGGAGGATGGCATAGCTCAGAGTAGGGATTGTAGGCGGCAGACCACACTCCGTAGTAACCCCCAGTGTTGTGGGATATTAATGTGCATTACATAGGCAAGGAGTTATGTGATCAAATAGGTTTGAGCTAGGCACGGCTGCGCGTGCCTGTAGTCCCAGCTACTCAGAAAGCTGAGGCAGGAGGATCACGAGTCTGGGAGTTTGAGGCTACAGTGAGCTATGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCAAAAAGAAAAAAAAAAAGAAGGTTTAAGAAACAAGTTTCTTAAATTTAAGTTACAGTGGCTCACACTTGTAACCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTGGAGACAAGCCCGGCCAATATGGTGACACCCCATCTCTACTAGAAATACAAAATTAGCTGGGCATGGAGGTGGATGCCTATAATCCCAGTTACTAGGGGGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTAGAGGTTGCAGTGAGCCGCGATCGTGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAGAAAAGAAACAAGTTTCTTCTCTGCAGGACTTCTCAGAGGCTTTGATAAAGTCCTGTGCCTAACCTGCAAGAGGGGCATGGGGAATGAATTCAGTGCTTCCCAAGTGAACCTGACCACAGAACCTTTACAGAGCACCCGGCAGGATGAGAGTTCCACGGCGCAAACTTTGGGAACCCTCTGCCCCCATCCCCCTCTATGCCCTTGTGTGCCATGCTTACACCCTGCTACCACCTGGATATTCTGGTGTCTGGGGAGGCACTGTCACCCCTCTTGACCATTGGCATGGGGCGGGGTGGCTGGAAGGGCTTACCTGGGCCAGGGCAGCTGTCTCAGGCCTCACCCTCACCCACCTTGTCTCCTAGGCCTGCCTGGCACTTCTCCCGTGCTGCAACCGAGGTATGGGCCTGGCATCGCAGGGGCAGCAGGGGCTCTGACTGCTCTTTCTCTGAGCTGGGGTGGAGGGAAGCTGAACCTGGAACGGCAGAGGCTGGAGGCTCTGGGGTCCCACCTGAAGAGGTTGGGCTGTGCGGGTCTAGGGAGGGGTGCCGTGCTGAGGACCCCATCCTGCAGGTCACATGGTGGGCTTTAAGGAAGACCACTACATGCTGCGGGAGAACCTGATGGCCTCTGACCACTTGGACACGCCCATGCTGCGCAGCGGGAACCTCAAGGGCCGTGACGTGGTCCGCTGGAAGGTCACCAACAACATGCAGCGGCCTGGCTTTGCCACTCATGCCGCCAGCATCAACCCCACAGAGCTGGGTGAGGGCGGGGCTGGGCGCCACAGCTCTGGGCAGTGCCCTTCGGGCCCTCTGTTCCAGATCTGGGATCACAGCATGCCTCTTCTCTGGGTGTGGGGTGCAGGCACAGGGCTCAGCCACCTTTTGCCCTGTGCTGATGGTGCTATGAACCTCATGCCTCGGTGTGCGTGGCCTGCTGGCCAGGCATCCCCTGATCCTAGCATGGTTGCTGGAGGGATGCTCTGTGGTGCCTGTCATGCAGGGGGCTGACCACCTCCATCTCACCCCCTCCCACCGCCTTTCCTTAGTGCCCTACGGGCTGTCCTCGCGCCTGGCCCGCCTTTGCACCGAGAACCTGCTGAAGCCTGACACTCGGGAGTGCGCCCAGCTGCGCCAGGAGGTGGAGGAGAACGTAAGGACCCAGGAACTAGGCCTGGCCGGAGATGTGGGTATGAGGGCGGGTGAGGTGGGCAGGGCAGAGCGAATGCGGTCGTGGTACCGAGATTCATTAACTAGGGGAGAGGGGTCTCTCTGGACCTGTGCCTGGCAGGGGGCATCCTGGGATCTGTTTCCAGAGGGCAGAAGGCCAGAGCCTGGGCCCAGGATGCTGCCCCACGGGGCATGCCCCAGCCAACCCTGAGGATCTCTGGGTACAGAGGCTGCCTGGCTCCCTGGGTCCCCAGCCTGAGGGCTTGCCACGGGGTGGCCTAGGCCCAGCCTCACGCCCCTCCCTTGCCTGGCAGCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGACCAAGTTCCGGTGAGTCCCGGGGTGCCCGGGTTGGGTGGGGGAGCCGCTCCTACCGGGACTCCAGGAGCCGAAGCCCCCAGGCCGATCAGGCCTCCACTTCAGGGCTATCTAGCTCACAGCGCCCTCTTTGTCCCCACAGGCAGCAGCCCAATGCCGGGAAAAAGTGAGTAGAAGACTCGTGGGTGAGAGGGCCCCCACTTCCTGCCCGCCTGTCCCCAGCCCAGCCACTGCCTCGTCCGTCCCTACTCCATCTCCATCCCATAGGAAGGGAGGGTCAGATGTGTCCGTCAGGTTCGGACCTTCATTCGTTCCTTTGACCATTTCTTCAACAAATGCTAATGTGAAGTGCTTGCTATGAAGTGGCCCCTGGACTAGAGCAGGCAAAAGCAAATCAACCCAGTCCCTGCCCTCATATAGGTGACTGTCCAGCCCCCCACCCGGTACCAGCGATAGCAGGTACCCATCTCCATCCGCTCCAGTGTCCAAGACCCTGATCTTGGGTGCACCTCTGGGGACCAGGCAGGTTACCGAGAGGATGGGCCAGCAGGTCACACACCTTTTTTCCCAGGTCCTACATCGAGTCCTGGCCCTTCATGGGGAGAGAGAGGGAGTGAGGAGGGGGTCTTGATGCAGGGACAGAAGAGCTAGAATCTCAGCACATGACCATCAGTAAGAACCGTTGGCTGTGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTCAGGTCAGGAGTTTAAGACTAGCCAGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGTTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACACCCTTAGCATCTTTGCTGTCCAGCCCTTGATGAGGTGGGCAGAGAAGCCCATTTCACAGAGGAGGACGCTGAGGACAGGGAGGCGCCATGGCTGGGCTGAGGCTGCAGGGTAAAGGGTATGGGGCTGGCATAGGCCTGGAGCACTGCCTGCCTCTGAAGACCCTGCACTTCTTGCTGTCTTACATCCTGGCCCCTGAAGGGGAGAAGACAGGCAGGAGGGACAGGGCAGCAGGTGCCAGCCTGACCCCTCCGCTGCCTGAACCTTCCACCCTCGACCCAGGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGG
Task1_train_25545
Here is a genetic alteration in ITGB4 (integrin subunit beta 4) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Epidermolysis bullosa, junctional 5A, intermediate
TGGTACCGAGATTCATTAACTAGGGGAGAGGGGTCTCTCTGGACCTGTGCCTGGCAGGGGGCATCCTGGGATCTGTTTCCAGAGGGCAGAAGGCCAGAGCCTGGGCCCAGGATGCTGCCCCACGGGGCATGCCCCAGCCAACCCTGAGGATCTCTGGGTACAGAGGCTGCCTGGCTCCCTGGGTCCCCAGCCTGAGGGCTTGCCACGGGGTGGCCTAGGCCCAGCCTCACGCCCCTCCCTTGCCTGGCAGCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGACCAAGTTCCGGTGAGTCCCGGGGTGCCCGGGTTGGGTGGGGGAGCCGCTCCTACCGGGACTCCAGGAGCCGAAGCCCCCAGGCCGATCAGGCCTCCACTTCAGGGCTATCTAGCTCACAGCGCCCTCTTTGTCCCCACAGGCAGCAGCCCAATGCCGGGAAAAAGTGAGTAGAAGACTCGTGGGTGAGAGGGCCCCCACTTCCTGCCCGCCTGTCCCCAGCCCAGCCACTGCCTCGTCCGTCCCTACTCCATCTCCATCCCATAGGAAGGGAGGGTCAGATGTGTCCGTCAGGTTCGGACCTTCATTCGTTCCTTTGACCATTTCTTCAACAAATGCTAATGTGAAGTGCTTGCTATGAAGTGGCCCCTGGACTAGAGCAGGCAAAAGCAAATCAACCCAGTCCCTGCCCTCATATAGGTGACTGTCCAGCCCCCCACCCGGTACCAGCGATAGCAGGTACCCATCTCCATCCGCTCCAGTGTCCAAGACCCTGATCTTGGGTGCACCTCTGGGGACCAGGCAGGTTACCGAGAGGATGGGCCAGCAGGTCACACACCTTTTTTCCCAGGTCCTACATCGAGTCCTGGCCCTTCATGGGGAGAGAGAGGGAGTGAGGAGGGGGTCTTGATGCAGGGACAGAAGAGCTAGAATCTCAGCACATGACCATCAGTAAGAACCGTTGGCTGTGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTCAGGTCAGGAGTTTAAGACTAGCCAGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGTTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACACCCTTAGCATCTTTGCTGTCCAGCCCTTGATGAGGTGGGCAGAGAAGCCCATTTCACAGAGGAGGACGCTGAGGACAGGGAGGCGCCATGGCTGGGCTGAGGCTGCAGGGTAAAGGGTATGGGGCTGGCATAGGCCTGGAGCACTGCCTGCCTCTGAAGACCCTGCACTTCTTGCTGTCTTACATCCTGGCCCCTGAAGGGGAGAAGACAGGCAGGAGGGACAGGGCAGCAGGTGCCAGCCTGACCCCTCCGCTGCCTGAACCTTCCACCCTCGACCCAGGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGGTGGAACAGAGGGCCTTCCACGACCTCAAGGTGGCCCCCGGCTACTACACCCTCACTGCAGACCAGGGTAGGAGGGCGGGTCCGCTGTGCCACTGCCTCGCACCTCCCGCCTGTGTGGCCCTGTGACCCACCTCTGACCACCTCCGAACCCCCACCCAGACGCCCGGGGCATGGTGGAGTTCCAGGAGGGCGTGGAGCTGGTGGACGTACGGGTGCCCCTCTTTATCCGGCCTGAGGATGACGACGAGAAGCAGCTGCTGGTGGAGGCCATCGACGTGCCCGCAGGCACTGCCACCCTCGGCCGCCGCCTGGTAAACATCACCATCATCAAGGAGCAAGGTGGGTCTGGGTGGGGAGAGTGGGGAAGGCAGACGGGGGCTCGGGGGCACTGGTTCCTCCTGCTTAAGTGGAATTGCGACCTGGCCACGTGGCCTGGGCTAGTCACTTAACCTCTGCAAGCCTTGGTTTCTCCATCTGTAAAATGGGTAAGGGCTCTTTTACGGAATGCGTGGCTGTTCACCTCGCCACAGTGCCTGCCTGGTGGTGAGCGCTCAGTAAATGGAAGCTTCTGTTGCATCCTCATAAGGGCCAGCCCCTTGCTCCTCTCTATCTAGAAAAAGGGTTGGCCAAGGCATCACACCGTGGACATCTGACCCCTCCTCCCACCTGTGCCGGAAGCCACAGGCCTCAGGCCTGTTCCTGCTCTCCTCCAGCCCTGGGGCTGAAGGCTCCATCTCTGGTCCTGCCCGTGACTGGCCTCCCTCCTCTGCCTGGCCCTTCCAGGATGTCTGCTGGACACTTTGTTCCAGAACCACTTTTTTTTTTCTTGGGACAGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAATGGCACCATCTTGGCTCACTGCAACCGCTGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTCGCCACCACGCCCAGCTAATTTTTCTATCTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCACTGCGCCCGGCCCCTCATCTTTTTCTGGAAGGATTTTCCGTTTCGCTCCTGTGCCCTTCCCAGAGGGCAATGCATAGAGGGAACCAAGCGGACTCCTGGATTCTGGGCTGGGCTGGGCAGGGTCACAGGAGAGCAGGAGGTGGGAAGGGACTGGGCCCAGCACACTCTGACAAATGCCCGGGCTCCTTGCAGCCAGAGACGTGGTGTCCTTTGAGCAGCCTGAGTTCTCGGTCAGCCGCGGGGACCAGGTGGCCCGCATCCCTGTCATCCGGCGTGTCCTGGACGGCGGGAAGTCCCAGGTCTCCTACCGCACACAGGATGGCACCGCGCAGGGCAACCGGGTGAGGCTGCGCCACAGGGTCGAGGGTGCAGCCCGGGGGGCTGCGTGGGCACCGCATTGGGTTCCCAAGACAAAGCAGCACATGGCAGCTGCTTGAGTCCCTGGATACTGGCCGTGCCCCTGGCTGGCCTCCCAAGGACACGTCCACCTGCTCCTGCCACCCTGTGGCAGGGGAGTCTCACCTGCCCAGGGTGCCAGTGACACGCTGGATGAGGCTCCATTGCTGCCAGGGACTCAGGCCAAGAGGGCTCGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACCGCAACCTCCACCTCTCGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCATGTCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAGAGGGCTCTTTCTTCCTTCATGGGCCAGGGACCTGCCCAGACCATTCCTGTCCCCTCCTACAACTCAGGATCCACAGGGTAGCCAAACCTCTTGGAGATAAACTCCCCCTATATGCCCCAGTCCAGGGGGCTTTGGGTTTCTTGAGCTGGGATCGAAGACCCCATGTCCCCAGGCCAGACTCCCCAAGGGCTGTCACAATTTGCCAAGCAGCAGGA
TGGTACCGAGATTCATTAACTAGGGGAGAGGGGTCTCTCTGGACCTGTGCCTGGCAGGGGGCATCCTGGGATCTGTTTCCAGAGGGCAGAAGGCCAGAGCCTGGGCCCAGGATGCTGCCCCACGGGGCATGCCCCAGCCAACCCTGAGGATCTCTGGGTACAGAGGCTGCCTGGCTCCCTGGGTCCCCAGCCTGAGGGCTTGCCACGGGGTGGCCTAGGCCCAGCCTCACGCCCCTCCCTTGCCTGGCAGCTGAACGAGGTCTACAGGCAGATCTCCGGTGTACACAAGCTCCAGCAGACCAAGTTCCGGTGAGTCCCGGGGTGCCCGGGTTGGGTGGGGGAGCCGCTCCTACCGGGACTCCAGGAGCCGAAGCCCCCAGGCCGATCAGGCCTCCACTTCAGGGCTATCTAGCTCACAGCGCCCTCTTTGTCCCCACAGGCAGCAGCCCAATGCCGGGAAAAAGTGAGTAGAAGACTCGTGGGTGAGAGGGCCCCCACTTCCTGCCCGCCTGTCCCCAGCCCAGCCACTGCCTCGTCCGTCCCTACTCCATCTCCATCCCATAGGAAGGGAGGGTCAGATGTGTCCGTCAGGTTCGGACCTTCATTCGTTCCTTTGACCATTTCTTCAACAAATGCTAATGTGAAGTGCTTGCTATGAAGTGGCCCCTGGACTAGAGCAGGCAAAAGCAAATCAACCCAGTCCCTGCCCTCATATAGGTGACTGTCCAGCCCCCCACCCGGTACCAGCGATAGCAGGTACCCATCTCCATCCGCTCCAGTGTCCAAGACCCTGATCTTGGGTGCACCTCTGGGGACCAGGCAGGTTACCGAGAGGATGGGCCAGCAGGTCACACACCTTTTTTCCCAGGTCCTACATCGAGTCCTGGCCCTTCATGGGGAGAGAGAGGGAGTGAGGAGGGGGTCTTGATGCAGGGACAGAAGAGCTAGAATCTCAGCACATGACCATCAGTAAGAACCGTTGGCTGTGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTCAGGTCAGGAGTTTAAGACTAGCCAGGCCAACATGGTGAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGTTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACACCCTTAGCATCTTTGCTGTCCAGCCCTTGATGAGGTGGGCAGAGAAGCCCATTTCACAGAGGAGGACGCTGAGGACAGGGAGGCGCCATGGCTGGGCTGAGGCTGCAGGGTAAAGGGTATGGGGCTGGCATAGGCCTGGAGCACTGCCTGCCTCTGAAGACCCTGCACTTCTTGCTGTCTTACATCCTGGCCCCTGAAGGGGAGAAGACAGGCAGGAGGGACAGGGCAGCAGGTGCCAGCCTGACCCCTCCGCTGCCTGAACCTTCCACCCTCGACCCAGGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGGTGGAACAGAGGGCCTTCCACGACCTCAAGGTGGCCCCCGGCTACTACACCCTCACTGCAGACCAGGGTAGGAGGGCGGGTCCGCTGTGCCACTGCCTCGCACCTCCCGCCTGTGTGGCCCTGTGACCCACCTCTGACCACCTCCGAACCCCCACCCAGACGCCCGGGACATGGTGGAGTTCCAGGAGGGCGTGGAGCTGGTGGACGTACGGGTGCCCCTCTTTATCCGGCCTGAGGATGACGACGAGAAGCAGCTGCTGGTGGAGGCCATCGACGTGCCCGCAGGCACTGCCACCCTCGGCCGCCGCCTGGTAAACATCACCATCATCAAGGAGCAAGGTGGGTCTGGGTGGGGAGAGTGGGGAAGGCAGACGGGGGCTCGGGGGCACTGGTTCCTCCTGCTTAAGTGGAATTGCGACCTGGCCACGTGGCCTGGGCTAGTCACTTAACCTCTGCAAGCCTTGGTTTCTCCATCTGTAAAATGGGTAAGGGCTCTTTTACGGAATGCGTGGCTGTTCACCTCGCCACAGTGCCTGCCTGGTGGTGAGCGCTCAGTAAATGGAAGCTTCTGTTGCATCCTCATAAGGGCCAGCCCCTTGCTCCTCTCTATCTAGAAAAAGGGTTGGCCAAGGCATCACACCGTGGACATCTGACCCCTCCTCCCACCTGTGCCGGAAGCCACAGGCCTCAGGCCTGTTCCTGCTCTCCTCCAGCCCTGGGGCTGAAGGCTCCATCTCTGGTCCTGCCCGTGACTGGCCTCCCTCCTCTGCCTGGCCCTTCCAGGATGTCTGCTGGACACTTTGTTCCAGAACCACTTTTTTTTTTCTTGGGACAGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAATGGCACCATCTTGGCTCACTGCAACCGCTGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTCGCCACCACGCCCAGCTAATTTTTCTATCTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCACTGCGCCCGGCCCCTCATCTTTTTCTGGAAGGATTTTCCGTTTCGCTCCTGTGCCCTTCCCAGAGGGCAATGCATAGAGGGAACCAAGCGGACTCCTGGATTCTGGGCTGGGCTGGGCAGGGTCACAGGAGAGCAGGAGGTGGGAAGGGACTGGGCCCAGCACACTCTGACAAATGCCCGGGCTCCTTGCAGCCAGAGACGTGGTGTCCTTTGAGCAGCCTGAGTTCTCGGTCAGCCGCGGGGACCAGGTGGCCCGCATCCCTGTCATCCGGCGTGTCCTGGACGGCGGGAAGTCCCAGGTCTCCTACCGCACACAGGATGGCACCGCGCAGGGCAACCGGGTGAGGCTGCGCCACAGGGTCGAGGGTGCAGCCCGGGGGGCTGCGTGGGCACCGCATTGGGTTCCCAAGACAAAGCAGCACATGGCAGCTGCTTGAGTCCCTGGATACTGGCCGTGCCCCTGGCTGGCCTCCCAAGGACACGTCCACCTGCTCCTGCCACCCTGTGGCAGGGGAGTCTCACCTGCCCAGGGTGCCAGTGACACGCTGGATGAGGCTCCATTGCTGCCAGGGACTCAGGCCAAGAGGGCTCGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACCGCAACCTCCACCTCTCGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCATGTCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAGAGGGCTCTTTCTTCCTTCATGGGCCAGGGACCTGCCCAGACCATTCCTGTCCCCTCCTACAACTCAGGATCCACAGGGTAGCCAAACCTCTTGGAGATAAACTCCCCCTATATGCCCCAGTCCAGGGGGCTTTGGGTTTCTTGAGCTGGGATCGAAGACCCCATGTCCCCAGGCCAGACTCCCCAAGGGCTGTCACAATTTGCCAAGCAGCAGGA
Task1_train_25546
A mutation in ITGB4 (integrin subunit beta 4), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
GTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACACCCTTAGCATCTTTGCTGTCCAGCCCTTGATGAGGTGGGCAGAGAAGCCCATTTCACAGAGGAGGACGCTGAGGACAGGGAGGCGCCATGGCTGGGCTGAGGCTGCAGGGTAAAGGGTATGGGGCTGGCATAGGCCTGGAGCACTGCCTGCCTCTGAAGACCCTGCACTTCTTGCTGTCTTACATCCTGGCCCCTGAAGGGGAGAAGACAGGCAGGAGGGACAGGGCAGCAGGTGCCAGCCTGACCCCTCCGCTGCCTGAACCTTCCACCCTCGACCCAGGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGGTGGAACAGAGGGCCTTCCACGACCTCAAGGTGGCCCCCGGCTACTACACCCTCACTGCAGACCAGGGTAGGAGGGCGGGTCCGCTGTGCCACTGCCTCGCACCTCCCGCCTGTGTGGCCCTGTGACCCACCTCTGACCACCTCCGAACCCCCACCCAGACGCCCGGGGCATGGTGGAGTTCCAGGAGGGCGTGGAGCTGGTGGACGTACGGGTGCCCCTCTTTATCCGGCCTGAGGATGACGACGAGAAGCAGCTGCTGGTGGAGGCCATCGACGTGCCCGCAGGCACTGCCACCCTCGGCCGCCGCCTGGTAAACATCACCATCATCAAGGAGCAAGGTGGGTCTGGGTGGGGAGAGTGGGGAAGGCAGACGGGGGCTCGGGGGCACTGGTTCCTCCTGCTTAAGTGGAATTGCGACCTGGCCACGTGGCCTGGGCTAGTCACTTAACCTCTGCAAGCCTTGGTTTCTCCATCTGTAAAATGGGTAAGGGCTCTTTTACGGAATGCGTGGCTGTTCACCTCGCCACAGTGCCTGCCTGGTGGTGAGCGCTCAGTAAATGGAAGCTTCTGTTGCATCCTCATAAGGGCCAGCCCCTTGCTCCTCTCTATCTAGAAAAAGGGTTGGCCAAGGCATCACACCGTGGACATCTGACCCCTCCTCCCACCTGTGCCGGAAGCCACAGGCCTCAGGCCTGTTCCTGCTCTCCTCCAGCCCTGGGGCTGAAGGCTCCATCTCTGGTCCTGCCCGTGACTGGCCTCCCTCCTCTGCCTGGCCCTTCCAGGATGTCTGCTGGACACTTTGTTCCAGAACCACTTTTTTTTTTCTTGGGACAGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAATGGCACCATCTTGGCTCACTGCAACCGCTGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTCGCCACCACGCCCAGCTAATTTTTCTATCTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCACTGCGCCCGGCCCCTCATCTTTTTCTGGAAGGATTTTCCGTTTCGCTCCTGTGCCCTTCCCAGAGGGCAATGCATAGAGGGAACCAAGCGGACTCCTGGATTCTGGGCTGGGCTGGGCAGGGTCACAGGAGAGCAGGAGGTGGGAAGGGACTGGGCCCAGCACACTCTGACAAATGCCCGGGCTCCTTGCAGCCAGAGACGTGGTGTCCTTTGAGCAGCCTGAGTTCTCGGTCAGCCGCGGGGACCAGGTGGCCCGCATCCCTGTCATCCGGCGTGTCCTGGACGGCGGGAAGTCCCAGGTCTCCTACCGCACACAGGATGGCACCGCGCAGGGCAACCGGGTGAGGCTGCGCCACAGGGTCGAGGGTGCAGCCCGGGGGGCTGCGTGGGCACCGCATTGGGTTCCCAAGACAAAGCAGCACATGGCAGCTGCTTGAGTCCCTGGATACTGGCCGTGCCCCTGGCTGGCCTCCCAAGGACACGTCCACCTGCTCCTGCCACCCTGTGGCAGGGGAGTCTCACCTGCCCAGGGTGCCAGTGACACGCTGGATGAGGCTCCATTGCTGCCAGGGACTCAGGCCAAGAGGGCTCGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACCGCAACCTCCACCTCTCGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCATGTCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAGAGGGCTCTTTCTTCCTTCATGGGCCAGGGACCTGCCCAGACCATTCCTGTCCCCTCCTACAACTCAGGATCCACAGGGTAGCCAAACCTCTTGGAGATAAACTCCCCCTATATGCCCCAGTCCAGGGGGCTTTGGGTTTCTTGAGCTGGGATCGAAGACCCCATGTCCCCAGGCCAGACTCCCCAAGGGCTGTCACAATTTGCCAAGCAGCAGGAGCAACCCTTCAAGGCAGGGAGTGCCATGGCTGGACCAGCATCACCTTCACTGCTGAGCCCCAGTGCTGGGGTACAGCCAAATCAGGTGGCACACAGGCTGGACTGGGTTTACAGGCTTCATAGTTTTGTTTCTTTTGTTTTGTGTGGGGATTTTTTGCTTCTTAATTTTTGGGGGAGACAGGGTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCTACCACGCCCGGCCTAGTTTTTGTATTTTTAGAAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAAGTGATCCGCCCACCTCGGCTTCCCAAAGTGCAGGGATTACAGGTGTAAGCCAGTGCACCTGGCCTTTCTAGTTTTTAAATGTTGGCAACAAATCCATAATTAAAAACAAAGGCGGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGAGAATCACTTAAACCCAGGAGTTCAAGACCAGCCTAGGCAACGTGGTGAGACCATGTCTATACATATAATTTAAACATTAGCTGGGCATGGTAGTGCATACTTGTGGACCCAGCTACTTGGAAGGCTGAGGCAGGAAGATCACTTGAGGCCAGGAGGTTGAGGCTACAGTGAGCCATGTTCATGCCACTGTACTTCAGCCTAGGCAACAGAGTAAGACCCTGTCTAAAAAAATAATAATAATTAATTTTTTAAAAATCAAACAAAAAAACAAAGAAACAAAACCTGGCTCAGTGCAGTAGCTCATGCATGTAATCCCAACACTGTGGGAGGGCACAGTGGGAGGATCACTTGAGCCCAGGAGTTGCAGGCCAGCTTGGGCAACATAGTAAGACCCTGTCTCTATTTTAAAAAAATAATAATAATAATAAAGGCCAGGCGAGGTGGCGTATGCCTGTAATCCTAGCACTGTGGGAGGCCAAGGCAGGTGGATCGCCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACGTGCCTCTAATCCCAGCTACCCGGGAGGCCGAGGCAGGAGAATTGCTGGAAACCAGGAGGTGGAGGCTGCAGTGAACCGAGATCATGC
GTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACTGAGTGAGAATCCGTCTTGAAAAAAAAAAAAAAGAATGGCTGACCAGCATTTCTTATCCTGCTACGGGCCAAGCATTGTCCTAAGGGCTTTCCGTGTGTGGTCATCTTATCCAACCCTCTCGTCAAGCCTGTGAGGTAGAGATCACTGCTGTTCCCATTTTGCAGATGAGGAAGCTGAGGCTCAAAAGGGTTAAGTGACTTGCCCAAGGTTACCCAGCTATCGAGAACTAGAACCAGGGCTAGGGCCGCGGCAGCCTGGCCTGAGCACACACACCCTTAGCATCTTTGCTGTCCAGCCCTTGATGAGGTGGGCAGAGAAGCCCATTTCACAGAGGAGGACGCTGAGGACAGGGAGGCGCCATGGCTGGGCTGAGGCTGCAGGGTAAAGGGTATGGGGCTGGCATAGGCCTGGAGCACTGCCTGCCTCTGAAGACCCTGCACTTCTTGCTGTCTTACATCCTGGCCCCTGAAGGGGAGAAGACAGGCAGGAGGGACAGGGCAGCAGGTGCCAGCCTGACCCCTCCGCTGCCTGAACCTTCCACCCTCGACCCAGGCAAGACCACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAGCTTACAGAGAAGCAGGTGGAACAGAGGGCCTTCCACGACCTCAAGGTGGCCCCCGGCTACTACACCCTCACTGCAGACCAGGGTAGGAGGGCGGGTCCGCTGTGCCACTGCCTCGCACCTCCCGCCTGTGTGGCCCTGTGACCCACCTCTGACCACCTCCGAACCCCCACCCAGACGCCCGGGGCATGGTGGAGTTCCAGGAGGGCGTGGAGCTGGTGGACGTACGGGTGCCCCTCTTTATCCGGCCTGAGGATGACGACGAGAAGCAGCTGCTGGTGGAGGCCATCGACGTGCCCGCAGGCACTGCCACCCTCGGCCGCCGCCTGGTAAACATCACCATCATCAAGGAGCAAGGTGGGTCTGGGTGGGGAGAGTGGGGAAGGCAGACGGGGGCTCGGGGGCACTGGTTCCTCCTGCTTAAGTGGAATTGCGACCTGGCCACGTGGCCTGGGCTAGTCACTTAACCTCTGCAAGCCTTGGTTTCTCCATCTGTAAAATGGGTAAGGGCTCTTTTACGGAATGCGTGGCTGTTCACCTCGCCACAGTGCCTGCCTGGTGGTGAGCGCTCAGTAAATGGAAGCTTCTGTTGCATCCTCATAAGGGCCAGCCCCTTGCTCCTCTCTATCTAGAAAAAGGGTTGGCCAAGGCATCACACCGTGGACATCTGACCCCTCCTCCCACCTGTGCCGGAAGCCACAGGCCTCAGGCCTGTTCCTGCTCTCCTCCAGCCCTGGGGCTGAAGGCTCCATCTCTGGTCCTGCCCGTGACTGGCCTCCCTCCTCTGCCTGGCCCTTCCAGGATGTCTGCTGGACACTTTGTTCCAGAACCACTTTTTTTTTTCTTGGGACAGAGTCTTGCTCTGCCACCCAGGCTGGAGTGCAATGGCACCATCTTGGCTCACTGCAACCGCTGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTCGCCACCACGCCCAGCTAATTTTTCTATCTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCACAAGCCACTGCGCCCGGCCCCTCATCTTTTTCTGGAAGGATTTTCCGTTTCGCTCCTGTGCCCTTCCCAGAGGGCAATGCATAGAGGGAACCAAGCGGACTCCTGGATTCTGGGCTGGGCTGGGCAGGGTCACAGGAGAGCAGGAGGTGGGAAGGGACTGGGCCCAGCACACTCTGACAAATGCCCGGGCTCCTTGCAGCCAGAGACGTGGTGTCCTTTGAGCAGCCTGAGTTCTCGGTCAGCCGCGGGGACCAGGTGGCCCGCATCCCTGTCATCTGGCGTGTCCTGGACGGCGGGAAGTCCCAGGTCTCCTACCGCACACAGGATGGCACCGCGCAGGGCAACCGGGTGAGGCTGCGCCACAGGGTCGAGGGTGCAGCCCGGGGGGCTGCGTGGGCACCGCATTGGGTTCCCAAGACAAAGCAGCACATGGCAGCTGCTTGAGTCCCTGGATACTGGCCGTGCCCCTGGCTGGCCTCCCAAGGACACGTCCACCTGCTCCTGCCACCCTGTGGCAGGGGAGTCTCACCTGCCCAGGGTGCCAGTGACACGCTGGATGAGGCTCCATTGCTGCCAGGGACTCAGGCCAAGAGGGCTCGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACCGCAACCTCCACCTCTCGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCATGTCTAATTTTGTGTTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAAGAGGGCTCTTTCTTCCTTCATGGGCCAGGGACCTGCCCAGACCATTCCTGTCCCCTCCTACAACTCAGGATCCACAGGGTAGCCAAACCTCTTGGAGATAAACTCCCCCTATATGCCCCAGTCCAGGGGGCTTTGGGTTTCTTGAGCTGGGATCGAAGACCCCATGTCCCCAGGCCAGACTCCCCAAGGGCTGTCACAATTTGCCAAGCAGCAGGAGCAACCCTTCAAGGCAGGGAGTGCCATGGCTGGACCAGCATCACCTTCACTGCTGAGCCCCAGTGCTGGGGTACAGCCAAATCAGGTGGCACACAGGCTGGACTGGGTTTACAGGCTTCATAGTTTTGTTTCTTTTGTTTTGTGTGGGGATTTTTTGCTTCTTAATTTTTGGGGGAGACAGGGTCTTGCTATGTTGCCCAAGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCTACCACGCCCGGCCTAGTTTTTGTATTTTTAGAAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAAGTGATCCGCCCACCTCGGCTTCCCAAAGTGCAGGGATTACAGGTGTAAGCCAGTGCACCTGGCCTTTCTAGTTTTTAAATGTTGGCAACAAATCCATAATTAAAAACAAAGGCGGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGAGAATCACTTAAACCCAGGAGTTCAAGACCAGCCTAGGCAACGTGGTGAGACCATGTCTATACATATAATTTAAACATTAGCTGGGCATGGTAGTGCATACTTGTGGACCCAGCTACTTGGAAGGCTGAGGCAGGAAGATCACTTGAGGCCAGGAGGTTGAGGCTACAGTGAGCCATGTTCATGCCACTGTACTTCAGCCTAGGCAACAGAGTAAGACCCTGTCTAAAAAAATAATAATAATTAATTTTTTAAAAATCAAACAAAAAAACAAAGAAACAAAACCTGGCTCAGTGCAGTAGCTCATGCATGTAATCCCAACACTGTGGGAGGGCACAGTGGGAGGATCACTTGAGCCCAGGAGTTGCAGGCCAGCTTGGGCAACATAGTAAGACCCTGTCTCTATTTTAAAAAAATAATAATAATAATAAAGGCCAGGCGAGGTGGCGTATGCCTGTAATCCTAGCACTGTGGGAGGCCAAGGCAGGTGGATCGCCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACGTGCCTCTAATCCCAGCTACCCGGGAGGCCGAGGCAGGAGAATTGCTGGAAACCAGGAGGTGGAGGCTGCAGTGAACCGAGATCATGC
Task1_train_25547
The gene ITGB4 (integrin subunit beta 4) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
GGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGT
GGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCATCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGT
Task1_train_25548
Here is a mutation in GALK1, ITGB4 (galactokinase 1| integrin subunit beta 4) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Junctional epidermolysis bullosa
CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGG
CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACTGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGG
Task1_train_25549
Consider a variant on Chromosome 17 in gene GALK1, ITGB4 (galactokinase 1| integrin subunit beta 4). Determine its clinical classification and disease relevance.
Pathogenic; Junctional epidermolysis bullosa with pyloric atresia
CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGG
CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACTGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGG
Task1_train_25550
A variant affecting Chromosome 17, within the gene GALK1, ITGB4 (galactokinase 1| integrin subunit beta 4), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Epidermolysis bullosa, junctional 5A, intermediate
CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGG
CTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACTGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGG
Task1_train_25551
A genomic change on Chromosome 17 affects GALK1 (galactokinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Deficiency of galactokinase
GGAGAATTGCTTGAACCCTGAAGACGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACGACCAGCCCGACCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTCTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTGCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAAATAAATAAATAAATAATAAAAAAGATAAATAAAAAAAGTTAATCACAGTGTGAGGTGTATCAGAAAATAGTTAAGTAAATGACAGAGCACCTGAATGCTAAAATATTGTGGAGCTTTAAAGAGCCACACGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCAC
GGAGAATTGCTTGAACCCTGAAGACGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACGACCAGCCCGACCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTCTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTGCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAAATAAATAAATAAATAATAAAAAAGATAAATAAAAAAAGTTAATCACAGTGTGAGGTGTATCAGAAAATAGTTAAGTAAATGACAGAGCACCTGAATGCTAAAATATTGTGGAGCTTTAAAGAGCCACACGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCAGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCAC
Task1_train_25552
Mutation context: Chromosome 17, Gene GALK1 (galactokinase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Deficiency of galactokinase
GCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCTGGCGCTGGTGACTTTCTATGTGCCTCACCACCCACCACCACCCACACAGCCAGAGCAATGGAGCTGGCACCCGGTTGACCTGGGATTCCCAAAGGGATCCCCTAGGTCCCCAGGGCCAGCAGCTGTGAGAGGTCATCAGCCTCTGATCACCGGTCTCCAAGAGGGTGACCTGACACTCACTGTAAGTAGAGATAAAGACAGACAAGTTTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTTCGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGACAAGTTTGGTGGTGACCAGAGAGTCAATTTTACAAGCTCCTTTTCTAGGTAATACGCAACAGCTCCTAGCAATGGAGAATTGGACTAGGGTGGCGGTGGCCAGCAGTGGGCCCAGCCCCTCCCTTAAGGACCTGCCACAGCTGTCCAGGTAGGTTGTGCTGTTGGCCCCAGCAGGCACTACTTCAGCCCAGAAGCCCTTGTCTCAGAGGCGTGGCCTTGTTCCCAGTCAGGCACTCTTCTCTTGCTATCCTGCATCCTAAACCTGCTGGCCGGCCCCAACTGCTGCCTTGATACCTGTCCACAGCTGCCCACCCTACATGGAACCTTGAAACTGAAAGACTGAAATGTAAGCAGCTTGCTTGGGGTTAGGGTGGGAGTAGTGTGGGGAGTTATGGCCAGGGATTTAGCTTGGGGCCTGCTCAGGGGTGTGCCCAAAGAGTGGGGAACTGCATTCCAAGGGCAATTCTGAAAACTCTTAGAAGAAAACATAGGGGTACAGTTTTGTGACATTGGTTAGGAAATGTTTATTTGGTTTCTGTTTTTGAGACGGAGTTTCGCTCTCGTTGTCCAAGCTGGAGTGCAATGGCGTGATCTCAGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACTGGGGTTTCACCAGGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACACCTAGTCATGTTTTTTTATTTTTATTTATTTACGTATTTATTTATTTTAGACAGATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGATTACAGGCACCCTCCACCATGCCTGGATAATTTTTGTAAAAGCAGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATACAG
GCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGTCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCTGGCGCTGGTGACTTTCTATGTGCCTCACCACCCACCACCACCCACACAGCCAGAGCAATGGAGCTGGCACCCGGTTGACCTGGGATTCCCAAAGGGATCCCCTAGGTCCCCAGGGCCAGCAGCTGTGAGAGGTCATCAGCCTCTGATCACCGGTCTCCAAGAGGGTGACCTGACACTCACTGTAAGTAGAGATAAAGACAGACAAGTTTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTTCGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGACAAGTTTGGTGGTGACCAGAGAGTCAATTTTACAAGCTCCTTTTCTAGGTAATACGCAACAGCTCCTAGCAATGGAGAATTGGACTAGGGTGGCGGTGGCCAGCAGTGGGCCCAGCCCCTCCCTTAAGGACCTGCCACAGCTGTCCAGGTAGGTTGTGCTGTTGGCCCCAGCAGGCACTACTTCAGCCCAGAAGCCCTTGTCTCAGAGGCGTGGCCTTGTTCCCAGTCAGGCACTCTTCTCTTGCTATCCTGCATCCTAAACCTGCTGGCCGGCCCCAACTGCTGCCTTGATACCTGTCCACAGCTGCCCACCCTACATGGAACCTTGAAACTGAAAGACTGAAATGTAAGCAGCTTGCTTGGGGTTAGGGTGGGAGTAGTGTGGGGAGTTATGGCCAGGGATTTAGCTTGGGGCCTGCTCAGGGGTGTGCCCAAAGAGTGGGGAACTGCATTCCAAGGGCAATTCTGAAAACTCTTAGAAGAAAACATAGGGGTACAGTTTTGTGACATTGGTTAGGAAATGTTTATTTGGTTTCTGTTTTTGAGACGGAGTTTCGCTCTCGTTGTCCAAGCTGGAGTGCAATGGCGTGATCTCAGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACTGGGGTTTCACCAGGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACACCTAGTCATGTTTTTTTATTTTTATTTATTTACGTATTTATTTATTTTAGACAGATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGATTACAGGCACCCTCCACCATGCCTGGATAATTTTTGTAAAAGCAGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATACAG
Task1_train_25553
The gene H3-3B (H3.3 histone B), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Bryant-Li-Bhoj neurodevelopmental syndrome 2
TGGGTTGAGTGCTCAAGCCAAGTGTGGAAATGCAAGTCACTGCTTCGGCAGATTGCAAGCTGCCCAATATAATCTAAGAGCCTTCTATGCCAGCCTGCAGACTGGAGAAGGTTCACTAGTGTCACCCACTTGGGTTGTCACAGGTAGTAAGCAGAAGCTAACTCATCACCGTAGCCAGGTTTGTGTACTTTGTTTCCAGACACGCTACAGCATAGCACGTTCCAACATCTGATCTTAATCTCATTCTGAAGCACAGTGAGGAATCAAGTGTGCTTGTTCCAGAGCTGATTATGAACTTTCTAGAAAAGCGGGTCATTATATTGCATCCTTTCATAGGAGCTCATTATCACGACCTGAAAGATACCTACTTTACCTTCCCTCCAAAATATCACATTTGAAACTAACCCAAACTTTTGAGAAAGCAATTTTAATGGGGTATAACTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTA
TGGGTTGAGTGCTCAAGCCAAGTGTGGAAATGCAAGTCACTGCTTCGGCAGATTGCAAGCTGCCCAATATAATCTAAGAGCCTTCTATGCCAGCCTGCAGACTGGAGAAGGTTCACTAGTGTCACCCACTTGGGTTGTCACAGGTAGTAAGCAGAAGCTAACTCATCACCGTAGCCAGGTTTGTGTACTTTGTTTCCAGACACGCTACAGCATAGCACGTTCCAACATCTGATCTTAATCTCATTCTGAAGCACAGTGAGGAATCAAGTGTGCTTGTTCCAGAGCTGATTATGAACTTTCTAGAAAAGCGGGTCATTATATTGCATCCTTTCATAGGAGCTCATTATCACGACCTGAAAGATACCTACTTTACCTTCCCTCCAAAATATCACATTTGAAACTAACCCAAACTTTTGAGAAAGCAATTTTAATGGGGTATAACTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGCGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTA
Task1_train_25554
With a mutation on Chromosome 17 in gene H3-3B (H3.3 histone B), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Neurodevelopmental disorder
TGGGGTATAACTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTACTTCTGAAGAAACATGACAAATGTGTAAATATGCTAATCCCTACCTTTGCCTAAGTAAATGTCTTGGGTAGATTGTAATAGTCAGTTCTTCAGTTGCCTCAAGTATATAAAATACCATAGCAGGCTTAAGGTTAAGACTAGCCAAGCAAAGCCCAGAAAATTGAAATAGAGCCTTGGGCATTCTACTCTATAGTTCTGATGCTGGTCCAGCAAATATTCTAAACTATTAAAAGAAAAAGTAGCAGATACAGGTATGCATAGGTTTCAACTAAATTAATTTTTTTTTTTGAGACGGAGTCTGACTCTGTCGCCCAGGCTGGTGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCG
TGGGGTATAACTTTAAGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCTGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTACTTCTGAAGAAACATGACAAATGTGTAAATATGCTAATCCCTACCTTTGCCTAAGTAAATGTCTTGGGTAGATTGTAATAGTCAGTTCTTCAGTTGCCTCAAGTATATAAAATACCATAGCAGGCTTAAGGTTAAGACTAGCCAAGCAAAGCCCAGAAAATTGAAATAGAGCCTTGGGCATTCTACTCTATAGTTCTGATGCTGGTCCAGCAAATATTCTAAACTATTAAAAGAAAAAGTAGCAGATACAGGTATGCATAGGTTTCAACTAAATTAATTTTTTTTTTTGAGACGGAGTCTGACTCTGTCGCCCAGGCTGGTGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCG
Task1_train_25555
Gene H3-3B (H3.3 histone B) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Bryant-Li-Bhoj neurodevelopmental syndrome 2
AGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTACTTCTGAAGAAACATGACAAATGTGTAAATATGCTAATCCCTACCTTTGCCTAAGTAAATGTCTTGGGTAGATTGTAATAGTCAGTTCTTCAGTTGCCTCAAGTATATAAAATACCATAGCAGGCTTAAGGTTAAGACTAGCCAAGCAAAGCCCAGAAAATTGAAATAGAGCCTTGGGCATTCTACTCTATAGTTCTGATGCTGGTCCAGCAAATATTCTAAACTATTAAAAGAAAAAGTAGCAGATACAGGTATGCATAGGTTTCAACTAAATTAATTTTTTTTTTTGAGACGGAGTCTGACTCTGTCGCCCAGGCTGGTGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTA
AGCAGTTGCTAACTTCAAACGTGGAACGCTTTGATGACTGCTGGCTCTCATGCTGTCTCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGGGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTACTTCTGAAGAAACATGACAAATGTGTAAATATGCTAATCCCTACCTTTGCCTAAGTAAATGTCTTGGGTAGATTGTAATAGTCAGTTCTTCAGTTGCCTCAAGTATATAAAATACCATAGCAGGCTTAAGGTTAAGACTAGCCAAGCAAAGCCCAGAAAATTGAAATAGAGCCTTGGGCATTCTACTCTATAGTTCTGATGCTGGTCCAGCAAATATTCTAAACTATTAAAAGAAAAAGTAGCAGATACAGGTATGCATAGGTTTCAACTAAATTAATTTTTTTTTTTGAGACGGAGTCTGACTCTGTCGCCCAGGCTGGTGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTA
Task1_train_25556
Chromosome 17 houses a mutation in gene H3-3B (H3.3 histone B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
TCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGACTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTACTTCTGAAGAAACATGACAAATGTGTAAATATGCTAATCCCTACCTTTGCCTAAGTAAATGTCTTGGGTAGATTGTAATAGTCAGTTCTTCAGTTGCCTCAAGTATATAAAATACCATAGCAGGCTTAAGGTTAAGACTAGCCAAGCAAAGCCCAGAAAATTGAAATAGAGCCTTGGGCATTCTACTCTATAGTTCTGATGCTGGTCCAGCAAATATTCTAAACTATTAAAAGAAAAAGTAGCAGATACAGGTATGCATAGGTTTCAACTAAATTAATTTTTTTTTTTGAGACGGAGTCTGACTCTGTCGCCCAGGCTGGTGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTTGATCTCCTGACC
TCACTGACATCCACGTACTATGCTTTAGTGGCCATCATCGCACAAGGAAACTGGTTTCATACTGAAGTTTAAGACTGAGTTCTACACCTGTGGGCTTCTACACTACGGAACGGGAGTGGGGGGGCTGAAAAGCTTATTAATATACTTTGTCTTAGCCCACACTGCAAATACAGCACTATTATGGCATCTTAATCAAGCAGAGAGCTGTTCACATGCTTTCTACAGTATCTTTATAAATAAAAGGTTCCTTTATCCACCAAACAACACCTGAAATGATCTAAGTTCAAAACATTAGTATACAAGGACCTAGATAATGGGACATGTGAAAACTTAGTACATTCAATTTAGGTTTTGGACACTTAGTTGGATAAACAAGTTTATTTGTAAATTTAGTCAACATACATAATTGACCTAAAAACTTCAGTAAATTTTAAAACCACTTGGAAGGCCATCTCTATAAAAATGATTTTCCCAGGACAGTAACCAGATGTAACCTAACCCAACACCATCTTAATTGGCAGAGGTTCAGTGGGCTGGAGTTTTGTGCTCCTCCCCCACACCAAGTTTTTATAATACAAATGCCACAAGAAAAAGAACTTCGGTACTGTTTCCTCAGCAGAGGAGAAAAACTCAACCTAGTTATGAGACCAACCACACAACACAATGAAAAGCTGCACTAACTAGTTCAGAATGTTAGTTAAGATGATGCTGGTGTGAATAACTCGTTTTTTCTAGAGCCCTTATAAATAAAATCCCCCAGTTAGTGTTTGCATTATCAGCTAGAGGGTTAACATGTGGTAGAATGAGGACTTATGCAAGGTATAAATGCGCATAGCATTTTACTACTATGAGAACAAGTGCAGTCAGAAGAAAACCAACTGGACTCTAAATTACACACACCTTAATGACAAGACTCCCCACCACTTGTGAATGTAAAACATTTAATTTAAAAATGTTGATACTACAATATATAAAATAGCTATTATAAATGCACATAGTGTATTCTATAGCTGCCAGGTTTACTTTTTTTTTTTTTAAAGGAAACTGTAAGTTACACTGTGGTTAAGACTTGTATCTTCACCCTTGAAAAAGCCCACATTCTATCACAGTGATGTATGGTCAGACTTAACAGCCCCAATTGTTAAACACTTGGATCAAGTCATAACCAGTTTTATTGCAAAAGGACCCTGTACACATTTATCAACTCTAGTACCTTAATAGCTACCCAACAAGTCATTAACATACAGAAACATGCATCATGAGAAGCAAGAAGTATCACCCATCCCTTCTGCATATTAGCAACTTGTCACTCCTGAGCAACAGTGCTCACATCACTGAGGTCTGTGAACAGTCACTTTTCGCATTCATCCTGAGTGAAAGATGGAATGACTTAAGTACAAATGCAACATATTATAAACAATTTCTTACAAAAAAAGTCACAAATTAAACCAAAGTATTTTACAGAATTTACTACAAAACGCCATAAAAACTGCCTTCACTTAAGCTCTCTCTCCCCGTATCCGGCGAGCCAACTGGATGTCTTTGGGCATGATGGTGACTCTCTTAGCGTGGATGGCACACAGGTTGGTATCTTCGAACAGACCCACCAGGTACGCTTCGCTAGCCTCCTGTTGAGGACGAGAGCCGCACTATTAATCCCACTCGGGGAGCGGAAACCGCCCAGCCCTCCCCCGGCTCCAGGCCTTTGTCTTACCTGCAGCGCACCGATGGCTGCGCTCTGAAACCTCAGGTCGGTTTTGAAATCCTGCGCGATCTCCCTCACCAACCTCTGGAAGGGCAGCTTCCGGATGAGCAGCTCGGTCGACTTCTGATAACGACGAATCTCTCGAAGCGCCACGGTCCCGGGCCTGCAGCGAGCAGGGGAGGAGTGAGCGGACGCTGCCGCACAAAGCCGGCCACCGCCGGGCCATTGTTCCCCCGCCCGACCTACCTGTAGCGATGAGGCTTCTTCACCCCGCCGGTAGAGGGAGCGCTTTTCCTGGCGGCTTTCGTGGCCAGCTGTTTGCGGGGGGCTTTCCCACCGGTGGGCTTACGAGCAGTCTGCTTGGTTCGGGCCATTTTCTTTCACCTAAGAAAGACGCCCCGAAGATAAGGCCGCCGCGCTCACCCGGGCCGCCCCCCAGGGCTGCGGGGGGAGGAACAGATCCTGGCCCCACCGCCGGGCCTCCCGCCTCCCCGCGCCCCACCTCGCGGCAGCAGATGGCCGAGGGCCGCCAACCTCCTCCCCCTCCCCTAATGACTCAGGCTGCGAGGAGCGGCAGCCTCCCCCGGGAGGGGGAGCGCGGGGAGGAGTCACTTCCCTTCCTCGACGGGCGGAGGCCCGACTGCCCGGAACCCGGCGTCGGGACCTCTGAATCACCGCCGGGAAAAGGCGGGGACACAGTTCCGGAACAAAGCCCCAAGGGGAAACCTCCCGGCCCCATACCCGACCCGACGCCAGCGGCCCGAGCAGCCCCCGCCGCTCGGCTCCCAACGGCCGCGGCGCGCGGCGCCAACGGTTGGCAGAACCTGAAGCCGCGGGTAAACCTACGAACGCCTACCCAACGCCGAAGTTTTAGGCCACTTCTCCGACCGCCGCGCCGCTTCCGCTGCCCGAGGAAGAGCCGCAGTCGACGAGCGAAAAACCAGCACCGCCCAACGAACGACCAAACCGCTCTGCGCTCCAAGCCCCCGCGTCGCCTCCGTTTTTATAGGCACGCTTCACGCTGCGTCTCTGCGTCATAGAACCCTTATTTGCATACACCAACGACTTTTTCTATTGGTGGGCGCTTTCGCCGACGCGCTGACATCCCCCGACACAAAGGCCGTGCTTCGGCACTGTTCCATGATTGGTGCATATCTACGCCGCTGATTGGCTGTTAAAGTGGCCTAATGATTGGATGGATGCAAAGAGGAATGGACGAATCAGAGTTTAGCACTAAGCGGCCCTTCTGATTGGATAAAATGGAGCTATGTTTGGATCCTTCCCTTGGTTCCAAAGCTCTGCAATAGAAAGTCAATGCAAATGAATTGCATTGGTCTCTATCAGAATGAGCAGGAGTCTAAACTCACAGGCATCAAGCGAATGCTATGCACCCAGAGAGGCTACTTTAACAAAATTTTTGTAAATATTTTCCGATGTAAAATAAAATGTGTTCCCTGGATTATTTACCTTTCATAATATTTTGATAGTTAAGTGCGTAGTGTGAGAATTAGAATTCAGTAAATCATGTTATATTATCAAGTATTTCATATATCATGCACATACATTTTTAACAAAAAGCAGGTCTCTTGGTGGGGTGGGAAGGGGTAAATAATAAATACAAATAAACATGTTAATAAATTATTTTAGAGGAACTGTTTTGTATGTTTTTAAGGTGTCACAAAATATTTTTTGATTTCCATATGCTTAAACAAGAGGTAACTTACTAAGCAACATGTTACTTGAATTATGTACTTCAAGTGAATGAAATGACTACAGCTAGAAAGTAAATAGTCCTACTATAGTATTTGCATGTCCATAAAGAATAAACAAAAGATAACTAAACTAGATATGTGCCCTTTTGTTTAATAGCATATCCTGGCAGGTATTACTTCTGAAGAAACATGACAAATGTGTAAATATGCTAATCCCTACCTTTGCCTAAGTAAATGTCTTGGGTAGATTGTAATAGTCAGTTCTTCAGTTGCCTCAAGTATATAAAATACCATAGCAGGCTTAAGGTTAAGACTAGCCAAGCAAAGCCCAGAAAATTGAAATAGAGCCTTGGGCATTCTACTCTATAGTTCTGATGCTGGTCCAGCAAATATTCTAAACTATTAAAAGAAAAAGTAGCAGATACAGGTATGCATAGGTTTCAACTAAATTAATTTTTTTTTTTGAGACGGAGTCTGACTCTGTCGCCCAGGCTGGTGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGACTCAGCCTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTTGATCTCCTGACC
Task1_train_25557
Given this variant in gene UNC13D (unc-13 homolog D) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Familial hemophagocytic lymphohistiocytosis 3
CCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGACAGGGCTGGCTTCACAGGCGTGCTTCCCCGACCCCACCCCCCATGCGGGCACACAGGGCCCCTGTGCTTAGGAGGACCCAGGCTTGGTTTCAGGTTCTGTCGTCACCGTTCTAAAATTTGTAATAACTTTTGAATAAGGGGCCCAGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGC
CCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGACAGGGCTGGCTTCACAGGCGTGCTTCCCCGACCCCACCCCCCATGCGGGCACACAGGGCCCCTGTGCTTAGGAGGACCCAGGCTTGGTTTCAGGTTCTGTCGTCACCGTTCTAAAATTTGTAATAACTTTTGAATAAGGGGCCCAGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGCAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGC
Task1_train_25558
Gene UNC13D (unc-13 homolog D) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Familial hemophagocytic lymphohistiocytosis 3
CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTT
CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCCCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTT
Task1_train_25559
Consider this mutation in UNC13D (unc-13 homolog D) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Familial hemophagocytic lymphohistiocytosis
CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTT
CGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCCCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTT
Task1_train_25560
Mutation context: Chromosome 17, Gene UNC13D (unc-13 homolog D). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Familial hemophagocytic lymphohistiocytosis 3
TTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAATTGGATTAGCTGGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTTGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACCAAAAATACAAAATTTAGCCAGGTGTGATGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGTGCCATGGCACTCCAGCCTGGGCGACAAGAGGGAAACTCCAGCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAATAGGATCTATGAACCTGAGCCTTCGTGCACATGTGGCAAGCATCAGTGAGAACTTCCTTTCAGATGGTTTGGGGGGATATCACACAAACGAGGTCCCGTGGGAGGGCAGAGGATGGGGGAGAGGAGCAGCCTGGGGACAGGCCGAAGTCCCTATTGGACACTGCAGCCACCTGCATTACTGTGCTTGGGCCCTGCAGGCAAACCAGGTCCCTCCCCATCTGGTGCCTGCTCCAGTCTCCAGCCGCACCACCATTCCACCCTTGTCTCCGAATCACCCACCTGCCTGAGGTCCTAGCAGTACACAAGCTGACCCCAGCCCAGAAATGCACTCCCCTGGGCTCCCTCCGCCTCCCACTCAGACTCCAAGTCACAGCCCAGGCCTGAGTCGGCATCCTGCTCCTGTTCCTCCCCTGGCCAGCACTTGGCTGTGTCCCATCTCTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTC
TTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCGGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAATTGGATTAGCTGGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTTGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACCAAAAATACAAAATTTAGCCAGGTGTGATGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGTGCCATGGCACTCCAGCCTGGGCGACAAGAGGGAAACTCCAGCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAATAGGATCTATGAACCTGAGCCTTCGTGCACATGTGGCAAGCATCAGTGAGAACTTCCTTTCAGATGGTTTGGGGGGATATCACACAAACGAGGTCCCGTGGGAGGGCAGAGGATGGGGGAGAGGAGCAGCCTGGGGACAGGCCGAAGTCCCTATTGGACACTGCAGCCACCTGCATTACTGTGCTTGGGCCCTGCAGGCAAACCAGGTCCCTCCCCATCTGGTGCCTGCTCCAGTCTCCAGCCGCACCACCATTCCACCCTTGTCTCCGAATCACCCACCTGCCTGAGGTCCTAGCAGTACACAAGCTGACCCCAGCCCAGAAATGCACTCCCCTGGGCTCCCTCCGCCTCCCACTCAGACTCCAAGTCACAGCCCAGGCCTGAGTCGGCATCCTGCTCCTGTTCCTCCCCTGGCCAGCACTTGGCTGTGTCCCATCTCTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTC
Task1_train_25561
This mutation occurs in WBP2 (WW domain binding protein 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hearing loss, autosomal recessive 107
TGCTGGGCAGGGACAGCCCTGTGCCCCTGCCCCCACCTTGGCAGTCAGGACAGTGCTCCCTTCAGACACCCTTGAAGGGGGCTTAGCCAAGTCCCAGAGAGCTCTGGGCCAGGCTGGCCAGGAGGAGGAGGCAGAGGGGCTGCTGCCCGATCTCTCCTGAGGACAGACTTGGCTCCCGGGGGACAGGAAAATGCGCCTCAGCATGGGGCTTTCCTAGAGCTCTGTGGCCTGCCCACCCTGTGCCCAGTGCTGGGCTGGGGGACTTGCGGGCGTGTGGGCCTGGTCACGGCCTTTGGCCATTTCCCACCCTCCTGTCCCTTCAAGTTCACAGCAGGGCACGTGACGTGGGTGGTGGCAAGCCGGCTTGGCTACCTCAGTGTCCCTGTCACAGGTCCTGACGTGCTCCAGGGCTGACTCGGCCTCCTCCCTCCAGCAACCAGGACTTAGGCCAGGGCTGCCATTCCTCGAGGAGCCAGCAGGGGACAAGGTGGCAGCCCCAACTCCTCCCTTCAAGGCCAACTCTGGGCCACATCCACCTCTGTCCCAGCCAGGCCCTGGGGACTCAGTGGGGGAGGGACACAGCTGCTGAGCGACAACCGTTAAGAACCAGCTCCAGAGGCCAGAGCTGTCTTGGGGACCAGACAGGCTGGCTGGGCCGTGAGAATGGGGATCCTCCCATGGGAGGGAACCGTCCCAGAAGTCTCCAGGGCCCTCAGCGGCCAGACGGCTCTCCTTCCGGAAGAGACCCCCGGGTCACCACACGCAGAGCCAGAAAGGGTCCAGTTATTTCATTTTTACTATTTCACATTTTCAGCAAACAAATCGAGGTGCAAACAGGGTTTATTTCACATTAATATATTAACTGGATTTTTTGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTGAGCAGGGTCTGGCAGGGCCCGGGAAGACACCTGGCTGGTCTGAAGTGGCTCATGAGGCTGAGTGTAGCAGTGGGTGCCAGACTGAGGGAGCTGGACTGCGGTGGAGGAGGTGGCCAGAGAGTCCCTTCGAGGGGAGAAGCTGAGAGTGAAACAGGAACAGGGGATGCTCCGTGCTCCCAGAAGAGCCCCAGACGGTGAGGGAGGTACGCTGGGCAGCACTGTGGGCTCCGGGCTGGCATGGGAAGCTGGGCGGCACCTCTCCCGAGGCCGGGGGCCCTAATGTCCCACAATGCTAGTTCCTGGTAATTGTTTATGATCAGACCTGGAGGGAGAACAAGGCGCCCCCTCCCCTCCCCAAGCCCCAGCACAGCCCCGATGGGAGGGGTAGGGTAGAGAGATGAGGGTGGGAGGCAGGGAGGCAGGAGGGCCTACTGGGTCTTCTTATCTTCCGGTGGGTAGTAGGGAGGTGGCGGCGGCTGGCTCTAAAGAAGGGAGAAAGGAGAGACTTGCATTAGAAGGTTTAAAACATGGTGCGGTCATCCCCCTGCGGCTCCCAGCATCTGCGGCTGTGGGGCTGCACCGGCACTGCCAAGCCCTCTCACCGTGGGCATGTAGACGTTGTGAGGATTGCCTGGGTTGTAATAGGCGCTGGCGGCTGCTTCTGCGGCCTTGGCTTCGGCTGTGAGAGCAAACACACCTGGTGTCGGTGACAAGTTCTCCTCCCCCTGAGCTCAGCTAAGAGACCCCGGGCCCCCATGGCTCGGGGCAGCTGGTGCTGGGGGTCCAGTTCCACCAATGAGAGCAGCAGGTGAGGTTTCCTGAGCACATGCCACGCGCTGGCACGGTCCTTTCCAGGCCCATCGCATGTCTCACCTCATCTAATCCTTGAGCCAATGCCCCAGGTGCCACTGTGACCGACCAGCTGAGTGTAGATGAGAGGATCGAGAGGCACACAGGGTGACCTTCCCCGCCCAGGGCACATGGATAGCTAAGGGATGGGGGTGGGGCCAGAATCTAGCTCCGCTCCACCAGGCCACAGCCCTGCTGGGCCCCTGGGGTAGTCCAGGGGTCATCCATCATCTGCGGCTCTCAGCAGTCTCTGGCCATTCTGAGGCTCTCTGTGCGACATCGGGGAGGAGAGGGCTGGTCCCGAAGGGCTGCCAGCACCCAAGGGCCCTCACCTGCAGGAGTGGAGGGGACATCGGGGCCGCTGACCGGAGGTTCCATGGGCCCAGGGTAGGGCGGTGGTGGGGGCTGCACGTATCCCATGGCCCCGTCCATCATGGGGGGTCCTGGATAGAACTCTGCTCGGTGAGAGAGTAACAAGGACATGGTGAGCACCCGGCTGCGGCCCCCTCCCGGGTGAGGGGGGCCTCTCCAGCTCCTTCGTTGGTCCTGAAGCAGCTCAAGGAATAAAGTCTCCCTGGCCTGGGGGGAGCCTGGGTAGGTGGGCTCATGAGGGGAGTGGGGGCAGCAAAGGACACACTCACCAGGTGGGGGCGGTGGATAGGGGTAGCCAGGAGGGCAGGGGTACATTCCATTGGCGACTGGCGGGGGATAGACATAGGCCCCGCTGGGCATGTAAGAGTAGCCATAGGCTCCACTGGGGACTTCACCTCTGGAGGCTACGAGTACAAGGGGAAAGAGAAATGAGCGTGGCCTGCCTTGGGGCGGGGAGAGGGCAGCCCCGCTGCCTGCAGATGGGAGCTACTGGGTCTCAGGAATGTGCCCCGCAGACATCCTCTGTCCATCCCACTCCACCCTCCACCCATACTCGGGGGGCCACCTTGGTCAGGGATGAGAGAGGACGGGAGAGGTCAGAGCCAGGGGAAGGCAAGGGAGGTCAAGGGCAAGGCTGGAGGGTGGACAGAGGCCGGGAGGGAGGCTCAGGGCTGGGGTAGGAGTGAGCTGGCGGAGGATGTCTGCTGGCCCATCCCTCGGTCATTTTCAATGGCTGCGGAACCGCAGTCGAATGGTTGGTTTAGTGTTTGTTTTATGAGGCCATAGTAAAGTGTCCTTGAGTCCAAACAGCTTTGTCAAAACGTCATCCACCTGCCCCAGGCAGGGAAACGCAGTCTCTGAGGTACAGGACAGAGCTGATGCCAATGACAGCTTTCCTTCCCAACTCCTAGGCCTGGTCAGCCTGGTGCCCAAACACTTACCTCTTGAGTTCTTGAAAAAGCAAAACGAAAAGGAAGCAAACTCATACCAAACCCCTACATGTTTAGTGTGTCTTTAGCCCCTAATCTTCGGAGCCTGGATACCTTGAGATGCCACCTGGAGCATCCGCTGTCCGAACTCAATGGCGCCCCCTGCCGTGAAAGTCAACTTGTAGGAAGCAGAGCCTTCCCAGCCACCTGAAAGGGGAAGGACAGTGAATAAACAGCACAGGAAAAGAAAACTTATGCCCAAAGAGATGGCTGTTTTCCTCTCCAGGACTTCATCCAACGCCCGGGAGGCCTGCGGGGGCTGGGCCTGCACTGTGATGGGGACTTCCTGGTGCCATGGTTTCCAGCCTGCTGCCTGCATAGGAGCCAGCACTGCAGCCTGGCCTGGCCCTGCTGTACTCGCTTCCCCCTTTGGAACAATGGCCTCTCCTTCCTGGAACAAGCCTGTCCTCCCACCCTTGGCCCAATATGTACACGGGTGCCAAGGCCACATCAAGGTTTCTCTCCGCCCCCAGTCAAGCACTCGGCAGCTTCACAGGAACA
TGCTGGGCAGGGACAGCCCTGTGCCCCTGCCCCCACCTTGGCAGTCAGGACAGTGCTCCCTTCAGACACCCTTGAAGGGGGCTTAGCCAAGTCCCAGAGAGCTCTGGGCCAGGCTGGCCAGGAGGAGGAGGCAGAGGGGCTGCTGCCCGATCTCTCCTGAGGACAGACTTGGCTCCCGGGGGACAGGAAAATGCGCCTCAGCATGGGGCTTTCCTAGAGCTCTGTGGCCTGCCCACCCTGTGCCCAGTGCTGGGCTGGGGGACTTGCGGGCGTGTGGGCCTGGTCACGGCCTTTGGCCATTTCCCACCCTCCTGTCCCTTCAAGTTCACAGCAGGGCACGTGACGTGGGTGGTGGCAAGCCGGCTTGGCTACCTCAGTGTCCCTGTCACAGGTCCTGACGTGCTCCAGGGCTGACTCGGCCTCCTCCCTCCAGCAACCAGGACTTAGGCCAGGGCTGCCATTCCTCGAGGAGCCAGCAGGGGACAAGGTGGCAGCCCCAACTCCTCCCTTCAAGGCCAACTCTGGGCCACATCCACCTCTGTCCCAGCCAGGCCCTGGGGACTCAGTGGGGGAGGGACACAGCTGCTGAGCGACAACCGTTAAGAACCAGCTCCAGAGGCCAGAGCTGTCTTGGGGACCAGACAGGCTGGCTGGGCCGTGAGAATGGGGATCCTCCCATGGGAGGGAACCGTCCCAGAAGTCTCCAGGGCCCTCAGCGGCCAGACGGCTCTCCTTCCGGAAGAGACCCCCGGGTCACCACACGCAGAGCCAGAAAGGGTCCAGTTATTTCATTTTTACTATTTCACATTTTCAGCAAACAAATCGAGGTGCAAACAGGGTTTATTTCACATTAATATATTAACTGGATTTTTTGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTGAGCAGGGTCTGGCAGGGCCCGGGAAGACACCTGGCTGGTCTGAAGTGGCTCATGAGGCTGAGTGTAGCAGTGGGTGCCAGACTGAGGGAGCTGGACTGCGGTGGAGGAGGTGGCCAGAGAGTCCCTTCGAGGGGAGAAGCTGAGAGTGAAACAGGAACAGGGGATGCTCCGTGCTCCCAGAAGAGCCCCAGACGGTGAGGGAGGTACGCTGGGCAGCACTGTGGGCTCCGGGCTGGCATGGGAAGCTGGGCGGCACCTCTCCCGAGGCCGGGGGCCCTAATGTCCCACAATGCTAGTTCCTGGTAATTGTTTATGATCAGACCTGGAGGGAGAACAAGGCGCCCCCTCCCCTCCCCAAGCCCCAGCACAGCCCCGATGGGAGGGGTAGGGTAGAGAGATGAGGGTGGGAGGCAGGGAGGCAGGAGGGCCTACTGGGTCTTCTTATCTTCCGGTGGGTAGTAGGGAGGTGGCGGCGGCTGGCTCTAAAGAAGGGAGAAAGGAGAGACTTGCATTAGAAGGTTTAAAACATGGTGCGGTCATCCCCCTGCGGCTCCCAGCATCTGCGGCTGTGGGGCTGCACCGGCACTGCCAAGCCCTCTCACCGTGGGCATGTAGACGTTGTGAGGATTGCCTGGGTTGTAATAGGCGCTGGCGGCTGCTTCTACGGCCTTGGCTTCGGCTGTGAGAGCAAACACACCTGGTGTCGGTGACAAGTTCTCCTCCCCCTGAGCTCAGCTAAGAGACCCCGGGCCCCCATGGCTCGGGGCAGCTGGTGCTGGGGGTCCAGTTCCACCAATGAGAGCAGCAGGTGAGGTTTCCTGAGCACATGCCACGCGCTGGCACGGTCCTTTCCAGGCCCATCGCATGTCTCACCTCATCTAATCCTTGAGCCAATGCCCCAGGTGCCACTGTGACCGACCAGCTGAGTGTAGATGAGAGGATCGAGAGGCACACAGGGTGACCTTCCCCGCCCAGGGCACATGGATAGCTAAGGGATGGGGGTGGGGCCAGAATCTAGCTCCGCTCCACCAGGCCACAGCCCTGCTGGGCCCCTGGGGTAGTCCAGGGGTCATCCATCATCTGCGGCTCTCAGCAGTCTCTGGCCATTCTGAGGCTCTCTGTGCGACATCGGGGAGGAGAGGGCTGGTCCCGAAGGGCTGCCAGCACCCAAGGGCCCTCACCTGCAGGAGTGGAGGGGACATCGGGGCCGCTGACCGGAGGTTCCATGGGCCCAGGGTAGGGCGGTGGTGGGGGCTGCACGTATCCCATGGCCCCGTCCATCATGGGGGGTCCTGGATAGAACTCTGCTCGGTGAGAGAGTAACAAGGACATGGTGAGCACCCGGCTGCGGCCCCCTCCCGGGTGAGGGGGGCCTCTCCAGCTCCTTCGTTGGTCCTGAAGCAGCTCAAGGAATAAAGTCTCCCTGGCCTGGGGGGAGCCTGGGTAGGTGGGCTCATGAGGGGAGTGGGGGCAGCAAAGGACACACTCACCAGGTGGGGGCGGTGGATAGGGGTAGCCAGGAGGGCAGGGGTACATTCCATTGGCGACTGGCGGGGGATAGACATAGGCCCCGCTGGGCATGTAAGAGTAGCCATAGGCTCCACTGGGGACTTCACCTCTGGAGGCTACGAGTACAAGGGGAAAGAGAAATGAGCGTGGCCTGCCTTGGGGCGGGGAGAGGGCAGCCCCGCTGCCTGCAGATGGGAGCTACTGGGTCTCAGGAATGTGCCCCGCAGACATCCTCTGTCCATCCCACTCCACCCTCCACCCATACTCGGGGGGCCACCTTGGTCAGGGATGAGAGAGGACGGGAGAGGTCAGAGCCAGGGGAAGGCAAGGGAGGTCAAGGGCAAGGCTGGAGGGTGGACAGAGGCCGGGAGGGAGGCTCAGGGCTGGGGTAGGAGTGAGCTGGCGGAGGATGTCTGCTGGCCCATCCCTCGGTCATTTTCAATGGCTGCGGAACCGCAGTCGAATGGTTGGTTTAGTGTTTGTTTTATGAGGCCATAGTAAAGTGTCCTTGAGTCCAAACAGCTTTGTCAAAACGTCATCCACCTGCCCCAGGCAGGGAAACGCAGTCTCTGAGGTACAGGACAGAGCTGATGCCAATGACAGCTTTCCTTCCCAACTCCTAGGCCTGGTCAGCCTGGTGCCCAAACACTTACCTCTTGAGTTCTTGAAAAAGCAAAACGAAAAGGAAGCAAACTCATACCAAACCCCTACATGTTTAGTGTGTCTTTAGCCCCTAATCTTCGGAGCCTGGATACCTTGAGATGCCACCTGGAGCATCCGCTGTCCGAACTCAATGGCGCCCCCTGCCGTGAAAGTCAACTTGTAGGAAGCAGAGCCTTCCCAGCCACCTGAAAGGGGAAGGACAGTGAATAAACAGCACAGGAAAAGAAAACTTATGCCCAAAGAGATGGCTGTTTTCCTCTCCAGGACTTCATCCAACGCCCGGGAGGCCTGCGGGGGCTGGGCCTGCACTGTGATGGGGACTTCCTGGTGCCATGGTTTCCAGCCTGCTGCCTGCATAGGAGCCAGCACTGCAGCCTGGCCTGGCCCTGCTGTACTCGCTTCCCCCTTTGGAACAATGGCCTCTCCTTCCTGGAACAAGCCTGTCCTCCCACCCTTGGCCCAATATGTACACGGGTGCCAAGGCCACATCAAGGTTTCTCTCCGCCCCCAGTCAAGCACTCGGCAGCTTCACAGGAACA
Task1_train_25562
Here’s a variant in WBP2 (WW domain binding protein 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hearing loss, autosomal recessive 107
TGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTGAGCAGGGTCTGGCAGGGCCCGGGAAGACACCTGGCTGGTCTGAAGTGGCTCATGAGGCTGAGTGTAGCAGTGGGTGCCAGACTGAGGGAGCTGGACTGCGGTGGAGGAGGTGGCCAGAGAGTCCCTTCGAGGGGAGAAGCTGAGAGTGAAACAGGAACAGGGGATGCTCCGTGCTCCCAGAAGAGCCCCAGACGGTGAGGGAGGTACGCTGGGCAGCACTGTGGGCTCCGGGCTGGCATGGGAAGCTGGGCGGCACCTCTCCCGAGGCCGGGGGCCCTAATGTCCCACAATGCTAGTTCCTGGTAATTGTTTATGATCAGACCTGGAGGGAGAACAAGGCGCCCCCTCCCCTCCCCAAGCCCCAGCACAGCCCCGATGGGAGGGGTAGGGTAGAGAGATGAGGGTGGGAGGCAGGGAGGCAGGAGGGCCTACTGGGTCTTCTTATCTTCCGGTGGGTAGTAGGGAGGTGGCGGCGGCTGGCTCTAAAGAAGGGAGAAAGGAGAGACTTGCATTAGAAGGTTTAAAACATGGTGCGGTCATCCCCCTGCGGCTCCCAGCATCTGCGGCTGTGGGGCTGCACCGGCACTGCCAAGCCCTCTCACCGTGGGCATGTAGACGTTGTGAGGATTGCCTGGGTTGTAATAGGCGCTGGCGGCTGCTTCTGCGGCCTTGGCTTCGGCTGTGAGAGCAAACACACCTGGTGTCGGTGACAAGTTCTCCTCCCCCTGAGCTCAGCTAAGAGACCCCGGGCCCCCATGGCTCGGGGCAGCTGGTGCTGGGGGTCCAGTTCCACCAATGAGAGCAGCAGGTGAGGTTTCCTGAGCACATGCCACGCGCTGGCACGGTCCTTTCCAGGCCCATCGCATGTCTCACCTCATCTAATCCTTGAGCCAATGCCCCAGGTGCCACTGTGACCGACCAGCTGAGTGTAGATGAGAGGATCGAGAGGCACACAGGGTGACCTTCCCCGCCCAGGGCACATGGATAGCTAAGGGATGGGGGTGGGGCCAGAATCTAGCTCCGCTCCACCAGGCCACAGCCCTGCTGGGCCCCTGGGGTAGTCCAGGGGTCATCCATCATCTGCGGCTCTCAGCAGTCTCTGGCCATTCTGAGGCTCTCTGTGCGACATCGGGGAGGAGAGGGCTGGTCCCGAAGGGCTGCCAGCACCCAAGGGCCCTCACCTGCAGGAGTGGAGGGGACATCGGGGCCGCTGACCGGAGGTTCCATGGGCCCAGGGTAGGGCGGTGGTGGGGGCTGCACGTATCCCATGGCCCCGTCCATCATGGGGGGTCCTGGATAGAACTCTGCTCGGTGAGAGAGTAACAAGGACATGGTGAGCACCCGGCTGCGGCCCCCTCCCGGGTGAGGGGGGCCTCTCCAGCTCCTTCGTTGGTCCTGAAGCAGCTCAAGGAATAAAGTCTCCCTGGCCTGGGGGGAGCCTGGGTAGGTGGGCTCATGAGGGGAGTGGGGGCAGCAAAGGACACACTCACCAGGTGGGGGCGGTGGATAGGGGTAGCCAGGAGGGCAGGGGTACATTCCATTGGCGACTGGCGGGGGATAGACATAGGCCCCGCTGGGCATGTAAGAGTAGCCATAGGCTCCACTGGGGACTTCACCTCTGGAGGCTACGAGTACAAGGGGAAAGAGAAATGAGCGTGGCCTGCCTTGGGGCGGGGAGAGGGCAGCCCCGCTGCCTGCAGATGGGAGCTACTGGGTCTCAGGAATGTGCCCCGCAGACATCCTCTGTCCATCCCACTCCACCCTCCACCCATACTCGGGGGGCCACCTTGGTCAGGGATGAGAGAGGACGGGAGAGGTCAGAGCCAGGGGAAGGCAAGGGAGGTCAAGGGCAAGGCTGGAGGGTGGACAGAGGCCGGGAGGGAGGCTCAGGGCTGGGGTAGGAGTGAGCTGGCGGAGGATGTCTGCTGGCCCATCCCTCGGTCATTTTCAATGGCTGCGGAACCGCAGTCGAATGGTTGGTTTAGTGTTTGTTTTATGAGGCCATAGTAAAGTGTCCTTGAGTCCAAACAGCTTTGTCAAAACGTCATCCACCTGCCCCAGGCAGGGAAACGCAGTCTCTGAGGTACAGGACAGAGCTGATGCCAATGACAGCTTTCCTTCCCAACTCCTAGGCCTGGTCAGCCTGGTGCCCAAACACTTACCTCTTGAGTTCTTGAAAAAGCAAAACGAAAAGGAAGCAAACTCATACCAAACCCCTACATGTTTAGTGTGTCTTTAGCCCCTAATCTTCGGAGCCTGGATACCTTGAGATGCCACCTGGAGCATCCGCTGTCCGAACTCAATGGCGCCCCCTGCCGTGAAAGTCAACTTGTAGGAAGCAGAGCCTTCCCAGCCACCTGAAAGGGGAAGGACAGTGAATAAACAGCACAGGAAAAGAAAACTTATGCCCAAAGAGATGGCTGTTTTCCTCTCCAGGACTTCATCCAACGCCCGGGAGGCCTGCGGGGGCTGGGCCTGCACTGTGATGGGGACTTCCTGGTGCCATGGTTTCCAGCCTGCTGCCTGCATAGGAGCCAGCACTGCAGCCTGGCCTGGCCCTGCTGTACTCGCTTCCCCCTTTGGAACAATGGCCTCTCCTTCCTGGAACAAGCCTGTCCTCCCACCCTTGGCCCAATATGTACACGGGTGCCAAGGCCACATCAAGGTTTCTCTCCGCCCCCAGTCAAGCACTCGGCAGCTTCACAGGAACAAGCCCACTCAGCAACAGCCGACCTTAAAATTCAGAGCAGACCTCTCGTCCTAAGGGGGCCCAAGGACAGACTCCGGCCCCTCTAGCCTGGCTTCTGCCCAAAGGGGGACCAAGAGTGTCTCAATAGCAAGGGCGGGCCTGGCTGGGTGTCAAGGGGAAGGCAAGTTCAATGCAGAGGTCTCTGGGGCCTGCCAAAAAGCCAGCCCCAAAGCAGGGTGACTCTGGCTTCCCAGAGGCAGCTGCCTCTTCCTGGCTCTCATGAAAAGGCCCCTCTCAAGAACCTGATGCAGCTCCTTCCTGAGTCTAAAATTTGTATGCGCTCGCCAAGTTGCACTAAGCATCTTGACTCAGTCCGCAGGCTTCTGCAGACTTCACGCTCTGAAAAGCTGATCTGAGCTGCTGTCTTTCATGCCAGCATTTTCCCCACCTCTTGGCAATCAAACCCCACCAGCTGGCAGCCCAGAGCTGGGAAGAGGTCATGGCTAGGGCGATAAGGGTCTGAAGGGGACGCCCCCACGGCGGCAGTCAGAGGTTCCCAGGACACCTCCCTGCAGGCCCCATGCGTGTCCCTGAGTTCCCATCACCTACCTCCCGCTTCCGCCTTCACTGTTCCCTTGATGTAGTTTGCACCAAATACGGGCTGCTTGATCTCACAGTCTTTCATGAGATAAAATGGCATCATGAAGGACTGCATGGCATCCTTGCCCTTGGACAGAAAGATGACCTGCAGGGAGAGAGGGTGAGGCCATCAGTACTAGAAGCACAGCCCACGCTGCCATGCTTCCCGCCTGCTTCCTGGGAGTGACGAATCCTCTCCCAGTGCCAGGGTCCAGCAGCCCCATGGCTCTCTCTGTGCCAGACACTCCTGGAGAG
TGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTGAGCAGGGTCTGGCAGGGCCCGGGAAGACACCTGGCTGGTCTGAAGTGGCTCATGAGGCTGAGTGTAGCAGTGGGTGCCAGACTGAGGGAGCTGGACTGCGGTGGAGGAGGTGGCCAGAGAGTCCCTTCGAGGGGAGAAGCTGAGAGTGAAACAGGAACAGGGGATGCTCCGTGCTCCCAGAAGAGCCCCAGACGGTGAGGGAGGTACGCTGGGCAGCACTGTGGGCTCCGGGCTGGCATGGGAAGCTGGGCGGCACCTCTCCCGAGGCCGGGGGCCCTAATGTCCCACAATGCTAGTTCCTGGTAATTGTTTATGATCAGACCTGGAGGGAGAACAAGGCGCCCCCTCCCCTCCCCAAGCCCCAGCACAGCCCCGATGGGAGGGGTAGGGTAGAGAGATGAGGGTGGGAGGCAGGGAGGCAGGAGGGCCTACTGGGTCTTCTTATCTTCCGGTGGGTAGTAGGGAGGTGGCGGCGGCTGGCTCTAAAGAAGGGAGAAAGGAGAGACTTGCATTAGAAGGTTTAAAACATGGTGCGGTCATCCCCCTGCGGCTCCCAGCATCTGCGGCTGTGGGGCTGCACCGGCACTGCCAAGCCCTCTCACCGTGGGCATGTAGACGTTGTGAGGATTGCCTGGGTTGTAATAGGCGCTGGCGGCTGCTTCTGCGGCCTTGGCTTCGGCTGTGAGAGCAAACACACCTGGTGTCGGTGACAAGTTCTCCTCCCCCTGAGCTCAGCTAAGAGACCCCGGGCCCCCATGGCTCGGGGCAGCTGGTGCTGGGGGTCCAGTTCCACCAATGAGAGCAGCAGGTGAGGTTTCCTGAGCACATGCCACGCGCTGGCACGGTCCTTTCCAGGCCCATCGCATGTCTCACCTCATCTAATCCTTGAGCCAATGCCCCAGGTGCCACTGTGACCGACCAGCTGAGTGTAGATGAGAGGATCGAGAGGCACACAGGGTGACCTTCCCCGCCCAGGGCACATGGATAGCTAAGGGATGGGGGTGGGGCCAGAATCTAGCTCCGCTCCACCAGGCCACAGCCCTGCTGGGCCCCTGGGGTAGTCCAGGGGTCATCCATCATCTGCGGCTCTCAGCAGTCTCTGGCCATTCTGAGGCTCTCTGTGCGACATCGGGGAGGAGAGGGCTGGTCCCGAAGGGCTGCCAGCACCCAAGGGCCCTCACCTGCAGGAGTGGAGGGGACATCGGGGCCGCTGACCGGAGGTTCCATGGGCCCAGGGTAGGGCGGTGGTGGGGGCTGCACGTATCCCATGGCCCCGTCCATCATGGGGGGTCCTGGATAGAACTCTGCTCGGTGAGAGAGTAACAAGGACATGGTGAGCACCCGGCTGCGGCCCCCTCCCGGGTGAGGGGGGCCTCTCCAGCTCCTTCGTTGGTCCTGAAGCAGCTCAAGGAATAAAGTCTCCCTGGCCTGGGGGGAGCCTGGGTAGGTGGGCTCATGAGGGGAGTGGGGGCAGCAAAGGACACACTCACCAGGTGGGGGCGGTGGATAGGGGTAGCCAGGAGGGCAGGGGTACAGTCCATTGGCGACTGGCGGGGGATAGACATAGGCCCCGCTGGGCATGTAAGAGTAGCCATAGGCTCCACTGGGGACTTCACCTCTGGAGGCTACGAGTACAAGGGGAAAGAGAAATGAGCGTGGCCTGCCTTGGGGCGGGGAGAGGGCAGCCCCGCTGCCTGCAGATGGGAGCTACTGGGTCTCAGGAATGTGCCCCGCAGACATCCTCTGTCCATCCCACTCCACCCTCCACCCATACTCGGGGGGCCACCTTGGTCAGGGATGAGAGAGGACGGGAGAGGTCAGAGCCAGGGGAAGGCAAGGGAGGTCAAGGGCAAGGCTGGAGGGTGGACAGAGGCCGGGAGGGAGGCTCAGGGCTGGGGTAGGAGTGAGCTGGCGGAGGATGTCTGCTGGCCCATCCCTCGGTCATTTTCAATGGCTGCGGAACCGCAGTCGAATGGTTGGTTTAGTGTTTGTTTTATGAGGCCATAGTAAAGTGTCCTTGAGTCCAAACAGCTTTGTCAAAACGTCATCCACCTGCCCCAGGCAGGGAAACGCAGTCTCTGAGGTACAGGACAGAGCTGATGCCAATGACAGCTTTCCTTCCCAACTCCTAGGCCTGGTCAGCCTGGTGCCCAAACACTTACCTCTTGAGTTCTTGAAAAAGCAAAACGAAAAGGAAGCAAACTCATACCAAACCCCTACATGTTTAGTGTGTCTTTAGCCCCTAATCTTCGGAGCCTGGATACCTTGAGATGCCACCTGGAGCATCCGCTGTCCGAACTCAATGGCGCCCCCTGCCGTGAAAGTCAACTTGTAGGAAGCAGAGCCTTCCCAGCCACCTGAAAGGGGAAGGACAGTGAATAAACAGCACAGGAAAAGAAAACTTATGCCCAAAGAGATGGCTGTTTTCCTCTCCAGGACTTCATCCAACGCCCGGGAGGCCTGCGGGGGCTGGGCCTGCACTGTGATGGGGACTTCCTGGTGCCATGGTTTCCAGCCTGCTGCCTGCATAGGAGCCAGCACTGCAGCCTGGCCTGGCCCTGCTGTACTCGCTTCCCCCTTTGGAACAATGGCCTCTCCTTCCTGGAACAAGCCTGTCCTCCCACCCTTGGCCCAATATGTACACGGGTGCCAAGGCCACATCAAGGTTTCTCTCCGCCCCCAGTCAAGCACTCGGCAGCTTCACAGGAACAAGCCCACTCAGCAACAGCCGACCTTAAAATTCAGAGCAGACCTCTCGTCCTAAGGGGGCCCAAGGACAGACTCCGGCCCCTCTAGCCTGGCTTCTGCCCAAAGGGGGACCAAGAGTGTCTCAATAGCAAGGGCGGGCCTGGCTGGGTGTCAAGGGGAAGGCAAGTTCAATGCAGAGGTCTCTGGGGCCTGCCAAAAAGCCAGCCCCAAAGCAGGGTGACTCTGGCTTCCCAGAGGCAGCTGCCTCTTCCTGGCTCTCATGAAAAGGCCCCTCTCAAGAACCTGATGCAGCTCCTTCCTGAGTCTAAAATTTGTATGCGCTCGCCAAGTTGCACTAAGCATCTTGACTCAGTCCGCAGGCTTCTGCAGACTTCACGCTCTGAAAAGCTGATCTGAGCTGCTGTCTTTCATGCCAGCATTTTCCCCACCTCTTGGCAATCAAACCCCACCAGCTGGCAGCCCAGAGCTGGGAAGAGGTCATGGCTAGGGCGATAAGGGTCTGAAGGGGACGCCCCCACGGCGGCAGTCAGAGGTTCCCAGGACACCTCCCTGCAGGCCCCATGCGTGTCCCTGAGTTCCCATCACCTACCTCCCGCTTCCGCCTTCACTGTTCCCTTGATGTAGTTTGCACCAAATACGGGCTGCTTGATCTCACAGTCTTTCATGAGATAAAATGGCATCATGAAGGACTGCATGGCATCCTTGCCCTTGGACAGAAAGATGACCTGCAGGGAGAGAGGGTGAGGCCATCAGTACTAGAAGCACAGCCCACGCTGCCATGCTTCCCGCCTGCTTCCTGGGAGTGACGAATCCTCTCCCAGTGCCAGGGTCCAGCAGCCCCATGGCTCTCTCTGTGCCAGACACTCCTGGAGAG
Task1_train_25563
This sequence change occurs on Chromosome 17, altering WBP2 (WW domain binding protein 2). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hearing loss, autosomal recessive 107
AATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTGAGCAGGGTCTGGCAGGGCCCGGGAAGACACCTGGCTGGTCTGAAGTGGCTCATGAGGCTGAGTGTAGCAGTGGGTGCCAGACTGAGGGAGCTGGACTGCGGTGGAGGAGGTGGCCAGAGAGTCCCTTCGAGGGGAGAAGCTGAGAGTGAAACAGGAACAGGGGATGCTCCGTGCTCCCAGAAGAGCCCCAGACGGTGAGGGAGGTACGCTGGGCAGCACTGTGGGCTCCGGGCTGGCATGGGAAGCTGGGCGGCACCTCTCCCGAGGCCGGGGGCCCTAATGTCCCACAATGCTAGTTCCTGGTAATTGTTTATGATCAGACCTGGAGGGAGAACAAGGCGCCCCCTCCCCTCCCCAAGCCCCAGCACAGCCCCGATGGGAGGGGTAGGGTAGAGAGATGAGGGTGGGAGGCAGGGAGGCAGGAGGGCCTACTGGGTCTTCTTATCTTCCGGTGGGTAGTAGGGAGGTGGCGGCGGCTGGCTCTAAAGAAGGGAGAAAGGAGAGACTTGCATTAGAAGGTTTAAAACATGGTGCGGTCATCCCCCTGCGGCTCCCAGCATCTGCGGCTGTGGGGCTGCACCGGCACTGCCAAGCCCTCTCACCGTGGGCATGTAGACGTTGTGAGGATTGCCTGGGTTGTAATAGGCGCTGGCGGCTGCTTCTGCGGCCTTGGCTTCGGCTGTGAGAGCAAACACACCTGGTGTCGGTGACAAGTTCTCCTCCCCCTGAGCTCAGCTAAGAGACCCCGGGCCCCCATGGCTCGGGGCAGCTGGTGCTGGGGGTCCAGTTCCACCAATGAGAGCAGCAGGTGAGGTTTCCTGAGCACATGCCACGCGCTGGCACGGTCCTTTCCAGGCCCATCGCATGTCTCACCTCATCTAATCCTTGAGCCAATGCCCCAGGTGCCACTGTGACCGACCAGCTGAGTGTAGATGAGAGGATCGAGAGGCACACAGGGTGACCTTCCCCGCCCAGGGCACATGGATAGCTAAGGGATGGGGGTGGGGCCAGAATCTAGCTCCGCTCCACCAGGCCACAGCCCTGCTGGGCCCCTGGGGTAGTCCAGGGGTCATCCATCATCTGCGGCTCTCAGCAGTCTCTGGCCATTCTGAGGCTCTCTGTGCGACATCGGGGAGGAGAGGGCTGGTCCCGAAGGGCTGCCAGCACCCAAGGGCCCTCACCTGCAGGAGTGGAGGGGACATCGGGGCCGCTGACCGGAGGTTCCATGGGCCCAGGGTAGGGCGGTGGTGGGGGCTGCACGTATCCCATGGCCCCGTCCATCATGGGGGGTCCTGGATAGAACTCTGCTCGGTGAGAGAGTAACAAGGACATGGTGAGCACCCGGCTGCGGCCCCCTCCCGGGTGAGGGGGGCCTCTCCAGCTCCTTCGTTGGTCCTGAAGCAGCTCAAGGAATAAAGTCTCCCTGGCCTGGGGGGAGCCTGGGTAGGTGGGCTCATGAGGGGAGTGGGGGCAGCAAAGGACACACTCACCAGGTGGGGGCGGTGGATAGGGGTAGCCAGGAGGGCAGGGGTACATTCCATTGGCGACTGGCGGGGGATAGACATAGGCCCCGCTGGGCATGTAAGAGTAGCCATAGGCTCCACTGGGGACTTCACCTCTGGAGGCTACGAGTACAAGGGGAAAGAGAAATGAGCGTGGCCTGCCTTGGGGCGGGGAGAGGGCAGCCCCGCTGCCTGCAGATGGGAGCTACTGGGTCTCAGGAATGTGCCCCGCAGACATCCTCTGTCCATCCCACTCCACCCTCCACCCATACTCGGGGGGCCACCTTGGTCAGGGATGAGAGAGGACGGGAGAGGTCAGAGCCAGGGGAAGGCAAGGGAGGTCAAGGGCAAGGCTGGAGGGTGGACAGAGGCCGGGAGGGAGGCTCAGGGCTGGGGTAGGAGTGAGCTGGCGGAGGATGTCTGCTGGCCCATCCCTCGGTCATTTTCAATGGCTGCGGAACCGCAGTCGAATGGTTGGTTTAGTGTTTGTTTTATGAGGCCATAGTAAAGTGTCCTTGAGTCCAAACAGCTTTGTCAAAACGTCATCCACCTGCCCCAGGCAGGGAAACGCAGTCTCTGAGGTACAGGACAGAGCTGATGCCAATGACAGCTTTCCTTCCCAACTCCTAGGCCTGGTCAGCCTGGTGCCCAAACACTTACCTCTTGAGTTCTTGAAAAAGCAAAACGAAAAGGAAGCAAACTCATACCAAACCCCTACATGTTTAGTGTGTCTTTAGCCCCTAATCTTCGGAGCCTGGATACCTTGAGATGCCACCTGGAGCATCCGCTGTCCGAACTCAATGGCGCCCCCTGCCGTGAAAGTCAACTTGTAGGAAGCAGAGCCTTCCCAGCCACCTGAAAGGGGAAGGACAGTGAATAAACAGCACAGGAAAAGAAAACTTATGCCCAAAGAGATGGCTGTTTTCCTCTCCAGGACTTCATCCAACGCCCGGGAGGCCTGCGGGGGCTGGGCCTGCACTGTGATGGGGACTTCCTGGTGCCATGGTTTCCAGCCTGCTGCCTGCATAGGAGCCAGCACTGCAGCCTGGCCTGGCCCTGCTGTACTCGCTTCCCCCTTTGGAACAATGGCCTCTCCTTCCTGGAACAAGCCTGTCCTCCCACCCTTGGCCCAATATGTACACGGGTGCCAAGGCCACATCAAGGTTTCTCTCCGCCCCCAGTCAAGCACTCGGCAGCTTCACAGGAACAAGCCCACTCAGCAACAGCCGACCTTAAAATTCAGAGCAGACCTCTCGTCCTAAGGGGGCCCAAGGACAGACTCCGGCCCCTCTAGCCTGGCTTCTGCCCAAAGGGGGACCAAGAGTGTCTCAATAGCAAGGGCGGGCCTGGCTGGGTGTCAAGGGGAAGGCAAGTTCAATGCAGAGGTCTCTGGGGCCTGCCAAAAAGCCAGCCCCAAAGCAGGGTGACTCTGGCTTCCCAGAGGCAGCTGCCTCTTCCTGGCTCTCATGAAAAGGCCCCTCTCAAGAACCTGATGCAGCTCCTTCCTGAGTCTAAAATTTGTATGCGCTCGCCAAGTTGCACTAAGCATCTTGACTCAGTCCGCAGGCTTCTGCAGACTTCACGCTCTGAAAAGCTGATCTGAGCTGCTGTCTTTCATGCCAGCATTTTCCCCACCTCTTGGCAATCAAACCCCACCAGCTGGCAGCCCAGAGCTGGGAAGAGGTCATGGCTAGGGCGATAAGGGTCTGAAGGGGACGCCCCCACGGCGGCAGTCAGAGGTTCCCAGGACACCTCCCTGCAGGCCCCATGCGTGTCCCTGAGTTCCCATCACCTACCTCCCGCTTCCGCCTTCACTGTTCCCTTGATGTAGTTTGCACCAAATACGGGCTGCTTGATCTCACAGTCTTTCATGAGATAAAATGGCATCATGAAGGACTGCATGGCATCCTTGCCCTTGGACAGAAAGATGACCTGCAGGGAGAGAGGGTGAGGCCATCAGTACTAGAAGCACAGCCCACGCTGCCATGCTTCCCGCCTGCTTCCTGGGAGTGACGAATCCTCTCCCAGTGCCAGGGTCCAGCAGCCCCATGGCTCTCTCTGTGCCAGACACTCCTGGAGAGAGCTTTGGA
AATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTGAGCAGGGTCTGGCAGGGCCCGGGAAGACACCTGGCTGGTCTGAAGTGGCTCATGAGGCTGAGTGTAGCAGTGGGTGCCAGACTGAGGGAGCTGGACTGCGGTGGAGGAGGTGGCCAGAGAGTCCCTTCGAGGGGAGAAGCTGAGAGTGAAACAGGAACAGGGGATGCTCCGTGCTCCCAGAAGAGCCCCAGACGGTGAGGGAGGTACGCTGGGCAGCACTGTGGGCTCCGGGCTGGCATGGGAAGCTGGGCGGCACCTCTCCCGAGGCCGGGGGCCCTAATGTCCCACAATGCTAGTTCCTGGTAATTGTTTATGATCAGACCTGGAGGGAGAACAAGGCGCCCCCTCCCCTCCCCAAGCCCCAGCACAGCCCCGATGGGAGGGGTAGGGTAGAGAGATGAGGGTGGGAGGCAGGGAGGCAGGAGGGCCTACTGGGTCTTCTTATCTTCCGGTGGGTAGTAGGGAGGTGGCGGCGGCTGGCTCTAAAGAAGGGAGAAAGGAGAGACTTGCATTAGAAGGTTTAAAACATGGTGCGGTCATCCCCCTGCGGCTCCCAGCATCTGCGGCTGTGGGGCTGCACCGGCACTGCCAAGCCCTCTCACCGTGGGCATGTAGACGTTGTGAGGATTGCCTGGGTTGTAATAGGCGCTGGCGGCTGCTTCTGCGGCCTTGGCTTCGGCTGTGAGAGCAAACACACCTGGTGTCGGTGACAAGTTCTCCTCCCCCTGAGCTCAGCTAAGAGACCCCGGGCCCCCATGGCTCGGGGCAGCTGGTGCTGGGGGTCCAGTTCCACCAATGAGAGCAGCAGGTGAGGTTTCCTGAGCACATGCCACGCGCTGGCACGGTCCTTTCCAGGCCCATCGCATGTCTCACCTCATCTAATCCTTGAGCCAATGCCCCAGGTGCCACTGTGACCGACCAGCTGAGTGTAGATGAGAGGATCGAGAGGCACACAGGGTGACCTTCCCCGCCCAGGGCACATGGATAGCTAAGGGATGGGGGTGGGGCCAGAATCTAGCTCCGCTCCACCAGGCCACAGCCCTGCTGGGCCCCTGGGGTAGTCCAGGGGTCATCCATCATCTGCGGCTCTCAGCAGTCTCTGGCCATTCTGAGGCTCTCTGTGCGACATCGGGGAGGAGAGGGCTGGTCCCGAAGGGCTGCCAGCACCCAAGGGCCCTCACCTGCAGGAGTGGAGGGGACATCGGGGCCGCTGACCGGAGGTTCCATGGGCCCAGGGTAGGGCGGTGGTGGGGGCTGCACGTATCCCATGGCCCCGTCCATCATGGGGGGTCCTGGATAGAACTCTGCTCGGTGAGAGAGTAACAAGGACATGGTGAGCACCCGGCTGCGGCCCCCTCCCGGGTGAGGGGGGCCTCTCCAGCTCCTTCGTTGGTCCTGAAGCAGCTCAAGGAATAAAGTCTCCCTGGCCTGGGGGGAGCCTGGGTAGGTGGGCTCATGAGGGGAGTGGGGGCAGCAAAGGACACACTCACCAGGTGGGGGCGGTGGATAGGGGTAGCCAGGAGGGCAGGGGTACATTCCATTGGTGACTGGCGGGGGATAGACATAGGCCCCGCTGGGCATGTAAGAGTAGCCATAGGCTCCACTGGGGACTTCACCTCTGGAGGCTACGAGTACAAGGGGAAAGAGAAATGAGCGTGGCCTGCCTTGGGGCGGGGAGAGGGCAGCCCCGCTGCCTGCAGATGGGAGCTACTGGGTCTCAGGAATGTGCCCCGCAGACATCCTCTGTCCATCCCACTCCACCCTCCACCCATACTCGGGGGGCCACCTTGGTCAGGGATGAGAGAGGACGGGAGAGGTCAGAGCCAGGGGAAGGCAAGGGAGGTCAAGGGCAAGGCTGGAGGGTGGACAGAGGCCGGGAGGGAGGCTCAGGGCTGGGGTAGGAGTGAGCTGGCGGAGGATGTCTGCTGGCCCATCCCTCGGTCATTTTCAATGGCTGCGGAACCGCAGTCGAATGGTTGGTTTAGTGTTTGTTTTATGAGGCCATAGTAAAGTGTCCTTGAGTCCAAACAGCTTTGTCAAAACGTCATCCACCTGCCCCAGGCAGGGAAACGCAGTCTCTGAGGTACAGGACAGAGCTGATGCCAATGACAGCTTTCCTTCCCAACTCCTAGGCCTGGTCAGCCTGGTGCCCAAACACTTACCTCTTGAGTTCTTGAAAAAGCAAAACGAAAAGGAAGCAAACTCATACCAAACCCCTACATGTTTAGTGTGTCTTTAGCCCCTAATCTTCGGAGCCTGGATACCTTGAGATGCCACCTGGAGCATCCGCTGTCCGAACTCAATGGCGCCCCCTGCCGTGAAAGTCAACTTGTAGGAAGCAGAGCCTTCCCAGCCACCTGAAAGGGGAAGGACAGTGAATAAACAGCACAGGAAAAGAAAACTTATGCCCAAAGAGATGGCTGTTTTCCTCTCCAGGACTTCATCCAACGCCCGGGAGGCCTGCGGGGGCTGGGCCTGCACTGTGATGGGGACTTCCTGGTGCCATGGTTTCCAGCCTGCTGCCTGCATAGGAGCCAGCACTGCAGCCTGGCCTGGCCCTGCTGTACTCGCTTCCCCCTTTGGAACAATGGCCTCTCCTTCCTGGAACAAGCCTGTCCTCCCACCCTTGGCCCAATATGTACACGGGTGCCAAGGCCACATCAAGGTTTCTCTCCGCCCCCAGTCAAGCACTCGGCAGCTTCACAGGAACAAGCCCACTCAGCAACAGCCGACCTTAAAATTCAGAGCAGACCTCTCGTCCTAAGGGGGCCCAAGGACAGACTCCGGCCCCTCTAGCCTGGCTTCTGCCCAAAGGGGGACCAAGAGTGTCTCAATAGCAAGGGCGGGCCTGGCTGGGTGTCAAGGGGAAGGCAAGTTCAATGCAGAGGTCTCTGGGGCCTGCCAAAAAGCCAGCCCCAAAGCAGGGTGACTCTGGCTTCCCAGAGGCAGCTGCCTCTTCCTGGCTCTCATGAAAAGGCCCCTCTCAAGAACCTGATGCAGCTCCTTCCTGAGTCTAAAATTTGTATGCGCTCGCCAAGTTGCACTAAGCATCTTGACTCAGTCCGCAGGCTTCTGCAGACTTCACGCTCTGAAAAGCTGATCTGAGCTGCTGTCTTTCATGCCAGCATTTTCCCCACCTCTTGGCAATCAAACCCCACCAGCTGGCAGCCCAGAGCTGGGAAGAGGTCATGGCTAGGGCGATAAGGGTCTGAAGGGGACGCCCCCACGGCGGCAGTCAGAGGTTCCCAGGACACCTCCCTGCAGGCCCCATGCGTGTCCCTGAGTTCCCATCACCTACCTCCCGCTTCCGCCTTCACTGTTCCCTTGATGTAGTTTGCACCAAATACGGGCTGCTTGATCTCACAGTCTTTCATGAGATAAAATGGCATCATGAAGGACTGCATGGCATCCTTGCCCTTGGACAGAAAGATGACCTGCAGGGAGAGAGGGTGAGGCCATCAGTACTAGAAGCACAGCCCACGCTGCCATGCTTCCCGCCTGCTTCCTGGGAGTGACGAATCCTCTCCCAGTGCCAGGGTCCAGCAGCCCCATGGCTCTCTCTGTGCCAGACACTCCTGGAGAGAGCTTTGGA
Task1_train_25564
This mutation is located in gene ACOX1 (acyl-CoA oxidase 1) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Acyl-CoA oxidase deficiency
CAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGACAGGGTCTCACTATGTTGCTCAAGTTGGCCTCAAACTCCTAGGCTCAAGTAATCTTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCTACCACACCTGGCCAGTTTCTTTATTCCTTAGGAGTAAAAAGAGTATCAGGGAGTATCAGTGAAAGGCAGTTGTAGGAATAAACTGTGGCTATGAATGCAAAAGGGAAACAAATTTAATGTCACTTTCACCATGCACAATTTACAGTTGCTAGTAGTAATCAGAACTTTCAAACTGCCTTTAGTGTGTTGAACATTTCACTTATAAAGTTCAAGTAATATTATTACTATTTTTCTTAAAAAGTTAAAAATAATAAGGTGGGTATTCTCTTTTTTTCTTTTTTGGCAGTCACTGATTATAGCAAGGGTGGTTATTTCTGTCTTTCCTCTTAAGAAAAGGAAGCCTAGATATGAAATTACAGGCCCAGTTATCACCCTAGCCAATTTTGCAGTGCTAATGCATCTTCTGTATTGACATTTGGGAATTCTGGGATCTGAATGGGGTAAAAACTAGGCCTTTGGTACTGAGCCCATCTAGGACCCTATCCTTACCCTGGCTTGATTTCAGACTGGTGCCTCACAGCGCTGTATCGGATGGCAATGGTGCACGCCTTAGACAGAGCCCGAGCAGCTTCTCCCACAAGGAAGGACCTGACAAACACCATGGTCCCGTAAGTCAGCTTGTTACTCAGCGGTTTCACGTATGTGCCATCAGGCTTCACCTGGAAGAAGAACGTGGAACTGATACTTCCTTCTTTTAAGCCCAAGAGGCAGTTCAGTGGTTCTCAAAGTGTGGTCCCTGGAATAGCAGCATCAGCATCACCTGGCAACTTGCATGAAATACTACATCTTAGTCCCCACCCTGACCAACTGAATCAGAAACTCCAGGGTAGGGCCTAGCAACCTGGGCTTTAACTGGCCTTCCAGGTGATTCTAACGCATGCAAAAGTTTGAGAATCATTGGTTTAGCAAATCAAAATATGTCCTTCAACCCTGACAACTGTTTCTGATTTCACTGTCGCAGTAAAAGAAGCATCAGAGTGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACCAAAAAATGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGGTCCCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAGGGTGAAACCCCACCTCTACTAAAAATACAAAACAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGTGACAGAGACTCTCTCTCTCAAAAAAAAAAAAAAGGGGCATCAGAAGGAAAAATGCATTATTAGCTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTATTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGTGCCATCACACCCGGCTAATCTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGTCAGGCTGGTCTTGAATTCCTGACCTTATGATCCATCCTCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGCGCCCAGCCTTATTCCCTCCTTTTATGAGACGGAGTCTCACTCTGTTGCCAAGCTGGAGTGCAGTGTCATGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATGATCTTCCCGCCTCAGCCTCCCAAAAGTGCTGGAATTACAGGTGTGAGCCACTGCGCCCAGCCTCCTTTTTTTTTTTGAGACAAGGTCTCACTGTCATCTAGGCTGGAGTACGGTGGCATAATCACAGCTCACTGTAGCCTCGGCCTCCCAGGCTCAAGTGATCCTCCCACCCCAGTCTCCCAAGTAGCTGGGACTACACACGTGTGCCACCATACCCAGCTAGATTTTTTTACTTTTTGTAGAGATGGGTTCTCACTATGTTGCCCAGACTGATCTTGAGCTCCTGGGCTCAAGTCATCCACGCACTCAGCCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCA
CAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGACAGGGTCTCACTATGTTGCTCAAGTTGGCCTCAAACTCCTAGGCTCAAGTAATCTTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCTACCACACCTGGCCAGTTTCTTTATTCCTTAGGAGTAAAAAGAGTATCAGGGAGTATCAGTGAAAGGCAGTTGTAGGAATAAACTGTGGCTATGAATGCAAAAGGGAAACAAATTTAATGTCACTTTCACCATGCACAATTTACAGTTGCTAGTAGTAATCAGAACTTTCAAACTGCCTTTAGTGTGTTGAACATTTCACTTATAAAGTTCAAGTAATATTATTACTATTTTTCTTAAAAAGTTAAAAATAATAAGGTGGGTATTCTCTTTTTTTCTTTTTTGGCAGTCACTGATTATAGCAAGGGTGGTTATTTCTGTCTTTCCTCTTAAGAAAAGGAAGCCTAGATATGAAATTACAGGCCCAGTTATCACCCTAGCCAATTTTGCAGTGCTAATGCATCTTCTGTATTGACATTTGGGAATTCTGGGATCTGAATGGGGTAAAAACTAGGCCTTTGGTACTGAGCCCATCTAGGACCCTATCCTTACCCTGGCTTGATTTCAGACCGGTGCCTCACAGCGCTGTATCGGATGGCAATGGTGCACGCCTTAGACAGAGCCCGAGCAGCTTCTCCCACAAGGAAGGACCTGACAAACACCATGGTCCCGTAAGTCAGCTTGTTACTCAGCGGTTTCACGTATGTGCCATCAGGCTTCACCTGGAAGAAGAACGTGGAACTGATACTTCCTTCTTTTAAGCCCAAGAGGCAGTTCAGTGGTTCTCAAAGTGTGGTCCCTGGAATAGCAGCATCAGCATCACCTGGCAACTTGCATGAAATACTACATCTTAGTCCCCACCCTGACCAACTGAATCAGAAACTCCAGGGTAGGGCCTAGCAACCTGGGCTTTAACTGGCCTTCCAGGTGATTCTAACGCATGCAAAAGTTTGAGAATCATTGGTTTAGCAAATCAAAATATGTCCTTCAACCCTGACAACTGTTTCTGATTTCACTGTCGCAGTAAAAGAAGCATCAGAGTGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACCAAAAAATGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGGTCCCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAGGGTGAAACCCCACCTCTACTAAAAATACAAAACAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGTGACAGAGACTCTCTCTCTCAAAAAAAAAAAAAAGGGGCATCAGAAGGAAAAATGCATTATTAGCTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTATTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGTGCCATCACACCCGGCTAATCTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGTCAGGCTGGTCTTGAATTCCTGACCTTATGATCCATCCTCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGCGCCCAGCCTTATTCCCTCCTTTTATGAGACGGAGTCTCACTCTGTTGCCAAGCTGGAGTGCAGTGTCATGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATGATCTTCCCGCCTCAGCCTCCCAAAAGTGCTGGAATTACAGGTGTGAGCCACTGCGCCCAGCCTCCTTTTTTTTTTTGAGACAAGGTCTCACTGTCATCTAGGCTGGAGTACGGTGGCATAATCACAGCTCACTGTAGCCTCGGCCTCCCAGGCTCAAGTGATCCTCCCACCCCAGTCTCCCAAGTAGCTGGGACTACACACGTGTGCCACCATACCCAGCTAGATTTTTTTACTTTTTGTAGAGATGGGTTCTCACTATGTTGCCCAGACTGATCTTGAGCTCCTGGGCTCAAGTCATCCACGCACTCAGCCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCA
Task1_train_25565
This variant lies on Chromosome 17 and affects the gene ACOX1 (acyl-CoA oxidase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Acyl-CoA oxidase deficiency
GCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGACAGGGTCTCACTATGTTGCTCAAGTTGGCCTCAAACTCCTAGGCTCAAGTAATCTTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCTACCACACCTGGCCAGTTTCTTTATTCCTTAGGAGTAAAAAGAGTATCAGGGAGTATCAGTGAAAGGCAGTTGTAGGAATAAACTGTGGCTATGAATGCAAAAGGGAAACAAATTTAATGTCACTTTCACCATGCACAATTTACAGTTGCTAGTAGTAATCAGAACTTTCAAACTGCCTTTAGTGTGTTGAACATTTCACTTATAAAGTTCAAGTAATATTATTACTATTTTTCTTAAAAAGTTAAAAATAATAAGGTGGGTATTCTCTTTTTTTCTTTTTTGGCAGTCACTGATTATAGCAAGGGTGGTTATTTCTGTCTTTCCTCTTAAGAAAAGGAAGCCTAGATATGAAATTACAGGCCCAGTTATCACCCTAGCCAATTTTGCAGTGCTAATGCATCTTCTGTATTGACATTTGGGAATTCTGGGATCTGAATGGGGTAAAAACTAGGCCTTTGGTACTGAGCCCATCTAGGACCCTATCCTTACCCTGGCTTGATTTCAGACTGGTGCCTCACAGCGCTGTATCGGATGGCAATGGTGCACGCCTTAGACAGAGCCCGAGCAGCTTCTCCCACAAGGAAGGACCTGACAAACACCATGGTCCCGTAAGTCAGCTTGTTACTCAGCGGTTTCACGTATGTGCCATCAGGCTTCACCTGGAAGAAGAACGTGGAACTGATACTTCCTTCTTTTAAGCCCAAGAGGCAGTTCAGTGGTTCTCAAAGTGTGGTCCCTGGAATAGCAGCATCAGCATCACCTGGCAACTTGCATGAAATACTACATCTTAGTCCCCACCCTGACCAACTGAATCAGAAACTCCAGGGTAGGGCCTAGCAACCTGGGCTTTAACTGGCCTTCCAGGTGATTCTAACGCATGCAAAAGTTTGAGAATCATTGGTTTAGCAAATCAAAATATGTCCTTCAACCCTGACAACTGTTTCTGATTTCACTGTCGCAGTAAAAGAAGCATCAGAGTGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACCAAAAAATGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGGTCCCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAGGGTGAAACCCCACCTCTACTAAAAATACAAAACAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGTGACAGAGACTCTCTCTCTCAAAAAAAAAAAAAAGGGGCATCAGAAGGAAAAATGCATTATTAGCTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTATTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGTGCCATCACACCCGGCTAATCTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGTCAGGCTGGTCTTGAATTCCTGACCTTATGATCCATCCTCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGCGCCCAGCCTTATTCCCTCCTTTTATGAGACGGAGTCTCACTCTGTTGCCAAGCTGGAGTGCAGTGTCATGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATGATCTTCCCGCCTCAGCCTCCCAAAAGTGCTGGAATTACAGGTGTGAGCCACTGCGCCCAGCCTCCTTTTTTTTTTTGAGACAAGGTCTCACTGTCATCTAGGCTGGAGTACGGTGGCATAATCACAGCTCACTGTAGCCTCGGCCTCCCAGGCTCAAGTGATCCTCCCACCCCAGTCTCCCAAGTAGCTGGGACTACACACGTGTGCCACCATACCCAGCTAGATTTTTTTACTTTTTGTAGAGATGGGTTCTCACTATGTTGCCCAGACTGATCTTGAGCTCCTGGGCTCAAGTCATCCACGCACTCAGCCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTGATGCCTCTGCTTTATTTTCTATCAAAACATACCTGGGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTT
GCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGACAGGGTCTCACTATGTTGCTCAAGTTGGCCTCAAACTCCTAGGCTCAAGTAATCTTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCTACCACACCTGGCCAGTTTCTTTATTCCTTAGGAGTAAAAAGAGTATCAGGGAGTATCAGTGAAAGGCAGTTGTAGGAATAAACTGTGGCTATGAATGCAAAAGGGAAACAAATTTAATGTCACTTTCACCATGCACAATTTACAGTTGCTAGTAGTAATCAGAACTTTCAAACTGCCTTTAGTGTGTTGAACATTTCACTTATAAAGTTCAAGTAATATTATTACTATTTTTCTTAAAAAGTTAAAAATAATAAGGTGGGTATTCTCTTTTTTTCTTTTTTGGCAGTCACTGATTATAGCAAGGGTGGTTATTTCTGTCTTTCCTCTTAAGAAAAGGAAGCCTAGATATGAAATTACAGGCCCAGTTATCACCCTAGCCAATTTTGCAGTGCTAATGCATCTTCTGTATTGACATTTGGGAATTCTGGGATCTGAATGGGGTAAAAACTAGGCCTTTGGTACTGAGCCCATCTAGGACCCTATCCTTACCCTGGCTTGATTTCAGACTGGTGCCTCACAGCGCTGTATCGGATGGCAATGGTGCACGCCTTAGACAGAGCCCGAGCAGCTTCTCCCACAAGGAAGGACCTGACAAACACCACGGTCCCGTAAGTCAGCTTGTTACTCAGCGGTTTCACGTATGTGCCATCAGGCTTCACCTGGAAGAAGAACGTGGAACTGATACTTCCTTCTTTTAAGCCCAAGAGGCAGTTCAGTGGTTCTCAAAGTGTGGTCCCTGGAATAGCAGCATCAGCATCACCTGGCAACTTGCATGAAATACTACATCTTAGTCCCCACCCTGACCAACTGAATCAGAAACTCCAGGGTAGGGCCTAGCAACCTGGGCTTTAACTGGCCTTCCAGGTGATTCTAACGCATGCAAAAGTTTGAGAATCATTGGTTTAGCAAATCAAAATATGTCCTTCAACCCTGACAACTGTTTCTGATTTCACTGTCGCAGTAAAAGAAGCATCAGAGTGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACCAAAAAATGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGGTCCCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAGGGTGAAACCCCACCTCTACTAAAAATACAAAACAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGTGACAGAGACTCTCTCTCTCAAAAAAAAAAAAAAGGGGCATCAGAAGGAAAAATGCATTATTAGCTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTATTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGTGCCATCACACCCGGCTAATCTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGTCAGGCTGGTCTTGAATTCCTGACCTTATGATCCATCCTCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGCGCCCAGCCTTATTCCCTCCTTTTATGAGACGGAGTCTCACTCTGTTGCCAAGCTGGAGTGCAGTGTCATGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATGATCTTCCCGCCTCAGCCTCCCAAAAGTGCTGGAATTACAGGTGTGAGCCACTGCGCCCAGCCTCCTTTTTTTTTTTGAGACAAGGTCTCACTGTCATCTAGGCTGGAGTACGGTGGCATAATCACAGCTCACTGTAGCCTCGGCCTCCCAGGCTCAAGTGATCCTCCCACCCCAGTCTCCCAAGTAGCTGGGACTACACACGTGTGCCACCATACCCAGCTAGATTTTTTTACTTTTTGTAGAGATGGGTTCTCACTATGTTGCCCAGACTGATCTTGAGCTCCTGGGCTCAAGTCATCCACGCACTCAGCCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTGATGCCTCTGCTTTATTTTCTATCAAAACATACCTGGGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTT
Task1_train_25566
A change on Chromosome 17 affects gene ACOX1 (acyl-CoA oxidase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Acyl-CoA oxidase deficiency
CCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTGATGCCTCTGCTTTATTTTCTATCAAAACATACCTGGGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTTGTCCATTTTGAGGTAGCCATTGTCTATCTCATCATAACCAAATTTGGGGCCGATGTCACCAACGGTAATTCCTACCACAGATGAAAGGACAGTCACGAGATGTTTATGCTCTGGAATTTCTGGCTTTTGCTCCGCCTCTTCAGTTGGGCATTCTACCTTTTGCAGAAGAAAGTGCTCAGTTTCATTTTCATCTCAACATCAGATGAACAGTTCTTACCTGGCAAAGGCTTATGGGTCCCGATTTCACGAATAGGTACGATAAAGGCATGTAATCCATAGCATTTCCCCTTAGTGATGAGCTGGGCAAGAACTATTGCATGATTTGAAGTCTTTCCAACTGTAATATCAAAGAGAACAAGGGAGGGGTGGGCAAACGTTCATACATTTTTAAAGGGTAGAAAAAAGAAGAAAGAATATGTTAAATCTAACACTAGACTAAACCAATAGTATGTGTCCAGAAAGCCTTTCTGCTGACAGCATCACACCTAGCTTTCAGAAAGAAATTCCCTTAAGCTAATAGTTATTACTTTCTTTTCTACTTATTTCTCATACATTTACGTAGAGAAAATTTTAGGATAAAAATAAGAATATTAATTTAAACTACTTCCTTGTTATCCCTTAAGGCAGTGCTGTCCAAAACAGTAATCACTAGCTACATGTGGCTTCTTACATATAAATTATAAATAAATAAAATATATAATGTGAATAACAAAATCCTTCAACCACTAACTGTATTGGAAATATATATTCCAAGATAATAACTCAGAATGGAATAAGAAGATATAAAAGTTTCGGGTCAGCCGGGCACGGTGGCTCGCGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGACCAGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAATCCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCACGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCGGAGATCACACCACTGTACTCCAACCTGGGTGACACAGTGAGACTCCATCTCAAAAAAAAAAAAAAGTTTGTGTTAAAACTATTTAAATTTTTTTCTTTTTTTTTTTTAAGAGACAGGGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCACAGATAGTAGCTCACTGCAGGCTTGAACTCTTGGGCTCAAGTGGTCCTCCCACCTCAGCCTCCTGAGTAGCCAGGACTATAGGTCTATAGGTATGTGCCGCTATGCCTGGCTTTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATATATACACACACACACCTCTCTCTGTCTATATACACACACACACACCCCTCTATGTACACACACCACACACACATATATTTGTTTGTTGGGTTGTTTTTGAGACAAAGTCTTGCTGTGATGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCATTGCAACCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCATATTAACCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTAGGATTTCACCACCAAGTCTGGCCGACATTATCATAAAAGCTCTACATTCTAAGCAAAATCTCATGACAAACCTTCAAAACATCCAATAAATGCTGAAAAATTCACTTACGCCCACCAGGCCACCATTTAATGGAGGTCACAGTAGGACTGTTGAGAATGAACTCCTGGGTTTCAGGGTCATACGTGGCTGTGGTTTCCAAGCCTCGAAGGTGAGTTCCTAAGGAGATAAATTACATTGACTTCAGTTAAGAGATGGGGAAAAAAATAGGCACAAGGAAAAATTTCCTGCACAGTCCTTTAAACTCTCATATCTCAGAGAAAAACAAAATCTAACAAAAAACACCTGTAGATGAGCTACAACTGGTTGATAACCAAGACACTGAATTTCCCACACTATCTGATGGTTTCCTATTAAGTTGAAAATCTAAGTGTCATGCATGTTCCATTTCTGTATTTGATTTGTTACATTTATTTACAGCAACTGAAAGAAAATATAAAGGCAACTTAGAATCACATTTTTAAGATCACAATATATGAATTTAACAGGGATGTTAACTGTCTTTTTAAACCCATCTCTGAGTTGCAAGTATGCCAATTTCAAGTCATATGTATTGTGTTAACCACACCAATTCAACATTCTTGAATTCTGTACTAATGAGAAGAATGAGATAACATGTGAGAGGAAGACATTTCAGCCAAAATTCGTATAAATTAAAAATGTATGGCTGTGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATTGTGGCATGCGCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACCGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGGCCAGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGGGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAAGTGGTGAAACCCCGTCTCTACTAAAAAAACAACAAAAAAATTAAAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGGGCGGATCACAAAGTCAGGAGATCGAGACCATCCTGGTTAACACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGTGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCACGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTATAAAAGTATAACTGTTATTGGGGAAATGACCTGAAATGTGACTTTTAAAAATTCCTAAAGGTCCAATAATAAGGTCTCAGTTGACCCTAGAGATTTCCAATGGCAGGCCTAACTTAGTCCTGCTGGTTCATTAATGTGGCAAGGAAGAGTTTCCAGTTTCTTATGTGTACTGGGATAGACAGGATCTTATGTTTTAAATCTTAACACAAATATATCAAAATTATTTGAAAAGAGTCATAGAAAAATGTTCTAGGTGGCAGTCTCTACAAAAATACTGTACTAAAGCAAACGTTGGGAACCTTTTACCAATCTGCTTTCATAACGCTTAGACCTCATTAAACACACTTTGAAACATTTAGAAGCTTCCAAGTTGAATAACCAACTTATGTGCAATCCACAACTTTCCCGAGTGGGAGTCAACAAATCAGACACAGACATCTTTCATCAAAGAAGCAGCTTTTACAGAAAAGCAGATAACATTAAACAGAACAGATAAGGACAAAATGTTTTCAAAAGCACAACTGAAACAAATAGTATTCCACTTGGAGTCTCATGAAAATCCTGTAAAATACTATTCAACACCAAATAAAAAGCAGCAGCTGTATAGAAATAAGGAGCAAGTGGCAAATACACACTAGACCAGTTTTTCTGAAACGTCAGAGCAGAAAAAGAGAAGCCATAAG
CCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTGATGCCTCTGCTTTATTTTCTATCAAAACATACCTGGGCATACTTCATCAGCATGTTTTCTCTGGGAATACGATGGTTGTCCATTTTGAGGTAGCCATTGTCTATCTCATCATAACCAAATTTGGGGCCGATGTCACCAACGGTAATTCCTACCACAGATGAAAGGACAGTCACGAGATGTTTATGCTCTGGAATTTCTGGCTTTTGCTCCGCCTCTTCAGTTGGGCATTCTACCTTTTGCAGAAGAAAGTGCTCAGTTTCATTTTCATCTCAACATCAGATGAACAGTTCTTACCTGGCAAAGGCTTATGGGTCCCGATTTCACGAATAGGTACGATAAAGGCATGTAATCCATAGCATTTCCCCTTAGTGATGAGCTGGGCAAGAACTATTGCATGATTTGAAGTCTTTCCAACTGTAATATCAAAGAGAACAAGGGAGGGGTGGGCAAACGTTCATACATTTTTAAAGGGTAGAAAAAAGAAGAAAGAATATGTTAAATCTAACACTAGACTAAACCAATAGTATGTGTCCAGAAAGCCTTTCTGCTGACAGCATCACACCTAGCTTTCAGAAAGAAATTCCCTTAAGCTAATAGTTATTACTTTCTTTTCTACTTATTTCTCATACATTTACGTAGAGAAAATTTTAGGATAAAAATAAGAATATTAATTTAAACTACTTCCTTGTTATCCCTTAAGGCAGTGCTGTCCAAAACAGTAATCACTAGCTACATGTGGCTTCTTACATATAAATTATAAATAAATAAAATATATAATGTGAATAACAAAATCCTTCAACCACTAACTGTATTGGAAATATATATTCCAAGATAATAACTCAGAATGGAATAAGAAGATATAAAAGTTTCGGGTCAGCCGGGCACGGTGGCTCGCGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGACCAGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAATCCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCACGCTCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCGGAGATCACACCACTGTACTCCAACCTGGGTGACACAGTGAGACTCCATCTCAAAAAAAAAAAAAAGTTTGTGTTAAAACTATTTAAATTTTTTTCTTTTTTTTTTTTAAGAGACAGGGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCACAGATAGTAGCTCACTGCAGGCTTGAACTCTTGGGCTCAAGTGGTCCTCCCACCTCAGCCTCCTGAGTAGCCAGGACTATAGGTCTATAGGTATGTGCCGCTATGCCTGGCTTTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATATATACACACACACACCTCTCTCTGTCTATATACACACACACACACCCCTCTATGTACACACACCACACACACATATATTTGTTTGTTGGGTTGTTTTTGAGACAAAGTCTTGCTGTGATGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCATTGCAACCTTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCATATTAACCAGGCTGGTCTTGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTAGGATTTCACCACCAAGTCTGGCCGACATTATCATAAAAGCTCTACATTCTAAGCAAAATCTCATGACAAACCTTCAAAACATCCAATAAATGCTGAAAAATTCACTTACGCCCACAAGGCCACCATTTAATGGAGGTCACAGTAGGACTGTTGAGAATGAACTCCTGGGTTTCAGGGTCATACGTGGCTGTGGTTTCCAAGCCTCGAAGGTGAGTTCCTAAGGAGATAAATTACATTGACTTCAGTTAAGAGATGGGGAAAAAAATAGGCACAAGGAAAAATTTCCTGCACAGTCCTTTAAACTCTCATATCTCAGAGAAAAACAAAATCTAACAAAAAACACCTGTAGATGAGCTACAACTGGTTGATAACCAAGACACTGAATTTCCCACACTATCTGATGGTTTCCTATTAAGTTGAAAATCTAAGTGTCATGCATGTTCCATTTCTGTATTTGATTTGTTACATTTATTTACAGCAACTGAAAGAAAATATAAAGGCAACTTAGAATCACATTTTTAAGATCACAATATATGAATTTAACAGGGATGTTAACTGTCTTTTTAAACCCATCTCTGAGTTGCAAGTATGCCAATTTCAAGTCATATGTATTGTGTTAACCACACCAATTCAACATTCTTGAATTCTGTACTAATGAGAAGAATGAGATAACATGTGAGAGGAAGACATTTCAGCCAAAATTCGTATAAATTAAAAATGTATGGCTGTGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGTCCATCCTGGCTAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATTGTGGCATGCGCCTGTAGTCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACCGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAGAAAAAGAAAAAGGCCAGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGGGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAAGTGGTGAAACCCCGTCTCTACTAAAAAAACAACAAAAAAATTAAAGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGGGCCAAGGCGGGCGGATCACAAAGTCAGGAGATCGAGACCATCCTGGTTAACACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGTGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCACGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGTATAAAAGTATAACTGTTATTGGGGAAATGACCTGAAATGTGACTTTTAAAAATTCCTAAAGGTCCAATAATAAGGTCTCAGTTGACCCTAGAGATTTCCAATGGCAGGCCTAACTTAGTCCTGCTGGTTCATTAATGTGGCAAGGAAGAGTTTCCAGTTTCTTATGTGTACTGGGATAGACAGGATCTTATGTTTTAAATCTTAACACAAATATATCAAAATTATTTGAAAAGAGTCATAGAAAAATGTTCTAGGTGGCAGTCTCTACAAAAATACTGTACTAAAGCAAACGTTGGGAACCTTTTACCAATCTGCTTTCATAACGCTTAGACCTCATTAAACACACTTTGAAACATTTAGAAGCTTCCAAGTTGAATAACCAACTTATGTGCAATCCACAACTTTCCCGAGTGGGAGTCAACAAATCAGACACAGACATCTTTCATCAAAGAAGCAGCTTTTACAGAAAAGCAGATAACATTAAACAGAACAGATAAGGACAAAATGTTTTCAAAAGCACAACTGAAACAAATAGTATTCCACTTGGAGTCTCATGAAAATCCTGTAAAATACTATTCAACACCAAATAAAAAGCAGCAGCTGTATAGAAATAAGGAGCAAGTGGCAAATACACACTAGACCAGTTTTTCTGAAACGTCAGAGCAGAAAAAGAGAAGCCATAAG
Task1_train_25567
A change on Chromosome 17 affects gene EXOC7 (exocyst complex component 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Neurodevelopmental disorder with seizures and brain atrophy
CATGTCGCCCACCTGCTCCACCCCGTACTTGATGTACTTCTCCGGGTTCTTGGTGAAGGGCACGCTGCCAAACCTGAGGAGGCACTGTGGTCAGGGGACAGGGAGGGCCGACCCCTCCCCAGCTCCACCCTCAGCCTAAGGCACTCCTGATAGTCTTGGAAGGGGTGGCCCTGAGCGATTCCCTGTCTGGCCCCGCCCCAAAGCCCAGGTCGCTGGATCTGCTGCCTAAATCCACCACCCTTCTCCTTTTTCCCTTGAGGAAGAGGAGCTTGAAGAGGCCCACTGGGGCTGTGGGCAGCACAGGCTGGGAGGGGAATGGAGGCCTCACTTCTGTAGAAAGGCCCCGTAGGTCTCCTTGACAATGGTCTTCTGGGCCTGGCGAATCCTGTCCCTCTGCTCTGTGTCTGGAATAGCCCAGGCCTTCTGGATTTTGCACAGTTCTTCGAGGCCATCATTGAAGCCCTGGCCACCAAAAAGGTGAAAAAGGAAGGCACCCAGAGACAAACATTTTGGGTCTGTGTTGCCTCAACAGCAGCAGCAAGCAGTGGAGGGGAGAGGACCCCGACTCACCTTAAAACGCTCCTTGATAATCTGCCGCTCCTTGTCCCGGAGCTGGGAAGCCAGGAGAGATAGCAGAGAAAGCTCACTTCAGAGCAGAGCAGCCTTCCCCCACTCTTCCCCAAACACCCTTGGTCTGGGCCTGTCTCCTGTGTCCTGATGGCCACATGCATCCTTTGCTCTCTGATCCCAGAGGGATGCTTGTCCACTTTTTCCCAGAGACACGACAAAAAGTATCCCGTCTGCCAGACACCCCTTCCCAGCCCAGGTCTTGAGCCCACCTTGACTCCCGGCTGGAACACAGGTAGATTCTTCTCTGCGATGTAATCAGTCACCTTTAACCAGCTGCCAGACAGAAAGAGAAGCATGAGGGCAGAGGGTGGCCTGCCTCAGTGGCCTGGCTTGTTTCGTTTGCTAAATCTCTGGATCTACTTGGTGGGTGGTGGTAGGAAGGGATGTGGGTCACAACTAAGCAAACAACAGGTTTTCTTCCTGGGAAGAGAAAATCTTTAAACTGGTCACTTTTTGAGATAACATTAGGAAACACTTGAGTGTTCAATAAATTGGACAAATACTGTCAACTATACTTCACATCAATATCGTGGCAAACTAAGATGGAGAAACAGATGAGAAAGAAAGGAGTGGAGGGCAGATAAATGAGAAGGAAGAGGTAGACACATTCAAAGGGAAGAAACAAAGCCAGGAAGAAAGAGGACCAGAGAAGCAGCGGGATCCTCACAGAGCAAGGCTCAGCCACGTTCAAGTGCTCTCGCGACCTTGCTCTTCTCCTAGGTAAACATTACCCACGTCTCTGAGAGCCAGCTCTTCAATCATTCTTAGCCTTGACACTTGGCAGACTCCCCTCTAAAGTGGCCATAGTGGGCCCCTAGGAGCAGGTAGTGGTAGAGGAGGGGGCTTCTCTCTCCACCCCGTGAGTTTGATTAGAAACCAAGTGGAGGATTAGGGTCCAGAGGACAGGAGTTCCCCGTGACCGACTCTGTGTCCTGAGGTGCTGAGAAGGAAGAGTGCGTGGTGGCACAGGGGCCCATGCAGGAGCAGGGCGGGCCCAGCCTCTCACCTGCGCTGGTAGGTCTGGATCTGCTGCTCAATGTGCTCCCGGTAGGAGCGCTCAGCAGTCTTCTGTGTCACTGCCACCAGCTGGATCAGTTCAGACCTGGGTCGGGGTAGGGGACAGAGGAGAGGAGGACAGGATTGGCTCCTCAGGCCCAAAGGCTGCGGCAATGCCGGGAGGGCCTCCCATTGCACCCCAAACTCCACAAGCTCTATGGCATCCCACCTTCCGGGTCCTGGGGTGGAGGAGACTGAAGCACCCCCTCCCCTCTCGTCCACAAGAGAAGGAGCCCAGGGGGGCAGGGGCTGGCACAGCTGCACAGCCGAGGGGAAGGTGAGAGCCGCAGACTCACTCCCGCAGGCCACTTACTTCTCCAGGGACTTGAGGATGTAATTGTAGTTGTTGTGCAGGAAGATGGCGCTCAGAGCTGGGTCCTCGTACACCTTGGACTTGCTCAGCAAGTTCAACTGCAGGTTGCCCAGCACTTTACCTGCACAGGGAAAAATGGGGCCACACCCACCATGGCAGTCTGACCCAAACGACCCCACCCCAGGACCCGCGAACGCGCTCCTATCCATCGCTCCTCGTCCTGCCTCAGGAGGCCTTAGCCCAACTCCCCTCAGCCTCTGAACTAGAGGTCAGGTTGTGGTTCCAAAGATCAGATGGCACTTAGGAGAGGGCCCTGGGAATAGCCAGAGAGCACAGACAGAAGGAAGGGAAAGGCAGGGCATGCAGGCAGCAGGGCTGCTGGTCTGCCCGGGAGAACACTCACAGATATAGGTGCTTAGCAGCCGCTTGCTGAACTCAGAGCTGTAGCTGGTGGCCGAAGAGCTGGTCTCTGTGAGAGGAGAAGTCCTGTTATTGCAGTGGCAGCAGCCAAGACCCTCAACGGCCCTTCCCCCAGGCCATGCAGCAGTCTGAGGGGACACTGAGACAGGCCCTGGGCTTCCTTGGGCAGAGCTGGCTGCCTGCTAAGCCACAGGGTGGCCCCTGCCGCAGGAAGCACCAGCCCTGGAGTTTTTGGAACCCAGAGCTGCCCTCTATGATGGGATGGAGCTGGCCCATGTCAGCAGAAAAGCTGGCAGGAAAAGAGTGAGATGCCAGCGCCCTGTCCCCTCCTGCCCCCACCCACCCTGGGTGGTTTCTACAAGGCCCCCTTTTTCCTTTTGTCAACAGCAGAGTCTTAGAATGGGCTCCCCACAGCCTCTCCACCTTCTCCCCTACATTCGAACATCCCCTCTACCAGACCCTACTGAACAGACGAAGCTGCGGCCTGCACAGTGGGGAAGGCCGAGTGGGGACAGCAAGGCAGGGAGGCCGGGCGAGCCTAGGGGGTGTATCCAGGGCTCTAGCCTGGGCAGGTGCTGCGGATAAGCTCAGAGACAGAGTGGCCTTGAAGGGAGCAGAGAGAGTTGAGAGCACCCCGAGAAAACTCATGTCCCCTCTGACTCAGGCTCCCCAGTAGGTACTGAGAGTCAGTCCCCAGGGAACCTCACCCACCAAGCTTCAGAGGGACAGGAGGGGGCTGCAGAACCGCACTGCTTACCTCGGGGGTCTAAAGGAATATTGTATGTGTCCCCAAGAACTACGGAGTGAAAGGCAGTGCACACAGAGGGGACAGAGGGAGAGACAAAGGAGGGAGAAAGATGCAAAGTGCAAAAAACAGGTTAGAAACGGCATGTCAACCCGAATTAAGCAGACCTCTCCCCACGACAGCCAAAACACAGATAGCAAGACACAGCAGGCGGGACCCTCTGAGGACCAGGGAACACCCTGGAAAGTAGAGAGCTGAGAACTGCAGGCTGGAGGCTGCCCACAGGCTCCTTGCCCCCAAAATGGGACGGGAGGAGAGGGCCCAGGGACCTCAGTGCTTGGAATGACCCAGAAAGGTGCTCTTGCTTACAGGCCAACCCCCTGAGCTCCAGTCCCAGGGCAGGGCCAGCAGGAAGACGCCCAGCGGGCCCTGAGACACTTGCTACCCTCTGAAGGCCAGCTGAGCGAGCCTGATTAGGAGAGCAGGCAGACACGAGAGAAGGATTTGGGAGGGGGGCAGGGGCAGAAAGGACACCTTCCAACCAACCAGCACCGCTCCCAGAGTGAGGACACTGCTTCCAGGGCGAGGACGGTCAAAGGGGCTGAGGGAGGGGCCAGAGGTCCAGTGTCTGGTCTTGAAAGGTGCAGGCAAACCTTGCTCTCCTGATGCTCAGCCCCAGGGACCCTCTGCTGAGCACACCTCAACCCCTCCACAGACTGGAGATACCTCCTCACTGCTACCTGCCCTCTAACCCCATGTCTCCAGGCAAGGAGGCGAGTGGGGCAGGGGGCCCAACTGGGAGGTACCAGTACCTTGGGAGGCCAGCATGGCGCCTGCCGTCTCCTGGAAGTCCAAAAGCTGCTGCAGGAAGAGGATGGCCTGGGTGGGAAGAAAACGGTGCAGAAGGGCAAGTGGCAGGCCCGGCCGACGGC
CATGTCGCCCACCTGCTCCACCCCGTACTTGATGTACTTCTCCGGGTTCTTGGTGAAGGGCACGCTGCCAAACCTGAGGAGGCACTGTGGTCAGGGGACAGGGAGGGCCGACCCCTCCCCAGCTCCACCCTCAGCCTAAGGCACTCCTGATAGTCTTGGAAGGGGTGGCCCTGAGCGATTCCCTGTCTGGCCCCGCCCCAAAGCCCAGGTCGCTGGATCTGCTGCCTAAATCCACCACCCTTCTCCTTTTTCCCTTGAGGAAGAGGAGCTTGAAGAGGCCCACTGGGGCTGTGGGCAGCACAGGCTGGGAGGGGAATGGAGGCCTCACTTCTGTAGAAAGGCCCCGTAGGTCTCCTTGACAATGGTCTTCTGGGCCTGGCGAATCCTGTCCCTCTGCTCTGTGTCTGGAATAGCCCAGGCCTTCTGGATTTTGCACAGTTCTTCGAGGCCATCATTGAAGCCCTGGCCACCAAAAAGGTGAAAAAGGAAGGCACCCAGAGACAAACATTTTGGGTCTGTGTTGCCTCAACAGCAGCAGCAAGCAGTGGAGGGGAGAGGACCCCGACTCACCTTAAAACGCTCCTTGATAATCTGCCGCTCCTTGTCCCGGAGCTGGGAAGCCAGGAGAGATAGCAGAGAAAGCTCACTTCAGAGCAGAGCAGCCTTCCCCCACTCTTCCCCAAACACCCTTGGTCTGGGCCTGTCTCCTGTGTCCTGATGGCCACATGCATCCTTTGCTCTCTGATCCCAGAGGGATGCTTGTCCACTTTTTCCCAGAGACACGACAAAAAGTATCCCGTCTGCCAGACACCCCTTCCCAGCCCAGGTCTTGAGCCCACCTTGACTCCCGGCTGGAACACAGGTAGATTCTTCTCTGCGATGTAATCAGTCACCTTTAACCAGCTGCCAGACAGAAAGAGAAGCATGAGGGCAGAGGGTGGCCTGCCTCAGTGGCCTGGCTTGTTTCGTTTGCTAAATCTCTGGATCTACTTGGTGGGTGGTGGTAGGAAGGGATGTGGGTCACAACTAAGCAAACAACAGGTTTTCTTCCTGGGAAGAGAAAATCTTTAAACTGGTCACTTTTTGAGATAACATTAGGAAACACTTGAGTGTTCAATAAATTGGACAAATACTGTCAACTATACTTCACATCAATATCGTGGCAAACTAAGATGGAGAAACAGATGAGAAAGAAAGGAGTGGAGGGCAGATAAATGAGAAGGAAGAGGTAGACACATTCAAAGGGAAGAAACAAAGCCAGGAAGAAAGAGGACCAGAGAAGCAGCGGGATCCTCACAGAGCAAGGCTCAGCCACGTTCAAGTGCTCTCGCGACCTTGCTCTTCTCCTAGGTAAACATTACCCACGTCTCTGAGAGCCAGCTCTTCAATCATTCTTAGCCTTGACACTTGGCAGACTCCCCTCTAAAGTGGCCATAGTGGGCCCCTAGGAGCAGGTAGTGGTAGAGGAGGGGGCTTCTCTCTCCACCCCGTGAGTTTGATTAGAAACCAAGTGGAGGATTAGGGTCCAGAGGACAGGAGTTCCCCGTGACCGACTCTGTGTCCTGAGGTGCTGAGAAGGAAGAGTGCGTGGTGGCACAGGGGCCCATGCAGGAGCAGGGCGGGCCCAGCCTCTCACCTGCGCTGGTAGGTCTGGATCTGCTGCTCAATGTGCTCCCGGTAGGAGCGCTCAGCAGTCTTCTGTGTCACTGCCACCAGCTGGATCAGTTCAGACCTGGGTCGGGGTAGGGGACAGAGGAGAGGAGGACAGGATTGGCTCCTCAGGCCCAAAGGCTGCGGCAATGCCGGGAGGGCCTCCCATTGCACCCCAAACTCCACAAGCTCTATGGCATCCCACCTTCCGGGTCCTGGGGTGGAGGAGACTGAAGCACCCCCTCCCCTCTCGTCCACAAGAGAAGGAGCCCAGGGGGGCAGGGGCTGGCACAGCTGCACAGCCGAGGGGAAGGTGAGAGCCGCAGACTCACTCCCGCAGGCCACTTACTTCTCCAGGGACTTGAGGATGTAATTGTAGTTGTTGTGCAGGAAGATGGTGCTCAGAGCTGGGTCCTCGTACACCTTGGACTTGCTCAGCAAGTTCAACTGCAGGTTGCCCAGCACTTTACCTGCACAGGGAAAAATGGGGCCACACCCACCATGGCAGTCTGACCCAAACGACCCCACCCCAGGACCCGCGAACGCGCTCCTATCCATCGCTCCTCGTCCTGCCTCAGGAGGCCTTAGCCCAACTCCCCTCAGCCTCTGAACTAGAGGTCAGGTTGTGGTTCCAAAGATCAGATGGCACTTAGGAGAGGGCCCTGGGAATAGCCAGAGAGCACAGACAGAAGGAAGGGAAAGGCAGGGCATGCAGGCAGCAGGGCTGCTGGTCTGCCCGGGAGAACACTCACAGATATAGGTGCTTAGCAGCCGCTTGCTGAACTCAGAGCTGTAGCTGGTGGCCGAAGAGCTGGTCTCTGTGAGAGGAGAAGTCCTGTTATTGCAGTGGCAGCAGCCAAGACCCTCAACGGCCCTTCCCCCAGGCCATGCAGCAGTCTGAGGGGACACTGAGACAGGCCCTGGGCTTCCTTGGGCAGAGCTGGCTGCCTGCTAAGCCACAGGGTGGCCCCTGCCGCAGGAAGCACCAGCCCTGGAGTTTTTGGAACCCAGAGCTGCCCTCTATGATGGGATGGAGCTGGCCCATGTCAGCAGAAAAGCTGGCAGGAAAAGAGTGAGATGCCAGCGCCCTGTCCCCTCCTGCCCCCACCCACCCTGGGTGGTTTCTACAAGGCCCCCTTTTTCCTTTTGTCAACAGCAGAGTCTTAGAATGGGCTCCCCACAGCCTCTCCACCTTCTCCCCTACATTCGAACATCCCCTCTACCAGACCCTACTGAACAGACGAAGCTGCGGCCTGCACAGTGGGGAAGGCCGAGTGGGGACAGCAAGGCAGGGAGGCCGGGCGAGCCTAGGGGGTGTATCCAGGGCTCTAGCCTGGGCAGGTGCTGCGGATAAGCTCAGAGACAGAGTGGCCTTGAAGGGAGCAGAGAGAGTTGAGAGCACCCCGAGAAAACTCATGTCCCCTCTGACTCAGGCTCCCCAGTAGGTACTGAGAGTCAGTCCCCAGGGAACCTCACCCACCAAGCTTCAGAGGGACAGGAGGGGGCTGCAGAACCGCACTGCTTACCTCGGGGGTCTAAAGGAATATTGTATGTGTCCCCAAGAACTACGGAGTGAAAGGCAGTGCACACAGAGGGGACAGAGGGAGAGACAAAGGAGGGAGAAAGATGCAAAGTGCAAAAAACAGGTTAGAAACGGCATGTCAACCCGAATTAAGCAGACCTCTCCCCACGACAGCCAAAACACAGATAGCAAGACACAGCAGGCGGGACCCTCTGAGGACCAGGGAACACCCTGGAAAGTAGAGAGCTGAGAACTGCAGGCTGGAGGCTGCCCACAGGCTCCTTGCCCCCAAAATGGGACGGGAGGAGAGGGCCCAGGGACCTCAGTGCTTGGAATGACCCAGAAAGGTGCTCTTGCTTACAGGCCAACCCCCTGAGCTCCAGTCCCAGGGCAGGGCCAGCAGGAAGACGCCCAGCGGGCCCTGAGACACTTGCTACCCTCTGAAGGCCAGCTGAGCGAGCCTGATTAGGAGAGCAGGCAGACACGAGAGAAGGATTTGGGAGGGGGGCAGGGGCAGAAAGGACACCTTCCAACCAACCAGCACCGCTCCCAGAGTGAGGACACTGCTTCCAGGGCGAGGACGGTCAAAGGGGCTGAGGGAGGGGCCAGAGGTCCAGTGTCTGGTCTTGAAAGGTGCAGGCAAACCTTGCTCTCCTGATGCTCAGCCCCAGGGACCCTCTGCTGAGCACACCTCAACCCCTCCACAGACTGGAGATACCTCCTCACTGCTACCTGCCCTCTAACCCCATGTCTCCAGGCAAGGAGGCGAGTGGGGCAGGGGGCCCAACTGGGAGGTACCAGTACCTTGGGAGGCCAGCATGGCGCCTGCCGTCTCCTGGAAGTCCAAAAGCTGCTGCAGGAAGAGGATGGCCTGGGTGGGAAGAAAACGGTGCAGAAGGGCAAGTGGCAGGCCCGGCCGACGGC
Task1_train_25568
This mutation is located in gene RHBDF2 (rhomboid 5 homolog 2) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; not provided
TCACCTTGGAGGCGATGCGCTTGCCGCGCCGGGGCCCGGGGACTGGGGCTCGGCCATACTCCTTCCTGGTGGGGATGGTGGCTTTCAGCCTGAATCCCCCACCAAAATACTCCCAGACCCCACCAGGGTGCTCAGAAGGGGCTTGGGGGCCAGGGTGAGGTCTGGGGATGCCCCCAGGCTGGTGGCTGGCCTGGAGGAGGGACTCTGCCCCAGCACTCACAGAGGGATTTGCACCCCATCGGGGGAGACAGGGGAGGCTGAGTGTGGGATCCCTCGGAAGTAGCTGGCAGAGAGTGGGGGGGACTCAAAGACATCATCAGGCATGGAGCTCATTTCTTCCTGGGGTGGGGGACAAGAAAATACAGTGTAAGGAGTCTGTCCCAAACACTGCCCCCCGGAACCTCAATTCAAGGGCAGGACACAGCTGAACAGACGGGCTCTTCACAATGAATTGGGAAGCCACATGCCCGTCAGCCCCAATGGTGACTTTCCCGGGTGGCACTGTGCCCCACCGCAGGTCTTCACCCTACCCAACAGAAAGATGGGGGCCCAGCAGCTCCACATAGGACCATGCCACATCCCAGCAGTGGGCCTCTGGGTCCCTCAGGGGTTCCTGAATATGATCAATGCCAAGGTCACCTCACCCAGCTCCCAGGCCACCCCACCCAACTCCTGCTGTCCCACACCCCATGCTTGCCTTACTAAAAAAGGAGGAGTCAAACGTGTCTGCCCCATCGACCACATCCTCCTCCAGGAAGCTCGGGAAGGCAAAGCTGCGCTTGACCACCCGGCACCGCTGTCCGGTGGCATCCAGCACCGAGCGCCCCTGTGCACGGGCAGAGGCACAGCCATCAGGACCACAGCCTGGCCACCTAGGCCCCCAGCCCCAACACCGAAGGAATCATCAAGCCCATCCGCCTGCAGGCAGCGCCTTGGGAGGAGGGATCCTGCCCAAAGCGTGGAGATTCTGCAAGCTGAACGGGCAAGAGGAGCTCCTGAGACTGGAAGGCCAGGAAATGAGACACCAGCTTCCGTTGGCACACCACTCTTGGCACAGTTTGGAGTCACCTTTCCCTTGGTCCCTGCTGCCCCTCTGCCTTGGGCTGCTGGTACCCTAACACTCAAAGCAACCCACATTCTATACCCTCACTCCCGAGGCTTGGGCCATGTCTCCCTGTCCCTGTTTCTTGGCACGGAATACCAGGTCCCTGCCCACCTTTCTGACCCCATCTCCTGCCACAGCTCCTATAACCACCCTTCACTAAAACCACATCAAACCGCCTGCTGCCCCCTCAAAGCACTGTACTTCCTCTGGGCTCCTGGCCCTTGCATAGGCCATTCCCTCTGCTGAGAATGCTGTTCCCTTCCTTCCCTAGTGAACGTCTCCTTGTGTCTTCTGGGCTTAACTCAATGTCTTCCCTGATAACAGCCGCTCTCCTAAACTGACCACCCTGAATGGTGACCCTCACCCTGGGCTGCGAGCTCAGCCAGGATGGCGATGGCTCTGCACGCGGTGCCCAGCACGTAACAGGGACTTGGAAAACCCGGGTGGATGAGGAGCAAGTATGCATCTCACTTCCCACTTCCCCAGCTTAAGAGTCAGTGCAGAGACCAGGTTCCAAAACTTGGCAGGGGGTCACACGAGATTTAAGACAGAAGGATGGACGCCTGGGTGCTGGGCTTCGGGGTCCCTCTTTGCCCAGGGATCCCAGCACATCCACTGTCCTTGGCACCGTAGGCAGATGCCCAGGTGAGCTTTAGGGGATGCTACTATGAGGAGTGGAAGGGAGGGGCAAGGAAGGGAGGCCGGGCAGAGGTGGGGGCCCTGCAGGAGGGAGCCCCGCACCTTGAGGAGGGCAGCGGCAGCTTGCAAGCTCATGTGGGCCACAGACATTCTCTTGCGGCGTGGCAGGTGGGAGTAGCCAGAACGGACACTGGTGAAGGAGGTGAGGGACAGGACTCCGGGGGTCAGCGGTGGGTGCGGGGCGTGGGGCCTGTCCATCTCCTCCGGGTGGCGGAAGGCCCGGCCCCGGGCCAGCGGATCCACAATCTGGAAGGGAGGGGGGCGGTAAGCAGAGCCATTAGGGTCCCCACCCCTGCCTCCTTTCCCCATGGATCCCACCTTGGGCATCTTGCAGGGCTTTGGGGACTCAGTGCCCTGGAAGGACGGTGCCTCCTGGCTGGGGAGCTCCAGGTCACGCTGGCACGAGGCCTTCAGGCGGCCGTAGCGCATGCTGCAGTGGTGCAGGCTGCGGCGCTGCCACTGCTGCCGCTGCCCCTCCCAGTCGCCGCTGACTCCAAACCACTGGGCTGCGCCCCTGCGGAAGCAGACAAGGGACAGGTGGGCATACGCTTGTCTACGCCTGTGCACCTGAGTGTGTGGAAGGGGTGATGGCACGTGTGTGCCCGCGTGCCTACAGGGAGGTGGGGGGCGGATCTGCCTGTGAGGCCCCTGGCTGGAGCCCAGTGACCAGATGAGCAGAAGCAGGGGATGACGGGAGCGTGAGGAGCCAGGCTAGGGCCCCAGGCACCCCCACACTGATCCACCCAGCTCCTCGAAGCCCCCCAGCCTCCACACCGTGATATTCCGCAAAGCACATACCCATTTCCCCATCTATACCATGATAATAGGCCACAGGGAGACATTGCTCATTAATGCCGGCCTCCTCCTTCCAGAGAGGGGACGCAGGGACCAGGCCCAATCATGTCCAGGCCCCGAGAATCCACAGGTTGCTGGGTGGGGGGTGCTGGGCTTGGGTGTAGGGGGGCTCACTTGCGGATGCTCTGGGACAGTGAGGCCTGGCGGCGGAAGCCAGGGCGCTTCTCTGAACTCTCCTGCCATCGGCTGCGTGGCTCCTGGAGGCTGACGCTCTTCAAGTAGGCTGGGTTCTTCCTCTTGGGGAGGAAGGAGGGAGGGCAGGCGGTGGTGTGTGCAGCCCAGGTCCTGGGCTGGCTTTTCTTTAGCCTCCTATTCTGAAAACCCTGAGAACAAACTTCAACCCTGATTTATGCCCCAATTTGCTTTCATTTGGAAATATATATATATAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTATATGTATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAATCTCACTGTATTGTCCAGGCTGGAGTGCAGTGGTGTGGTCTCGACTCACTGACACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGCCTGACCTCAAGTGATCTGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCATGCCCGGCCTATATATATATTTTTTGGGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGGGCAGTGGCACCATCATAGCTCACTGGAGCCTCGACCTCCCAGGCTCAAGCAAGCCTTCTACCTCAGTGTCCTAAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTCTTTTTTAATTTTTTTTGCAGAGACAGAGTCTTGCTATGTTGTCTAGTCTGGTCTCGAACTCCTGGGCTCAAGTGATCTGGCTGCCTCAGCCTCCCAAAGTGATGAGATTACAGGCATGAGGCGACCTCGCCCAGCCTCATTCTGAATTTAAAATCGCCATTGTCTAACTTTTCTCCGTCAAGGCCAGCGTGTGTTTTCCTAACTCCTCATCCAGTCCCTCCCCTCTGCACCATGACGCTCCTGCCTGCTGCTGTGTCTTCTGCAGAGCTCTCGGGTGAACGGGGGGCGTTAACATCGCTTCCCTTTATACTCCAGACTGTGCAGGAAGCCCACGCTGCCACAAGCCGGTTTTCAATGAGCTCTTTATGGGGCACTAGACCAGACTGTCAGAAACACTGATCTGTTCTCGTCCTCCCAAAGGAAGCGGACACTGCCTAGGCGGGCTGCTGATGCCAGGGAGACACTGTCCCCTGCTCACCCATGTCAAAGAAAGCCCCCAGCCCTC
TCACCTTGGAGGCGATGCGCTTGCCGCGCCGGGGCCCGGGGACTGGGGCTCGGCCATACTCCTTCCTGGTGGGGATGGTGGCTTTCAGCCTGAATCCCCCACCAAAATACTCCCAGACCCCACCAGGGTGCTCAGAAGGGGCTTGGGGGCCAGGGTGAGGTCTGGGGATGCCCCCAGGCTGGTGGCTGGCCTGGAGGAGGGACTCTGCCCCAGCACTCACAGAGGGATTTGCACCCCATCGGGGGAGACAGGGGAGGCTGAGTGTGGGATCCCTCGGAAGTAGCTGGCAGAGAGTGGGGGGGACTCAAAGACATCATCAGGCATGGAGCTCATTTCTTCCTGGGGTGGGGGACAAGAAAATACAGTGTAAGGAGTCTGTCCCAAACACTGCCCCCCGGAACCTCAATTCAAGGGCAGGACACAGCTGAACAGACGGGCTCTTCACAATGAATTGGGAAGCCACATGCCCGTCAGCCCCAATGGTGACTTTCCCGGGTGGCACTGTGCCCCACCGCAGGTCTTCACCCTACCCAACAGAAAGATGGGGGCCCAGCAGCTCCACATAGGACCATGCCACATCCCAGCAGTGGGCCTCTGGGTCCCTCAGGGGTTCCTGAATATGATCAATGCCAAGGTCACCTCACCCAGCTCCCAGGCCACCCCACCCAACTCCTGCTGTCCCACACCCCATGCTTGCCTTACTAAAAAAGGAGGAGTCAAACGTGTCTGCCCCATCGACCACATCCTCCTCCAGGAAGCTCGGGAAGGCAAAGCTGCGCTTGACCACCCGGCACCGCTGTCCGGTGGCATCCAGCACCGAGCGCCCCTGTGCACGGGCAGAGGCACAGCCATCAGGACCACAGCCTGGCCACCTAGGCCCCCAGCCCCAACACCGAAGGAATCATCAAGCCCATCCGCCTGCAGGCAGCGCCTTGGGAGGAGGGATCCTGCCCAAAGCGTGGAGATTCTGCAAGCTGAACGGGCAAGAGGAGCTCCTGAGACTGGAAGGCCAGGAAATGAGACACCAGCTTCCGTTGGCACACCACTCTTGGCACAGTTTGGAGTCACCTTTCCCTTGGTCCCTGCTGCCCCTCTGCCTTGGGCTGCTGGTACCCTAACACTCAAAGCAACCCACATTCTATACCCTCACTCCCGAGGCTTGGGCCATGTCTCCCTGTCCCTGTTTCTTGGCACGGAATACCAGGTCCCTGCCCACCTTTCTGACCCCATCTCCTGCCACAGCTCCTATAACCACCCTTCACTAAAACCACATCAAACCGCCTGCTGCCCCCTCAAAGCACTGTACTTCCTCTGGGCTCCTGGCCCTTGCATAGGCCATTCCCTCTGCTGAGAATGCTGTTCCCTTCCTTCCCTAGTGAACGTCTCCTTGTGTCTTCTGGGCTTAACTCAATGTCTTCCCTGATAACAGCCGCTCTCCTAAACTGACCACCCTGAATGGTGACCCTCACCCTGGGCTGCGAGCTCAGCCAGGATGGCGATGGCTCTGCACGCGGTGCCCAGCACGTAACAGGGACTTGGAAAACCCGGGTGGATGAGGAGCAAGTATGCATCTCACTTCCCACTTCCCCAGCTTAAGAGTCAGTGCAGAGACCAGGTTCCAAAACTTGGCAGGGGGTCACACGAGATTTAAGACAGAAGGATGGACGCCTGGGTGCTGGGCTTCGGGGTCCCTCTTTGCCCAGGGATCCCAGCACATCCACTGTCCTTGGCACCGTAGGCAGATGCCCAGGTGAGCTTTAGGGGATGCTACTATGAGGAGTGGAAGGGAGGGGCAAGGAAGGGAGGCCGGGCAGAGGTGGGGGCCCTGCAGGAGGGAGCCCCGCACCTTGAGGAGGGCAGCGGCAGCTTGCAAGCTCATGTGGGCCACAGACATTCTCTTGCGGCGTGGCAGGTGGGAGTAGCCAGAACGGACACTGGTGAAGGAGGTGAGGGACAGGACTCCGGGGGTCAGCGGTGGGTGCGGGGCGTGGGGCCTGTCCATCTCCTCCGGGTGGCGGAAGGCCCGGCCCCGGGCCAGCGGATCCACAGTCTGGAAGGGAGGGGGGCGGTAAGCAGAGCCATTAGGGTCCCCACCCCTGCCTCCTTTCCCCATGGATCCCACCTTGGGCATCTTGCAGGGCTTTGGGGACTCAGTGCCCTGGAAGGACGGTGCCTCCTGGCTGGGGAGCTCCAGGTCACGCTGGCACGAGGCCTTCAGGCGGCCGTAGCGCATGCTGCAGTGGTGCAGGCTGCGGCGCTGCCACTGCTGCCGCTGCCCCTCCCAGTCGCCGCTGACTCCAAACCACTGGGCTGCGCCCCTGCGGAAGCAGACAAGGGACAGGTGGGCATACGCTTGTCTACGCCTGTGCACCTGAGTGTGTGGAAGGGGTGATGGCACGTGTGTGCCCGCGTGCCTACAGGGAGGTGGGGGGCGGATCTGCCTGTGAGGCCCCTGGCTGGAGCCCAGTGACCAGATGAGCAGAAGCAGGGGATGACGGGAGCGTGAGGAGCCAGGCTAGGGCCCCAGGCACCCCCACACTGATCCACCCAGCTCCTCGAAGCCCCCCAGCCTCCACACCGTGATATTCCGCAAAGCACATACCCATTTCCCCATCTATACCATGATAATAGGCCACAGGGAGACATTGCTCATTAATGCCGGCCTCCTCCTTCCAGAGAGGGGACGCAGGGACCAGGCCCAATCATGTCCAGGCCCCGAGAATCCACAGGTTGCTGGGTGGGGGGTGCTGGGCTTGGGTGTAGGGGGGCTCACTTGCGGATGCTCTGGGACAGTGAGGCCTGGCGGCGGAAGCCAGGGCGCTTCTCTGAACTCTCCTGCCATCGGCTGCGTGGCTCCTGGAGGCTGACGCTCTTCAAGTAGGCTGGGTTCTTCCTCTTGGGGAGGAAGGAGGGAGGGCAGGCGGTGGTGTGTGCAGCCCAGGTCCTGGGCTGGCTTTTCTTTAGCCTCCTATTCTGAAAACCCTGAGAACAAACTTCAACCCTGATTTATGCCCCAATTTGCTTTCATTTGGAAATATATATATATAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTATATGTATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGATGGAATCTCACTGTATTGTCCAGGCTGGAGTGCAGTGGTGTGGTCTCGACTCACTGACACCTCCGCCTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGCCTGACCTCAAGTGATCTGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCATGCCCGGCCTATATATATATTTTTTGGGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGGGCAGTGGCACCATCATAGCTCACTGGAGCCTCGACCTCCCAGGCTCAAGCAAGCCTTCTACCTCAGTGTCCTAAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTCTTTTTTAATTTTTTTTGCAGAGACAGAGTCTTGCTATGTTGTCTAGTCTGGTCTCGAACTCCTGGGCTCAAGTGATCTGGCTGCCTCAGCCTCCCAAAGTGATGAGATTACAGGCATGAGGCGACCTCGCCCAGCCTCATTCTGAATTTAAAATCGCCATTGTCTAACTTTTCTCCGTCAAGGCCAGCGTGTGTTTTCCTAACTCCTCATCCAGTCCCTCCCCTCTGCACCATGACGCTCCTGCCTGCTGCTGTGTCTTCTGCAGAGCTCTCGGGTGAACGGGGGGCGTTAACATCGCTTCCCTTTATACTCCAGACTGTGCAGGAAGCCCACGCTGCCACAAGCCGGTTTTCAATGAGCTCTTTATGGGGCACTAGACCAGACTGTCAGAAACACTGATCTGTTCTCGTCCTCCCAAAGGAAGCGGACACTGCCTAGGCGGGCTGCTGATGCCAGGGAGACACTGTCCCCTGCTCACCCATGTCAAAGAAAGCCCCCAGCCCTC
Task1_train_25569
A sequence alteration has been identified in CYGB, PRCD (cytoglobin| photoreceptor disc component) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Retinitis pigmentosa 36
GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGG
GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCACGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGG
Task1_train_25570
A variant was discovered in gene CYGB, PRCD (cytoglobin| photoreceptor disc component), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Retinal dystrophy
GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGG
GCGTGCGGACCCTTCCCGCGGCGGGGAACTGACTCAAAGTCCAACACTCCCGAGCTTTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCACGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGG
Task1_train_25571
With a mutation on Chromosome 17 in gene CYGB, PRCD (cytoglobin| photoreceptor disc component), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Retinitis pigmentosa
ACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGGCCTGGACCTCCTGGCAGGAGAGAAAAGGCCAAATCTGAGGACCATCTGGCCAGGCCTGGCCTGGCGTGACT
ACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAAACGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGGCCTGGACCTCCTGGCAGGAGAGAAAAGGCCAAATCTGAGGACCATCTGGCCAGGCCTGGCCTGGCGTGACT
Task1_train_25572
The variant affects gene MFSD11, SRSF2 (major facilitator superfamily domain containing 11| serine and arginine rich splicing factor 2), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Atypical chronic myeloid leukemia, BCR-ABL1 negative
GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACACTATCCTTTCCCCACCCAGTGCAATACCTGTAACTTTCTTTTGGGGTTCCAAATGTTCACTGCTTCTTATTGCAATTCTTTTGCCACATCCATTAGAATATGAAGTCCCAGTCAGTACAACAATAGTTGAACTGATTGTTTCTCTAAGAGGATAGTGCATCTTTAACATTTAAAGACAAACCTGCTCCAATACACGCCCACAGAAACTGGTCCCTGGAGGATCAGCCAAATCAGTTAAAATCTGCAATACTGGCCAATATTCTTTTATCAAACAGGAGACCGCAGCTTTAAAGGGGGAAAATGCAGACGTTGGATAAAAACAGCAAGAAATAGTCATTTTCATTAATAGGTCTCAAACAGTTTACGAAACAGCCATTATTATCTAAGCTTCATACACATCCTTTCTGCAGACCCCTCTCTTCAGTATTACTCCCAAAGGTGAGTAACCTCCGAGCAGCACTCCTAATGATAGGAGTCATTCTTACATTAACACGACTCAAAAAGACCTACCCCAAATCCCATTTATGAATTAGGGTTATGTGTCTCGGATTCCCAGACATTACCATTTTCTTAAGAGGACACCGCTCCTTCCTCTTCAGGAGACTTGGGGGGACTCTTCGATCGCGACCTGGATTTGGATTCCCTCTTGGACACTGGGGGAGGACTCCTGGACCGAGACCGGGACCTGGACCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACTTGGACCTTCGTGCGGATCTGGACTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACTTCGAGCGGCTGTAGCGAGATCGGCTGCGAGACCTGGAACGACTCCGACTCCGGGATCGGCTGCGGCGACGCCGCCTAGGGCTGCGGGCGGGACGAGCAAGCACAGCGGGGTTAATTCCAGGCAGCGGGGCCGGCCCCGCCCGCGCGCTCCCGCCCAGGCCGCCATTATCTCGCCGCCAGACGCCATTTCCCCAGTCGCGAGGCGGGGTCCTCCGCCCCGCGCCGCCCACACCCCGGCCACTCCCGGGTCGCAGACGGCGGAAGCTCGCGGGGTGGCCGGAGGGTCGCGAGACGCGGCGTGCACCCCCGCCCCGTCCGGGCCCGCACCACGTGCTTCGCCGCGGACCTTTGTGAGGTCGCCCGGGCCTCCCGCGCGCCCCGCCCCGCCTCCCGCGGTCCCCTCAGCCCCGTTTACCTGCGGCTCCGGCGTCCGTAGCCACCGCCCCCGTACCTGCGGGGTGGCGGTCCCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATTTGCACCCGCAGCTCGCGGCCGTCCAGCACGGCCCCGTCCATGGCATCCATAGCGTCCTCAGCGTCGCGCTTGTCGTGAAAGCGAACGAAGGCGAAGCCGCGGGACTCCTTGGTGTAGCGGTCCCGCGGGATGTACACGTCGCCGACGCGCCCGTACTTCTCGAAGACGCGCCTCAGCGTGTCGGGCGAGGTGCGGTAGGTCAGGTTGTCCACCTTGAGGGAGGTCATACCCTCCACATCGGGAGGGGGGCGGCCGTAGCTCATAGCTCTGAGTGGCGGCCCGGAGCCCCGCGAACTGGCGCCGGCTTCCTCAGCTCTGGGCGGTGCGACGCCGCGCCTCTCAGGCAGTTGCCTTCCGCGTGGGGACACTGGGAAAGGCCTTGCCGCAGAACAGCACGGACGGGCTCCGCAGGCTAGCGCACCTGAGTAACAACTGGGCGGGCAGCCGGCCTCTGCGCCCGTTTATATCGCTCCTCACAAAATGGCGCCCGCGCCACCCGGAAATGAAACCTTCTGATTGGCCCACCGCGCCCCGCTTCGTAACGACCCTGCCGCGCGCCCCGCCCCTACCCGAAGCGCCTGCGCACAGCCCGGCGGGCGGGCCAAAAAGCGCGGAGTCACGGCTGGAGGGAGGGGGAGCGGAATTAGCGGGCAGTTGGAAAGCCCGCGAAACGCTTTTTCCGCCTGGGAGGCCGGACGATCGCGATTGGGCAGGAGGAAGAGGAGGTGCTCCCCATCTGGGCCCCCACCTTTTTTTCATGCCAATACTCCAAGTTCACGCCCCTTTTTTGCTCAGCCGTCAGCCCCGTCTCCGTCTGAAGAGTGCTTCTGCCCTCATTTGCCTCTCCCTGTGACCCCGGCCCCCTCAGACTCCGCTGCGTCGTCTCTCGGCCCCGTCCAGCCGTTCCTGACTGCTCTTCGCCGGAGTCCGCTTCCCAACCCCCTTTCGCCAGAGCCCGAGAGCTCCGTCGGCTCTGCGTCCTGGCGGTGGGGACTCCCCGCGGAGCGCTTGCGCGTGCCAGGCCACCCGGGACTACGTTTCCCAGCGGGCCGAGCGGCCGGCGCCGCGGCTGCGGTCAGGTGACCCGGTCGCCTGGCCGCAGTGAGTCAGGCTGGGAGGGCGGGGCCGCGCCGGCTGCTGCGGCTGGCACTTGGCCCTTTAATCCCCTTCGTGGGCCCCTCAACCTGGAGCGGATAAATTCTTGGCGCTTCTCCGGGGGTTGTGCTCTTCCGTACTCGGATCGCTTCTTAGGAGTATCCTAACTGCCGGTGGGGAGAACTTCGCCCTAAACCTGGGGTTCCGATCCAGGAACTGGAAGTTGACAGCTTGGCTGCCTGGCTCCTGCATCTGCCTTCTCCACTCACCATCTCATTTCTTTCTCCAGGATTGTCAGTGGCTTCGCCCCGAGGAGAGCTGACTGCCCTGGGCTGCTGCCTCCGGCAGAGCTGAGCCAAAATGTCCCCGGAATCTAAAAAGCTTTTCAACATCATTATTTTAGGAGTTGCCTTTATGTTTATGTTCACTGCCTTTCAAACTTGTGGAAATGTGGCGGTGAGTTGGAATCTGTCCTCCCTCCTTTGAAGTGCCCATCATAATGCAGTCCAGAAATGAAAATAAACGTTCATTATATCTAATAGCGCGCTTTAATTGCATCTTTCATTTTTCCCACCCAGACTTCCTCATTTTTTATGATTAGGTTTGATTTCTTGTGTCAGACATTTCTCATGGGGGCGTTAAGCATTATCGTTTAATCTGATTTGATTAGGGGTTTGGATGTTAACCTGGTTATTTTGTTTCTCGTCTGTATTAAGCGCTTCCTTAGTACTTGGATGGTTACAGCTGCTTTTCCTCCCCCCTCCCTGTCATTGGTTTGCCTTCTGCAGTTCTGTTGTCCTTTTTCTTTTCTCATAATGGACTTCAGTATTAAGTACATTATGAACTTTTACTTTATTCTCTTGCTGAGTACTTGGAGTCACACTTCCCAAGGGTGGGAGGGAGACTGCAAAACATTTTCGTTGATTAGTTTT
GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACACTATCCTTTCCCCACCCAGTGCAATACCTGTAACTTTCTTTTGGGGTTCCAAATGTTCACTGCTTCTTATTGCAATTCTTTTGCCACATCCATTAGAATATGAAGTCCCAGTCAGTACAACAATAGTTGAACTGATTGTTTCTCTAAGAGGATAGTGCATCTTTAACATTTAAAGACAAACCTGCTCCAATACACGCCCACAGAAACTGGTCCCTGGAGGATCAGCCAAATCAGTTAAAATCTGCAATACTGGCCAATATTCTTTTATCAAACAGGAGACCGCAGCTTTAAAGGGGGAAAATGCAGACGTTGGATAAAAACAGCAAGAAATAGTCATTTTCATTAATAGGTCTCAAACAGTTTACGAAACAGCCATTATTATCTAAGCTTCATACACATCCTTTCTGCAGACCCCTCTCTTCAGTATTACTCCCAAAGGTGAGTAACCTCCGAGCAGCACTCCTAATGATAGGAGTCATTCTTACATTAACACGACTCAAAAAGACCTACCCCAAATCCCATTTATGAATTAGGGTTATGTGTCTCGGATTCCCAGACATTACCATTTTCTTAAGAGGACACCGCTCCTTCCTCTTCAGGAGACTTGGGGGGACTCTTCGATCGCGACCTGGATTTGGATTCCCTCTTGGACACTGGGGGAGGACTCCTGGACCGAGACCGGGACCTGGACCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACTTGGACCTTCGTGCGGATCTGGACTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACTTCGAGCGGCTGTAGCGAGATCGGCTGCGAGACCTGGAACGACTCCGACTCCGGGATCGGCTGCGGCGACGCCGCCTAGGGCTGCGGGCGGGACGAGCAAGCACAGCGGGGTTAATTCCAGGCAGCGGGGCCGGCCCCGCCCGCGCGCTCCCGCCCAGGCCGCCATTATCTCGCCGCCAGACGCCATTTCCCCAGTCGCGAGGCGGGGTCCTCCGCCCCGCGCCGCCCACACCCCGGCCACTCCCGGGTCGCAGACGGCGGAAGCTCGCGGGGTGGCCGGAGGGTCGCGAGACGCGGCGTGCACCCCCGCCCCGTCCGGGCCCGCACCACGTGCTTCGCCGCGGACCTTTGTGAGGTCGCCCGGGCCTCCCGCGCGCCCCGCCCCGCCTCCCGCGGTCCCCTCAGCCCCGTTTACCTGCGGCTCCGGCGTCCGTAGCCACCGCCCCCGTACCTGCGGGGTGGCGGTCCCCGGCGGCTGTGGTGTGAGTCCGGGAGGCGGCCGTAGCGCGCCATTTGCACCCGCAGCTCGCGGCCGTCCAGCACGGCCCCGTCCATGGCATCCATAGCGTCCTCAGCGTCGCGCTTGTCGTGAAAGCGAACGAAGGCGAAGCCGCGGGACTCCTTGGTGTAGCGGTCCCGCGGGATGTACACGTCGCCGACGCGCCCGTACTTCTCGAAGACGCGCCTCAGCGTGTCGGGCGAGGTGCGGTAGGTCAGGTTGTCCACCTTGAGGGAGGTCATACCCTCCACATCGGGAGGGGGGCGGCCGTAGCTCATAGCTCTGAGTGGCGGCCCGGAGCCCCGCGAACTGGCGCCGGCTTCCTCAGCTCTGGGCGGTGCGACGCCGCGCCTCTCAGGCAGTTGCCTTCCGCGTGGGGACACTGGGAAAGGCCTTGCCGCAGAACAGCACGGACGGGCTCCGCAGGCTAGCGCACCTGAGTAACAACTGGGCGGGCAGCCGGCCTCTGCGCCCGTTTATATCGCTCCTCACAAAATGGCGCCCGCGCCACCCGGAAATGAAACCTTCTGATTGGCCCACCGCGCCCCGCTTCGTAACGACCCTGCCGCGCGCCCCGCCCCTACCCGAAGCGCCTGCGCACAGCCCGGCGGGCGGGCCAAAAAGCGCGGAGTCACGGCTGGAGGGAGGGGGAGCGGAATTAGCGGGCAGTTGGAAAGCCCGCGAAACGCTTTTTCCGCCTGGGAGGCCGGACGATCGCGATTGGGCAGGAGGAAGAGGAGGTGCTCCCCATCTGGGCCCCCACCTTTTTTTCATGCCAATACTCCAAGTTCACGCCCCTTTTTTGCTCAGCCGTCAGCCCCGTCTCCGTCTGAAGAGTGCTTCTGCCCTCATTTGCCTCTCCCTGTGACCCCGGCCCCCTCAGACTCCGCTGCGTCGTCTCTCGGCCCCGTCCAGCCGTTCCTGACTGCTCTTCGCCGGAGTCCGCTTCCCAACCCCCTTTCGCCAGAGCCCGAGAGCTCCGTCGGCTCTGCGTCCTGGCGGTGGGGACTCCCCGCGGAGCGCTTGCGCGTGCCAGGCCACCCGGGACTACGTTTCCCAGCGGGCCGAGCGGCCGGCGCCGCGGCTGCGGTCAGGTGACCCGGTCGCCTGGCCGCAGTGAGTCAGGCTGGGAGGGCGGGGCCGCGCCGGCTGCTGCGGCTGGCACTTGGCCCTTTAATCCCCTTCGTGGGCCCCTCAACCTGGAGCGGATAAATTCTTGGCGCTTCTCCGGGGGTTGTGCTCTTCCGTACTCGGATCGCTTCTTAGGAGTATCCTAACTGCCGGTGGGGAGAACTTCGCCCTAAACCTGGGGTTCCGATCCAGGAACTGGAAGTTGACAGCTTGGCTGCCTGGCTCCTGCATCTGCCTTCTCCACTCACCATCTCATTTCTTTCTCCAGGATTGTCAGTGGCTTCGCCCCGAGGAGAGCTGACTGCCCTGGGCTGCTGCCTCCGGCAGAGCTGAGCCAAAATGTCCCCGGAATCTAAAAAGCTTTTCAACATCATTATTTTAGGAGTTGCCTTTATGTTTATGTTCACTGCCTTTCAAACTTGTGGAAATGTGGCGGTGAGTTGGAATCTGTCCTCCCTCCTTTGAAGTGCCCATCATAATGCAGTCCAGAAATGAAAATAAACGTTCATTATATCTAATAGCGCGCTTTAATTGCATCTTTCATTTTTCCCACCCAGACTTCCTCATTTTTTATGATTAGGTTTGATTTCTTGTGTCAGACATTTCTCATGGGGGCGTTAAGCATTATCGTTTAATCTGATTTGATTAGGGGTTTGGATGTTAACCTGGTTATTTTGTTTCTCGTCTGTATTAAGCGCTTCCTTAGTACTTGGATGGTTACAGCTGCTTTTCCTCCCCCCTCCCTGTCATTGGTTTGCCTTCTGCAGTTCTGTTGTCCTTTTTCTTTTCTCATAATGGACTTCAGTATTAAGTACATTATGAACTTTTACTTTATTCTCTTGCTGAGTACTTGGAGTCACACTTCCCAAGGGTGGGAGGGAGACTGCAAAACATTTTCGTTGATTAGTTTT
Task1_train_25573
Located on Chromosome 17, this mutation impacts MFSD11, SRSF2 (major facilitator superfamily domain containing 11| serine and arginine rich splicing factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Acute myeloid leukemia
GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACACTATCCTTTCCCCACCCAGTGCAATACCTGTAACTTTCTTTTGGGGTTCCAAATGTTCACTGCTTCTTATTGCAATTCTTTTGCCACATCCATTAGAATATGAAGTCCCAGTCAGTACAACAATAGTTGAACTGATTGTTTCTCTAAGAGGATAGTGCATCTTTAACATTTAAAGACAAACCTGCTCCAATACACGCCCACAGAAACTGGTCCCTGGAGGATCAGCCAAATCAGTTAAAATCTGCAATACTGGCCAATATTCTTTTATCAAACAGGAGACCGCAGCTTTAAAGGGGGAAAATGCAGACGTTGGATAAAAACAGCAAGAAATAGTCATTTTCATTAATAGGTCTCAAACAGTTTACGAAACAGCCATTATTATCTAAGCTTCATACACATCCTTTCTGCAGACCCCTCTCTTCAGTATTACTCCCAAAGGTGAGTAACCTCCGAGCAGCACTCCTAATGATAGGAGTCATTCTTACATTAACACGACTCAAAAAGACCTACCCCAAATCCCATTTATGAATTAGGGTTATGTGTCTCGGATTCCCAGACATTACCATTTTCTTAAGAGGACACCGCTCCTTCCTCTTCAGGAGACTTGGGGGGACTCTTCGATCGCGACCTGGATTTGGATTCCCTCTTGGACACTGGGGGAGGACTCCTGGACCGAGACCGGGACCTGGACCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACTTGGACCTTCGTGCGGATCTGGACTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACTTCGAGCGGCTGTAGCGAGATCGGCTGCGAGACCTGGAACGACTCCGACTCCGGGATCGGCTGCGGCGACGCCGCCTAGGGCTGCGGGCGGGACGAGCAAGCACAGCGGGGTTAATTCCAGGCAGCGGGGCCGGCCCCGCCCGCGCGCTCCCGCCCAGGCCGCCATTATCTCGCCGCCAGACGCCATTTCCCCAGTCGCGAGGCGGGGTCCTCCGCCCCGCGCCGCCCACACCCCGGCCACTCCCGGGTCGCAGACGGCGGAAGCTCGCGGGGTGGCCGGAGGGTCGCGAGACGCGGCGTGCACCCCCGCCCCGTCCGGGCCCGCACCACGTGCTTCGCCGCGGACCTTTGTGAGGTCGCCCGGGCCTCCCGCGCGCCCCGCCCCGCCTCCCGCGGTCCCCTCAGCCCCGTTTACCTGCGGCTCCGGCGTCCGTAGCCACCGCCCCCGTACCTGCGGGGTGGCGGTCCCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCGCCATTTGCACCCGCAGCTCGCGGCCGTCCAGCACGGCCCCGTCCATGGCATCCATAGCGTCCTCAGCGTCGCGCTTGTCGTGAAAGCGAACGAAGGCGAAGCCGCGGGACTCCTTGGTGTAGCGGTCCCGCGGGATGTACACGTCGCCGACGCGCCCGTACTTCTCGAAGACGCGCCTCAGCGTGTCGGGCGAGGTGCGGTAGGTCAGGTTGTCCACCTTGAGGGAGGTCATACCCTCCACATCGGGAGGGGGGCGGCCGTAGCTCATAGCTCTGAGTGGCGGCCCGGAGCCCCGCGAACTGGCGCCGGCTTCCTCAGCTCTGGGCGGTGCGACGCCGCGCCTCTCAGGCAGTTGCCTTCCGCGTGGGGACACTGGGAAAGGCCTTGCCGCAGAACAGCACGGACGGGCTCCGCAGGCTAGCGCACCTGAGTAACAACTGGGCGGGCAGCCGGCCTCTGCGCCCGTTTATATCGCTCCTCACAAAATGGCGCCCGCGCCACCCGGAAATGAAACCTTCTGATTGGCCCACCGCGCCCCGCTTCGTAACGACCCTGCCGCGCGCCCCGCCCCTACCCGAAGCGCCTGCGCACAGCCCGGCGGGCGGGCCAAAAAGCGCGGAGTCACGGCTGGAGGGAGGGGGAGCGGAATTAGCGGGCAGTTGGAAAGCCCGCGAAACGCTTTTTCCGCCTGGGAGGCCGGACGATCGCGATTGGGCAGGAGGAAGAGGAGGTGCTCCCCATCTGGGCCCCCACCTTTTTTTCATGCCAATACTCCAAGTTCACGCCCCTTTTTTGCTCAGCCGTCAGCCCCGTCTCCGTCTGAAGAGTGCTTCTGCCCTCATTTGCCTCTCCCTGTGACCCCGGCCCCCTCAGACTCCGCTGCGTCGTCTCTCGGCCCCGTCCAGCCGTTCCTGACTGCTCTTCGCCGGAGTCCGCTTCCCAACCCCCTTTCGCCAGAGCCCGAGAGCTCCGTCGGCTCTGCGTCCTGGCGGTGGGGACTCCCCGCGGAGCGCTTGCGCGTGCCAGGCCACCCGGGACTACGTTTCCCAGCGGGCCGAGCGGCCGGCGCCGCGGCTGCGGTCAGGTGACCCGGTCGCCTGGCCGCAGTGAGTCAGGCTGGGAGGGCGGGGCCGCGCCGGCTGCTGCGGCTGGCACTTGGCCCTTTAATCCCCTTCGTGGGCCCCTCAACCTGGAGCGGATAAATTCTTGGCGCTTCTCCGGGGGTTGTGCTCTTCCGTACTCGGATCGCTTCTTAGGAGTATCCTAACTGCCGGTGGGGAGAACTTCGCCCTAAACCTGGGGTTCCGATCCAGGAACTGGAAGTTGACAGCTTGGCTGCCTGGCTCCTGCATCTGCCTTCTCCACTCACCATCTCATTTCTTTCTCCAGGATTGTCAGTGGCTTCGCCCCGAGGAGAGCTGACTGCCCTGGGCTGCTGCCTCCGGCAGAGCTGAGCCAAAATGTCCCCGGAATCTAAAAAGCTTTTCAACATCATTATTTTAGGAGTTGCCTTTATGTTTATGTTCACTGCCTTTCAAACTTGTGGAAATGTGGCGGTGAGTTGGAATCTGTCCTCCCTCCTTTGAAGTGCCCATCATAATGCAGTCCAGAAATGAAAATAAACGTTCATTATATCTAATAGCGCGCTTTAATTGCATCTTTCATTTTTCCCACCCAGACTTCCTCATTTTTTATGATTAGGTTTGATTTCTTGTGTCAGACATTTCTCATGGGGGCGTTAAGCATTATCGTTTAATCTGATTTGATTAGGGGTTTGGATGTTAACCTGGTTATTTTGTTTCTCGTCTGTATTAAGCGCTTCCTTAGTACTTGGATGGTTACAGCTGCTTTTCCTCCCCCCTCCCTGTCATTGGTTTGCCTTCTGCAGTTCTGTTGTCCTTTTTCTTTTCTCATAATGGACTTCAGTATTAAGTACATTATGAACTTTTACTTTATTCTCTTGCTGAGTACTTGGAGTCACACTTCCCAAGGGTGGGAGGGAGACTGCAAAACATTTTCGTTGATTAGTTTT
GCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACACTATCCTTTCCCCACCCAGTGCAATACCTGTAACTTTCTTTTGGGGTTCCAAATGTTCACTGCTTCTTATTGCAATTCTTTTGCCACATCCATTAGAATATGAAGTCCCAGTCAGTACAACAATAGTTGAACTGATTGTTTCTCTAAGAGGATAGTGCATCTTTAACATTTAAAGACAAACCTGCTCCAATACACGCCCACAGAAACTGGTCCCTGGAGGATCAGCCAAATCAGTTAAAATCTGCAATACTGGCCAATATTCTTTTATCAAACAGGAGACCGCAGCTTTAAAGGGGGAAAATGCAGACGTTGGATAAAAACAGCAAGAAATAGTCATTTTCATTAATAGGTCTCAAACAGTTTACGAAACAGCCATTATTATCTAAGCTTCATACACATCCTTTCTGCAGACCCCTCTCTTCAGTATTACTCCCAAAGGTGAGTAACCTCCGAGCAGCACTCCTAATGATAGGAGTCATTCTTACATTAACACGACTCAAAAAGACCTACCCCAAATCCCATTTATGAATTAGGGTTATGTGTCTCGGATTCCCAGACATTACCATTTTCTTAAGAGGACACCGCTCCTTCCTCTTCAGGAGACTTGGGGGGACTCTTCGATCGCGACCTGGATTTGGATTCCCTCTTGGACACTGGGGGAGGACTCCTGGACCGAGACCGGGACCTGGACCGCGAACGAGATCTGGAGACCGACGAGGACTTGGACTTGGACCTTCGTGCGGATCTGGACTTGGAGGTCGACCGAGATCGAGAACGAGTGCGGGACCGAGACTTCGAGCGGCTGTAGCGAGATCGGCTGCGAGACCTGGAACGACTCCGACTCCGGGATCGGCTGCGGCGACGCCGCCTAGGGCTGCGGGCGGGACGAGCAAGCACAGCGGGGTTAATTCCAGGCAGCGGGGCCGGCCCCGCCCGCGCGCTCCCGCCCAGGCCGCCATTATCTCGCCGCCAGACGCCATTTCCCCAGTCGCGAGGCGGGGTCCTCCGCCCCGCGCCGCCCACACCCCGGCCACTCCCGGGTCGCAGACGGCGGAAGCTCGCGGGGTGGCCGGAGGGTCGCGAGACGCGGCGTGCACCCCCGCCCCGTCCGGGCCCGCACCACGTGCTTCGCCGCGGACCTTTGTGAGGTCGCCCGGGCCTCCCGCGCGCCCCGCCCCGCCTCCCGCGGTCCCCTCAGCCCCGTTTACCTGCGGCTCCGGCGTCCGTAGCCACCGCCCCCGTACCTGCGGGGTGGCGGTCCCCGGCGGCTGTGGTGTGAGTCCGGGAGGCGGCCGTAGCGCGCCATTTGCACCCGCAGCTCGCGGCCGTCCAGCACGGCCCCGTCCATGGCATCCATAGCGTCCTCAGCGTCGCGCTTGTCGTGAAAGCGAACGAAGGCGAAGCCGCGGGACTCCTTGGTGTAGCGGTCCCGCGGGATGTACACGTCGCCGACGCGCCCGTACTTCTCGAAGACGCGCCTCAGCGTGTCGGGCGAGGTGCGGTAGGTCAGGTTGTCCACCTTGAGGGAGGTCATACCCTCCACATCGGGAGGGGGGCGGCCGTAGCTCATAGCTCTGAGTGGCGGCCCGGAGCCCCGCGAACTGGCGCCGGCTTCCTCAGCTCTGGGCGGTGCGACGCCGCGCCTCTCAGGCAGTTGCCTTCCGCGTGGGGACACTGGGAAAGGCCTTGCCGCAGAACAGCACGGACGGGCTCCGCAGGCTAGCGCACCTGAGTAACAACTGGGCGGGCAGCCGGCCTCTGCGCCCGTTTATATCGCTCCTCACAAAATGGCGCCCGCGCCACCCGGAAATGAAACCTTCTGATTGGCCCACCGCGCCCCGCTTCGTAACGACCCTGCCGCGCGCCCCGCCCCTACCCGAAGCGCCTGCGCACAGCCCGGCGGGCGGGCCAAAAAGCGCGGAGTCACGGCTGGAGGGAGGGGGAGCGGAATTAGCGGGCAGTTGGAAAGCCCGCGAAACGCTTTTTCCGCCTGGGAGGCCGGACGATCGCGATTGGGCAGGAGGAAGAGGAGGTGCTCCCCATCTGGGCCCCCACCTTTTTTTCATGCCAATACTCCAAGTTCACGCCCCTTTTTTGCTCAGCCGTCAGCCCCGTCTCCGTCTGAAGAGTGCTTCTGCCCTCATTTGCCTCTCCCTGTGACCCCGGCCCCCTCAGACTCCGCTGCGTCGTCTCTCGGCCCCGTCCAGCCGTTCCTGACTGCTCTTCGCCGGAGTCCGCTTCCCAACCCCCTTTCGCCAGAGCCCGAGAGCTCCGTCGGCTCTGCGTCCTGGCGGTGGGGACTCCCCGCGGAGCGCTTGCGCGTGCCAGGCCACCCGGGACTACGTTTCCCAGCGGGCCGAGCGGCCGGCGCCGCGGCTGCGGTCAGGTGACCCGGTCGCCTGGCCGCAGTGAGTCAGGCTGGGAGGGCGGGGCCGCGCCGGCTGCTGCGGCTGGCACTTGGCCCTTTAATCCCCTTCGTGGGCCCCTCAACCTGGAGCGGATAAATTCTTGGCGCTTCTCCGGGGGTTGTGCTCTTCCGTACTCGGATCGCTTCTTAGGAGTATCCTAACTGCCGGTGGGGAGAACTTCGCCCTAAACCTGGGGTTCCGATCCAGGAACTGGAAGTTGACAGCTTGGCTGCCTGGCTCCTGCATCTGCCTTCTCCACTCACCATCTCATTTCTTTCTCCAGGATTGTCAGTGGCTTCGCCCCGAGGAGAGCTGACTGCCCTGGGCTGCTGCCTCCGGCAGAGCTGAGCCAAAATGTCCCCGGAATCTAAAAAGCTTTTCAACATCATTATTTTAGGAGTTGCCTTTATGTTTATGTTCACTGCCTTTCAAACTTGTGGAAATGTGGCGGTGAGTTGGAATCTGTCCTCCCTCCTTTGAAGTGCCCATCATAATGCAGTCCAGAAATGAAAATAAACGTTCATTATATCTAATAGCGCGCTTTAATTGCATCTTTCATTTTTCCCACCCAGACTTCCTCATTTTTTATGATTAGGTTTGATTTCTTGTGTCAGACATTTCTCATGGGGGCGTTAAGCATTATCGTTTAATCTGATTTGATTAGGGGTTTGGATGTTAACCTGGTTATTTTGTTTCTCGTCTGTATTAAGCGCTTCCTTAGTACTTGGATGGTTACAGCTGCTTTTCCTCCCCCCTCCCTGTCATTGGTTTGCCTTCTGCAGTTCTGTTGTCCTTTTTCTTTTCTCATAATGGACTTCAGTATTAAGTACATTATGAACTTTTACTTTATTCTCTTGCTGAGTACTTGGAGTCACACTTCCCAAGGGTGGGAGGGAGACTGCAAAACATTTTCGTTGATTAGTTTT
Task1_train_25574
The gene SEPTIN9 (septin 9), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Inborn genetic diseases
TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGAGACGGGTGAGGGGAAGGCACTGAAATTGGTCCTGGAGCGCTATTATTGGGGGCTGGGGACCAGCTGTCATCCCTTTTCCTGTGGGCAGGGGAGGCAGTGGTGGGATCCCATGAGACCCGGACTCTGTGGCCTGGTGAGGCAGGGAGCGGCTGGGGAGACACTGTGGGTCTCCACAGGGGTGCGCTGTGGGTCTGGCCTGGGGAAGGAGCTGGTGAATGTGCCTGCCATGTGGGTCCCTCCCTGCTCTGGCCCTGATAACCAGGAGCGGCTGGCTCTCATTTGGAGTGCGGTTGTGGGGACTGTGGAGGTGGCAGCTTCCCAGGTACCATCCCCACTGCCTCCGAGGGAGCAGACCCTGGTGGAGAGGCAGGATGGCTGCAGGGCGGGAGCTGGTGGTTGGCATCACTGCACGGGCTTGTAGTAGTGGATGGGAAGATGCAGGAGAGGCTGATGACTGAGAAAGTTGGTTCCTGTGGACTAAGCTGGGGGAGCCGGACAACCAAGTGGTTAGAACCTTGGGCTCTGGTATCAGCCTGATGTACAGTCTGGCTCTGTGTCTACCCCGTGCCCCACTTTCCCCATCTGTACTGGGGGTACTGGTATTCTTTACATCCCAGGGTTAAGCGGCTGCAGATGTGATGAGCTCGGTAGGCCCGGCGCCTCGCCGGCACTGAAAGCTCCAGTGTCCGCCCTTAGTGTCATTGATGGGGTTTTGTTCCTGCTGCGGTTCTGATTGGTTACAGTTGCGGTCACTTATTATTGGAGGCATGTCCCCCGCTGTGGCTGATGGTAGAGGTGTGTTTGCTGGTGGTGTCCCAGTGTGTGCCTTGGCTGGAGGTGAGGAGGGATAAAAACAGCCGCGACAAGAAGGAAATCAAGGCCGGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCTTGAGGTCAGGAGTCCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGTGCCGCTGCACTCCAGCCAGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAAGGAAATAAAAGTCTTCTCTGGAACTAGAACGTTCCTATGTAGACGTAGCTGGAGGGGGAGGCTGTGTGGTTTGCGCCGTGGCCATGGCAAGACACGACGGGCAGCATCTTCCCACTCCAGCCTGCATCTCTGCCCCAGAACTCATGATGGTTCTCCTAGGATGGGGCTGTCCCTTCCGCTTGCTGAGACATGAAGGACGGGAAGAGACCCCCGGCCCTCACCGCCGCATCGCCTGCCTTCCTCTGCTGCTCCTTAGCAGGAAACATGCCGGAGTGTTCCCTAGCCATCCATTCACCAATTGCATCCCCTCTCTTTATTTTTCAGCCTTGAAAAGATCTTTTGAGGTCGAGGAGGTCGAGACACCCAACTCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGCCACTGTGGCCAGCTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGACTCCCTAAGCCAACGCTCCCCCAAGGCGTCCCTGCGGAGGGTGGAGCTCTCGGGCCCCAAGGCGGCCGAGCCGGTGTCCCGGCGCACTGAGCTGTCCATTGACATCTCGTCCAAGCAGGTGGAGAACGCCGGGGCCATCGGCCCGTCCCGGTTCGGGCTCAAGAGGGCCGAGGTGTTGGGCCACAAGACGCCAGAACCGGCCCCTCGGAGGACGGAGATCACCATCGTCAAACCCCAGGAGTCAGCCCACCGGAGGATGGAGCCCCCTGCCTCCAAGGTCCCCGAGGTGCCCACTGCCCCTGCCACCGACGCAGCCCCCAAGAGGGTGGAGATCCAGATGCCCAAGCCTGCTGAGGCGCCCACCGCCCCCAGCCCAGCCCAGACCTTGGAGAATTCAGAGCCTGCCCCTGTGTCTCAGCTGCAGAGCAGGCTGGAGCCCAAGCCCCAGCCCCCTGTGGCTGAGGCTACACCCCGGAGCCAGGAGGGTGAGTCGCAGAGCGCTAGGTCTTGGATGCTGTGGTAATGGGGGGCCTGGTTGCTGGCTTTGCCACAGAATCTTGGAGGAAGAAGCTGGATATGGGGTGGAGGGTGCTACCCTGGAGACCCAGAAAGACCGGAATGCATGGGGGTGGGGGTCTGCAAGCTCAGGAGAGGTGGCTCTCTCTGTCTGATGGGAACATGCCAAGATGCCCCAAGCGGGACTTGAATGAGAGTTTGGAAAGATTTTCTGGGTTTCAAGGAGCCTCCTTTATGGGTCACCGTGGGCCTTGCTGGGACCTCTGTCTGCTGTGTGTCCCTGGAGGGCCTGGGAGGCTTAGAGAATGAGGAGCCACGCAGGAACCAGGGCAGGCTCATGCAGGGGTGTAGGACAGGGTGGAGTTGAGACCCCTAGAAGGGCTGTCACATTCTGGTGGCTCCTGCTTGAGGAATTGCAGGCTGCCTGGATATGCCCAGCAGAGGCCGAGGGCTTGGGGAAGGGAGGAGGGACGTATGCCTCCTGAGGCTTGCATTGGAGCCCATGGTCTGGTCCTCCTCCCCCAGGAGGGATGGTTGTGGCAGAGGGAGGGGAACATGAGGAGCACCTTAGCCTGCAGGACAAAATTCTCAGGGCACTGGGAAGGGGTGCCTGGACCAGGGGGCTGTGTGATAGCTGCACACGGTTTTATTTGGGGGTGCCCTTCTGGCGAGAGGAGAGAGGCCATGGGGCTCCAGCAGCGTCCTGGGAGGGCTCAAGCCCACAGCCGTGCTGACATGGAGCTTACAGGCAGGGGATTGGTGCCAGTCCTGTGGGACACAGGGCCTGTTTGGAAATGCCAGGCTGTGGGACATGGTTGGGTCCCTTCTCAGAAGCGTGCCCCCTGGCCCCAGCAGGGATCGTGGCTCCATGGGGCTATAGTAAGGTGCCAGCTGGGTTAGAAGCCCCTCAAGAGCCAGGTCTGATTCTGGGCACAGGATCAGAACTCAGTAATGCTCAGTAAGCCTTCTTTAGGTTGGACAAACAGCACAGTCTGGGTTTTTGATTTAGCTGCTGCTTCTTATTTCTAACCGTGGTGAAATACACAACATACAATGTGCAATTTTAGCCACTTTGCAGTGTACGTTTCAGCGGCATTCAGTACATTCACGGTGTTGCGCAGCTGCCACCGCTGTCCATCTCCGGTACCCTTTTCATCCTCCCAAACTGAGCTCCGTCCCCGTTAGACCAAGCTCCCCATGCCCCTCCCCCAGCTGCTGGCAGCCACCATTCTATTTTCTGTCTTTATTATGAATTTATTTGACCACTCTAGGAACCTTGTGTGTGTGGAAAAATACAATAACTGCCCATTTTGTGTCTGGCTCATTTCACTCAGCATGACGTCCTAAAGGTTCATCCGTCGTGCTGTAGCATGGGGCAGAATTTCCTTCCTTTCAGAGGCTGAATAATATTCTGTTGTGCGATGCACTTGTGTTGTGTAGCTGTTCCTCCATCGGTGGACCCTTGGGTTGCTTCCACATCTCTCTAAGTCCCTCTTTCCATCTTCTTTGACTTTTCTTTGACTTTTTTGAGACAGGGTCTTGCTCTGTCCTCCAGGCTGGCGTGCAGTGGTGTGATCACTGCTTACTGCAACCTCTGCCCCCTGGGCTCAA
TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGAGACGGGTGAGGGGAAGGCACTGAAATTGGTCCTGGAGCGCTATTATTGGGGGCTGGGGACCAGCTGTCATCCCTTTTCCTGTGGGCAGGGGAGGCAGTGGTGGGATCCCATGAGACCCGGACTCTGTGGCCTGGTGAGGCAGGGAGCGGCTGGGGAGACACTGTGGGTCTCCACAGGGGTGCGCTGTGGGTCTGGCCTGGGGAAGGAGCTGGTGAATGTGCCTGCCATGTGGGTCCCTCCCTGCTCTGGCCCTGATAACCAGGAGCGGCTGGCTCTCATTTGGAGTGCGGTTGTGGGGACTGTGGAGGTGGCAGCTTCCCAGGTACCATCCCCACTGCCTCCGAGGGAGCAGACCCTGGTGGAGAGGCAGGATGGCTGCAGGGCGGGAGCTGGTGGTTGGCATCACTGCACGGGCTTGTAGTAGTGGATGGGAAGATGCAGGAGAGGCTGATGACTGAGAAAGTTGGTTCCTGTGGACTAAGCTGGGGGAGCCGGACAACCAAGTGGTTAGAACCTTGGGCTCTGGTATCAGCCTGATGTACAGTCTGGCTCTGTGTCTACCCCGTGCCCCACTTTCCCCATCTGTACTGGGGGTACTGGTATTCTTTACATCCCAGGGTTAAGCGGCTGCAGATGTGATGAGCTCGGTAGGCCCGGCGCCTCGCCGGCACTGAAAGCTCCAGTGTCCGCCCTTAGTGTCATTGATGGGGTTTTGTTCCTGCTGCGGTTCTGATTGGTTACAGTTGCGGTCACTTATTATTGGAGGCATGTCCCCCGCTGTGGCTGATGGTAGAGGTGTGTTTGCTGGTGGTGTCCCAGTGTGTGCCTTGGCTGGAGGTGAGGAGGGATAAAAACAGCCGCGACAAGAAGGAAATCAAGGCCGGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCTTGAGGTCAGGAGTCCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGTGCCGCTGCACTCCAGCCAGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAAGGAAATAAAAGTCTTCTCTGGAACTAGAACGTTCCTATGTAGACGTAGCTGGAGGGGGAGGCTGTGTGGTTTGCGCCGTGGCCATGGCAAGACACGACGGGCAGCATCTTCCCACTCCAGCCTGCATCTCTGCCCCAGAACTCATGATGGTTCTCCTAGGATGGGGCTGTCCCTTCCGCTTGCTGAGACATGAAGGACGGGAAGAGACCCCCGGCCCTCACCGCCGCATCGCCTGCCTTCCTCTGCTGCTCCTTAGCAGGAAACATGCCGGAGTGTTCCCTAGCCATCCATTCACCAATTGCATCCCCTCTCTTTATTTTTCAGCCTTGAAAAGATCTTTTGAGGTCGAGGAGGTCGAGACACCCAACTCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGCCACTGTGGCCAGCTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGACTCCCTAAGCCAACGCTCCCCCAAGGCGTCCCTGCGGAGGGTGGAGCTCTCGGGCCCCAAGGCGGCCGAGCCGGTGTCCTGGCGCACTGAGCTGTCCATTGACATCTCGTCCAAGCAGGTGGAGAACGCCGGGGCCATCGGCCCGTCCCGGTTCGGGCTCAAGAGGGCCGAGGTGTTGGGCCACAAGACGCCAGAACCGGCCCCTCGGAGGACGGAGATCACCATCGTCAAACCCCAGGAGTCAGCCCACCGGAGGATGGAGCCCCCTGCCTCCAAGGTCCCCGAGGTGCCCACTGCCCCTGCCACCGACGCAGCCCCCAAGAGGGTGGAGATCCAGATGCCCAAGCCTGCTGAGGCGCCCACCGCCCCCAGCCCAGCCCAGACCTTGGAGAATTCAGAGCCTGCCCCTGTGTCTCAGCTGCAGAGCAGGCTGGAGCCCAAGCCCCAGCCCCCTGTGGCTGAGGCTACACCCCGGAGCCAGGAGGGTGAGTCGCAGAGCGCTAGGTCTTGGATGCTGTGGTAATGGGGGGCCTGGTTGCTGGCTTTGCCACAGAATCTTGGAGGAAGAAGCTGGATATGGGGTGGAGGGTGCTACCCTGGAGACCCAGAAAGACCGGAATGCATGGGGGTGGGGGTCTGCAAGCTCAGGAGAGGTGGCTCTCTCTGTCTGATGGGAACATGCCAAGATGCCCCAAGCGGGACTTGAATGAGAGTTTGGAAAGATTTTCTGGGTTTCAAGGAGCCTCCTTTATGGGTCACCGTGGGCCTTGCTGGGACCTCTGTCTGCTGTGTGTCCCTGGAGGGCCTGGGAGGCTTAGAGAATGAGGAGCCACGCAGGAACCAGGGCAGGCTCATGCAGGGGTGTAGGACAGGGTGGAGTTGAGACCCCTAGAAGGGCTGTCACATTCTGGTGGCTCCTGCTTGAGGAATTGCAGGCTGCCTGGATATGCCCAGCAGAGGCCGAGGGCTTGGGGAAGGGAGGAGGGACGTATGCCTCCTGAGGCTTGCATTGGAGCCCATGGTCTGGTCCTCCTCCCCCAGGAGGGATGGTTGTGGCAGAGGGAGGGGAACATGAGGAGCACCTTAGCCTGCAGGACAAAATTCTCAGGGCACTGGGAAGGGGTGCCTGGACCAGGGGGCTGTGTGATAGCTGCACACGGTTTTATTTGGGGGTGCCCTTCTGGCGAGAGGAGAGAGGCCATGGGGCTCCAGCAGCGTCCTGGGAGGGCTCAAGCCCACAGCCGTGCTGACATGGAGCTTACAGGCAGGGGATTGGTGCCAGTCCTGTGGGACACAGGGCCTGTTTGGAAATGCCAGGCTGTGGGACATGGTTGGGTCCCTTCTCAGAAGCGTGCCCCCTGGCCCCAGCAGGGATCGTGGCTCCATGGGGCTATAGTAAGGTGCCAGCTGGGTTAGAAGCCCCTCAAGAGCCAGGTCTGATTCTGGGCACAGGATCAGAACTCAGTAATGCTCAGTAAGCCTTCTTTAGGTTGGACAAACAGCACAGTCTGGGTTTTTGATTTAGCTGCTGCTTCTTATTTCTAACCGTGGTGAAATACACAACATACAATGTGCAATTTTAGCCACTTTGCAGTGTACGTTTCAGCGGCATTCAGTACATTCACGGTGTTGCGCAGCTGCCACCGCTGTCCATCTCCGGTACCCTTTTCATCCTCCCAAACTGAGCTCCGTCCCCGTTAGACCAAGCTCCCCATGCCCCTCCCCCAGCTGCTGGCAGCCACCATTCTATTTTCTGTCTTTATTATGAATTTATTTGACCACTCTAGGAACCTTGTGTGTGTGGAAAAATACAATAACTGCCCATTTTGTGTCTGGCTCATTTCACTCAGCATGACGTCCTAAAGGTTCATCCGTCGTGCTGTAGCATGGGGCAGAATTTCCTTCCTTTCAGAGGCTGAATAATATTCTGTTGTGCGATGCACTTGTGTTGTGTAGCTGTTCCTCCATCGGTGGACCCTTGGGTTGCTTCCACATCTCTCTAAGTCCCTCTTTCCATCTTCTTTGACTTTTCTTTGACTTTTTTGAGACAGGGTCTTGCTCTGTCCTCCAGGCTGGCGTGCAGTGGTGTGATCACTGCTTACTGCAACCTCTGCCCCCTGGGCTCAA
Task1_train_25575
This alteration occurs within gene SEPTIN9 (septin 9) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Amyotrophic neuralgia
TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGAGACGGGTGAGGGGAAGGCACTGAAATTGGTCCTGGAGCGCTATTATTGGGGGCTGGGGACCAGCTGTCATCCCTTTTCCTGTGGGCAGGGGAGGCAGTGGTGGGATCCCATGAGACCCGGACTCTGTGGCCTGGTGAGGCAGGGAGCGGCTGGGGAGACACTGTGGGTCTCCACAGGGGTGCGCTGTGGGTCTGGCCTGGGGAAGGAGCTGGTGAATGTGCCTGCCATGTGGGTCCCTCCCTGCTCTGGCCCTGATAACCAGGAGCGGCTGGCTCTCATTTGGAGTGCGGTTGTGGGGACTGTGGAGGTGGCAGCTTCCCAGGTACCATCCCCACTGCCTCCGAGGGAGCAGACCCTGGTGGAGAGGCAGGATGGCTGCAGGGCGGGAGCTGGTGGTTGGCATCACTGCACGGGCTTGTAGTAGTGGATGGGAAGATGCAGGAGAGGCTGATGACTGAGAAAGTTGGTTCCTGTGGACTAAGCTGGGGGAGCCGGACAACCAAGTGGTTAGAACCTTGGGCTCTGGTATCAGCCTGATGTACAGTCTGGCTCTGTGTCTACCCCGTGCCCCACTTTCCCCATCTGTACTGGGGGTACTGGTATTCTTTACATCCCAGGGTTAAGCGGCTGCAGATGTGATGAGCTCGGTAGGCCCGGCGCCTCGCCGGCACTGAAAGCTCCAGTGTCCGCCCTTAGTGTCATTGATGGGGTTTTGTTCCTGCTGCGGTTCTGATTGGTTACAGTTGCGGTCACTTATTATTGGAGGCATGTCCCCCGCTGTGGCTGATGGTAGAGGTGTGTTTGCTGGTGGTGTCCCAGTGTGTGCCTTGGCTGGAGGTGAGGAGGGATAAAAACAGCCGCGACAAGAAGGAAATCAAGGCCGGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCTTGAGGTCAGGAGTCCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGTGCCGCTGCACTCCAGCCAGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAAGGAAATAAAAGTCTTCTCTGGAACTAGAACGTTCCTATGTAGACGTAGCTGGAGGGGGAGGCTGTGTGGTTTGCGCCGTGGCCATGGCAAGACACGACGGGCAGCATCTTCCCACTCCAGCCTGCATCTCTGCCCCAGAACTCATGATGGTTCTCCTAGGATGGGGCTGTCCCTTCCGCTTGCTGAGACATGAAGGACGGGAAGAGACCCCCGGCCCTCACCGCCGCATCGCCTGCCTTCCTCTGCTGCTCCTTAGCAGGAAACATGCCGGAGTGTTCCCTAGCCATCCATTCACCAATTGCATCCCCTCTCTTTATTTTTCAGCCTTGAAAAGATCTTTTGAGGTCGAGGAGGTCGAGACACCCAACTCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGCCACTGTGGCCAGCTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGACTCCCTAAGCCAACGCTCCCCCAAGGCGTCCCTGCGGAGGGTGGAGCTCTCGGGCCCCAAGGCGGCCGAGCCGGTGTCCCGGCGCACTGAGCTGTCCATTGACATCTCGTCCAAGCAGGTGGAGAACGCCGGGGCCATCGGCCCGTCCCGGTTCGGGCTCAAGAGGGCCGAGGTGTTGGGCCACAAGACGCCAGAACCGGCCCCTCGGAGGACGGAGATCACCATCGTCAAACCCCAGGAGTCAGCCCACCGGAGGATGGAGCCCCCTGCCTCCAAGGTCCCCGAGGTGCCCACTGCCCCTGCCACCGACGCAGCCCCCAAGAGGGTGGAGATCCAGATGCCCAAGCCTGCTGAGGCGCCCACCGCCCCCAGCCCAGCCCAGACCTTGGAGAATTCAGAGCCTGCCCCTGTGTCTCAGCTGCAGAGCAGGCTGGAGCCCAAGCCCCAGCCCCCTGTGGCTGAGGCTACACCCCGGAGCCAGGAGGGTGAGTCGCAGAGCGCTAGGTCTTGGATGCTGTGGTAATGGGGGGCCTGGTTGCTGGCTTTGCCACAGAATCTTGGAGGAAGAAGCTGGATATGGGGTGGAGGGTGCTACCCTGGAGACCCAGAAAGACCGGAATGCATGGGGGTGGGGGTCTGCAAGCTCAGGAGAGGTGGCTCTCTCTGTCTGATGGGAACATGCCAAGATGCCCCAAGCGGGACTTGAATGAGAGTTTGGAAAGATTTTCTGGGTTTCAAGGAGCCTCCTTTATGGGTCACCGTGGGCCTTGCTGGGACCTCTGTCTGCTGTGTGTCCCTGGAGGGCCTGGGAGGCTTAGAGAATGAGGAGCCACGCAGGAACCAGGGCAGGCTCATGCAGGGGTGTAGGACAGGGTGGAGTTGAGACCCCTAGAAGGGCTGTCACATTCTGGTGGCTCCTGCTTGAGGAATTGCAGGCTGCCTGGATATGCCCAGCAGAGGCCGAGGGCTTGGGGAAGGGAGGAGGGACGTATGCCTCCTGAGGCTTGCATTGGAGCCCATGGTCTGGTCCTCCTCCCCCAGGAGGGATGGTTGTGGCAGAGGGAGGGGAACATGAGGAGCACCTTAGCCTGCAGGACAAAATTCTCAGGGCACTGGGAAGGGGTGCCTGGACCAGGGGGCTGTGTGATAGCTGCACACGGTTTTATTTGGGGGTGCCCTTCTGGCGAGAGGAGAGAGGCCATGGGGCTCCAGCAGCGTCCTGGGAGGGCTCAAGCCCACAGCCGTGCTGACATGGAGCTTACAGGCAGGGGATTGGTGCCAGTCCTGTGGGACACAGGGCCTGTTTGGAAATGCCAGGCTGTGGGACATGGTTGGGTCCCTTCTCAGAAGCGTGCCCCCTGGCCCCAGCAGGGATCGTGGCTCCATGGGGCTATAGTAAGGTGCCAGCTGGGTTAGAAGCCCCTCAAGAGCCAGGTCTGATTCTGGGCACAGGATCAGAACTCAGTAATGCTCAGTAAGCCTTCTTTAGGTTGGACAAACAGCACAGTCTGGGTTTTTGATTTAGCTGCTGCTTCTTATTTCTAACCGTGGTGAAATACACAACATACAATGTGCAATTTTAGCCACTTTGCAGTGTACGTTTCAGCGGCATTCAGTACATTCACGGTGTTGCGCAGCTGCCACCGCTGTCCATCTCCGGTACCCTTTTCATCCTCCCAAACTGAGCTCCGTCCCCGTTAGACCAAGCTCCCCATGCCCCTCCCCCAGCTGCTGGCAGCCACCATTCTATTTTCTGTCTTTATTATGAATTTATTTGACCACTCTAGGAACCTTGTGTGTGTGGAAAAATACAATAACTGCCCATTTTGTGTCTGGCTCATTTCACTCAGCATGACGTCCTAAAGGTTCATCCGTCGTGCTGTAGCATGGGGCAGAATTTCCTTCCTTTCAGAGGCTGAATAATATTCTGTTGTGCGATGCACTTGTGTTGTGTAGCTGTTCCTCCATCGGTGGACCCTTGGGTTGCTTCCACATCTCTCTAAGTCCCTCTTTCCATCTTCTTTGACTTTTCTTTGACTTTTTTGAGACAGGGTCTTGCTCTGTCCTCCAGGCTGGCGTGCAGTGGTGTGATCACTGCTTACTGCAACCTCTGCCCCCTGGGCTCAA
TCATATAAAGATCCAGATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGAGACGGGTGAGGGGAAGGCACTGAAATTGGTCCTGGAGCGCTATTATTGGGGGCTGGGGACCAGCTGTCATCCCTTTTCCTGTGGGCAGGGGAGGCAGTGGTGGGATCCCATGAGACCCGGACTCTGTGGCCTGGTGAGGCAGGGAGCGGCTGGGGAGACACTGTGGGTCTCCACAGGGGTGCGCTGTGGGTCTGGCCTGGGGAAGGAGCTGGTGAATGTGCCTGCCATGTGGGTCCCTCCCTGCTCTGGCCCTGATAACCAGGAGCGGCTGGCTCTCATTTGGAGTGCGGTTGTGGGGACTGTGGAGGTGGCAGCTTCCCAGGTACCATCCCCACTGCCTCCGAGGGAGCAGACCCTGGTGGAGAGGCAGGATGGCTGCAGGGCGGGAGCTGGTGGTTGGCATCACTGCACGGGCTTGTAGTAGTGGATGGGAAGATGCAGGAGAGGCTGATGACTGAGAAAGTTGGTTCCTGTGGACTAAGCTGGGGGAGCCGGACAACCAAGTGGTTAGAACCTTGGGCTCTGGTATCAGCCTGATGTACAGTCTGGCTCTGTGTCTACCCCGTGCCCCACTTTCCCCATCTGTACTGGGGGTACTGGTATTCTTTACATCCCAGGGTTAAGCGGCTGCAGATGTGATGAGCTCGGTAGGCCCGGCGCCTCGCCGGCACTGAAAGCTCCAGTGTCCGCCCTTAGTGTCATTGATGGGGTTTTGTTCCTGCTGCGGTTCTGATTGGTTACAGTTGCGGTCACTTATTATTGGAGGCATGTCCCCCGCTGTGGCTGATGGTAGAGGTGTGTTTGCTGGTGGTGTCCCAGTGTGTGCCTTGGCTGGAGGTGAGGAGGGATAAAAACAGCCGCGACAAGAAGGAAATCAAGGCCGGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCTTGAGGTCAGGAGTCCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGTGCCGCTGCACTCCAGCCAGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAAGGAAATAAAAGTCTTCTCTGGAACTAGAACGTTCCTATGTAGACGTAGCTGGAGGGGGAGGCTGTGTGGTTTGCGCCGTGGCCATGGCAAGACACGACGGGCAGCATCTTCCCACTCCAGCCTGCATCTCTGCCCCAGAACTCATGATGGTTCTCCTAGGATGGGGCTGTCCCTTCCGCTTGCTGAGACATGAAGGACGGGAAGAGACCCCCGGCCCTCACCGCCGCATCGCCTGCCTTCCTCTGCTGCTCCTTAGCAGGAAACATGCCGGAGTGTTCCCTAGCCATCCATTCACCAATTGCATCCCCTCTCTTTATTTTTCAGCCTTGAAAAGATCTTTTGAGGTCGAGGAGGTCGAGACACCCAACTCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGCCACTGTGGCCAGCTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGACTCCCTAAGCCAACGCTCCCCCAAGGCGTCCCTGCGGAGGGTGGAGCTCTCGGGCCCCAAGGCGGCCGAGCCGGTGTCCTGGCGCACTGAGCTGTCCATTGACATCTCGTCCAAGCAGGTGGAGAACGCCGGGGCCATCGGCCCGTCCCGGTTCGGGCTCAAGAGGGCCGAGGTGTTGGGCCACAAGACGCCAGAACCGGCCCCTCGGAGGACGGAGATCACCATCGTCAAACCCCAGGAGTCAGCCCACCGGAGGATGGAGCCCCCTGCCTCCAAGGTCCCCGAGGTGCCCACTGCCCCTGCCACCGACGCAGCCCCCAAGAGGGTGGAGATCCAGATGCCCAAGCCTGCTGAGGCGCCCACCGCCCCCAGCCCAGCCCAGACCTTGGAGAATTCAGAGCCTGCCCCTGTGTCTCAGCTGCAGAGCAGGCTGGAGCCCAAGCCCCAGCCCCCTGTGGCTGAGGCTACACCCCGGAGCCAGGAGGGTGAGTCGCAGAGCGCTAGGTCTTGGATGCTGTGGTAATGGGGGGCCTGGTTGCTGGCTTTGCCACAGAATCTTGGAGGAAGAAGCTGGATATGGGGTGGAGGGTGCTACCCTGGAGACCCAGAAAGACCGGAATGCATGGGGGTGGGGGTCTGCAAGCTCAGGAGAGGTGGCTCTCTCTGTCTGATGGGAACATGCCAAGATGCCCCAAGCGGGACTTGAATGAGAGTTTGGAAAGATTTTCTGGGTTTCAAGGAGCCTCCTTTATGGGTCACCGTGGGCCTTGCTGGGACCTCTGTCTGCTGTGTGTCCCTGGAGGGCCTGGGAGGCTTAGAGAATGAGGAGCCACGCAGGAACCAGGGCAGGCTCATGCAGGGGTGTAGGACAGGGTGGAGTTGAGACCCCTAGAAGGGCTGTCACATTCTGGTGGCTCCTGCTTGAGGAATTGCAGGCTGCCTGGATATGCCCAGCAGAGGCCGAGGGCTTGGGGAAGGGAGGAGGGACGTATGCCTCCTGAGGCTTGCATTGGAGCCCATGGTCTGGTCCTCCTCCCCCAGGAGGGATGGTTGTGGCAGAGGGAGGGGAACATGAGGAGCACCTTAGCCTGCAGGACAAAATTCTCAGGGCACTGGGAAGGGGTGCCTGGACCAGGGGGCTGTGTGATAGCTGCACACGGTTTTATTTGGGGGTGCCCTTCTGGCGAGAGGAGAGAGGCCATGGGGCTCCAGCAGCGTCCTGGGAGGGCTCAAGCCCACAGCCGTGCTGACATGGAGCTTACAGGCAGGGGATTGGTGCCAGTCCTGTGGGACACAGGGCCTGTTTGGAAATGCCAGGCTGTGGGACATGGTTGGGTCCCTTCTCAGAAGCGTGCCCCCTGGCCCCAGCAGGGATCGTGGCTCCATGGGGCTATAGTAAGGTGCCAGCTGGGTTAGAAGCCCCTCAAGAGCCAGGTCTGATTCTGGGCACAGGATCAGAACTCAGTAATGCTCAGTAAGCCTTCTTTAGGTTGGACAAACAGCACAGTCTGGGTTTTTGATTTAGCTGCTGCTTCTTATTTCTAACCGTGGTGAAATACACAACATACAATGTGCAATTTTAGCCACTTTGCAGTGTACGTTTCAGCGGCATTCAGTACATTCACGGTGTTGCGCAGCTGCCACCGCTGTCCATCTCCGGTACCCTTTTCATCCTCCCAAACTGAGCTCCGTCCCCGTTAGACCAAGCTCCCCATGCCCCTCCCCCAGCTGCTGGCAGCCACCATTCTATTTTCTGTCTTTATTATGAATTTATTTGACCACTCTAGGAACCTTGTGTGTGTGGAAAAATACAATAACTGCCCATTTTGTGTCTGGCTCATTTCACTCAGCATGACGTCCTAAAGGTTCATCCGTCGTGCTGTAGCATGGGGCAGAATTTCCTTCCTTTCAGAGGCTGAATAATATTCTGTTGTGCGATGCACTTGTGTTGTGTAGCTGTTCCTCCATCGGTGGACCCTTGGGTTGCTTCCACATCTCTCTAAGTCCCTCTTTCCATCTTCTTTGACTTTTCTTTGACTTTTTTGAGACAGGGTCTTGCTCTGTCCTCCAGGCTGGCGTGCAGTGGTGTGATCACTGCTTACTGCAACCTCTGCCCCCTGGGCTCAA
Task1_train_25576
Consider this mutation in SEPTIN9 (septin 9) on Chromosome 17. Is this a benign change or a disease-causing variant?
Pathogenic; Amyotrophic neuralgia
ATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGAGACGGGTGAGGGGAAGGCACTGAAATTGGTCCTGGAGCGCTATTATTGGGGGCTGGGGACCAGCTGTCATCCCTTTTCCTGTGGGCAGGGGAGGCAGTGGTGGGATCCCATGAGACCCGGACTCTGTGGCCTGGTGAGGCAGGGAGCGGCTGGGGAGACACTGTGGGTCTCCACAGGGGTGCGCTGTGGGTCTGGCCTGGGGAAGGAGCTGGTGAATGTGCCTGCCATGTGGGTCCCTCCCTGCTCTGGCCCTGATAACCAGGAGCGGCTGGCTCTCATTTGGAGTGCGGTTGTGGGGACTGTGGAGGTGGCAGCTTCCCAGGTACCATCCCCACTGCCTCCGAGGGAGCAGACCCTGGTGGAGAGGCAGGATGGCTGCAGGGCGGGAGCTGGTGGTTGGCATCACTGCACGGGCTTGTAGTAGTGGATGGGAAGATGCAGGAGAGGCTGATGACTGAGAAAGTTGGTTCCTGTGGACTAAGCTGGGGGAGCCGGACAACCAAGTGGTTAGAACCTTGGGCTCTGGTATCAGCCTGATGTACAGTCTGGCTCTGTGTCTACCCCGTGCCCCACTTTCCCCATCTGTACTGGGGGTACTGGTATTCTTTACATCCCAGGGTTAAGCGGCTGCAGATGTGATGAGCTCGGTAGGCCCGGCGCCTCGCCGGCACTGAAAGCTCCAGTGTCCGCCCTTAGTGTCATTGATGGGGTTTTGTTCCTGCTGCGGTTCTGATTGGTTACAGTTGCGGTCACTTATTATTGGAGGCATGTCCCCCGCTGTGGCTGATGGTAGAGGTGTGTTTGCTGGTGGTGTCCCAGTGTGTGCCTTGGCTGGAGGTGAGGAGGGATAAAAACAGCCGCGACAAGAAGGAAATCAAGGCCGGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCTTGAGGTCAGGAGTCCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGTGCCGCTGCACTCCAGCCAGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAAGGAAATAAAAGTCTTCTCTGGAACTAGAACGTTCCTATGTAGACGTAGCTGGAGGGGGAGGCTGTGTGGTTTGCGCCGTGGCCATGGCAAGACACGACGGGCAGCATCTTCCCACTCCAGCCTGCATCTCTGCCCCAGAACTCATGATGGTTCTCCTAGGATGGGGCTGTCCCTTCCGCTTGCTGAGACATGAAGGACGGGAAGAGACCCCCGGCCCTCACCGCCGCATCGCCTGCCTTCCTCTGCTGCTCCTTAGCAGGAAACATGCCGGAGTGTTCCCTAGCCATCCATTCACCAATTGCATCCCCTCTCTTTATTTTTCAGCCTTGAAAAGATCTTTTGAGGTCGAGGAGGTCGAGACACCCAACTCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGCCACTGTGGCCAGCTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGACTCCCTAAGCCAACGCTCCCCCAAGGCGTCCCTGCGGAGGGTGGAGCTCTCGGGCCCCAAGGCGGCCGAGCCGGTGTCCCGGCGCACTGAGCTGTCCATTGACATCTCGTCCAAGCAGGTGGAGAACGCCGGGGCCATCGGCCCGTCCCGGTTCGGGCTCAAGAGGGCCGAGGTGTTGGGCCACAAGACGCCAGAACCGGCCCCTCGGAGGACGGAGATCACCATCGTCAAACCCCAGGAGTCAGCCCACCGGAGGATGGAGCCCCCTGCCTCCAAGGTCCCCGAGGTGCCCACTGCCCCTGCCACCGACGCAGCCCCCAAGAGGGTGGAGATCCAGATGCCCAAGCCTGCTGAGGCGCCCACCGCCCCCAGCCCAGCCCAGACCTTGGAGAATTCAGAGCCTGCCCCTGTGTCTCAGCTGCAGAGCAGGCTGGAGCCCAAGCCCCAGCCCCCTGTGGCTGAGGCTACACCCCGGAGCCAGGAGGGTGAGTCGCAGAGCGCTAGGTCTTGGATGCTGTGGTAATGGGGGGCCTGGTTGCTGGCTTTGCCACAGAATCTTGGAGGAAGAAGCTGGATATGGGGTGGAGGGTGCTACCCTGGAGACCCAGAAAGACCGGAATGCATGGGGGTGGGGGTCTGCAAGCTCAGGAGAGGTGGCTCTCTCTGTCTGATGGGAACATGCCAAGATGCCCCAAGCGGGACTTGAATGAGAGTTTGGAAAGATTTTCTGGGTTTCAAGGAGCCTCCTTTATGGGTCACCGTGGGCCTTGCTGGGACCTCTGTCTGCTGTGTGTCCCTGGAGGGCCTGGGAGGCTTAGAGAATGAGGAGCCACGCAGGAACCAGGGCAGGCTCATGCAGGGGTGTAGGACAGGGTGGAGTTGAGACCCCTAGAAGGGCTGTCACATTCTGGTGGCTCCTGCTTGAGGAATTGCAGGCTGCCTGGATATGCCCAGCAGAGGCCGAGGGCTTGGGGAAGGGAGGAGGGACGTATGCCTCCTGAGGCTTGCATTGGAGCCCATGGTCTGGTCCTCCTCCCCCAGGAGGGATGGTTGTGGCAGAGGGAGGGGAACATGAGGAGCACCTTAGCCTGCAGGACAAAATTCTCAGGGCACTGGGAAGGGGTGCCTGGACCAGGGGGCTGTGTGATAGCTGCACACGGTTTTATTTGGGGGTGCCCTTCTGGCGAGAGGAGAGAGGCCATGGGGCTCCAGCAGCGTCCTGGGAGGGCTCAAGCCCACAGCCGTGCTGACATGGAGCTTACAGGCAGGGGATTGGTGCCAGTCCTGTGGGACACAGGGCCTGTTTGGAAATGCCAGGCTGTGGGACATGGTTGGGTCCCTTCTCAGAAGCGTGCCCCCTGGCCCCAGCAGGGATCGTGGCTCCATGGGGCTATAGTAAGGTGCCAGCTGGGTTAGAAGCCCCTCAAGAGCCAGGTCTGATTCTGGGCACAGGATCAGAACTCAGTAATGCTCAGTAAGCCTTCTTTAGGTTGGACAAACAGCACAGTCTGGGTTTTTGATTTAGCTGCTGCTTCTTATTTCTAACCGTGGTGAAATACACAACATACAATGTGCAATTTTAGCCACTTTGCAGTGTACGTTTCAGCGGCATTCAGTACATTCACGGTGTTGCGCAGCTGCCACCGCTGTCCATCTCCGGTACCCTTTTCATCCTCCCAAACTGAGCTCCGTCCCCGTTAGACCAAGCTCCCCATGCCCCTCCCCCAGCTGCTGGCAGCCACCATTCTATTTTCTGTCTTTATTATGAATTTATTTGACCACTCTAGGAACCTTGTGTGTGTGGAAAAATACAATAACTGCCCATTTTGTGTCTGGCTCATTTCACTCAGCATGACGTCCTAAAGGTTCATCCGTCGTGCTGTAGCATGGGGCAGAATTTCCTTCCTTTCAGAGGCTGAATAATATTCTGTTGTGCGATGCACTTGTGTTGTGTAGCTGTTCCTCCATCGGTGGACCCTTGGGTTGCTTCCACATCTCTCTAAGTCCCTCTTTCCATCTTCTTTGACTTTTCTTTGACTTTTTTGAGACAGGGTCTTGCTCTGTCCTCCAGGCTGGCGTGCAGTGGTGTGATCACTGCTTACTGCAACCTCTGCCCCCTGGGCTCAAGTGATTCCCCAGCCTC
ATTTCTACTCTCTTGAGAAGTGAACAGCTCTGGCCACGCCGGGCCCATATCCTCTAGGGCAGTGACGGAGCTGAGACAGGGCCTGTGACAACTGAGAGTTCTCTGGAGTCCACACGGCTCCTTGCCCAGCTTCTGGTGGAGGTTGAGCTTAGTGACCCAGGATTTCGTCTGTGTCCACCAAGAAGGAGAGGTGCCTGTGGCTTAGAGAGGGCGCCCACAGGAGTGCCTTGCCCAGGAAGCTGGCAGCTGAGGCGGCCAGGGTTAGGGGGTTGGGCTTCCTCTTCCCCTCCCCAGTGCCTGAGTGCATTTGGAGGAAGAGAGACGGGTGAGGGGAAGGCACTGAAATTGGTCCTGGAGCGCTATTATTGGGGGCTGGGGACCAGCTGTCATCCCTTTTCCTGTGGGCAGGGGAGGCAGTGGTGGGATCCCATGAGACCCGGACTCTGTGGCCTGGTGAGGCAGGGAGCGGCTGGGGAGACACTGTGGGTCTCCACAGGGGTGCGCTGTGGGTCTGGCCTGGGGAAGGAGCTGGTGAATGTGCCTGCCATGTGGGTCCCTCCCTGCTCTGGCCCTGATAACCAGGAGCGGCTGGCTCTCATTTGGAGTGCGGTTGTGGGGACTGTGGAGGTGGCAGCTTCCCAGGTACCATCCCCACTGCCTCCGAGGGAGCAGACCCTGGTGGAGAGGCAGGATGGCTGCAGGGCGGGAGCTGGTGGTTGGCATCACTGCACGGGCTTGTAGTAGTGGATGGGAAGATGCAGGAGAGGCTGATGACTGAGAAAGTTGGTTCCTGTGGACTAAGCTGGGGGAGCCGGACAACCAAGTGGTTAGAACCTTGGGCTCTGGTATCAGCCTGATGTACAGTCTGGCTCTGTGTCTACCCCGTGCCCCACTTTCCCCATCTGTACTGGGGGTACTGGTATTCTTTACATCCCAGGGTTAAGCGGCTGCAGATGTGATGAGCTCGGTAGGCCCGGCGCCTCGCCGGCACTGAAAGCTCCAGTGTCCGCCCTTAGTGTCATTGATGGGGTTTTGTTCCTGCTGCGGTTCTGATTGGTTACAGTTGCGGTCACTTATTATTGGAGGCATGTCCCCCGCTGTGGCTGATGGTAGAGGTGTGTTTGCTGGTGGTGTCCCAGTGTGTGCCTTGGCTGGAGGTGAGGAGGGATAAAAACAGCCGCGACAAGAAGGAAATCAAGGCCGGGCACGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCGCTTGAGGTCAGGAGTCCGAGACCAGACTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCCCGTGCCTATAATCCCAGCTACTGGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCGGGAGGTGCCGCTGCACTCCAGCCAGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAGAAGGAAATAAAAGTCTTCTCTGGAACTAGAACGTTCCTATGTAGACGTAGCTGGAGGGGGAGGCTGTGTGGTTTGCGCCGTGGCCATGGCAAGACACGACGGGCAGCATCTTCCCACTCCAGCCTGCATCTCTGCCCCAGAACTCATGATGGTTCTCCTAGGATGGGGCTGTCCCTTCCGCTTGCTGAGACATGAAGGACGGGAAGAGACCCCCGGCCCTCACCGCCGCATCGCCTGCCTTCCTCTGCTGCTCCTTAGCAGGAAACATGCCGGAGTGTTCCCTAGCCATCCATTCACCAATTGCATCCCCTCTCTTTATTTTTCAGCCTTGAAAAGATCTTTTGAGGTCGAGGAGGTCGAGACACCCAACTCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGCCACTGTGGCCAGCTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGACTCCCTAAGCCAACGCTCCCCCAAGGCGTCCCTGCGGAGGGTGGAGCTCTCGGGCCCCAAGGCGGCCGAGCCGGTGTCCCGGCGCACTGAGCTGTTCATTGACATCTCGTCCAAGCAGGTGGAGAACGCCGGGGCCATCGGCCCGTCCCGGTTCGGGCTCAAGAGGGCCGAGGTGTTGGGCCACAAGACGCCAGAACCGGCCCCTCGGAGGACGGAGATCACCATCGTCAAACCCCAGGAGTCAGCCCACCGGAGGATGGAGCCCCCTGCCTCCAAGGTCCCCGAGGTGCCCACTGCCCCTGCCACCGACGCAGCCCCCAAGAGGGTGGAGATCCAGATGCCCAAGCCTGCTGAGGCGCCCACCGCCCCCAGCCCAGCCCAGACCTTGGAGAATTCAGAGCCTGCCCCTGTGTCTCAGCTGCAGAGCAGGCTGGAGCCCAAGCCCCAGCCCCCTGTGGCTGAGGCTACACCCCGGAGCCAGGAGGGTGAGTCGCAGAGCGCTAGGTCTTGGATGCTGTGGTAATGGGGGGCCTGGTTGCTGGCTTTGCCACAGAATCTTGGAGGAAGAAGCTGGATATGGGGTGGAGGGTGCTACCCTGGAGACCCAGAAAGACCGGAATGCATGGGGGTGGGGGTCTGCAAGCTCAGGAGAGGTGGCTCTCTCTGTCTGATGGGAACATGCCAAGATGCCCCAAGCGGGACTTGAATGAGAGTTTGGAAAGATTTTCTGGGTTTCAAGGAGCCTCCTTTATGGGTCACCGTGGGCCTTGCTGGGACCTCTGTCTGCTGTGTGTCCCTGGAGGGCCTGGGAGGCTTAGAGAATGAGGAGCCACGCAGGAACCAGGGCAGGCTCATGCAGGGGTGTAGGACAGGGTGGAGTTGAGACCCCTAGAAGGGCTGTCACATTCTGGTGGCTCCTGCTTGAGGAATTGCAGGCTGCCTGGATATGCCCAGCAGAGGCCGAGGGCTTGGGGAAGGGAGGAGGGACGTATGCCTCCTGAGGCTTGCATTGGAGCCCATGGTCTGGTCCTCCTCCCCCAGGAGGGATGGTTGTGGCAGAGGGAGGGGAACATGAGGAGCACCTTAGCCTGCAGGACAAAATTCTCAGGGCACTGGGAAGGGGTGCCTGGACCAGGGGGCTGTGTGATAGCTGCACACGGTTTTATTTGGGGGTGCCCTTCTGGCGAGAGGAGAGAGGCCATGGGGCTCCAGCAGCGTCCTGGGAGGGCTCAAGCCCACAGCCGTGCTGACATGGAGCTTACAGGCAGGGGATTGGTGCCAGTCCTGTGGGACACAGGGCCTGTTTGGAAATGCCAGGCTGTGGGACATGGTTGGGTCCCTTCTCAGAAGCGTGCCCCCTGGCCCCAGCAGGGATCGTGGCTCCATGGGGCTATAGTAAGGTGCCAGCTGGGTTAGAAGCCCCTCAAGAGCCAGGTCTGATTCTGGGCACAGGATCAGAACTCAGTAATGCTCAGTAAGCCTTCTTTAGGTTGGACAAACAGCACAGTCTGGGTTTTTGATTTAGCTGCTGCTTCTTATTTCTAACCGTGGTGAAATACACAACATACAATGTGCAATTTTAGCCACTTTGCAGTGTACGTTTCAGCGGCATTCAGTACATTCACGGTGTTGCGCAGCTGCCACCGCTGTCCATCTCCGGTACCCTTTTCATCCTCCCAAACTGAGCTCCGTCCCCGTTAGACCAAGCTCCCCATGCCCCTCCCCCAGCTGCTGGCAGCCACCATTCTATTTTCTGTCTTTATTATGAATTTATTTGACCACTCTAGGAACCTTGTGTGTGTGGAAAAATACAATAACTGCCCATTTTGTGTCTGGCTCATTTCACTCAGCATGACGTCCTAAAGGTTCATCCGTCGTGCTGTAGCATGGGGCAGAATTTCCTTCCTTTCAGAGGCTGAATAATATTCTGTTGTGCGATGCACTTGTGTTGTGTAGCTGTTCCTCCATCGGTGGACCCTTGGGTTGCTTCCACATCTCTCTAAGTCCCTCTTTCCATCTTCTTTGACTTTTCTTTGACTTTTTTGAGACAGGGTCTTGCTCTGTCCTCCAGGCTGGCGTGCAGTGGTGTGATCACTGCTTACTGCAACCTCTGCCCCCTGGGCTCAAGTGATTCCCCAGCCTC
Task1_train_25577
This sequence variant lies in DNAH17, DNAH17-AS1 (dynein axonemal heavy chain 17| DNAH17 antisense RNA 1) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Spermatogenic failure 39
GAATTCTCTGGAGATGCACCCAGGCTGTTGCAGGAACCAGTAAGTATTTCAACACCTTGTCCCTGCTGAGTTGGGTTCCACTCCCAGCCCTTTTCTGTCCTGTTACTACTCTGGCAATGACCTGTCAGAGGACTGGTTAGCGGCCACCTCCGTATCAGACAGTCTTGAAGGCCAACTGTCAGCTACGAGGTTAAACCTAGAGCATCAGGGGCCGTTGCCTGCTTGAGGTCTCCTCTGGAAACCTGCAGAAGACAGCTGTGTCTCTCCAAGTCACCACTTGAGGGGGCCCAATACTCGCGGTAAAGCTGCTCCCAGCACCTGCCTTTCCCTGTCTTCCCCAGGACAGCCAAGTCCTGGTGCCCTGGTGATCCCAGACACCCCCATGCCCAGTCTGCTGAGCGTGCAGCTTGTCCCCTGGCAGGACTGGGGCCTTTCGGAACAGCACCGCTTCCAGCTAGGCCAAGCCTCTCCTGTGGTCTCCATTGGAGCCCGTGAACATTCAGTGCCCAGAGTAGGGGCTATATAAATATTCTGGGGTTTGTTCATGGACGTCGGAGGTGCTCAGCAGCTCTGCTCCTGTGCTGGGGGCAAGGGAGAGGGTCCCCACGGTAACAGCCAGCACTGCCCATGGTTTGGGGTCCCCATTCTCTTGGTCATGGGGCCTCCAGCCCTGGGGCTGGGGAATGACTGAGGCAGAGGGAGCATAAGGAGAGGAGGAAGCAGCCACCCCAGGCACCTCTAATCCTGCTGGCAGACCTGTGTCACCAACACCGCCTTACAGGTTAGAAGGTGGAGGCAGAGGGAGTCCACATCACTGCCAAGCCGAGAGTCAGGGGTTAAGTTGGTGTATAAAGCAGGCTCTCAGCCGGGCACAACGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGCACGCCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTAAACCCGGGAGGCGGAGGTTCAGTGAACCGAGACTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAAACTCCGTCTCAAAAAAACAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAGCAGGCTCTCCACCCAGGTTGTGGGGCTTAAGCAGCCCAGGAGGCATTTGCACGTCCACACCCCACATGCTCCTGGTCTATCCTGTGGTGGGAGGACCTTGACACCGCCAACGCCCTGACTTGCATTTCCTTTTGGAAGAGCACAATTGTCCCAGGCCGCTAGGTCGGCCTCCACTTACCTTAGACAGCCCAGTGCTTCTCAACCCCCAGCATGCGTCAGGATCACCTGAGGCATTTGTTTAAAATGCAGAAATGCTCCTCCTAACAAGTGGGGCCCACGCTGGAGATTTTAACAAGCATCAGTGGGGGTGGGGCGCTGGCCCAGGCTGCTCCCCAATCCGAAGTCCCTGCACCCAGGTCGCCCCAGCCACTCCGCTGCACGCTCTGTGCCCCGGCATGGTTGTTCCCAAAACACACGGGCGCATTTCCTCCCTCCTCCTCTTCCTCCCTCTCCCCCTCCTTTCTTTCTTTCCTGCCATTCCCTTTCAGCACCTCCTATGCCCAGCTCCGCTGATACCAATAACAAAGCACTTTGTCTTTCTTTCCTAAGCAAAATTAATTATTCTCCCACCTGTATTTTGTTACACGTTTGCTACCATACATGTAACCTGTAATCTGATTCTGTTTTCAATGTGTTTGCCTAACCAGGCTTTGGGACCCTGGAGGGCAAGAGCTCAATGGCACCACACCACCCTTCGGTGCTTGGAACGTTGCAGAGAGGCAAGGAGGGTCTATCTGGCGTGTGAGGTCACAGGAAAGCTGACGAGCCAGTCACCCGACGTGACCCCGAGGCCGCAGGCAGGGGACTTTACCTGCACGGCAATCACAGACAAGACTTCCACTGAGATGCGATTAAACTCGTCAAAGCAGCCCCAGGCTCCCGTCTGGGCCAGGCCCTTGTAGATATTTCCACAGGACTGGAAAGGGCGAGATGGAGAAAGGAAGAGCTGGGAGGGTGACAGGGAGGGCGGGCGCTGCAGGGGCCTCCCCCTGCCTCTTCGGCTGTGTTTTCTCTTCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAGGCCCCACCTGGGCCAATCAGAAGGACTCGTCCCATCTACACCTGGGATTCCAGGTGGATGTTAAGTCCCTTCCAGGGAGATCCAACTTCAGATTTCACTTTTCTAAAATCCAGGAGGCGGATGTGGACTGCGTGGCCCTGACAGTGAACATGGGCTGCTGGTCCCATCCTCAGCCTCAGGAGGGGGCCCCCAGATTGTGGGGCTCAGATCCAAGCTGGGGAGGGGAGACCCTCTGCAGGCCTAGGGTCCAAAACTCAGGGTTCCATCCCCCTTGCCTTCCCGTCTTGCAAGAGGCTGCTGCAGCCTGGAGCTCCGAGGTATCCCCTTCCCCTCCCTGGCCTCCTGTGAGCCGACGATGTCCTGTGCAGGCTCTAATGACTGATGGGACCGGGCCAATCCCCTGCTCCCCTCCCAAACCCACCTGGACACTGCTTGTACCCCACCCCATGCTGAACCATGAGGGAGGTGCTCACCCCTGTGCGGAGTCCCCAGTTCGGGGCAATCTTAACAACTGAAATTGAGAGAGGGTCACCTCCAGGGCAGGGGCTGGGGCAGGACATTTGGGGCTGCGTCTGTCCACCCTGGAAGTCTTTCCAGAGGGACCACCTGAGGGGGATGCTACCAGCAAGTGGGGGCCCTGGCACCTCCTCTCCAGTGCCATTCACAGGTATCCAGAGATCTGGAGTTTACTGTGGGGCCTCGGAGGACAGGGTGCTAGGATCTGCTTCTATAAAAGAAGACTCTGGGTCCCTCCTCCGGACCCCGGCCGCGTACCTTGTAGTCCATCTGCTCGGAGCAGTTGAAGACGTAGACCATGGTGCCCAGGGCTCTGCCCAGGTCCTTGGTCGTCTCAGTCTTGCCGGTCCCAGCGGGGCCGGCAGGGGCTCCACCCATGATGAGATGGAGGGACTGGGTCAGGGTGATATAGCACCTGCAAGTGACCACAGGTAAGCGTGTGTGCCAGCGACCCCATGGCCTCCCTGCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCAGGAGACACATGGGAGAGGGCAGAAAACCTTCAGGTGTGAAGGAGGAACCACAACCGTGGAGCAGAGGCAGCCCAGGTGCCTTTCCCACCTGTGGCATTCAGGGAGGTGGGCACTGCTACGACAACCAGAGTCTGCTCATGAGGGTCCATAAAACATGACCCCAACTCAGCAGGCCCACAGAGGGGTGCAGGAACTCTCCCAAGGCCACACAGCCGGTGCTAGAACAAGGACACAGTGGTAGAACTGAATGTGAACACAGGTCCACCTGACGCAAATGCCCAGTCCTTCCAGCCTC
GAATTCTCTGGAGATGCACCCAGGCTGTTGCAGGAACCAGTAAGTATTTCAACACCTTGTCCCTGCTGAGTTGGGTTCCACTCCCAGCCCTTTTCTGTCCTGTTACTACTCTGGCAATGACCTGTCAGAGGACTGGTTAGCGGCCACCTCCGTATCAGACAGTCTTGAAGGCCAACTGTCAGCTACGAGGTTAAACCTAGAGCATCAGGGGCCGTTGCCTGCTTGAGGTCTCCTCTGGAAACCTGCAGAAGACAGCTGTGTCTCTCCAAGTCACCACTTGAGGGGGCCCAATACTCGCGGTAAAGCTGCTCCCAGCACCTGCCTTTCCCTGTCTTCCCCAGGACAGCCAAGTCCTGGTGCCCTGGTGATCCCAGACACCCCCATGCCCAGTCTGCTGAGCGTGCAGCTTGTCCCCTGGCAGGACTGGGGCCTTTCGGAACAGCACCGCTTCCAGCTAGGCCAAGCCTCTCCTGTGGTCTCCATTGGAGCCCGTGAACATTCAGTGCCCAGAGTAGGGGCTATATAAATATTCTGGGGTTTGTTCATGGACGTCGGAGGTGCTCAGCAGCTCTGCTCCTGTGCTGGGGGCAAGGGAGAGGGTCCCCACGGTAACAGCCAGCACTGCCCATGGTTTGGGGTCCCCATTCTCTTGGTCATGGGGCCTCCAGCCCTGGGGCTGGGGAATGACTGAGGCAGAGGGAGCATAAGGAGAGGAGGAAGCAGCCACCCCAGGCACCTCTAATCCTGCTGGCAGACCTGTGTCACCAACACCGCCTTACAGGTTAGAAGGTGGAGGCAGAGGGAGTCCACATCACTGCCAAGCCGAGAGTCAGGGGTTAAGTTGGTGTATAAAGCAGGCTCTCAGCCGGGCACAACGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGACCAACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGCACGCCTGCAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTAAACCCGGGAGGCGGAGGTTCAGTGAACCGAGACTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTAAAACTCCGTCTCAAAAAAACAAAACATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAGCAGGCTCTCCACCCAGGTTGTGGGGCTTAAGCAGCCCAGGAGGCATTTGCACGTCCACACCCCACATGCTCCTGGTCTATCCTGTGGTGGGAGGACCTTGACACCGCCAACGCCCTGACTTGCATTTCCTTTTGGAAGAGCACAATTGTCCCAGGCCGCTAGGTCGGCCTCCACTTACCTTAGACAGCCCAGTGCTTCTCAACCCCCAGCATGCGTCAGGATCACCTGAGGCATTTGTTTAAAATGCAGAAATGCTCCTCCTAACAAGTGGGGCCCACGCTGGAGATTTTAACAAGCATCAGTGGGGGTGGGGCGCTGGCCCAGGCTGCTCCCCAATCCGAAGTCCCTGCACCCAGGTCGCCCCAGCCACTCCGCTGCACGCTCTGTGCCCCGGCATGGTTGTTCCCAAAACACACGGGCGCATTTCCTCCCTCCTCCTCTTCCTCCCTCTCCCCCTCCTTTCTTTCTTTCCTGCCATTCCCTTTCAGCACCTCCTATGCCCAGCTCCGCTGATACCAATAACAAAGCACTTTGTCTTTCTTTCCTAAGCAAAATTAATTATTCTCCCACCTGTATTTTGTTACACGTTTGCTACCATACATGTAACCTGTAATCTGATTCTGTTTTCAATGTGTTTGCCTAACCAGGCTTTGGGACCCTGGAGGGCAAGAGCTCAATGGCACCACACCACCCTTCGGTGCTTGGAACGTTGCAGAGAGGCAAGGAGGGTCTATCTGGCGTGTGAGGTCACAGGAAAGCTGACGAGCCAGTCACCCGACGTGACCCCGAGGCCGCAGGCAGGGGACTTTACCTGCACGGCAATCACAGACAAGACTTCCACTGAGATGCAATTAAACTCGTCAAAGCAGCCCCAGGCTCCCGTCTGGGCCAGGCCCTTGTAGATATTTCCACAGGACTGGAAAGGGCGAGATGGAGAAAGGAAGAGCTGGGAGGGTGACAGGGAGGGCGGGCGCTGCAGGGGCCTCCCCCTGCCTCTTCGGCTGTGTTTTCTCTTCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAGGCCCCACCTGGGCCAATCAGAAGGACTCGTCCCATCTACACCTGGGATTCCAGGTGGATGTTAAGTCCCTTCCAGGGAGATCCAACTTCAGATTTCACTTTTCTAAAATCCAGGAGGCGGATGTGGACTGCGTGGCCCTGACAGTGAACATGGGCTGCTGGTCCCATCCTCAGCCTCAGGAGGGGGCCCCCAGATTGTGGGGCTCAGATCCAAGCTGGGGAGGGGAGACCCTCTGCAGGCCTAGGGTCCAAAACTCAGGGTTCCATCCCCCTTGCCTTCCCGTCTTGCAAGAGGCTGCTGCAGCCTGGAGCTCCGAGGTATCCCCTTCCCCTCCCTGGCCTCCTGTGAGCCGACGATGTCCTGTGCAGGCTCTAATGACTGATGGGACCGGGCCAATCCCCTGCTCCCCTCCCAAACCCACCTGGACACTGCTTGTACCCCACCCCATGCTGAACCATGAGGGAGGTGCTCACCCCTGTGCGGAGTCCCCAGTTCGGGGCAATCTTAACAACTGAAATTGAGAGAGGGTCACCTCCAGGGCAGGGGCTGGGGCAGGACATTTGGGGCTGCGTCTGTCCACCCTGGAAGTCTTTCCAGAGGGACCACCTGAGGGGGATGCTACCAGCAAGTGGGGGCCCTGGCACCTCCTCTCCAGTGCCATTCACAGGTATCCAGAGATCTGGAGTTTACTGTGGGGCCTCGGAGGACAGGGTGCTAGGATCTGCTTCTATAAAAGAAGACTCTGGGTCCCTCCTCCGGACCCCGGCCGCGTACCTTGTAGTCCATCTGCTCGGAGCAGTTGAAGACGTAGACCATGGTGCCCAGGGCTCTGCCCAGGTCCTTGGTCGTCTCAGTCTTGCCGGTCCCAGCGGGGCCGGCAGGGGCTCCACCCATGATGAGATGGAGGGACTGGGTCAGGGTGATATAGCACCTGCAAGTGACCACAGGTAAGCGTGTGTGCCAGCGACCCCATGGCCTCCCTGCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCAGGAGACACATGGGAGAGGGCAGAAAACCTTCAGGTGTGAAGGAGGAACCACAACCGTGGAGCAGAGGCAGCCCAGGTGCCTTTCCCACCTGTGGCATTCAGGGAGGTGGGCACTGCTACGACAACCAGAGTCTGCTCATGAGGGTCCATAAAACATGACCCCAACTCAGCAGGCCCACAGAGGGGTGCAGGAACTCTCCCAAGGCCACACAGCCGGTGCTAGAACAAGGACACAGTGGTAGAACTGAATGTGAACACAGGTCCACCTGACGCAAATGCCCAGTCCTTCCAGCCTC
Task1_train_25578
This genomic variant is located on Chromosome 17, within the DNAH17, DNAH17-AS1 (dynein axonemal heavy chain 17| DNAH17 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Spermatogenic failure 39
GTCAGGATCACCTGAGGCATTTGTTTAAAATGCAGAAATGCTCCTCCTAACAAGTGGGGCCCACGCTGGAGATTTTAACAAGCATCAGTGGGGGTGGGGCGCTGGCCCAGGCTGCTCCCCAATCCGAAGTCCCTGCACCCAGGTCGCCCCAGCCACTCCGCTGCACGCTCTGTGCCCCGGCATGGTTGTTCCCAAAACACACGGGCGCATTTCCTCCCTCCTCCTCTTCCTCCCTCTCCCCCTCCTTTCTTTCTTTCCTGCCATTCCCTTTCAGCACCTCCTATGCCCAGCTCCGCTGATACCAATAACAAAGCACTTTGTCTTTCTTTCCTAAGCAAAATTAATTATTCTCCCACCTGTATTTTGTTACACGTTTGCTACCATACATGTAACCTGTAATCTGATTCTGTTTTCAATGTGTTTGCCTAACCAGGCTTTGGGACCCTGGAGGGCAAGAGCTCAATGGCACCACACCACCCTTCGGTGCTTGGAACGTTGCAGAGAGGCAAGGAGGGTCTATCTGGCGTGTGAGGTCACAGGAAAGCTGACGAGCCAGTCACCCGACGTGACCCCGAGGCCGCAGGCAGGGGACTTTACCTGCACGGCAATCACAGACAAGACTTCCACTGAGATGCGATTAAACTCGTCAAAGCAGCCCCAGGCTCCCGTCTGGGCCAGGCCCTTGTAGATATTTCCACAGGACTGGAAAGGGCGAGATGGAGAAAGGAAGAGCTGGGAGGGTGACAGGGAGGGCGGGCGCTGCAGGGGCCTCCCCCTGCCTCTTCGGCTGTGTTTTCTCTTCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAGGCCCCACCTGGGCCAATCAGAAGGACTCGTCCCATCTACACCTGGGATTCCAGGTGGATGTTAAGTCCCTTCCAGGGAGATCCAACTTCAGATTTCACTTTTCTAAAATCCAGGAGGCGGATGTGGACTGCGTGGCCCTGACAGTGAACATGGGCTGCTGGTCCCATCCTCAGCCTCAGGAGGGGGCCCCCAGATTGTGGGGCTCAGATCCAAGCTGGGGAGGGGAGACCCTCTGCAGGCCTAGGGTCCAAAACTCAGGGTTCCATCCCCCTTGCCTTCCCGTCTTGCAAGAGGCTGCTGCAGCCTGGAGCTCCGAGGTATCCCCTTCCCCTCCCTGGCCTCCTGTGAGCCGACGATGTCCTGTGCAGGCTCTAATGACTGATGGGACCGGGCCAATCCCCTGCTCCCCTCCCAAACCCACCTGGACACTGCTTGTACCCCACCCCATGCTGAACCATGAGGGAGGTGCTCACCCCTGTGCGGAGTCCCCAGTTCGGGGCAATCTTAACAACTGAAATTGAGAGAGGGTCACCTCCAGGGCAGGGGCTGGGGCAGGACATTTGGGGCTGCGTCTGTCCACCCTGGAAGTCTTTCCAGAGGGACCACCTGAGGGGGATGCTACCAGCAAGTGGGGGCCCTGGCACCTCCTCTCCAGTGCCATTCACAGGTATCCAGAGATCTGGAGTTTACTGTGGGGCCTCGGAGGACAGGGTGCTAGGATCTGCTTCTATAAAAGAAGACTCTGGGTCCCTCCTCCGGACCCCGGCCGCGTACCTTGTAGTCCATCTGCTCGGAGCAGTTGAAGACGTAGACCATGGTGCCCAGGGCTCTGCCCAGGTCCTTGGTCGTCTCAGTCTTGCCGGTCCCAGCGGGGCCGGCAGGGGCTCCACCCATGATGAGATGGAGGGACTGGGTCAGGGTGATATAGCACCTGCAAGTGACCACAGGTAAGCGTGTGTGCCAGCGACCCCATGGCCTCCCTGCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCAGGAGACACATGGGAGAGGGCAGAAAACCTTCAGGTGTGAAGGAGGAACCACAACCGTGGAGCAGAGGCAGCCCAGGTGCCTTTCCCACCTGTGGCATTCAGGGAGGTGGGCACTGCTACGACAACCAGAGTCTGCTCATGAGGGTCCATAAAACATGACCCCAACTCAGCAGGCCCACAGAGGGGTGCAGGAACTCTCCCAAGGCCACACAGCCGGTGCTAGAACAAGGACACAGTGGTAGAACTGAATGTGAACACAGGTCCACCTGACGCAAATGCCCAGTCCTTCCAGCCTCCACAGCTGACCTCCAAGTCGGACAGTTCCAAGAATCATGCGGAAGGGACCCACCAAGAGCACATGTGAGTTACTCAGGGACGGGCCTCACCTGTCAGTGAGTGGGGTGATGACCAGCCGCGGCGTGTTGCCCAGATACTCATAGGAATACTGGATTTGGGCATCGCAGATGTTGGCAAAGCAGTGTCGCTTCTCTTCGTCCCAGCGATGCCGGAGCTGGGCCTGCCAGGTGAAGGCCTGAGAACTCTCCACCTGCAGGATGAGCCGGAGCTCTTGTTGCCAGGTGGAATACAAGAGCTAGGGCTGCCTAAGGAAGGCCAGCATGCCTCCAAGGCCGGTCCCCTGCTGCCCAGGGAACCCTCCCTGGCCCTCTTTCCCCCTCCAGCACCCACATCCAACTGTATGGCCACCCTCAGTGGAATCTCGCTACAGAATGGCACTTCCAATGGGCGGGCACCGCTCATCTGACTGCTGTGTGTTGCTCACCAGGGGTGAGTCCGGGCAAGGAGGTTAGGAGGCAGCTGCAGCCAGCAACAGAGTCAGTGCCCCAGGAAGAGGAAGTGGCAGGGTCTGAAGTCCCTGAATGCACTGCCCTGAACCCGGTGTCCCCTTGCCCTTCCCCTGGCCCCTGGGACAGGGGCGCTCATGCCTTGGCCACGATCATTTTGGCCACCACGTCCCGTGCGTGCACATCGATGGTGCAGATGGTCATGATCTTCATCCTGTCGCCAGCGTTGAGGTTCCCCATGAGCAGCGTGATGAGTACGTTCAGCTGGCTAATCTGCGGGGGAGAGTGCCTTCGATGAGACACCACGGGTGCCCACATGCACTGGGGGGTCTTGTGGCTGGGTGCCCACAGCTGCATAGGGAACACCACCATGCTTTTGTTTACAGTAATGAAAAACAAGAGCGCCCTCGGTAGGCCCCAGCCAGGCACTGGTTTCACCAGGGTGCGGCCCTGATGGGACACCTGGCAGTGGCTAGCATGGACGTAGTAGAAGGAAATTCAAGGCCACGAGAGAGGGTGGATGAGAAGCAAAAACAGCTGACTTTAACGCCATCCAGAGTCTGTATATTTTTACATATAAATCAATTATACACACACAGAGTAACAGGTTGCATAAGGGCCCTGCAGTGTCATGCTTGGGTTGTGGAATTACAGGTAAATTCTCCTTCTTTTCAAGATGATCTTTTGTTTCCATATTTCTAACCAAGGACATTTTTTTTTTAAAGACTCTCAGTAGCATCTGCCAATTTTCAGGCGAGAAATCAAAGTACATATTTCTGAAGGTGTCTGTTACTCGTGGGGAGAGGTGCCTGGGGCTGTGGTGCGTGGCTGTTATTTGGCCTGTGGAAACGACGGTTTTGCGGGGCTCAGCCTCCGAGAAGAAGCCGCTCCAGGTACTCGCCCGGC
GTCAGGATCACCTGAGGCATTTGTTTAAAATGCAGAAATGCTCCTCCTAACAAGTGGGGCCCACGCTGGAGATTTTAACAAGCATCAGTGGGGGTGGGGCGCTGGCCCAGGCTGCTCCCCAATCCGAAGTCCCTGCACCCAGGTCGCCCCAGCCACTCCGCTGCACGCTCTGTGCCCCGGCATGGTTGTTCCCAAAACACACGGGCGCATTTCCTCCCTCCTCCTCTTCCTCCCTCTCCCCCTCCTTTCTTTCTTTCCTGCCATTCCCTTTCAGCACCTCCTATGCCCAGCTCCGCTGATACCAATAACAAAGCACTTTGTCTTTCTTTCCTAAGCAAAATTAATTATTCTCCCACCTGTATTTTGTTACACGTTTGCTACCATACATGTAACCTGTAATCTGATTCTGTTTTCAATGTGTTTGCCTAACCAGGCTTTGGGACCCTGGAGGGCAAGAGCTCAATGGCACCACACCACCCTTCGGTGCTTGGAACGTTGCAGAGAGGCAAGGAGGGTCTATCTGGCGTGTGAGGTCACAGGAAAGCTGACGAGCCAGTCACCCGACGTGACCCCGAGGCCGCAGGCAGGGGACTTTACCTGCACGGCAATCACAGACAAGACTTCCACTGAGATGCGATTAAACTCGTCAAAGCAGCCCCAGGCTCCCGTCTGGGCCAGGCCCTTGTAGATATTTCCACAGGACTGGAAAGGGCGAGATGGAGAAAGGAAGAGCTGGGAGGGTGACAGGGAGGGCGGGCGCTGCAGGGGCCTCCCCCTGCCTCTTCGGCTGTGTTTTCTCTTCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAGGCCCCACCTGGGCCAATCAGAAGGACTCGTCCCATCTACACCTGGGATTCCAGGTGGATGTTAAGTCCCTTCCAGGGAGATCCAACTTCAGATTTCACTTTTCTAAAATCCAGGAGGCGGATGTGGACTGCGTGGCCCTGACAGTGAACATGGGCTGCTGGTCCCATCCTCAGCCTCAGGAGGGGGCCCCCAGATTGTGGGGCTCAGATCCAAGCTGGGGAGGGGAGACCCTCTGCAGGCCTAGGGTCCAAAACTCAGGGTTCCATCCCCCTTGCCTTCCCGTCTTGCAAGAGGCTGCTGCAGCCTGGAGCTCCGAGGTATCCCCTTCCCCTCCCTGGCCTCCTGTGAGCCGACGATGTCCTGTGCAGGCTCTAATGACTGATGGGACCGGGCCAATCCCCTGCTCCCCTCCCAAACCCACCTGGACACTGCTTGTACCCCACCCCATGCTGAACCATGAGGGAGGTGCTCACCCCTGTGCGGAGTCCCCAGTTCGGGGCAATCTTAACAACTGAAATTGAGAGAGGGTCACCTCCAGGGCAGGGGCTGGGGCAGGACATTTGGGGCTGCGTCTGTCCACCCTGGAAGTCTTTCCAGAGGGACCACCTGAGGGGGATGCTACCAGCAAGTGGGGGCCCTGGCACCTCCTCTCCAGTGCCATTCACAGGTATCCAGAGATCTGGAGTTTACTGTGGGGCCTCGGAGGACAGGGTGCTAGGATCTGCTTCTATAAAAGAAGACTCTGGGTCCCTCCTCCGGACCCCGGCCGCGTACCTTGTAGTCCATCTGCTCGGAGCAGTTGAAGACGTAGACCATGGTGCCCAGGGCTCTGCCCAGGTCCTTGGTCGTCTCAGTCTTGCCGGTCCCAGCGGGGCCGGCAGGGGCTCCACCCATGATGAGATGGAGGGACTGGGTCAGGGTGATATAGTACCTGCAAGTGACCACAGGTAAGCGTGTGTGCCAGCGACCCCATGGCCTCCCTGCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCAGGAGACACATGGGAGAGGGCAGAAAACCTTCAGGTGTGAAGGAGGAACCACAACCGTGGAGCAGAGGCAGCCCAGGTGCCTTTCCCACCTGTGGCATTCAGGGAGGTGGGCACTGCTACGACAACCAGAGTCTGCTCATGAGGGTCCATAAAACATGACCCCAACTCAGCAGGCCCACAGAGGGGTGCAGGAACTCTCCCAAGGCCACACAGCCGGTGCTAGAACAAGGACACAGTGGTAGAACTGAATGTGAACACAGGTCCACCTGACGCAAATGCCCAGTCCTTCCAGCCTCCACAGCTGACCTCCAAGTCGGACAGTTCCAAGAATCATGCGGAAGGGACCCACCAAGAGCACATGTGAGTTACTCAGGGACGGGCCTCACCTGTCAGTGAGTGGGGTGATGACCAGCCGCGGCGTGTTGCCCAGATACTCATAGGAATACTGGATTTGGGCATCGCAGATGTTGGCAAAGCAGTGTCGCTTCTCTTCGTCCCAGCGATGCCGGAGCTGGGCCTGCCAGGTGAAGGCCTGAGAACTCTCCACCTGCAGGATGAGCCGGAGCTCTTGTTGCCAGGTGGAATACAAGAGCTAGGGCTGCCTAAGGAAGGCCAGCATGCCTCCAAGGCCGGTCCCCTGCTGCCCAGGGAACCCTCCCTGGCCCTCTTTCCCCCTCCAGCACCCACATCCAACTGTATGGCCACCCTCAGTGGAATCTCGCTACAGAATGGCACTTCCAATGGGCGGGCACCGCTCATCTGACTGCTGTGTGTTGCTCACCAGGGGTGAGTCCGGGCAAGGAGGTTAGGAGGCAGCTGCAGCCAGCAACAGAGTCAGTGCCCCAGGAAGAGGAAGTGGCAGGGTCTGAAGTCCCTGAATGCACTGCCCTGAACCCGGTGTCCCCTTGCCCTTCCCCTGGCCCCTGGGACAGGGGCGCTCATGCCTTGGCCACGATCATTTTGGCCACCACGTCCCGTGCGTGCACATCGATGGTGCAGATGGTCATGATCTTCATCCTGTCGCCAGCGTTGAGGTTCCCCATGAGCAGCGTGATGAGTACGTTCAGCTGGCTAATCTGCGGGGGAGAGTGCCTTCGATGAGACACCACGGGTGCCCACATGCACTGGGGGGTCTTGTGGCTGGGTGCCCACAGCTGCATAGGGAACACCACCATGCTTTTGTTTACAGTAATGAAAAACAAGAGCGCCCTCGGTAGGCCCCAGCCAGGCACTGGTTTCACCAGGGTGCGGCCCTGATGGGACACCTGGCAGTGGCTAGCATGGACGTAGTAGAAGGAAATTCAAGGCCACGAGAGAGGGTGGATGAGAAGCAAAAACAGCTGACTTTAACGCCATCCAGAGTCTGTATATTTTTACATATAAATCAATTATACACACACAGAGTAACAGGTTGCATAAGGGCCCTGCAGTGTCATGCTTGGGTTGTGGAATTACAGGTAAATTCTCCTTCTTTTCAAGATGATCTTTTGTTTCCATATTTCTAACCAAGGACATTTTTTTTTTAAAGACTCTCAGTAGCATCTGCCAATTTTCAGGCGAGAAATCAAAGTACATATTTCTGAAGGTGTCTGTTACTCGTGGGGAGAGGTGCCTGGGGCTGTGGTGCGTGGCTGTTATTTGGCCTGTGGAAACGACGGTTTTGCGGGGCTCAGCCTCCGAGAAGAAGCCGCTCCAGGTACTCGCCCGGC
Task1_train_25579
The gene DNAH17, DNAH17-AS1 (dynein axonemal heavy chain 17| DNAH17 antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Spermatogenic failure 39
TCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAGGCCCCACCTGGGCCAATCAGAAGGACTCGTCCCATCTACACCTGGGATTCCAGGTGGATGTTAAGTCCCTTCCAGGGAGATCCAACTTCAGATTTCACTTTTCTAAAATCCAGGAGGCGGATGTGGACTGCGTGGCCCTGACAGTGAACATGGGCTGCTGGTCCCATCCTCAGCCTCAGGAGGGGGCCCCCAGATTGTGGGGCTCAGATCCAAGCTGGGGAGGGGAGACCCTCTGCAGGCCTAGGGTCCAAAACTCAGGGTTCCATCCCCCTTGCCTTCCCGTCTTGCAAGAGGCTGCTGCAGCCTGGAGCTCCGAGGTATCCCCTTCCCCTCCCTGGCCTCCTGTGAGCCGACGATGTCCTGTGCAGGCTCTAATGACTGATGGGACCGGGCCAATCCCCTGCTCCCCTCCCAAACCCACCTGGACACTGCTTGTACCCCACCCCATGCTGAACCATGAGGGAGGTGCTCACCCCTGTGCGGAGTCCCCAGTTCGGGGCAATCTTAACAACTGAAATTGAGAGAGGGTCACCTCCAGGGCAGGGGCTGGGGCAGGACATTTGGGGCTGCGTCTGTCCACCCTGGAAGTCTTTCCAGAGGGACCACCTGAGGGGGATGCTACCAGCAAGTGGGGGCCCTGGCACCTCCTCTCCAGTGCCATTCACAGGTATCCAGAGATCTGGAGTTTACTGTGGGGCCTCGGAGGACAGGGTGCTAGGATCTGCTTCTATAAAAGAAGACTCTGGGTCCCTCCTCCGGACCCCGGCCGCGTACCTTGTAGTCCATCTGCTCGGAGCAGTTGAAGACGTAGACCATGGTGCCCAGGGCTCTGCCCAGGTCCTTGGTCGTCTCAGTCTTGCCGGTCCCAGCGGGGCCGGCAGGGGCTCCACCCATGATGAGATGGAGGGACTGGGTCAGGGTGATATAGCACCTGCAAGTGACCACAGGTAAGCGTGTGTGCCAGCGACCCCATGGCCTCCCTGCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCAGGAGACACATGGGAGAGGGCAGAAAACCTTCAGGTGTGAAGGAGGAACCACAACCGTGGAGCAGAGGCAGCCCAGGTGCCTTTCCCACCTGTGGCATTCAGGGAGGTGGGCACTGCTACGACAACCAGAGTCTGCTCATGAGGGTCCATAAAACATGACCCCAACTCAGCAGGCCCACAGAGGGGTGCAGGAACTCTCCCAAGGCCACACAGCCGGTGCTAGAACAAGGACACAGTGGTAGAACTGAATGTGAACACAGGTCCACCTGACGCAAATGCCCAGTCCTTCCAGCCTCCACAGCTGACCTCCAAGTCGGACAGTTCCAAGAATCATGCGGAAGGGACCCACCAAGAGCACATGTGAGTTACTCAGGGACGGGCCTCACCTGTCAGTGAGTGGGGTGATGACCAGCCGCGGCGTGTTGCCCAGATACTCATAGGAATACTGGATTTGGGCATCGCAGATGTTGGCAAAGCAGTGTCGCTTCTCTTCGTCCCAGCGATGCCGGAGCTGGGCCTGCCAGGTGAAGGCCTGAGAACTCTCCACCTGCAGGATGAGCCGGAGCTCTTGTTGCCAGGTGGAATACAAGAGCTAGGGCTGCCTAAGGAAGGCCAGCATGCCTCCAAGGCCGGTCCCCTGCTGCCCAGGGAACCCTCCCTGGCCCTCTTTCCCCCTCCAGCACCCACATCCAACTGTATGGCCACCCTCAGTGGAATCTCGCTACAGAATGGCACTTCCAATGGGCGGGCACCGCTCATCTGACTGCTGTGTGTTGCTCACCAGGGGTGAGTCCGGGCAAGGAGGTTAGGAGGCAGCTGCAGCCAGCAACAGAGTCAGTGCCCCAGGAAGAGGAAGTGGCAGGGTCTGAAGTCCCTGAATGCACTGCCCTGAACCCGGTGTCCCCTTGCCCTTCCCCTGGCCCCTGGGACAGGGGCGCTCATGCCTTGGCCACGATCATTTTGGCCACCACGTCCCGTGCGTGCACATCGATGGTGCAGATGGTCATGATCTTCATCCTGTCGCCAGCGTTGAGGTTCCCCATGAGCAGCGTGATGAGTACGTTCAGCTGGCTAATCTGCGGGGGAGAGTGCCTTCGATGAGACACCACGGGTGCCCACATGCACTGGGGGGTCTTGTGGCTGGGTGCCCACAGCTGCATAGGGAACACCACCATGCTTTTGTTTACAGTAATGAAAAACAAGAGCGCCCTCGGTAGGCCCCAGCCAGGCACTGGTTTCACCAGGGTGCGGCCCTGATGGGACACCTGGCAGTGGCTAGCATGGACGTAGTAGAAGGAAATTCAAGGCCACGAGAGAGGGTGGATGAGAAGCAAAAACAGCTGACTTTAACGCCATCCAGAGTCTGTATATTTTTACATATAAATCAATTATACACACACAGAGTAACAGGTTGCATAAGGGCCCTGCAGTGTCATGCTTGGGTTGTGGAATTACAGGTAAATTCTCCTTCTTTTCAAGATGATCTTTTGTTTCCATATTTCTAACCAAGGACATTTTTTTTTTAAAGACTCTCAGTAGCATCTGCCAATTTTCAGGCGAGAAATCAAAGTACATATTTCTGAAGGTGTCTGTTACTCGTGGGGAGAGGTGCCTGGGGCTGTGGTGCGTGGCTGTTATTTGGCCTGTGGAAACGACGGTTTTGCGGGGCTCAGCCTCCGAGAAGAAGCCGCTCCAGGTACTCGCCCGGCAGGTTTCAGAAGGATACACGGGCCCATGCACCTGCTTTTTAAACAAGTTTTAAAAACGTAACTAACTACACACTAGTAACACACCTGCTTTTTGTTATAATCTCTGATAGCGTTTTCATAGCCTTCCTCCAGCCTGGCAAATGCCAGGCCCACCTCGGTCGTCCACCAGATCTGGGTGCAAGTCAGGGCCACCTGAAAGTACATACCCCCCATTGCCCACGCAGTGAGCGATCGCTGGCGCCTGCTAACGCAGACATTCCTGCTGAAAGCTTAGATGGTTTTCCAGGGGACCACAGTTAACAGCGGAGCCCATGAACGCAAAGAAACTCGCCCCTTATCTCAGCCACGAGGCGCCGCCGAGCCCCCACCCGCCTCAGACCTGGGCTGGGTAGTCCAGGATCCACTGCTCCCTCGGCTTCTCTTCGTAGGTCACCACGGCCTCTGGGATTTCGTGCCGGAGGGTAGAGCACATTCGGTCCAGCACTCGATTCAGCCACACTTCCACCTGGGGACGGGAGCCACGGTGACCAATACAGCCATGTGTGCCTGCCTCTAGTTCCAATAATTTTGTTTGTATTTGTTGTAAAGAAAAACATTTCTCATCATCCTCATCCCAGGGGCAGACAGGTCAAGGATTTTACAGAGCAGTAACAGTGACACACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA
TCCCAAAGCTTGCTCAGGCCCCGGTGCATTGGAGCCTTCCGCAGGCCAGCAGGCAGGTCAGCTTACTGCCCAGGGTAACACCGTGGAGGGCTGGACACGAGGAAGAGCCATCCTTTCACCCTTGCCTCCCAGACCCCAGGATGGGGACTTCCTGGAGTCCCTAATAAGGGGCTCAGACAAGCACATTTAAGTTCTAAACCTTGCATGTTTTCTCAGCCCTTTTCTTTCTTGCGTGGAGAGGAGAGGGAGTCCTCTAAGGCGGGATGGGGGCACGTCTAGCAGGCCGGAGGCTTTCCCTCAAGACATCTGTGTCTCTCTAGGCCCCACCTGGGCCAATCAGAAGGACTCGTCCCATCTACACCTGGGATTCCAGGTGGATGTTAAGTCCCTTCCAGGGAGATCCAACTTCAGATTTCACTTTTCTAAAATCCAGGAGGCGGATGTGGACTGCGTGGCCCTGACAGTGAACATGGGCTGCTGGTCCCATCCTCAGCCTCAGGAGGGGGCCCCCAGATTGTGGGGCTCAGATCCAAGCTGGGGAGGGGAGACCCTCTGCAGGCCTAGGGTCCAAAACTCAGGGTTCCATCCCCCTTGCCTTCCCGTCTTGCAAGAGGCTGCTGCAGCCTGGAGCTCCGAGGTATCCCCTTCCCCTCCCTGGCCTCCTGTGAGCCGACGATGTCCTGTGCAGGCTCTAATGACTGATGGGACCGGGCCAATCCCCTGCTCCCCTCCCAAACCCACCTGGACACTGCTTGTACCCCACCCCATGCTGAACCATGAGGGAGGTGCTCACCCCTGTGCGGAGTCCCCAGTTCGGGGCAATCTTAACAACTGAAATTGAGAGAGGGTCACCTCCAGGGCAGGGGCTGGGGCAGGACATTTGGGGCTGCGTCTGTCCACCCTGGAAGTCTTTCCAGAGGGACCACCTGAGGGGGATGCTACCAGCAAGTGGGGGCCCTGGCACCTCCTCTCCAGTGCCATTCACAGGTATCCAGAGATCTGGAGTTTACTGTGGGGCCTCGGAGGACAGGGTGCTAGGATCTGCTTCTATAAAAGAAGACTCTGGGTCCCTCCTCCGGACCCCGGCCGCGTACCTTGTAGTCCATCTGCTCGGAGCAGTTGAAGACGTAGACCATGGTGCCCAGGGCTCTGCCCAGGTCCTTGGTCGTCTCAGTCTTGCCGGTCCCAGCGGGGCCGGCAGGGGCTCCACCCATGATGAGATGGAGGGACTGGGTCAGGGTGATATAGCACCTGCAAGTGACCACAGGTAAGCGTGTGTGCCAGCGACCCCATGGCCTCCCTGCTTTTATTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGACTATAGGCGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGAGGTTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCAGGAGACACATGGGAGAGGGCAGAAAACCTTCAGGTGTGAAGGAGGAACCACAACCGTGGAGCAGAGGCAGCCCAGGTGCCTTTCCCACCTGTGGCATTCAGGGAGGTGGGCACTGCTACGACAACCAGAGTCTGCTCATGAGGGTCCATAAAACATGACCCCAACTCAGCAGGCCCACAGAGGGGTGCAGGAACTCTCCCAAGGCCACACAGCCGGTGCTAGAACAAGGACACAGTGGTAGAACTGAATGTGAACACAGGTCCACCTGACGCAAATGCCCAGTCCTTCCAGCCTCCACAGCTGACCTCCAAGTCGGACAGTTCCAAGAATCATGCGGAAGGGACCCACCAAGAGCACATGTGAGTTACTCAGGGACGGGCCTCACCTGTCAGTGAGTGGGGTGATGACCAGCCGCGGCGTGTTGCCCAGATACTCATAGGAATACTGGATTTGGGCATCGTAGATGTTGGCAAAGCAGTGTCGCTTCTCTTCGTCCCAGCGATGCCGGAGCTGGGCCTGCCAGGTGAAGGCCTGAGAACTCTCCACCTGCAGGATGAGCCGGAGCTCTTGTTGCCAGGTGGAATACAAGAGCTAGGGCTGCCTAAGGAAGGCCAGCATGCCTCCAAGGCCGGTCCCCTGCTGCCCAGGGAACCCTCCCTGGCCCTCTTTCCCCCTCCAGCACCCACATCCAACTGTATGGCCACCCTCAGTGGAATCTCGCTACAGAATGGCACTTCCAATGGGCGGGCACCGCTCATCTGACTGCTGTGTGTTGCTCACCAGGGGTGAGTCCGGGCAAGGAGGTTAGGAGGCAGCTGCAGCCAGCAACAGAGTCAGTGCCCCAGGAAGAGGAAGTGGCAGGGTCTGAAGTCCCTGAATGCACTGCCCTGAACCCGGTGTCCCCTTGCCCTTCCCCTGGCCCCTGGGACAGGGGCGCTCATGCCTTGGCCACGATCATTTTGGCCACCACGTCCCGTGCGTGCACATCGATGGTGCAGATGGTCATGATCTTCATCCTGTCGCCAGCGTTGAGGTTCCCCATGAGCAGCGTGATGAGTACGTTCAGCTGGCTAATCTGCGGGGGAGAGTGCCTTCGATGAGACACCACGGGTGCCCACATGCACTGGGGGGTCTTGTGGCTGGGTGCCCACAGCTGCATAGGGAACACCACCATGCTTTTGTTTACAGTAATGAAAAACAAGAGCGCCCTCGGTAGGCCCCAGCCAGGCACTGGTTTCACCAGGGTGCGGCCCTGATGGGACACCTGGCAGTGGCTAGCATGGACGTAGTAGAAGGAAATTCAAGGCCACGAGAGAGGGTGGATGAGAAGCAAAAACAGCTGACTTTAACGCCATCCAGAGTCTGTATATTTTTACATATAAATCAATTATACACACACAGAGTAACAGGTTGCATAAGGGCCCTGCAGTGTCATGCTTGGGTTGTGGAATTACAGGTAAATTCTCCTTCTTTTCAAGATGATCTTTTGTTTCCATATTTCTAACCAAGGACATTTTTTTTTTAAAGACTCTCAGTAGCATCTGCCAATTTTCAGGCGAGAAATCAAAGTACATATTTCTGAAGGTGTCTGTTACTCGTGGGGAGAGGTGCCTGGGGCTGTGGTGCGTGGCTGTTATTTGGCCTGTGGAAACGACGGTTTTGCGGGGCTCAGCCTCCGAGAAGAAGCCGCTCCAGGTACTCGCCCGGCAGGTTTCAGAAGGATACACGGGCCCATGCACCTGCTTTTTAAACAAGTTTTAAAAACGTAACTAACTACACACTAGTAACACACCTGCTTTTTGTTATAATCTCTGATAGCGTTTTCATAGCCTTCCTCCAGCCTGGCAAATGCCAGGCCCACCTCGGTCGTCCACCAGATCTGGGTGCAAGTCAGGGCCACCTGAAAGTACATACCCCCCATTGCCCACGCAGTGAGCGATCGCTGGCGCCTGCTAACGCAGACATTCCTGCTGAAAGCTTAGATGGTTTTCCAGGGGACCACAGTTAACAGCGGAGCCCATGAACGCAAAGAAACTCGCCCCTTATCTCAGCCACGAGGCGCCGCCGAGCCCCCACCCGCCTCAGACCTGGGCTGGGTAGTCCAGGATCCACTGCTCCCTCGGCTTCTCTTCGTAGGTCACCACGGCCTCTGGGATTTCGTGCCGGAGGGTAGAGCACATTCGGTCCAGCACTCGATTCAGCCACACTTCCACCTGGGGACGGGAGCCACGGTGACCAATACAGCCATGTGTGCCTGCCTCTAGTTCCAATAATTTTGTTTGTATTTGTTGTAAAGAAAAACATTTCTCATCATCCTCATCCCAGGGGCAGACAGGTCAAGGATTTTACAGAGCAGTAACAGTGACACACCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCATTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA
Task1_train_25580
A sequence alteration has been identified in CANT1 (calcium activated nucleotidase 1) on Chromosome 17. Is it disease-inducing or harmless?
Pathogenic; Desbuquois dysplasia 1
CTCCCGTGCGCATGCCCAGCATCCTGCGCAGGCGCTCTCGTGGCCAGGCCTCTGCAAACAGTCAGCACAGACCGGGAGACAGAAAACTACACTCCCTCAGACGCTTTATTGTTTACAAAACAGATGGATCCCATAGGGAAGGAACACAATCATTATGCTGACAGCAGCGAACAGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAA
CTCCCGTGCGCATGCCCAGCATCCTGCGCAGGCGCTCTCGTGGCCAGGCCTCTGCAAACAGTCAGCACAGACCGGGAGACAGAAAACTACACTCCCTCAGACGCTTTATTGTTTACAAAACAGATGGATCCCATAGGGAAGGAACACAATCATTATGCTGACAGCAGCGAACAGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGTCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAA
Task1_train_25581
This alteration occurs within gene CANT1 (calcium activated nucleotidase 1) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Desbuquois dysplasia 1
GAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCT
GAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGTGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCT
Task1_train_25582
Assess the clinical impact of this variant on gene CANT1 (calcium activated nucleotidase 1), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; CANT1-related disorder
GAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGA
GAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCAGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGA
Task1_train_25583
Here is a mutation in CANT1 (calcium activated nucleotidase 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Desbuquois dysplasia 1
GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGG
GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCATGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGG
Task1_train_25584
A variant has been detected on Chromosome 17 in CANT1 (calcium activated nucleotidase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Epiphyseal dysplasia, multiple, 7
GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGG
GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCATGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGG
Task1_train_25585
Here is a variant affecting CANT1 (calcium activated nucleotidase 1) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Desbuquois dysplasia 1
GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGG
GGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCATGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGG
Task1_train_25586
A mutation on Chromosome 17 affecting CANT1 (calcium activated nucleotidase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Desbuquois dysplasia 1
ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCC
ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACGGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCC
Task1_train_25587
This alteration in CANT1 (calcium activated nucleotidase 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Epiphyseal dysplasia, multiple, 7
ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCC
ACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACGGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCC
Task1_train_25588
A variant affecting Chromosome 17, within the gene CANT1 (calcium activated nucleotidase 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Desbuquois dysplasia 1
GCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTG
GCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAAGCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTG
Task1_train_25589
This variant lies on Chromosome 17 and affects the gene CBX2 (chromobox 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; 46,XY sex reversal 5
GCCTTCAGGGAACATGAGAAGGAGGTGCAGAACCGGAAGAGAGGCAAGAGGCCGAGAGGCCGGCCAAGGAAGCTCACTGCCATGTCCTCCTGCAGCCGGCGCTCCAAGCTCAAGGTGGGTGGCTGCGCTGGGTATGCTGACCCCACCTCCCAGCACCCCCTTGGCGTAGGGGGCAGGCAGAGGGAGGGTTTGGGGCCCTCAGGAAGGGGGTGGCACTTCTGCCAACAGTCTGTCCCTCTACTCGGAAAACAGGAGCCCCCTTTCTTCCTGTCTCTCAGCTTCTGCTGCCAGGGGCCCCAGCCGGCTGAGAGTTCCTCCCCGCCCCTCCCAGGGGCTTCCTGCTTCAGCCTGTCCTGCACGCCTCTCTGCTGGGTGGCAGGGTCAAACTGCTGCAGACAAGCACTCTTCCCTCCCAGGGGGTCCTTGGGGGACGGAAAGGAACAGGAAGCATGCGTACAGTAGGTGCTCATAGGATTGCCGGCTGGATGTGACTCAAAAGCCTAAGATTTGGGGGCTACTCCGGGCCCACCTGCGGGTGCACCTTAAATCGAGGTGGCCACGAAAGGCAGGGCTGACTGAATAGCCAGGGGGTGCCAGGAGGGGCCTTGGAGGAGGGCAGAGGCAGTGTGGGCTGATGATGTGCTTTGGCCTTCTCGGGACTGTCCTGTCACCCCTCCTCGCTACAGTGATGGGCTCACCCCGCCACAGGTATGCATGCGCCCCTGGGGTCCGTGGTAGGGCCCCTCCCTCCCCTGAGGACAGGTGAGGCAGGACAGGATGGGGGAGGAGGGCCTGGCCTCAGTCCCGGGTGTGGCTTTGATTCCCTCCTCCGGGCACTGTCCCTGGACCTTCGCGTGTTGTGGCCACGAGCTCAGTCACTAACTGAACCTGCCTTTCCAGGAGGATTTCCTGAATGAACAGGATTCCCTGCTGTAGAATCTTGTTGGCTGGTCTACACTGGCCTTACGTTATCTTGAAAATCTTCCTTTTGAGCAGGATTGTGGGGGCTGCAGGAGTTCTGCTGACTGAGGAGTGGCCACAAGGCAGTGATTGATGCCTTGTTTGAGGAGGTTTGAGGAGATCACTCCTGTTGAAGTTGGGAGAACGGGGTGGTAGGGAGGCGGTGTTGGATCTGACTCCTAAAGCACACGCTGTAGAATTCTGACCCAGCAGGCAGCATGGCGGCCTGTAAAACACAAGGACACTCTTATTTAACATTGGCGGTGACATCCAGAAGGCGAGGAAGACAGTGGTTTATTTACCTGTATCCTGGAAGGCTCAGACTGGGAAATGGGGATACTGAAGCCCACTTGGTGTAGGCTGCAAAGCTGTGCATGCTACTTAATACGACTTGTAACCTCCTGAGTCCTGAAAACTGTGATGCTCTGGATACAGTTCCCTTTGAACGTCTGCTCTACAGCCCGGAGCTAAATCTGCATCCCCCTTGAAAGCTGATGGTGGACGGGGATGTCATGGTGTGGACTCTGTCCGTCCTTAACTCTGTCTTCATTTTTACGAGCCACCTATTTTTCTCTCTATCTACCTTTAATTTTGCCTCTCATGGAACTGTGAGCACGGTGAGAAGTTGCTCCTTCCTGACTGCCTCTCTGGTCTGGAAGCCACAGGAGTTGATGGCTGCAAGGTGCCCAGTGTTCCTTGGGGACAGCATGGCGCTCTGGACCCTGGGAACAGGCAGTGGAGGTGTGACACCTTCTCCTTTATCTTTTTTTTTTTTTTTTTGAGACGTAGTCTCGCTCTGTCGCCCAGGCTGGAGTTCAGTGGCACAATCTTGGCTCACTGCAGCCTCCACCTCCCGATTTGAAGCAATTCTCCTGCCTCAGCCTCTGCAGTAGCTGGGACTACAGGTGCGCGCCACAACACCCGGCTAATTTTTGTATTTTTAGTAGAAACAGGGCTCCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAACTTCTCCTTTATCTTTCCAGGAACCCGATGCTCCCTCCAAATCCAAGTCCAGCAGTTCCTCCTCTTCCTCCACGTCATCCTCCTCTTCCTCAGATGAAGAGGATGACAGTGACTTAGATGCTAAGAGGGGTCCCCGGGGCCGCGAGACCCACCCAGTGCCGCAGAAGAAGGCCCAGATCCTGGTGGCCAAACCCGAGCTGAAGGATCCCATCCGGAAGAAGCGGGGACGAAAGCCCCTGCCCCCAGAGCAAAAGGCAACCCGAAGACCCGTGAGCCTGGCCAAGGTGCTGAAGACCGCCCGGAAGGATCTGGGGGCCCCGGCCAGCAAGCTGCCCCCTCCACTCAGCGCCCCCGTTGCAGGCCTGGCAGCTCTGAAGGCCCACGCCAAGGAGGCCTGTGGCGGCCCCAGTGCCATGGCCACCCCAGAGAACCTGGCCAGCCTAATGAAGGGCATGGCCAGTAGCCCCGGCCGGGGTGGCATCAGCTGGCAGAGCTCCATCGTGCACTACATGAACCGGATGACCCAGAGCCAGGCCCAGGCTGCCAGCAGGTTGGCGCTGAAGGCCCAGGCCACCAACAAGTGCGGCCTCGGGCTGGACCTGAAGGTGAGGACGCAGAAAGGGGAGCTGGGAATGAGCCCTCCAGGAAGCAAAATCCCGAAGGCCCCCAGCGGTGGGGCTGTGGAGCAGAAAGTGGGGAACACAGGGGGCCCCCCGCACACCCATGGTGCCAGCAGGGTGCCTGCTGGGTGCCCAGGCCCCCAGCCAGCACCCACCCAGGAGCTGAGCCTCCAGGTCTTGGACTTGCAGAGTGTCAAGAATGGCATGCCCGGGGTGGGTCTCCTTGCCCGCCACGCCACCGCCACCAAGGGTGTCCCGGCCACCAACCCAGCCCCTGGGAAGGGCACTGGGAGTGGCCTCATTGGGGCCAGCGGGGCCACCATGCCCACCGACACAAGCAAAAGTGAGAAGCTGGCTTCCAGAGCAGTGGCGCCACCCACCCCTGCCAGCAAGAGGGACTGTGTCAAGGGCAGTGCTACCCCCAGTGGGCAGGAGAGCCGCACAGCCCCCGGAGAAGCCCGCAAGGCGGCCACACTGCCAGAGATGAGCGCAGGTGAGGAGAGTAGCAGCTCGGACTCCGACCCCGACTCCGCCTCGCCGCCCAGCACTGGACAGAACCCGTCAGTGTCCGTTCAGACCAGCCAGGACTGGAAGCCCACCCGCAGCCTCATCGAGCACGTATTTGTCACCGACGTCACTGCCAACCTCATCACCGTCACAGTGAAGGAGTCTCCCACCAGCGTGGGCTTCTTCAACCTGAGGCATTACTGAAGCCCCGGCGCCACCAGCTGCGCGGTCTTACTCCCCTTCCCTGCCTATGGTGTCGCTTGGCTAAGTGACTCCCAGCCCAAGCCCCCTCAAGAGTCTGGGTCGGGGGAGGAGGAGTGGGTGGCCTCCTTGATGGGCAGGCTTGGAAGGGACTTCTCCCGCACCCCACTCTGTCCCAGGACATAGGGCAGGGGGCCTCACTGCCTTGTTGGTCTCCACCTTGTTCCTACCTCTGCAGGCCTCTTTGCTCTCCCCTCTTGCCTCAGGAAACCCGGTGGCACCTGTGGCTCCAGGTGACTGTCTTGAACAGAGCGGGCTTCTTCATGGCTGCGTTGTTGCTGAGTTTGAACTGCTCCTCCCTGGCCTGCGTGACTGAATCACAGCTTTGGTCCCTGTCTTGCAGGGGCTGAGGTGTCAGGAGGGGACTTCTGGCCCACCTTGCCTTCAGCCCTGGAGTGGGCAGAGAGTATTGTGGGGAGGCATGGCCAGTGGGACTAGTGTTCCCTCCATCTGGCCACAGCTTTTGGGAGATGGGGTGGGCAGGGGTGGTCCTGGCTGGCATTGCCTGAGCCGGCAGTGATGAAGTGGGGAGCTTGCCCTTGACAGGTGGGGGCTGGCTGGGGCCTTAATGTGAAAAGACAGTGGCAGGCAGCTGGAGTAGAGCGAGCCCAGCAGCCCTAAAAGGCTGCCTTCATGGCCATCTAGCCCCAGTTCAGGGCAGCATCCATAGCCCACAAGCCAGCG
GCCTTCAGGGAACATGAGAAGGAGGTGCAGAACCGGAAGAGAGGCAAGAGGCCGAGAGGCCGGCCAAGGAAGCTCACTGCCATGTCCTCCTGCAGCCGGCGCTCCAAGCTCAAGGTGGGTGGCTGCGCTGGGTATGCTGACCCCACCTCCCAGCACCCCCTTGGCGTAGGGGGCAGGCAGAGGGAGGGTTTGGGGCCCTCAGGAAGGGGGTGGCACTTCTGCCAACAGTCTGTCCCTCTACTCGGAAAACAGGAGCCCCCTTTCTTCCTGTCTCTCAGCTTCTGCTGCCAGGGGCCCCAGCCGGCTGAGAGTTCCTCCCCGCCCCTCCCAGGGGCTTCCTGCTTCAGCCTGTCCTGCACGCCTCTCTGCTGGGTGGCAGGGTCAAACTGCTGCAGACAAGCACTCTTCCCTCCCAGGGGGTCCTTGGGGGACGGAAAGGAACAGGAAGCATGCGTACAGTAGGTGCTCATAGGATTGCCGGCTGGATGTGACTCAAAAGCCTAAGATTTGGGGGCTACTCCGGGCCCACCTGCGGGTGCACCTTAAATCGAGGTGGCCACGAAAGGCAGGGCTGACTGAATAGCCAGGGGGTGCCAGGAGGGGCCTTGGAGGAGGGCAGAGGCAGTGTGGGCTGATGATGTGCTTTGGCCTTCTCGGGACTGTCCTGTCACCCCTCCTCGCTACAGTGATGGGCTCACCCCGCCACAGGTATGCATGCGCCCCTGGGGTCCGTGGTAGGGCCCCTCCCTCCCCTGAGGACAGGTGAGGCAGGACAGGATGGGGGAGGAGGGCCTGGCCTCAGTCCCGGGTGTGGCTTTGATTCCCTCCTCCGGGCACTGTCCCTGGACCTTCGCGTGTTGTGGCCACGAGCTCAGTCACTAACTGAACCTGCCTTTCCAGGAGGATTTCCTGAATGAACAGGATTCCCTGCTGTAGAATCTTGTTGGCTGGTCTACACTGGCCTTACGTTATCTTGAAAATCTTCCTTTTGAGCAGGATTGTGGGGGCTGCAGGAGTTCTGCTGACTGAGGAGTGGCCACAAGGCAGTGATTGATGCCTTGTTTGAGGAGGTTTGAGGAGATCACTCCTGTTGAAGTTGGGAGAACGGGGTGGTAGGGAGGCGGTGTTGGATCTGACTCCTAAAGCACACGCTGTAGAATTCTGACCCAGCAGGCAGCATGGCGGCCTGTAAAACACAAGGACACTCTTATTTAACATTGGCGGTGACATCCAGAAGGCGAGGAAGACAGTGGTTTATTTACCTGTATCCTGGAAGGCTCAGACTGGGAAATGGGGATACTGAAGCCCACTTGGTGTAGGCTGCAAAGCTGTGCATGCTACTTAATACGACTTGTAACCTCCTGAGTCCTGAAAACTGTGATGCTCTGGATACAGTTCCCTTTGAACGTCTGCTCTACAGCCCGGAGCTAAATCTGCATCCCCCTTGAAAGCTGATGGTGGACGGGGATGTCATGGTGTGGACTCTGTCCGTCCTTAACTCTGTCTTCATTTTTACGAGCCACCTATTTTTCTCTCTATCTACCTTTAATTTTGCCTCTCATGGAACTGTGAGCACGGTGAGAAGTTGCTCCTTCCTGACTGCCTCTCTGGTCTGGAAGCCACAGGAGTTGATGGCTGCAAGGTGCCCAGTGTTCCTTGGGGACAGCATGGCGCTCTGGACCCTGGGAACAGGCAGTGGAGGTGTGACACCTTCTCCTTTATCTTTTTTTTTTTTTTTTTGAGACGTAGTCTCGCTCTGTCGCCCAGGCTGGAGTTCAGTGGCACAATCTTGGCTCACTGCAGCCTCCACCTCCCGATTTGAAGCAATTCTCCTGCCTCAGCCTCTGCAGTAGCTGGGACTACAGGTGCGCGCCACAACACCCGGCTAATTTTTGTATTTTTAGTAGAAACAGGGCTCCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAACTTCTCCTTTATCTTTCCAGGAACTCGATGCTCCCTCCAAATCCAAGTCCAGCAGTTCCTCCTCTTCCTCCACGTCATCCTCCTCTTCCTCAGATGAAGAGGATGACAGTGACTTAGATGCTAAGAGGGGTCCCCGGGGCCGCGAGACCCACCCAGTGCCGCAGAAGAAGGCCCAGATCCTGGTGGCCAAACCCGAGCTGAAGGATCCCATCCGGAAGAAGCGGGGACGAAAGCCCCTGCCCCCAGAGCAAAAGGCAACCCGAAGACCCGTGAGCCTGGCCAAGGTGCTGAAGACCGCCCGGAAGGATCTGGGGGCCCCGGCCAGCAAGCTGCCCCCTCCACTCAGCGCCCCCGTTGCAGGCCTGGCAGCTCTGAAGGCCCACGCCAAGGAGGCCTGTGGCGGCCCCAGTGCCATGGCCACCCCAGAGAACCTGGCCAGCCTAATGAAGGGCATGGCCAGTAGCCCCGGCCGGGGTGGCATCAGCTGGCAGAGCTCCATCGTGCACTACATGAACCGGATGACCCAGAGCCAGGCCCAGGCTGCCAGCAGGTTGGCGCTGAAGGCCCAGGCCACCAACAAGTGCGGCCTCGGGCTGGACCTGAAGGTGAGGACGCAGAAAGGGGAGCTGGGAATGAGCCCTCCAGGAAGCAAAATCCCGAAGGCCCCCAGCGGTGGGGCTGTGGAGCAGAAAGTGGGGAACACAGGGGGCCCCCCGCACACCCATGGTGCCAGCAGGGTGCCTGCTGGGTGCCCAGGCCCCCAGCCAGCACCCACCCAGGAGCTGAGCCTCCAGGTCTTGGACTTGCAGAGTGTCAAGAATGGCATGCCCGGGGTGGGTCTCCTTGCCCGCCACGCCACCGCCACCAAGGGTGTCCCGGCCACCAACCCAGCCCCTGGGAAGGGCACTGGGAGTGGCCTCATTGGGGCCAGCGGGGCCACCATGCCCACCGACACAAGCAAAAGTGAGAAGCTGGCTTCCAGAGCAGTGGCGCCACCCACCCCTGCCAGCAAGAGGGACTGTGTCAAGGGCAGTGCTACCCCCAGTGGGCAGGAGAGCCGCACAGCCCCCGGAGAAGCCCGCAAGGCGGCCACACTGCCAGAGATGAGCGCAGGTGAGGAGAGTAGCAGCTCGGACTCCGACCCCGACTCCGCCTCGCCGCCCAGCACTGGACAGAACCCGTCAGTGTCCGTTCAGACCAGCCAGGACTGGAAGCCCACCCGCAGCCTCATCGAGCACGTATTTGTCACCGACGTCACTGCCAACCTCATCACCGTCACAGTGAAGGAGTCTCCCACCAGCGTGGGCTTCTTCAACCTGAGGCATTACTGAAGCCCCGGCGCCACCAGCTGCGCGGTCTTACTCCCCTTCCCTGCCTATGGTGTCGCTTGGCTAAGTGACTCCCAGCCCAAGCCCCCTCAAGAGTCTGGGTCGGGGGAGGAGGAGTGGGTGGCCTCCTTGATGGGCAGGCTTGGAAGGGACTTCTCCCGCACCCCACTCTGTCCCAGGACATAGGGCAGGGGGCCTCACTGCCTTGTTGGTCTCCACCTTGTTCCTACCTCTGCAGGCCTCTTTGCTCTCCCCTCTTGCCTCAGGAAACCCGGTGGCACCTGTGGCTCCAGGTGACTGTCTTGAACAGAGCGGGCTTCTTCATGGCTGCGTTGTTGCTGAGTTTGAACTGCTCCTCCCTGGCCTGCGTGACTGAATCACAGCTTTGGTCCCTGTCTTGCAGGGGCTGAGGTGTCAGGAGGGGACTTCTGGCCCACCTTGCCTTCAGCCCTGGAGTGGGCAGAGAGTATTGTGGGGAGGCATGGCCAGTGGGACTAGTGTTCCCTCCATCTGGCCACAGCTTTTGGGAGATGGGGTGGGCAGGGGTGGTCCTGGCTGGCATTGCCTGAGCCGGCAGTGATGAAGTGGGGAGCTTGCCCTTGACAGGTGGGGGCTGGCTGGGGCCTTAATGTGAAAAGACAGTGGCAGGCAGCTGGAGTAGAGCGAGCCCAGCAGCCCTAAAAGGCTGCCTTCATGGCCATCTAGCCCCAGTTCAGGGCAGCATCCATAGCCCACAAGCCAGCG
Task1_train_25590
Here’s a variant in CBX2 (chromobox 2) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; 46,XY sex reversal 5
GCCACAAGGCAGTGATTGATGCCTTGTTTGAGGAGGTTTGAGGAGATCACTCCTGTTGAAGTTGGGAGAACGGGGTGGTAGGGAGGCGGTGTTGGATCTGACTCCTAAAGCACACGCTGTAGAATTCTGACCCAGCAGGCAGCATGGCGGCCTGTAAAACACAAGGACACTCTTATTTAACATTGGCGGTGACATCCAGAAGGCGAGGAAGACAGTGGTTTATTTACCTGTATCCTGGAAGGCTCAGACTGGGAAATGGGGATACTGAAGCCCACTTGGTGTAGGCTGCAAAGCTGTGCATGCTACTTAATACGACTTGTAACCTCCTGAGTCCTGAAAACTGTGATGCTCTGGATACAGTTCCCTTTGAACGTCTGCTCTACAGCCCGGAGCTAAATCTGCATCCCCCTTGAAAGCTGATGGTGGACGGGGATGTCATGGTGTGGACTCTGTCCGTCCTTAACTCTGTCTTCATTTTTACGAGCCACCTATTTTTCTCTCTATCTACCTTTAATTTTGCCTCTCATGGAACTGTGAGCACGGTGAGAAGTTGCTCCTTCCTGACTGCCTCTCTGGTCTGGAAGCCACAGGAGTTGATGGCTGCAAGGTGCCCAGTGTTCCTTGGGGACAGCATGGCGCTCTGGACCCTGGGAACAGGCAGTGGAGGTGTGACACCTTCTCCTTTATCTTTTTTTTTTTTTTTTTGAGACGTAGTCTCGCTCTGTCGCCCAGGCTGGAGTTCAGTGGCACAATCTTGGCTCACTGCAGCCTCCACCTCCCGATTTGAAGCAATTCTCCTGCCTCAGCCTCTGCAGTAGCTGGGACTACAGGTGCGCGCCACAACACCCGGCTAATTTTTGTATTTTTAGTAGAAACAGGGCTCCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAACTTCTCCTTTATCTTTCCAGGAACCCGATGCTCCCTCCAAATCCAAGTCCAGCAGTTCCTCCTCTTCCTCCACGTCATCCTCCTCTTCCTCAGATGAAGAGGATGACAGTGACTTAGATGCTAAGAGGGGTCCCCGGGGCCGCGAGACCCACCCAGTGCCGCAGAAGAAGGCCCAGATCCTGGTGGCCAAACCCGAGCTGAAGGATCCCATCCGGAAGAAGCGGGGACGAAAGCCCCTGCCCCCAGAGCAAAAGGCAACCCGAAGACCCGTGAGCCTGGCCAAGGTGCTGAAGACCGCCCGGAAGGATCTGGGGGCCCCGGCCAGCAAGCTGCCCCCTCCACTCAGCGCCCCCGTTGCAGGCCTGGCAGCTCTGAAGGCCCACGCCAAGGAGGCCTGTGGCGGCCCCAGTGCCATGGCCACCCCAGAGAACCTGGCCAGCCTAATGAAGGGCATGGCCAGTAGCCCCGGCCGGGGTGGCATCAGCTGGCAGAGCTCCATCGTGCACTACATGAACCGGATGACCCAGAGCCAGGCCCAGGCTGCCAGCAGGTTGGCGCTGAAGGCCCAGGCCACCAACAAGTGCGGCCTCGGGCTGGACCTGAAGGTGAGGACGCAGAAAGGGGAGCTGGGAATGAGCCCTCCAGGAAGCAAAATCCCGAAGGCCCCCAGCGGTGGGGCTGTGGAGCAGAAAGTGGGGAACACAGGGGGCCCCCCGCACACCCATGGTGCCAGCAGGGTGCCTGCTGGGTGCCCAGGCCCCCAGCCAGCACCCACCCAGGAGCTGAGCCTCCAGGTCTTGGACTTGCAGAGTGTCAAGAATGGCATGCCCGGGGTGGGTCTCCTTGCCCGCCACGCCACCGCCACCAAGGGTGTCCCGGCCACCAACCCAGCCCCTGGGAAGGGCACTGGGAGTGGCCTCATTGGGGCCAGCGGGGCCACCATGCCCACCGACACAAGCAAAAGTGAGAAGCTGGCTTCCAGAGCAGTGGCGCCACCCACCCCTGCCAGCAAGAGGGACTGTGTCAAGGGCAGTGCTACCCCCAGTGGGCAGGAGAGCCGCACAGCCCCCGGAGAAGCCCGCAAGGCGGCCACACTGCCAGAGATGAGCGCAGGTGAGGAGAGTAGCAGCTCGGACTCCGACCCCGACTCCGCCTCGCCGCCCAGCACTGGACAGAACCCGTCAGTGTCCGTTCAGACCAGCCAGGACTGGAAGCCCACCCGCAGCCTCATCGAGCACGTATTTGTCACCGACGTCACTGCCAACCTCATCACCGTCACAGTGAAGGAGTCTCCCACCAGCGTGGGCTTCTTCAACCTGAGGCATTACTGAAGCCCCGGCGCCACCAGCTGCGCGGTCTTACTCCCCTTCCCTGCCTATGGTGTCGCTTGGCTAAGTGACTCCCAGCCCAAGCCCCCTCAAGAGTCTGGGTCGGGGGAGGAGGAGTGGGTGGCCTCCTTGATGGGCAGGCTTGGAAGGGACTTCTCCCGCACCCCACTCTGTCCCAGGACATAGGGCAGGGGGCCTCACTGCCTTGTTGGTCTCCACCTTGTTCCTACCTCTGCAGGCCTCTTTGCTCTCCCCTCTTGCCTCAGGAAACCCGGTGGCACCTGTGGCTCCAGGTGACTGTCTTGAACAGAGCGGGCTTCTTCATGGCTGCGTTGTTGCTGAGTTTGAACTGCTCCTCCCTGGCCTGCGTGACTGAATCACAGCTTTGGTCCCTGTCTTGCAGGGGCTGAGGTGTCAGGAGGGGACTTCTGGCCCACCTTGCCTTCAGCCCTGGAGTGGGCAGAGAGTATTGTGGGGAGGCATGGCCAGTGGGACTAGTGTTCCCTCCATCTGGCCACAGCTTTTGGGAGATGGGGTGGGCAGGGGTGGTCCTGGCTGGCATTGCCTGAGCCGGCAGTGATGAAGTGGGGAGCTTGCCCTTGACAGGTGGGGGCTGGCTGGGGCCTTAATGTGAAAAGACAGTGGCAGGCAGCTGGAGTAGAGCGAGCCCAGCAGCCCTAAAAGGCTGCCTTCATGGCCATCTAGCCCCAGTTCAGGGCAGCATCCATAGCCCACAAGCCAGCGTGGGTGGGGCGGGGGTGGTCCCACAGCTGGGTTCCACCTGAAGAGCCTCCGTGCCTCGGAGCAGGAGAGGCAGGCTATGGCTGCCACCCTCCCTCCTGCCTGTGTCCCAGTGAGAACTGACCTGAGTCCCCTTCCAAACCCAGACCCACCTCCTGCCCCAGGCCCACTGAAGCATGTTCCATTTCTAAAAAGCCCAGAGTTCAGTGTGTCCCAAGGAAAACCCAAAGTGGAGGTGCTCAGGTCCAGGGGAGTCCAGTGGGCAGGACCCTTGGCAGGCAAGCCCCTCCCTTCACTCCCAGGACCTACCTTCTGCTAGTAAAGGACTGGCTTCATTCTAATTATGGCCCACAGACTGCCCCGGAGACCTGGAGGACAGCAGTGCTGGCACTTGGGTGTCCATGGGCCCGTCTGCCGGCTCTGCCTGTGCTGCAAGTGTTGGCCGTGGGTCCAGCCAACAACTCCCTACGTCCTGTGTGGGGCCCTGCCCAAGTGGATGAGGCATTCCTTGAGGAGTATCATTTTCCCTGACAATCCCCATCACCTTTAGGGGTTCCCTGCTTGGCTCCTTTCCAGCTGAAAAACTAGACCTGTGCCATTGGGGAAGCTGGACAAAGTCTAGGGGGCCCGCCTGGTAGAGGGTCCCGGGAAGCTGGATCTGTCAGCCTCGGCCCTGAGGCCCCTGTTAACTCAAGACTGTGAGCTGCCTCTAGGTGGTCACGTCTGGGAGCTAGCTTGTATGGCTTCTGACCAGTATCAGGATTTCTGTTCTGAGAGCAGCGTGGGCAGCAAGGCAGGGCAGCCCAGAGGTGGCAGCGGCAGGCAATCTGGTCACTAGGTCTTTGTGATGCCAAAAATAAAAGAGGGTGGGGTGGGTGCTTTCTGTTCCTCTGATTGGATGGAGTCCGCCAGCAGGCATGGGGCTACATTCCAGTGCCTGACTATAGGGAGGCACTCCTGATTCCATGGAGCAGCCCGGACTTTGAGAATGGGCTCTGGTTTGCGGGGGGCAGGCGTACCAGACTGCAAGACCCCCCA
GCCACAAGGCAGTGATTGATGCCTTGTTTGAGGAGGTTTGAGGAGATCACTCCTGTTGAAGTTGGGAGAACGGGGTGGTAGGGAGGCGGTGTTGGATCTGACTCCTAAAGCACACGCTGTAGAATTCTGACCCAGCAGGCAGCATGGCGGCCTGTAAAACACAAGGACACTCTTATTTAACATTGGCGGTGACATCCAGAAGGCGAGGAAGACAGTGGTTTATTTACCTGTATCCTGGAAGGCTCAGACTGGGAAATGGGGATACTGAAGCCCACTTGGTGTAGGCTGCAAAGCTGTGCATGCTACTTAATACGACTTGTAACCTCCTGAGTCCTGAAAACTGTGATGCTCTGGATACAGTTCCCTTTGAACGTCTGCTCTACAGCCCGGAGCTAAATCTGCATCCCCCTTGAAAGCTGATGGTGGACGGGGATGTCATGGTGTGGACTCTGTCCGTCCTTAACTCTGTCTTCATTTTTACGAGCCACCTATTTTTCTCTCTATCTACCTTTAATTTTGCCTCTCATGGAACTGTGAGCACGGTGAGAAGTTGCTCCTTCCTGACTGCCTCTCTGGTCTGGAAGCCACAGGAGTTGATGGCTGCAAGGTGCCCAGTGTTCCTTGGGGACAGCATGGCGCTCTGGACCCTGGGAACAGGCAGTGGAGGTGTGACACCTTCTCCTTTATCTTTTTTTTTTTTTTTTTGAGACGTAGTCTCGCTCTGTCGCCCAGGCTGGAGTTCAGTGGCACAATCTTGGCTCACTGCAGCCTCCACCTCCCGATTTGAAGCAATTCTCCTGCCTCAGCCTCTGCAGTAGCTGGGACTACAGGTGCGCGCCACAACACCCGGCTAATTTTTGTATTTTTAGTAGAAACAGGGCTCCACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAACTTCTCCTTTATCTTTCCAGGAACCCGATGCTCCCTCCAAATCCAAGTCCAGCAGTTCCTCCTCTTCCTCCACGTCATCCTCCTCTTCCTCAGATGAAGAGGATGACAGTGACTTAGATGCTAAGAGGGGTCCCCGGGGCCGCGAGACCCACCCAGTGCCGCAGAAGAAGGCCCAGATCCTGGTGGCCAAACCCGAGCTGAAGGATCCCATCCGGAAGAAGCGGGGACGAAAGCCCCTGCCCCCAGAGCAAAAGGCAACCCGAAGACCCGTGAGCCTGGCCAAGGTGCTGAAGACCGCCCGGAAGGATCTGGGGGCCCCGGCCAGCAAGCTGCCCCCTCCACTCAGCGCCCCCGTTGCAGGCCTGGCAGCTCTGAAGGCCCACGCCAAGGAGGCCTGTGGCGGCCCCAGTGCCATGGCCACCCCAGAGAACCTGGCCAGCCTAATGAAGGGCATGGCCAGTAGCCCCGGCCGGGGTGGCATCAGCTGGCAGAGCTCCATCGTGCACTACATGAACCGGATGACCCAGAGCCAGGCCCAGGCTGCCAGCAGGTTGGCGCTGAAGGCCCAGGCCACCAACAAGTGCGGCCTCGGGCTGGACCTGAAGGTGAGGACGCAGAAAGGGGAGCTGGGAATGAGCCCTCCAGGAAGCAAAATCCCGAAGGCCCCCAGCGGTGGGGCTGTGGAGCAGAAAGTGGGGAACACAGGGGGCCCCCCGCACACCCATGGTGCCAGCAGGGTGCCTGCTGGGTGCCCAGGCCCCCAGCCAGCACCCACCCAGGAGCTGAGCCTCCAGGTCTTGGACTTGCAGAGTGTCAAGAATGGCATGCCCGGGGTGGGTCTCCTTGCCCGCCACGCCACCGCCACCAAGGGTGTCCCGGCCACCAACCCAGCCCCTGGGAAGGGCACTGGGAGTGGCCTCATTGGGGCCAGCGGGGCCACCATGCCCACCGACACAAGCAAAAGTGAGAAGCTGGCTTCCAGAGCAGTGGCGCCACCCACCCCTGCCAGCAAGAGGGACTGTGTCAAGGGCAGTGCTACCCCCAGTGGGCAGGAGAGCCCCACAGCCCCCGGAGAAGCCCGCAAGGCGGCCACACTGCCAGAGATGAGCGCAGGTGAGGAGAGTAGCAGCTCGGACTCCGACCCCGACTCCGCCTCGCCGCCCAGCACTGGACAGAACCCGTCAGTGTCCGTTCAGACCAGCCAGGACTGGAAGCCCACCCGCAGCCTCATCGAGCACGTATTTGTCACCGACGTCACTGCCAACCTCATCACCGTCACAGTGAAGGAGTCTCCCACCAGCGTGGGCTTCTTCAACCTGAGGCATTACTGAAGCCCCGGCGCCACCAGCTGCGCGGTCTTACTCCCCTTCCCTGCCTATGGTGTCGCTTGGCTAAGTGACTCCCAGCCCAAGCCCCCTCAAGAGTCTGGGTCGGGGGAGGAGGAGTGGGTGGCCTCCTTGATGGGCAGGCTTGGAAGGGACTTCTCCCGCACCCCACTCTGTCCCAGGACATAGGGCAGGGGGCCTCACTGCCTTGTTGGTCTCCACCTTGTTCCTACCTCTGCAGGCCTCTTTGCTCTCCCCTCTTGCCTCAGGAAACCCGGTGGCACCTGTGGCTCCAGGTGACTGTCTTGAACAGAGCGGGCTTCTTCATGGCTGCGTTGTTGCTGAGTTTGAACTGCTCCTCCCTGGCCTGCGTGACTGAATCACAGCTTTGGTCCCTGTCTTGCAGGGGCTGAGGTGTCAGGAGGGGACTTCTGGCCCACCTTGCCTTCAGCCCTGGAGTGGGCAGAGAGTATTGTGGGGAGGCATGGCCAGTGGGACTAGTGTTCCCTCCATCTGGCCACAGCTTTTGGGAGATGGGGTGGGCAGGGGTGGTCCTGGCTGGCATTGCCTGAGCCGGCAGTGATGAAGTGGGGAGCTTGCCCTTGACAGGTGGGGGCTGGCTGGGGCCTTAATGTGAAAAGACAGTGGCAGGCAGCTGGAGTAGAGCGAGCCCAGCAGCCCTAAAAGGCTGCCTTCATGGCCATCTAGCCCCAGTTCAGGGCAGCATCCATAGCCCACAAGCCAGCGTGGGTGGGGCGGGGGTGGTCCCACAGCTGGGTTCCACCTGAAGAGCCTCCGTGCCTCGGAGCAGGAGAGGCAGGCTATGGCTGCCACCCTCCCTCCTGCCTGTGTCCCAGTGAGAACTGACCTGAGTCCCCTTCCAAACCCAGACCCACCTCCTGCCCCAGGCCCACTGAAGCATGTTCCATTTCTAAAAAGCCCAGAGTTCAGTGTGTCCCAAGGAAAACCCAAAGTGGAGGTGCTCAGGTCCAGGGGAGTCCAGTGGGCAGGACCCTTGGCAGGCAAGCCCCTCCCTTCACTCCCAGGACCTACCTTCTGCTAGTAAAGGACTGGCTTCATTCTAATTATGGCCCACAGACTGCCCCGGAGACCTGGAGGACAGCAGTGCTGGCACTTGGGTGTCCATGGGCCCGTCTGCCGGCTCTGCCTGTGCTGCAAGTGTTGGCCGTGGGTCCAGCCAACAACTCCCTACGTCCTGTGTGGGGCCCTGCCCAAGTGGATGAGGCATTCCTTGAGGAGTATCATTTTCCCTGACAATCCCCATCACCTTTAGGGGTTCCCTGCTTGGCTCCTTTCCAGCTGAAAAACTAGACCTGTGCCATTGGGGAAGCTGGACAAAGTCTAGGGGGCCCGCCTGGTAGAGGGTCCCGGGAAGCTGGATCTGTCAGCCTCGGCCCTGAGGCCCCTGTTAACTCAAGACTGTGAGCTGCCTCTAGGTGGTCACGTCTGGGAGCTAGCTTGTATGGCTTCTGACCAGTATCAGGATTTCTGTTCTGAGAGCAGCGTGGGCAGCAAGGCAGGGCAGCCCAGAGGTGGCAGCGGCAGGCAATCTGGTCACTAGGTCTTTGTGATGCCAAAAATAAAAGAGGGTGGGGTGGGTGCTTTCTGTTCCTCTGATTGGATGGAGTCCGCCAGCAGGCATGGGGCTACATTCCAGTGCCTGACTATAGGGAGGCACTCCTGATTCCATGGAGCAGCCCGGACTTTGAGAATGGGCTCTGGTTTGCGGGGGGCAGGCGTACCAGACTGCAAGACCCCCCA
Task1_train_25591
Here is a variant affecting CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Primary ciliary dyskinesia
CTATTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGCTCACTGCACATCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACCACAGGTGTGCACCAGCACACCTGGCTAATTTTTGTATTTTGGGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTCACTGCGCCCAGCCCTAATTTTGCTTTTTGATGAATATCCGGTCTAGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGCACGCAGCCTTAAAAGCAAATAACAAACGCGCATGCTCCCTGTATTTTGTAAATGTGAACCACTGCCTGCCCAGCTGCCCAGTTCGCAGTCACAGCGGGAGGGTTGAGAAATGTCACGAAATGGCTCCAAGCTCACGGACTTCAGAGCTCTCCTTGAGAGAGGAGCATGGAAGGTTATCATCCCCGCCAAGCCAGGGCACTCAGGTGGAAACACTGGCACGGGAAAAGCCAGGGTCCTGCCAGGCAGGCTCCTGGTGCTGTCCCCACATCACCTCCAGTTGGGCTTAGAAAACCATTCCACCGGGGCTCCCCAACCCTTCTGAGGCCCAAGGGGCTGCCAAAGCACCAGGGTGCCTGGAATGATGGAGGCGGGCATCCTTCCTGGACCACTCTCCACCCACATGTCCACCTGCCGAGACATCCCGGGTCCTGCCCGGTCTTGGGTCGGGGATCCATGCTGGTCAGGCCTGCAGCAGAGCCCCCATGGGAAATGCTGCCCAGACACATCATGTGCCCTTCTCGGAGGTCCTGCTGCCTCTCGCCCTGCCCTTCTTGGGTTGCCCAAACCCGTCTGTTGGTGAGTAGCAAGTCCCAAAAGACCCTATGGAGCTGTCAGCTGAGTATCGGTGTCCCAAGGCAAGAGCTGCCGAAATACCATGCTGTGAGATGGGGAGGATCACCCATGGAGAGGGCAGAGAGAGGGGCTCACATGCCCATGTCCTGGGGTAGTCAGGGCACACCATGGGGACAGCAGGAGGAGCTGGAGAAGCCCTGTGAGGAGTGGCCAGCGGATGAACCAGCTGTGGCCTCTTGTGCCCTCCACCCATCTTAACATCAAGAAGAGCTGTTGTTTTCTGCCCCTACCCCTGAGCTTGGCTGGGGCAGGGCAGGGGTCTAAGGGCCTCCCTCTCCTGGAGACTCACAGTGTCTGAGCATCAACCAGGTCCCGGTGCTCCACAGATTTGCAAGTGTCTGGGGGAGGGAGCCTGGCCCTCCCACACGCCCTGCCCACACCTGCTGGCTGTCCCCACAGGCAGGTCCTCTCAGTTCCGTTGGAGGACCAGGCTTTGGGAGCTTAGCAGCCAAAAAGAGACCCCCTGTCCTCTCCTCTCCTCTGTCCTGGCAGGGACGAGATTCAGGCAGGAGCGCCAGGAACGACAAGAGGGAGGGGATGAAGGGAGCTACAGGGAGAGACAAAACCTGGCTCACCTCTCGGACACTGCTGCCTGCGGGCGAGGACCCGTACCCTCCTGGGGTCTCTCCCTGAGTCTCTGTTTTCTGCCATAGGCAAGATTGAGCAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTGAAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAACAACCGGGTGACAGAGAATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGG
CTATTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGCTCACTGCACATCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACCACAGGTGTGCACCAGCACACCTGGCTAATTTTTGTATTTTGGGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTCACTGCGCCCAGCCCTAATTTTGCTTTTTGATGAATATCCGGTCTAGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGCACGCAGCCTTAAAAGCAAATAACAAACGCGCATGCTCCCTGTATTTTGTAAATGTGAACCACTGCCTGCCCAGCTGCCCAGTTCGCAGTCACAGCGGGAGGGTTGAGAAATGTCACGAAATGGCTCCAAGCTCACGGACTTCAGAGCTCTCCTTGAGAGAGGAGCATGGAAGGTTATCATCCCCGCCAAGCCAGGGCACTCAGGTGGAAACACTGGCACGGGAAAAGCCAGGGTCCTGCCAGGCAGGCTCCTGGTGCTGTCCCCACATCACCTCCAGTTGGGCTTAGAAAACCATTCCACCGGGGCTCCCCAACCCTTCTGAGGCCCAAGGGGCTGCCAAAGCACCAGGGTGCCTGGAATGATGGAGGCGGGCATCCTTCCTGGACCACTCTCCACCCACATGTCCACCTGCCGAGACATCCCGGGTCCTGCCCGGTCTTGGGTCGGGGATCCATGCTGGTCAGGCCTGCAGCAGAGCCCCCATGGGAAATGCTGCCCAGACACATCATGTGCCCTTCTCGGAGGTCCTGCTGCCTCTCGCCCTGCCCTTCTTGGGTTGCCCAAACCCGTCTGTTGGTGAGTAGCAAGTCCCAAAAGACCCTATGGAGCTGTCAGCTGAGTATCGGTGTCCCAAGGCAAGAGCTGCCGAAATACCATGCTGTGAGATGGGGAGGATCACCCATGGAGAGGGCAGAGAGAGGGGCTCACATGCCCATGTCCTGGGGTAGTCAGGGCACACCATGGGGACAGCAGGAGGAGCTGGAGAAGCCCTGTGAGGAGTGGCCAGCGGATGAACCAGCTGTGGCCTCTTGTGCCCTCCACCCATCTTAACATCAAGAAGAGCTGTTGTTTTCTGCCCCTACCCCTGAGCTTGGCTGGGGCAGGGCAGGGGTCTAAGGGCCTCCCTCTCCTGGAGACTCACAGTGTCTGAGCATCAACCAGGTCCCGGTGCTCCACAGATTTGCAAGTGTCTGGGGGAGGGAGCCTGGCCCTCCCACACGCCCTGCCCACACCTGCTGGCTGTCCCCACAGGCAGGTCCTCTCAGTTCCGTTGGAGGACCAGGCTTTGGGAGCTTAGCAGCCAAAAAGAGACCCCCTGTCCTCTCCTCTCCTCTGTCCTGGCAGGGACGAGATTCAGGCAGGAGCGCCAGGAACGACAAGAGGGAGGGGATGAAGGGAGCTACAGGGAGAGACAAAACCTGGCTCACCTCTCGGACACTGCTGCCTGCGGGCGAGGACCCGTACCCTCCTGGGGTCTCTCCCTGAGTCTCTGTTTTCTGCCATAGGCAAGATTGAGCAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTGAAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAACAACCGGGTGACAGAGAGTGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGG
Task1_train_25592
The gene GAA (alpha glucosidase) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Glycogen storage disease, type II
CACAATGGAACCCCGTAAGAAACCACAGGGATCAGAGGGCTTCCCGCCGGGTTGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCA
CACAATGGAACCCCGTAAGAAACCACAGGGATCAGAGGGCTTCCCGCCGGGTTGTGGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCATCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTGACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCATTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCACGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCA
Task1_train_25593
Consider a variant on Chromosome 17 in gene CCDC40, GAA (coiled-coil domain 40 molecular ruler complex subunit| alpha glucosidase). Determine its clinical classification and disease relevance.
Pathogenic; Glycogen storage disease, type II
AAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCT
AAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGGGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCT
Task1_train_25594
A genomic change on Chromosome 17 affects GAA (alpha glucosidase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Glycogen storage disease, type II
GTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTA
GTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGGGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTA
Task1_train_25595
Gene GAA (alpha glucosidase), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Glycogen storage disease, type II
TGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTC
TGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAGATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTAATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCACGTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTTCACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCAGGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACTTTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGACTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTATTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAAAATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCCATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTTCTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCTTTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCAGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTC
Task1_train_25596
The variant affects gene GAA (alpha glucosidase), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Glycogen storage disease, type II
GTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTG
GTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCAGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTG
Task1_train_25597
A variant was discovered in gene GAA (alpha glucosidase), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Glycogen storage disease, type II
GCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGC
GCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGAAAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCAAGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGGGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAATTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGGTGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACCTGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACTCCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACCTTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCCCCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCTGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGC
Task1_train_25598
This alteration occurs within gene GAA (alpha glucosidase) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
Pathogenic; Glycogen storage disease, type II
AGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGTAGGGCCTGCTCCCTGGCCGCGGCCCCCGCCCCAAGGCTCCCTCCTCCCTCCCTCATGAAGTCGGCGTTGGCCTGCAGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTGGTGAGTTGGGGTGGTGGCAGGGGAGGCAAGGGGCTGGCCGGGACGCGTCTCCTCAGGCCCCAGCAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGA
AGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCAAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGTAGGGCCTGCTCCCTGGCCGCGGCCCCCGCCCCAAGGCTCCCTCCTCCCTCCCTCATGAAGTCGGCGTTGGCCTGCAGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTGGTGAGTTGGGGTGGTGGCAGGGGAGGCAAGGGGCTGGCCGGGACGCGTCTCCTCAGGCCCCAGCAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGA
Task1_train_25599
This mutation is located in gene GAA (alpha glucosidase) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Glycogen storage disease, type II
ACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGTAGGGCCTGCTCCCTGGCCGCGGCCCCCGCCCCAAGGCTCCCTCCTCCCTCCCTCATGAAGTCGGCGTTGGCCTGCAGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTGGTGAGTTGGGGTGGTGGCAGGGGAGGCAAGGGGCTGGCCGGGACGCGTCTCCTCAGGCCCCAGCAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGAGGTTTAAAGAAAAGGTAAAGGTAAAGCTTCCATTCCGGCGCGCCCCTCATCAGCCAGCTGGTCCTGACTC
ACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCGCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGTCCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGAGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATGCCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTTTCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAGCCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAGCTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGTAGGGCCTGCTCCCTGGCCGCGGCCCCCGCCCCAAGGCTCCCTCCTCCCTCCCTCATGAAGTCGGCGTTGGCCTGCAGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTGGTGAGTTGGGGTGGTGGCAGGGGAGGCAAGGGGCTGGCCGGGACGCGTCTCCTCAGGCCCCAGCAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGAGGTTTAAAGAAAAGGTAAAGGTAAAGCTTCCATTCCGGCGCGCCCCTCATCAGCCAGCTGGTCCTGACTC